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1. Study of transplantation of melanocyte keratinocyte suspension in treatment of vitiligo

Author

Rastogi Swati, Goyal Puneet, Mangla Kanu, Bhavsar Neel, Patel Himanshu, and Rawal R

Subjects
Stable vitiligo, Autologous graft, Dermatology, RL1-803
Abstract

Background: Vitiligo is a common skin disease; however it still remains a difficult disease to treat. Not all patients respond to current forms of treatment. Surgical techniques offer a potential solution for patients with vitiligo who fail to respond to medical treatments. Aims: Aims of the study were to evaluate response of transplantation of melanocyte keratinocyte cell suspension in patients of stable vitiligo. Materials and Methods: Total 10 patients of stable localized vitiligo were included in the study and were treated with transplantation of autologous melanocyte keratinocyte suspension after motor/manual dermabrasion. Results: Out of total 10 patients, 40% [4 patients] had excellent [95 to 100%] response, 30% [3 patients] had good [65 to 94%] response, 20% [2 patients] had fair [20 to 64%] response and 10% [1 patient] had poor response [0 to 19%]. Age and sex of the patients and size and location of lesions, did not show significant influence on results of transplantation. Conclusion: Autologus melanocyte keratinocyte suspension combined with motor/manual dermabrasion is an effective affordable treatment for patients with stable vitiligo who fail to respond to medical treatments.

Published
2006

2. Developing a framework for arts in health programs targeting individuals with chronic pain: a mixed-methods study of practitioners

Author

Koebner, IJ, Chatterjee, HJ, Tancredi, DJ, Witt, CM, Gosdin, M, Rawal, R, Weinberg, G, and Meyers, FJ

Subjects
Allied Health and Rehabilitation Science, Health Services and Systems, Health Sciences, Health Services, Pain Research, Behavioral and Social Science, Clinical Research, Chronic Pain, 8.1 Organisation and delivery of services, Good Health and Well Being, Aged, Cross-Sectional Studies, Health Promotion, Humans, Mental Health, Surveys and Questionnaires, Arts, Museums, Pain, Public health, Mixed-methods, Public Health and Health Services, Public Health, Epidemiology, Health services and systems
Abstract

ObjectivesChronic pain is a leading cause of morbidity and disability across the world. Cultural engagement may be a valuable tool in addressing the social disconnection that often accompanies chronic pain. This study sought to develop a framework for arts in health programs targeting individuals with chronic pain.Study designSequential explanatory mixed-methods study.MethodsWeb-based, cross-sectional survey sent to arts and cultural professionals to assess their experience with arts in health programming. Semi-structured interviews conducted with a sample of survey respondents to explore their perspectives on targeted arts in health programming for individuals with chronic pain.ResultsBetween October 2019 and January 2020, 208 surveys were completed by arts and cultural professionals. One hundred and twenty (58%) of the respondents indicated that they currently run an arts in health or museums in health program. Among these 120 respondents, 52 (43%) targeted older adults, 50 (42%) targeted individuals with mental health concerns, and 18 (15%) targeted individuals living with pain. Improving well-being (101 [84%]) and reducing social isolation (90 [75%]) were the most common intended program outcomes, while improving pain was the least common outcome (26 [22%]). Fifteen survey respondents were interviewed. Interviewees identified four interdependent themes regarding best practices for arts in health programs pertaining to (1) program content and structure, (2) program facilitation, (3) partnerships, and (4) programs for individuals with chronic pain.ConclusionsThe cultural sector can support chronic pain prevention and treatment efforts through the development of specialized programs. This study provides a framework for developing arts in health programs that support individuals living with chronic pain.

Published
2021

3. Calculating the Effect of External Shading on the Solar Heat Gain Coefficient of Windows

Author

Kohler, C, Shukla, Y, and Rawal, R

Abstract

Current prescriptive building codes have limited ways to account for the effect of solar shading, such as overhangs and awnings, on window solar heat gains. We propose two new indicators, the adjusted Solar Heat Gain Coefficient (aSHGC) which accounts for external shading while calculating the SHGC of a window, and a weighted SHGC (SHGCw) which provides a seasonal SHGC weighted by solar intensity. We demonstrate a method to calculate these indices using existing tools combined with additional calculations. The method is demonstrated by calculating the effect of an awning on a clear double glazing in New Delhi.

Published
2021

6. Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption

Author

Cornelis, M C, Byrne, E M, Esko, T, Nalls, M A, Ganna, A, Paynter, N, Monda, K L, Amin, N, Fischer, K, Renstrom, F, Ngwa, J S, Huikari, V, Cavadino, A, Nolte, I M, Teumer, A, Yu, K, Marques-Vidal, P, Rawal, R, Manichaikul, A, Wojczynski, M K, Vink, J M, Zhao, J H, Burlutsky, G, Lahti, J, Mikkilä, V, Lemaitre, R N, Eriksson, J, Musani, S K, Tanaka, T, Geller, F, Luan, J, Hui, J, Mägi, R, Dimitriou, M, Garcia, M E, Ho, W-K, Wright, M J, Rose, L M, Magnusson, P K E, Pedersen, N L, Couper, D, Oostra, B A, Hofman, A, Ikram, M A, Tiemeier, H W, Uitterlinden, A G, van Rooij, F J A, Barroso, I, Johansson, I, Xue, L, Kaakinen, M, Milani, L, Power, C, Snieder, H, Stolk, R P, Baumeister, S E, Biffar, R, Gu, F, Bastardot, F, Kutalik, Z, Jacobs, Jr, D R, Forouhi, N G, Mihailov, E, Lind, L, Lindgren, C, Michaëlsson, K, Morris, A, Jensen, M, Khaw, K-T, Luben, R N, Wang, J J, Männistö, S, Perälä, M-M, Kähönen, M, Lehtimäki, T, Viikari, J, Mozaffarian, D, Mukamal, K, Psaty, B M, Döring, A, Heath, A C, Montgomery, G W, Dahmen, N, Carithers, T, Tucker, K L, Ferrucci, L, Boyd, H A, Melbye, M, Treur, J L, Mellström, D, Hottenga, J J, Prokopenko, I, Tönjes, A, Deloukas, P, Kanoni, S, Lorentzon, M, Houston, D K, Liu, Y, Danesh, J, Rasheed, A, Mason, M A, Zonderman, A B, Franke, L, Kristal, B S, Karjalainen, J, Reed, D R, Westra, H-J, Evans, M K, Saleheen, D, Harris, T B, Dedoussis, G, Curhan, G, Stumvoll, M, Beilby, J, Pasquale, L R, Feenstra, B, Bandinelli, S, Ordovas, J M, Chan, A T, Peters, U, Ohlsson, C, Gieger, C, Martin, N G, Waldenberger, M, Siscovick, D S, Raitakari, O, Eriksson, J G, Mitchell, P, Hunter, D J, Kraft, P, Rimm, E B, Boomsma, D I, Borecki, I B, Loos, R J F, Wareham, N J, Vollenweider, P, Caporaso, N, Grabe, H J, Neuhouser, M L, Wolffenbuttel, B H R, Hu, F B, Hyppönen, E, Järvelin, M-R, Cupples, L A, Franks, P W, Ridker, P M, van Duijn, C M, Heiss, G, Metspalu, A, North, K E, Ingelsson, E, Nettleton, J A, van Dam, R M, and Chasman, D I

Published
2015
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10. Worldwide Organization of Neurocritical Care: Results from the PRINCE Study Part 1

Author

Suarez, J. I., Martin, R. H., Bauza, C., Georgiadis, A., Venkatasubba Rao, C. P., Calvillo, E., Hemphill, J. C., Sung, G., Oddo, M., Taccone, Fabio Silvio, Leroux, P. D., Layon, A. J., Sarwal, A., Ali, A., Lele, A., Jarquin-Valdivia, A. A., Misiewska-Kaczur, A., Ahmad, A., Deeb, A. M., Jabbary, A. A., Fathy, A., Chan, A., Kern, CHRISTOPH ALEXANDER, Gritsan, A., Bshabshe, A. A., Malek, A., Schiefecker, A., Neto, A. R., ALHAJJ HASSAN, Ali, Zahrani, A. R. A., Sukumaran, A. V., Sarma, A. K., Aneman, A., Kramer, A., Naidech, A., Lacerda Gallardo, A. J., Miller, A., O'Connor, A., Kim, A., Afshinnik, A., Katila, A., Paulson, A., Parra, A., Rosengart, A., Almemari, A., Sanchez, B., Ray, B., Mccrum, B., Tegedor, B. V., Nathan, B., Tan, B., Emanuel, B., Pfaulser, B., Nazliel, B., Gil, B., Hightower, B., Francis, B., Roberts, B., Chaudhry, B., Romero, C., Graffagnino, C., VANDEN BERGHE, GREET CLARA, Hobohm, C., Dias, C., Bradford, C., Basignani, C., Chang, C., Junker, C., Lazaridis, C., Mcarthur, C., Williamson, C., Hebert, C., Ethan Kahn, D., Harvey, D., Laskowitz, D. T., Milzman, D., Chung, D., Greer, D., Seder, D., Miller, D. W., Barge, D., Roberts, D., Jordan, D., Bhonagiri, D., Nair, D., Aggarwal, D. G., Kutsogiannis, D. J., Laiwattana, D., Pinto, D. B., Bautista, D., Perez, D., Herrera, E. A., Singares, E. S., Manno, E., Wilensky, E. M., Giraldo, E. A., Jenkinson, E., Yarad, E., Zavala, E., Tesoro, E., Eskiogly, E., Bershad, E. M., Rosenthal, E., Coronel, E. B., Gordon, E., Salgado, E., Poch, E. J., Eriksson, E., Taccone, F. S., Al-Suwaidan, F., Sorond, F., Bilotta, F., Goldenberg, F. D., Rosciani, F., Bass, F., Bernard, F., Julian, F. B., Rasulo, F., Rincon, F., Santos, G., Anderson, G., Henderson, G., Meyfroidt, G., Wong, G. K. C., Aguilar, G., Rodriguez-Vega, G., Tamayo, G., Johnston, G., Kapinos, G., Abrego, G. C., Paul, G., Xu, G., Domeniconi, G., Dugan, G., Murthy, H. H. K., Peled, H., Zraiki, H., Alvarez, H., Rodgers, H., Vaitkevicius, H., Schumacher, H. C., Kobata, H., Al-Jehani, H., Lopez Delgado, H. J., Olmecah, H. M., Madrinan-Navia, H., Tran, H., Seppelt, I., Schirotzek, I., Medary, I. B., Maldonado, I. L., da Silva, I. R. F., Hemphill III, J. C., Javier Provencio, J., Mora, J. E., Abdullah, J. M., Langdon, J. R., Claassen, J., de Oliveira, J., Shilkin, J., Horn, J., Teitelbaum, J., Frank, J. I., Fletcher, J. J., Berkeley, J., Andersson, KIM JIMMY, Kirkwood, J., Welbourne, J., Song, J., Domingues, J. R. S., Paxton, J., Falla, J., Lokin, J., Dissin, J., Bonomo, J., Martinez, J. E., Mejia-Mantilla, J. H., Ramirez-Arce, J., Palo, J. E., Moretti, J. I., Gonzalez, J. R. Y., Levine, J. M., Medow, J., Pou, J. A. L., Ciro, J. D., Paucar, J. L. C., Wright, J. C., Bosel, J., Martinez, J., Mijangos-Mendez, J. C., Chalela, J., Granillo, J. F., Sohal, J., Hirsch, K. G., Donaldson, K., Cummings, K., Hubner, K. E., Wartenberg, K., Goyal, K., Sheth, K., Kunze, K., O'Phelan, K., Sheehan, K., Altaweel, L., Cross, L., Barrachina, L. G., Kuisle, L., Connolyy, L. S., Tack, L., Johnson, L., Shutter, L., Pelunkova, L., Ramos-Gomez, L. A., Camputaro, L. A., Kamran Athar, M., Madhusudan, M., Hashmi, M., Mokhtari, M., Jibaja, M., Muller, M. C. A., Costilla, M., Mirski, M., Ochoa, M. E., Pegoli, M., Dujardin, M. -F., Allasia, M., Teran, M. D., Gorman, Michael Murray, Chapman, M., Amatangelo, M., Nagayama, M., Dickinson, M., Koenig, M., Moreda, M., Berman, M., De Georgia, M., Kuiper, M., O'Leary, M., Rodricks, M., Schneck, M., Torbey, M., Defilippis, M., Meeker, M., Allen, David Michael, Llano, M., Villalobos, M., Treggiari, M., Tuppeny, M., Sharaby, M., Kottapally, M., Mcnett, M., Mcbride, M., Gomez, M., Varga, M., Kumar, M., Yazbeck, M. F., Smith, M., Stevenson Porter, N., Hammond, N., Karanjia, N., Sokhal, N., Singhal, N. S., Badjatia, N., Maldonado, N., Ko, N., Marinoff, N., Hernandez Aguilar, Orisel, Krauchi, O. R., Sanchez, O., Gomez, O., Rivera, O. S., Gilvaz, P. C., Raffa, P., Varelas, P., Promsin, P., Merlani, P., Shushma, P., Allan, P., Biston, P., Vespa, P., Amorim, P., de Azambuja Rodrigues, P. M., Hopkins, P., Hantson, P., Vanamoorthy, P., Gupta, P., Garvin, R., Badenes, R., Damani, R., Helbok, R., Dhar, R., Rawal, R., Carandang, R., Guisado, R., Luengo, R. -I. G., Sajjad, R., Davis, R., Rison, R. A., Hoesch, R., Murillo, R., Smith, R., Ball, R., Beer, R., Reshi, R. A., Landry, R., Puvanendiran, S., Ansari, S., Mukaddam, S., Garg, S., Mishra, S., Clark, S., Napolitano, Silvano, Pattnaik, S., Vosylius, S., John, S., Josephson, S. A., Glickman, S., Brehaut, S. S., Shiraz, S. A., Aguilera, S., Sternberg, S., Chou, S., Vallance, S., Lasocki, S., Schoenenberger, S., Bird, S., Finfer, S., Shieber, S., Vadi, S., Samavedam, S., Cordina, S., Feske, S., Glassner, S., Dixit, S., Dowling, S., Tena, S. A., Bowling, S., Francken, S., Muehlschlegel, S., Renard, S., Poli, S., Carter, T., Bleck, T. P., Trim, T., Breitenfeld, T., Van Bui, T., Shukla, U., Sinha, V., Rajajee, V., Aiyagari, V., Mccredie, V., Svigelj, V., Verma, V., Rao, V. A., David Freeman, W., Smith, W. S., Videtta, W., Habre, W., Hall, W., Coplin, W. M., Abdo, W. F., Wittebole, X., Titova, Y., PRINCE Study Investigators, Layon, A.J., Sarwal, A., Ali, A., Lele, A., Jarquin-Valdivia, A.A., Misiewska-Kaczur, A., Ahmad, A., Deeb, A.M., Jabbary, A.A., Fathy, A., Chan, A., Kern, A., Georgiadis, A., Gritsan, A., Bshabshe, A.A., Malek, A., Schiefecker, A., Neto, A.R., Hassan, A., Zahrani, ARA, Sukumaran, A.V., Sarma, A.K., Aneman, A., Kramer, A., Naidech, A., Lacerda Gallardo, A.J., Miller, A., O'Connor, A., Kim, A., Afshinnik, A., Katila, A., Paulson, A., Parra, A., Rosengart, A., Almemari, A., Sanchez, B., Ray, B., McCrum, B., Tegedor, B.V., Nathan, B., Tan, B., Emanuel, B., Pfaulser, B., Nazliel, B., Gil, B., Hightower, B., Francis, B., Roberts, B., Chaudhry, B., Romero, C., Graffagnino, C., Berghe, C., Hobohm, C., Dias, C., Bradford, C., Basignani, C., Chang, C., Venkatasubba Rao, C.P., Junker, C., Lazaridis, C., McArthur, C., Williamson, C., Hebert, C., Ethan Kahn, D., Harvey, D., Laskowitz, D.T., Milzman, D., Chung, D., Greer, D., Seder, D., Miller, D.W., Barge, D., Roberts, D., Jordan, D., Bhonagiri, D., Nair, D., Aggarwal, D.G., Kutsogiannis, D.J., Laiwattana, D., Pinto, D.B., Bautista, D., Perez, D., Herrera, E.A., Singares, E.S., Manno, E., Wilensky, E.M., Giraldo, E.A., Jenkinson, E., Yarad, E., Zavala, E., Tesoro, E., Eskiogly, E., Bershad, E.M., Rosenthal, E., Coronel, E.B., Gordon, E., Salgado, E., Poch, E.J., Calvillo, E., Eriksson, E., Taccone, F.S., Al-Suwaidan, F., Sorond, F., Bilotta, F., Goldenberg, F.D., Rosciani, F., Bass, F., Bernard, F., Julian, F.B., Rasulo, F., Rincon, F., Santos, G., Anderson, G., Henderson, G., Meyfroidt, G., Sung, G., Wong, GKC, Aguilar, G., Rodriguez-Vega, G., Tamayo, G., Johnston, G., Kapinos, G., Abrego, G.C., Paul, G., Xu, G., Domeniconi, G., Dugan, G., Murthy, HHK, Peled, H., Zraiki, H., Alvarez, H., Rodgers, H., Vaitkevicius, H., Schumacher, H.C., Kobata, H., Al-Jehani, H., Lopez Delgado, H.J., Olmecah, H.M., Madrinan-Navia, H., Tran, H., Seppelt, I., Schirotzek, I., Medary, I.B., Maldonado, I.L., da Silva, IRF, Hemphill Iii, J.C., Javier Provencio, J., Mora, J.E., Abdullah, J.M., Langdon, J.R., Claassen, J., de Oliveira, J., Shilkin, J., Horn, J., Teitelbaum, J., Frank, J.I., Fletcher, J.J., Berkeley, J., Kim, J., Kirkwood, J., Welbourne, J., Song, J., Domingues, JRS, Paxton, J., Falla, J., Lokin, J., Dissin, J., Bonomo, J., Martinez, J.E., Mejia-Mantilla, J.H., Ramirez-Arce, J., Palo, J.E., Moretti, J.I., Suarez, J.I., Gonzalez, JRY, Levine, J.M., Medow, J., Pou, JAL, Ciro, J.D., Paucar, JLC, Wright, J.C., Bosel, J., Martinez, J., Mijangos-Mendez, J.C., Chalela, J., Granillo, J.F., Sohal, J., Hirsch, K.G., Donaldson, K., Cummings, K., Hubner, K.E., Wartenberg, K., Goyal, K., Sheth, K., Kunze, K., O'Phelan, K., Sheehan, K., Altaweel, L., Cross, L., Barrachina, L.G., Kuisle, L., Connolyy, L.S., Tack, L., Johnson, L., Shutter, L., Pelunkova, L., Ramos-Gomez, L.A., Camputaro, L.A., Kamran Athar, M., Madhusudan, M., Hashmi, M., Mokhtari, M., Jibaja, M., Muller, MCA, Costilla, M., Mirski, M., Ochoa, M.E., Pegoli, M., Dujardin, M.F., Allasia, M., Teran, M.D., Gorman, M., Chapman, M., Amatangelo, M., Nagayama, M., Dickinson, M., Koenig, M., Moreda, M., Berman, M., De Georgia, M., Kuiper, M., O'Leary, M., Rodricks, M., Schneck, M., Torbey, M., DeFilippis, M., Meeker, M., Allen, M., Llano, M., Villalobos, M., Treggiari, M., Tuppeny, M., Sharaby, M., Kottapally, M., McNett, M., McBride, M., Gomez, M., Varga, M., Kumar, M., Yazbeck, M.F., Smith, M., Stevenson Porter, N., Hammond, N., Karanjia, N., Sokhal, N., Singhal, N.S., Badjatia, N., Maldonado, N., Ko, N., Marinoff, N., Hernandez, O., Krauchi, O.R., Sanchez, O., Gomez, O., Rivera, O.S., Gilvaz, P.C., Raffa, P., Varelas, P., Promsin, P., Merlani, P., Shushma, P., Allan, P., Biston, P., Vespa, P., Amorim, P., de Azambuja Rodrigues, P.M., Hopkins, P., Hantson, P., Vanamoorthy, P., Gupta, P., Garvin, R., Badenes, R., Damani, R., Helbok, R., Dhar, R., Rawal, R., Carandang, R., Guisado, R., Luengo, R.G., Sajjad, R., Davis, R., Rison, R.A., Hoesch, R., Murillo, R., Smith, R., Ball, R., Beer, R., Reshi, R.A., Landry, R., Puvanendiran, S., Ansari, S., Mukaddam, S., Garg, S., Mishra, S., Clark, S., Napolitano, S., Pattnaik, S., Vosylius, S., John, S., Josephson, S.A., Glickman, S., Brehaut, S.S., Shiraz, S.A., Aguilera, S., Sternberg, S., Chou, S., Vallance, S., Lasocki, S., Schoenenberger, S., Bird, S., Finfer, S., Shieber, S., Vadi, S., Samavedam, S., Cordina, S., Feske, S., Glassner, S., Dixit, S., Dowling, S., Tena, S.A., Bowling, S., Francken, S., Muehlschlegel, S., Renard, S., Poli, S., Carter, T., Bleck, T.P., Trim, T., Breitenfeld, T., Van Bui, T., Shukla, U., Sinha, V., Rajajee, V., Aiyagari, V., McCredie, V., Svigelj, V., Verma, V., Rao, V.A., David Freeman, W., Smith, W.S., Videtta, W., Habre, W., Hall, W., Coplin, W.M., Abdo, W.F., Wittebole, X., Titova, Y., Intensive Care Medicine, ANS - Neuroinfection & -inflammation, Other Research, ACS - Pulmonary hypertension & thrombosis, UCL - SSS/IREC/MEDA - Pôle de médecine aiguë, and UCL - (SLuc) Service de soins intensifs

Subjects
Internationality, Scope of practice, Latin Americans, medicine.medical_treatment, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Pharmacists, Critical Care and Intensive Care Medicine, law.invention, 0302 clinical medicine, Clinical Protocols, Central Nervous System Diseases, law, Observational study, Epidemiology, Neurocritical care, Case report form, Academic Medical Centers, Intensive care unit, Telemedicine, Europe, Intensive Care Units, Prospective, Transportation of Patients, Neurology, Practice Guidelines as Topic, Critical care, Outcomes, Original Work, Respiratory Therapy, medicine.medical_specialty, Asia, Tomography Scanners, X-Ray Computed, Critical Care, Health Personnel, Oceania, Respiratory therapist, Neurosurgery, Pharmacist, Personnel Management, Resource Allocation, Middle East, 03 medical and health sciences, Physicians, medicine, Humans, Fellowships and Scholarships, business.industry, Internship and Residency, Neurointensive care, 030208 emergency & critical care medicine, Latin America, Family medicine, North America, Neurology (clinical), business, Delivery of Health Care, 030217 neurology & neurosurgery
Abstract

Introduction Neurocritical care focuses on the care of critically ill patients with an acute neurologic disorder and has grown significantly in the past few years. However, there is a lack of data that describe the scope of practice of neurointensivists and epidemiological data on the types of patients and treatments used in neurocritical care units worldwide. To address these issues, we designed a multicenter, international, point-prevalence, cross-sectional, prospective, observational, non-interventional study in the setting of neurocritical care (PRINCE Study). Methods In this manuscript, we analyzed data from the initial phase of the study that included registration, hospital, and intensive care unit (ICU) organizations. We present here descriptive statistics to summarize data from the registration case report form. We performed the Kruskal–Wallis test followed by the Dunn procedure to test for differences in practices among world regions. Results We analyzed information submitted by 257 participating sites from 47 countries. The majority of those sites, 119 (46.3%), were in North America, 44 (17.2%) in Europe, 34 (13.3%) in Asia, 9 (3.5%) in the Middle East, 34 (13.3%) in Latin America, and 14 (5.5%) in Oceania. Most ICUs are from academic institutions (73.4%) located in large urban centers (44% > 1 million inhabitants). We found significant differences in hospital and ICU organization, resource allocation, and use of patient management protocols. The highest nursing/patient ratio was in Oceania (100% 1:1). Dedicated Advanced Practiced Providers are mostly present in North America (73.7%) and are uncommon in Oceania (7.7%) and the Middle East (0%). The presence of dedicated respiratory therapist is common in North America (85%), Middle East (85%), and Latin America (84%) but less common in Europe (26%) and Oceania (7.7%). The presence of dedicated pharmacist is highest in North America (89%) and Oceania (85%) and least common in Latin America (38%). The majority of respondents reported having a dedicated neuro-ICU (67% overall; highest in North America: 82%; and lowest in Oceania: 14%). Conclusion The PRINCE Study results suggest that there is significant variability in the delivery of neurocritical care. The study also shows it is feasible to undertake international collaborations to gather global data about the practice of neurocritical care. Electronic supplementary material The online version of this article (10.1007/s12028-019-00750-3) contains supplementary material, which is available to authorized users.

Published
2020

11. Global Survey of Outcomes of Neurocritical Care Patients: Analysis of the PRINCE Study Part 2

Author

Rao C, Suarez J, Martin R, Bauza C, Georgiadis A, Calvillo E, Hemphill J, Sung G, Oddo M, Taccone F, LeRoux P, Domeniconi G, Camputaro L, Villalobos M, Allasia M, Goldenberg F, Teran M, Rosciani F, Alvarez H, Costilla M, Videtta W, Perez D, Raffa P, Seppelt I, Rodgers H, Paxton J, Bhonagiri D, Aneman A, Jenkinson E, Bradford C, Finfer S, Yarad E, Bass F, Hammond N, O'Connor A, Bird S, Smith R, Barge D, Shilkin J, Woods W, Roberts B, O'Leary M, Vallance S, Helbok R, Beer R, Pfaulser B, Schiefecker A, Almemari A, Mukaddam S, Wittebole X, Berghe C, Dujardin M, Renard S, Hantson P, Biston P, Meyfroidt G, da Silva I, de Oliveira J, Neto A, Domingues J, Rodrigues P, Teitelbaum J, Chapman M, McCredie V, Marinoff N, Perez A, Kutsogiannis D, Bernard F, Kramer A, Moretti J, Aguilera S, Poch E, Romero C, Wong G, Song J, Xu G, Mejia-Mantilla J, Madrinan-Navia H, Martinez J, Ochoa M, Bautista D, Varga M, Gomez M, Ciro J, Gil B, Murillo R, Hernandez O, Ramirez-Arce J, Breitenfeld T, Gallardo A, Delgado H, Gonzalez J, Hache-Marliere M, Pinto D, Llano M, Salgado E, Jibaja M, Wright J, Harvey D, Verma V, Hopkins P, Chan A, Welbourne J, Dowling S, Katila A, Lasocki S, Wartenberg K, Hobohm C, Poli S, Schirotzek I, Bosel J, Schoenenberger S, Francken S, Shieber S, Kern A, Falla J, Herrera E, Gilvaz P, Goyal K, Sokhal N, Sohal J, Aggarwal D, Ray B, Pattnaik S, Garg S, Dixit S, Rawal R, Samavedam S, Madhusudan M, Paul G, Mishra S, Shushma P, Shukla U, Sinha V, Vanamoorthy P, Vadi S, Mokhtari M, Rasulo F, Pegoli M, Bilotta F, Nagayama M, Kobata H, Vosylius S, Abdullah J, Granillo J, Mijangos-Mendez J, Horn J, Muller M, Kuiper M, Abdo W, McArthur C, Newby L, Hashmi M, Shiraz S, Abrego G, Coronel E, Rivera O, Paucar J, Gomez O, Palo J, Lokin J, Misiewska-Kaczur A, Dias C, Amorim P, Andre S, Rodriguez-Vega G, Gritsan A, Titova Y, Al Jabbary A, Al Zahrani A, Pelunkova L, Zraiki H, Deeb A, Al Bshabshe A, Al-Jehani H, Al-Suwaidan F, Svigelj V, Ramos-Gomez L, Aguilar G, Badenes R, Pou J, Zavala E, Julian F, Barrachina L, Tegedor B, Tena S, Krauchi O, Tamayo G, Sanchez B, Gonzalezluengo R, Puvanendiran S, Merlani P, Laiwattana D, Promsin P, Nazliel B, Eriksson E, Chalela J, Miller D, Guisado R, Gordon E, Murthy H, Paulson A, Rajajee V, Sheehan K, Williamson C, Ball R, Allan P, Berkeley J, Muehlschlegel S, Carandang R, Hall W, Sarwal A, Damani R, Maldonado N, Tan B, Gupta P, Lazaridis C, Bershad E, Ansari S, Singares E, Manno E, Provencio J, Chaudhry B, McBride M, Dhar R, Roberts D, Allen M, Schumacher H, Habre W, Sheth K, Greer D, Kunze K, Varelas P, Tack L, Porter N, Junker C, Rodricks M, Tuppeny M, Basignani C, Napolitano S, Anderson G, Donaldson K, Davis R, Sternberg S, Giraldo E, Tran H, Coplin W, Badjatia N, Fathy A, Reshi R, Bonomo J, Seder D, Connolyy L, McCrum B, Carter T, Treggiari M, Dickinson M, Rison R, Mirski M, John S, Bleck T, Malek A, Trim T, Smith M, Athar M, Rincon F, Altaweel L, Vespa P, Emanuel B, Eskiogly E, McNett M, Sukumaran A, Shutter L, Milzman D, Glassner S, OPhelan K, Rosenthal E, Kottapally M, Smith W, Ko N, Josephson S, Kim A, Singhal N, Ahmad A, Meeker M, Hirsch K, Nair D, Chou S, Santos G, Clark S, Feske S, Henderson G, Sorond F, Vaitkevicius H, Chung D, Kim J, Amatangelo M, Kapinos G, Torbey M, Kahn D, Chang C, Koenig M, Gorman M, Langdon J, Dissin J, Cross L, Peled H, Claassen J, Ali A, Layon A, Miller A, Wilensky E, Kumar M, Levine J, Maldonado I, Schneck M, Lele A, Sarma A, Yazbeck M, Johnston G, Jarquin-Valdivia A, Johnson L, Kuisle L, Sajjad R, Glickman S, Garvin R, Parra A, DeFilippis M, Fletcher J, Freeman W, Rao V, Olmecah H, Dugan G, Medary I, Hoesch R, Brehaut S, Afshinnik A, Moreda M, Graffagnino C, Laskowitz D, Naidech A, Francis B, Berman M, Tesoro E, Medow J, Jordan D, Aiyagari V, Rosengart A, De Georgia M, Bowling S, Sharaby M, Nathan B, Landry R, Hebert C, Hubner K, Karanjia N, Hightower B, Cummings K, Kirkwood J, Frank J, Hassan A, Sanchez O, Cordina S, Mora J, Bui T, PRINCE Study Investigators, UCL - SSS/IREC/MEDA - Pôle de médecine aiguë, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Service de soins intensifs, and Meyfroidt, Geert

Subjects
medicine.medical_specialty, IMPACT, NEUROSCIENCES, Clinical Neurology, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], TRAUMATIC BRAIN-INJURY, UNITED-STATES, Outcomes, INTENSIVE-CARE, Critical Care and Intensive Care Medicine, Logistic regression, VALIDATION, 03 medical and health sciences, 0302 clinical medicine, Critical Care Medicine, General & Internal Medicine, Observational study, Intensive care, Severity of illness, Epidemiology, Neurocritical care, Medicine, Case report form, Science & Technology, business.industry, LENGTH-OF-STAY, Glasgow Coma Scale, Neurointensive care, 030208 emergency & critical care medicine, Critical care, Prospective, Emergency medicine, PATTERNS, Neurosciences & Neurology, Neurology (clinical), business, Life Sciences & Biomedicine, CRITICALLY-ILL PATIENTS, GLASGOW COMA SCALE, 030217 neurology & neurosurgery
Abstract

Contains fulltext : 218566pub.pdf (Publisher’s version ) (Closed access) Contains fulltext : 218566pos.pdf (Author’s version postprint ) (Open Access) BACKGROUND: Neurocritical care is devoted to the care of critically ill patients with acute neurological or neurosurgical emergencies. There is limited information regarding epidemiological data, disease characteristics, variability of clinical care, and in-hospital mortality of neurocritically ill patients worldwide. We addressed these issues in the Point PRevalence In Neurocritical CarE (PRINCE) study, a prospective, cross-sectional, observational study. METHODS: We recruited patients from various intensive care units (ICUs) admitted on a pre-specified date, and the investigators recorded specific clinical care activities they performed on the subjects during their first 7 days of admission or discharge (whichever came first) from their ICUs and at hospital discharge. In this manuscript, we analyzed the final data set of the study that included patient admission characteristics, disease type and severity, ICU resources, ICU and hospital length of stay, and in-hospital mortality. We present descriptive statistics to summarize data from the case report form. We tested differences between geographically grouped data using parametric and nonparametric testing as appropriate. We used a multivariable logistic regression model to evaluate factors associated with in-hospital mortality. RESULTS: We analyzed data from 1545 patients admitted to 147 participating sites from 31 countries of which most were from North America (69%, N = 1063). Globally, there was variability in patient characteristics, admission diagnosis, ICU treatment team and resource allocation, and in-hospital mortality. Seventy-three percent of the participating centers were academic, and the most common admitting diagnosis was subarachnoid hemorrhage (13%). The majority of patients were male (59%), a half of whom had at least two comorbidities, and median Glasgow Coma Scale (GCS) of 13. Factors associated with in-hospital mortality included age (OR 1.03; 95% CI, 1.02 to 1.04); lower GCS (OR 1.20; 95% CI, 1.14 to 1.16 for every point reduction in GCS); pupillary reactivity (OR 1.8; 95% CI, 1.09 to 3.23 for bilateral unreactive pupils); admission source (emergency room versus direct admission [OR 2.2; 95% CI, 1.3 to 3.75]; admission from a general ward versus direct admission [OR 5.85; 95% CI, 2.75 to 12.45; and admission from another ICU versus direct admission [OR 3.34; 95% CI, 1.27 to 8.8]); and the absence of a dedicated neurocritical care unit (NCCU) (OR 1.7; 95% CI, 1.04 to 2.47). CONCLUSION: PRINCE is the first study to evaluate care patterns of neurocritical patients worldwide. The data suggest that there is a wide variability in clinical care resources and patient characteristics. Neurological severity of illness and the absence of a dedicated NCCU are independent predictors of in-patient mortality.

Published
2019

14. A GENOME WIDE META-ANALYSIS IN 27,300 SUBJECTS IDENTIFIES NOVEL LOCI ASSOCIATED WITH THYROID PEROXIDASE ANTIBODIES AND CLINICAL THYROID DISEASE: OP47

Author

Medici, M, Porcu, E, Pistis, G, Teumer, A, Brown, S, Jensen, R, Rawal, R, Roef, G, Vermeulen, S, Lahti, J, Simmonds, M, Husemoen, L L, Freathy, R, Shields, B, Pietzner, D, Taes, Y, Psaty, B, Hofman, A, Wallaschofski, H, Gough, S, zu Schwabedissen, H Meyer, Frayling, T, Kaufman, J-M, Linneberg, A, Räikkönen, K, Rivadeneira, F, Uitterlinden, A, Walsh, J, Meisinger, C, den Heijer, M, Völzke, H, Wilson, S, Visser, T, Cappola, A, Sanna, S, Toniolo, D, Naitza, S, and Peeters, R P

Published
2013

15. Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM

Author

Amin, N, Byrne, E, Johnson, J, Chenevix-Trench, G, Walter, S, Nolte, I M, Vink, J M, Rawal, R, Mangino, M, Teumer, A, Keers, J C, Verwoert, G, Baumeister, S, Biffar, R, Petersmann, A, Dahmen, N, Doering, A, Isaacs, A, Broer, L, Wray, N R, Montgomery, G W, Levy, D, Psaty, B M, Gudnason, V, Chakravarti, A, Sulem, P, Gudbjartsson, D F, Kiemeney, L A, Thorsteinsdottir, U, Stefansson, K, van Rooij, F JA, Aulchenko, Y S, Hottenga, J J, Rivadeneira, F R, Hofman, A, Uitterlinden, A G, Hammond, C J, Shin, S-Y, Ikram, A, Witteman, J CM, Janssens, A CJW, Snieder, H, Tiemeier, H, Wolfenbuttel, B HR, Oostra, B A, Heath, A C, Wichmann, E, Spector, T D, Grabe, H J, Boomsma, D I, Martin, N G, and van Duijn, C M

Published
2012
Full Text
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18. New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries

Author

Shrine, N. (Nick), Guyatt, A. L. (Anna L.), Erzurumluoglu, A. M. (A. Mesut), Jackson, V. E. (Victoria E.), Hobbs, B. D. (Brian D.), Melbourne, C. A. (Carl A.), Batini, C. (Chiara), Fawcett, K. A. (Katherine A.), Song, K. (Kijoung), Sakornsakolpat, P. (Phuwanat), Li, X. (Xingnan), Boxall, R. (Ruth), Reeve, N. F. (Nicola F.), Obeidat, M. (Ma'en), Zhao, J. H. (Jing Hua), Wielscher, M. (Matthias), Weiss, S. (Stefan), Kentistou, K. A. (Katherine A.), Cook, J. P. (James P.), Sun, B. B. (Benjamin B.), Zhou, J. (Jian), Hui, J. (Jennie), Karrasch, S. (Stefan), Imboden, M. (Medea), Harris, S. E. (Sarah E.), Marten, J. (Jonathan), Enroth, S. (Stefan), Kerr, S. M. (Shona M.), Surakka, I. (Ida), Vitart, V. (Veronique), Lehtimäki, T. (Terho), Allen, R. J. (Richard J.), Bakke, P. S. (Per S.), Beaty, T. H. (Terri H.), Bleecker, E. R. (Eugene R.), Bosse, Y. (Yohan), Brandsma, C.-A. (Corry-Anke), Chen, Z. (Zhengming), Crapo, J. D. (James D.), Danesh, J. (John), DeMeo, D. L. (Dawn L.), Dudbridge, F. (Frank), Ewert, R. (Ralf), Gieger, C. (Christian), Gulsvik, A. (Amund), Hansell, A. L. (Anna L.), Hao, K. (Ke), Hoffman, J. D. (Joshua D.), Hokanson, J. E. (John E.), Homuth, G. (Georg), Joshi, P. K. (Peter K.), Joubert, P. (Philippe), Langenberg, C. (Claudia), Li, X. (Xuan), Li, L. (Liming), Lin, K. (Kuang), Lind, L. (Lars), Locantore, N. (Nicholas), Luan, J. (Jian'an), Mahajan, A. (Anubha), Maranville, J. C. (Joseph C.), Murray, A. (Alison), Nickle, D. C. (David C.), Packer, R. (Richard), Parker, M. M. (Margaret M.), Paynton, M. L. (Megan L.), Porteous, D. J. (David J.), Prokopenko, D. (Dmitry), Qiao, D. (Dandi), Rawal, R. (Rajesh), Runz, H. (Heiko), Sayers, I. (Ian), Sin, D. D. (Don D.), Smith, B. H. (Blair H.), Artigas, M. S. (Maria Soler), Sparrow, D. (David), Tal-Singer, R. (Ruth), Timmers, P. R. (Paul R. H. J.), Van den Berge, M. (Maarten), Whittaker, J. C. (John C.), Woodruff, P. G. (Prescott G.), Verges-Armstrong, L. M. (Laura M.), Troyanskaya, O. G. (Olga G.), Raitakari, O. T. (Olli T.), Kähönen, M. (Mika), Polasek, O. (Ozren), Gyllensten, U. (Ulf), Rudan, I. (Igor), Deary, I. J. (Ian J.), Probst-Hensch, N. M. (Nicole M.), Schulz, H. (Holger), James, A. L. (Alan L.), Wilson, J. F. (James F.), Stubbe, B. (Beate), Zeggini, E. (Eleftheria), Järvelin, M.-R. (Marjo-Riitta), Wareham, N. (Nick), Silverman, E. K. (Edwin K.), Hayward, C. (Caroline), Morris, A. P. (Andrew P.), Butterworth, A. S. (Adam S.), Scott, R. A. (Robert A.), Walters, R. G. (Robin G.), Meyers, D. A. (Deborah A.), Cho, M. H. (Michael H.), Strachan, D. P. (David P.), Hall, I. P. (Ian P.), Tobin, M. D. (Martin D.), Wain, L. V. (Louise, V), Shrine, N. (Nick), Guyatt, A. L. (Anna L.), Erzurumluoglu, A. M. (A. Mesut), Jackson, V. E. (Victoria E.), Hobbs, B. D. (Brian D.), Melbourne, C. A. (Carl A.), Batini, C. (Chiara), Fawcett, K. A. (Katherine A.), Song, K. (Kijoung), Sakornsakolpat, P. (Phuwanat), Li, X. (Xingnan), Boxall, R. (Ruth), Reeve, N. F. (Nicola F.), Obeidat, M. (Ma'en), Zhao, J. H. (Jing Hua), Wielscher, M. (Matthias), Weiss, S. (Stefan), Kentistou, K. A. (Katherine A.), Cook, J. P. (James P.), Sun, B. B. (Benjamin B.), Zhou, J. (Jian), Hui, J. (Jennie), Karrasch, S. (Stefan), Imboden, M. (Medea), Harris, S. E. (Sarah E.), Marten, J. (Jonathan), Enroth, S. (Stefan), Kerr, S. M. (Shona M.), Surakka, I. (Ida), Vitart, V. (Veronique), Lehtimäki, T. (Terho), Allen, R. J. (Richard J.), Bakke, P. S. (Per S.), Beaty, T. H. (Terri H.), Bleecker, E. R. (Eugene R.), Bosse, Y. (Yohan), Brandsma, C.-A. (Corry-Anke), Chen, Z. (Zhengming), Crapo, J. D. (James D.), Danesh, J. (John), DeMeo, D. L. (Dawn L.), Dudbridge, F. (Frank), Ewert, R. (Ralf), Gieger, C. (Christian), Gulsvik, A. (Amund), Hansell, A. L. (Anna L.), Hao, K. (Ke), Hoffman, J. D. (Joshua D.), Hokanson, J. E. (John E.), Homuth, G. (Georg), Joshi, P. K. (Peter K.), Joubert, P. (Philippe), Langenberg, C. (Claudia), Li, X. (Xuan), Li, L. (Liming), Lin, K. (Kuang), Lind, L. (Lars), Locantore, N. (Nicholas), Luan, J. (Jian'an), Mahajan, A. (Anubha), Maranville, J. C. (Joseph C.), Murray, A. (Alison), Nickle, D. C. (David C.), Packer, R. (Richard), Parker, M. M. (Margaret M.), Paynton, M. L. (Megan L.), Porteous, D. J. (David J.), Prokopenko, D. (Dmitry), Qiao, D. (Dandi), Rawal, R. (Rajesh), Runz, H. (Heiko), Sayers, I. (Ian), Sin, D. D. (Don D.), Smith, B. H. (Blair H.), Artigas, M. S. (Maria Soler), Sparrow, D. (David), Tal-Singer, R. (Ruth), Timmers, P. R. (Paul R. H. J.), Van den Berge, M. (Maarten), Whittaker, J. C. (John C.), Woodruff, P. G. (Prescott G.), Verges-Armstrong, L. M. (Laura M.), Troyanskaya, O. G. (Olga G.), Raitakari, O. T. (Olli T.), Kähönen, M. (Mika), Polasek, O. (Ozren), Gyllensten, U. (Ulf), Rudan, I. (Igor), Deary, I. J. (Ian J.), Probst-Hensch, N. M. (Nicole M.), Schulz, H. (Holger), James, A. L. (Alan L.), Wilson, J. F. (James F.), Stubbe, B. (Beate), Zeggini, E. (Eleftheria), Järvelin, M.-R. (Marjo-Riitta), Wareham, N. (Nick), Silverman, E. K. (Edwin K.), Hayward, C. (Caroline), Morris, A. P. (Andrew P.), Butterworth, A. S. (Adam S.), Scott, R. A. (Robert A.), Walters, R. G. (Robin G.), Meyers, D. A. (Deborah A.), Cho, M. H. (Michael H.), Strachan, D. P. (David P.), Hall, I. P. (Ian P.), Tobin, M. D. (Martin D.), and Wain, L. V. (Louise, V)

Abstract

Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of European ancestry, we define 279 lung function signals, 139 of which are new. In combination, these variants strongly predict COPD in independent populations. Furthermore, the combined effect of these variants showed generalizability across smokers and never smokers, and across ancestral groups. We highlight biological pathways, known and potential drug targets for COPD and, in phenome-wide association studies, autoimmune-related and other pleiotropic effects of lung function–associated variants. This new genetic evidence has potential to improve future preventive and therapeutic strategies for COPD.

Published
2019

22. Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

Author

Teumer, A. (Alexander), Chaker, L. (Layal), Groeneweg, S. (Stefan), Li, Y. (Yong), Di Munno, C. (Celia), Barbieri, C. (Caterina), Schultheiss, U.T. (Ulla T.), Traglia, M. (Michela), Ahluwalia, T.S. (Tarunveer Singh), Akiyama, M. (Masato), Appel, E.V.R. (Emil Vincent R.), Arking, D.E. (Dan), Arnold, A.M. (Alice), Astrup, A. (Arne), Beekman, M. (Marian), Beilby, J.P. (John), Bekaert, S. (Sofie), Boerwinkle, E. (Eric), Brown, S.J. (Stephen), Buyzere, M. (Marc) de, Campbell, P.J. (Purdey J.), Ceresini, G. (Graziano), Cerqueira, C. (Charlotte), Cucca, F. (Francesco), Deary, I.J. (Ian), Deelen, J. (Joris), Eckardt, K.-U. (Kai-Uwe), Ekici, A.B. (Arif B.), Hagen, K. (Knut), Ferrrucci, L. (Luigi), Fiers, T. (Tom), Fiorillo, E. (Edoardo), Ford, I. (Ian), Fox, C.S. (Caroline), Fuchsberger, C. (Christian), Galesloot, T.E. (Tessel), Gieger, C. (Christian), Gögele, M. (Martin), Grandi, A. (Alessandro) de, Grarup, N. (Niels), Greiser, K.H. (Karin Halina), Haljas, K. (Kadri), Hansen, T. (Torben), Harris, S.E. (Sarah), Heemst, D. (Diana) van, Heijer, M. (Martin) den, Hicks, A.A. (Andrew A.), Hollander, W. (Wouter) den, Homuth, G. (Georg), Hui, J. (Jennie), Ikram, M.A. (Arfan), Ittermann, T. (Till), Jensen, R.A. (Richard A.), Jing, J. (Jiaojiao), Jukema, J.W. (Jan Wouter), Kajantie, E. (Eero), Kamatani, Y. (Yoichiro), Kasbohm, E. (Elisa), Kaufman, J.-M. (Jean-Marc), Kiemeney, L.A. (Lambertus A.), Kloppenburg, M. (Margreet), Kronenberg, F. (Florian), Kubo, M. (Michiaki), Lahti, J. (Jari), Lapauw, B. (Bruno), Li, S. (Shuo), Liewald, D.C.M. (David C. M.), Alizadeh, B.Z. (Behrooz), Boezen, H.M. (Marike), Franke, L. (Lude), van der Harst, P. (Pim), Navis, G. (Gerjan), Rots, M.G. (M.), Snieder, H. (Harold), Swertz, M.A. (Morris A.), Wijmenga, C. (Cisca), Lim, E.M. (Ee Mun), Linneberg, A. (Allan), Marina, M. (Michela), Mascalzoni, D. (Deborah), Matsuda, K. (Koichi), Medenwald, D. (Daniel), Meisinger, C. (Christa), Meulenbelt, I. (Ingrid), Meyer, T. (Thorsten), Meyer zu Schwabedissen, H.E. (Henriette E.), Mikolajczyk, R. (Rafael), Moed, H. (Heleen), Netea-Maier, R.T. (Romana), Nolte, I.M. (Ilja), Okada, Y. (Yukinori), Pala, M. (Mauro), Penninx, B.W.J.H., Pedersen, O. (Oluf), Petersmann, A. (Astrid), Porcu, E. (Eleonora), Postmus, D. (Douwe), Pramstaller, P.P. (Peter Paul), Psaty, B.M. (Bruce), Ramos, Y.F.M. (Yolande F. M.), Rawal, R. (Rajesh), Redmond, P. (Paul), Richards, J.B. (Brent), Rietzschel, E.R. (Ernst), Rivadeneira Ramirez, F. (Fernando), Roef, G.L. (Greet), Rotter, J.I. (Jerome I.), Sala, C. (Cinzia), Schlessinger, D. (David), Selvin, E. (Elizabeth), Slagboom, P.E. (Eline), Soranzo, N. (Nicole), Sørensen, T.I.A. (Thorkild), Spector, T.D. (Timothy), Starr, J.M. (John), Stott, D.J. (David. J.), Taes, Y.E. (Youri), Taliun, D. (Daniel), Tanaka, T. (Toshiko), Thuesen, L. (Leif), Tiller, D. (Daniel), Toniolo, D. (Daniela), Uitterlinden, A.G. (Andre G.), Visser, W.E. (Edward), Walsh, J.P. (John P.), Wilson, S.G. (Scott), Wolffenbuttel, B.H.R. (Bruce), Yang, Q. (Qiong Fang), Zheng, H.-F. (Hou-Feng), Cappola, A.R. (Anne), Peeters, R.P. (Robin), Naitza, S. (Silvia), Völzke, H. (Henry), Sanna, S. (Serena), Köttgen, A. (Anna), Visser, T.J. (Theo), Medici, M. (Marco), Teumer, A. (Alexander), Chaker, L. (Layal), Groeneweg, S. (Stefan), Li, Y. (Yong), Di Munno, C. (Celia), Barbieri, C. (Caterina), Schultheiss, U.T. (Ulla T.), Traglia, M. (Michela), Ahluwalia, T.S. (Tarunveer Singh), Akiyama, M. (Masato), Appel, E.V.R. (Emil Vincent R.), Arking, D.E. (Dan), Arnold, A.M. (Alice), Astrup, A. (Arne), Beekman, M. (Marian), Beilby, J.P. (John), Bekaert, S. (Sofie), Boerwinkle, E. (Eric), Brown, S.J. (Stephen), Buyzere, M. (Marc) de, Campbell, P.J. (Purdey J.), Ceresini, G. (Graziano), Cerqueira, C. (Charlotte), Cucca, F. (Francesco), Deary, I.J. (Ian), Deelen, J. (Joris), Eckardt, K.-U. (Kai-Uwe), Ekici, A.B. (Arif B.), Hagen, K. (Knut), Ferrrucci, L. (Luigi), Fiers, T. (Tom), Fiorillo, E. (Edoardo), Ford, I. (Ian), Fox, C.S. (Caroline), Fuchsberger, C. (Christian), Galesloot, T.E. (Tessel), Gieger, C. (Christian), Gögele, M. (Martin), Grandi, A. (Alessandro) de, Grarup, N. (Niels), Greiser, K.H. (Karin Halina), Haljas, K. (Kadri), Hansen, T. (Torben), Harris, S.E. (Sarah), Heemst, D. (Diana) van, Heijer, M. (Martin) den, Hicks, A.A. (Andrew A.), Hollander, W. (Wouter) den, Homuth, G. (Georg), Hui, J. (Jennie), Ikram, M.A. (Arfan), Ittermann, T. (Till), Jensen, R.A. (Richard A.), Jing, J. (Jiaojiao), Jukema, J.W. (Jan Wouter), Kajantie, E. (Eero), Kamatani, Y. (Yoichiro), Kasbohm, E. (Elisa), Kaufman, J.-M. (Jean-Marc), Kiemeney, L.A. (Lambertus A.), Kloppenburg, M. (Margreet), Kronenberg, F. (Florian), Kubo, M. (Michiaki), Lahti, J. (Jari), Lapauw, B. (Bruno), Li, S. (Shuo), Liewald, D.C.M. (David C. M.), Alizadeh, B.Z. (Behrooz), Boezen, H.M. (Marike), Franke, L. (Lude), van der Harst, P. (Pim), Navis, G. (Gerjan), Rots, M.G. (M.), Snieder, H. (Harold), Swertz, M.A. (Morris A.), Wijmenga, C. (Cisca), Lim, E.M. (Ee Mun), Linneberg, A. (Allan), Marina, M. (Michela), Mascalzoni, D. (Deborah), Matsuda, K. (Koichi), Medenwald, D. (Daniel), Meisinger, C. (Christa), Meulenbelt, I. (Ingrid), Meyer, T. (Thorsten), Meyer zu Schwabedissen, H.E. (Henriette E.), Mikolajczyk, R. (Rafael), Moed, H. (Heleen), Netea-Maier, R.T. (Romana), Nolte, I.M. (Ilja), Okada, Y. (Yukinori), Pala, M. (Mauro), Penninx, B.W.J.H., Pedersen, O. (Oluf), Petersmann, A. (Astrid), Porcu, E. (Eleonora), Postmus, D. (Douwe), Pramstaller, P.P. (Peter Paul), Psaty, B.M. (Bruce), Ramos, Y.F.M. (Yolande F. M.), Rawal, R. (Rajesh), Redmond, P. (Paul), Richards, J.B. (Brent), Rietzschel, E.R. (Ernst), Rivadeneira Ramirez, F. (Fernando), Roef, G.L. (Greet), Rotter, J.I. (Jerome I.), Sala, C. (Cinzia), Schlessinger, D. (David), Selvin, E. (Elizabeth), Slagboom, P.E. (Eline), Soranzo, N. (Nicole), Sørensen, T.I.A. (Thorkild), Spector, T.D. (Timothy), Starr, J.M. (John), Stott, D.J. (David. J.), Taes, Y.E. (Youri), Taliun, D. (Daniel), Tanaka, T. (Toshiko), Thuesen, L. (Leif), Tiller, D. (Daniel), Toniolo, D. (Daniela), Uitterlinden, A.G. (Andre G.), Visser, W.E. (Edward), Walsh, J.P. (John P.), Wilson, S.G. (Scott), Wolffenbuttel, B.H.R. (Bruce), Yang, Q. (Qiong Fang), Zheng, H.-F. (Hou-Feng), Cappola, A.R. (Anne), Peeters, R.P. (Robin), Naitza, S. (Silvia), Völzke, H. (Henry), Sanna, S. (Serena), Köttgen, A. (Anna), Visser, T.J. (Theo), and Medici, M. (Marco)

Abstract

Thyroid dysfunction is an important public health problem, which affects 10% of the general population and increases the risk of cardiovascular morbidity and mortality. Many aspects of thyroid hormone regulation have only partly been elucidated, including its transport, metabolism, and genetic determinants. Here we report a large meta-analysis of genome-wide association studies for thyroid function and dysfunction, testing 8 million genetic variants in up to 72,167 individuals. One-hundred-and-nine independent genetic variants are associated with these traits. A genetic risk score, calculated to assess their combined effects on clinical end points, shows significant associations with increased risk of both overt (Graves’ disease) and subclinical thyroid disease, as well as clinical complications. By functional follow-up on selected signals, we identify a novel thyroid hormone transporter (SLC17A4) and a metabolizing enzyme (AADAT). Together, these results provide new knowledge about thyroid hormone physiology and disease, opening new possibilities for therapeutic targets.

Published
2018
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23. Status, trends and future dynamics of biodiversity and ecosystems underpinning nature's contributions to people

Author

Ibrahim, F-H, Rawat, G.S., Yahara, T., Abi-Said, M., Corlett, R.T., Courchamp, F., Dai, R., Freitag, H., Haryoko, T., Hewitt, C.L., Hussain, T., Kadoya, T., Maheswaran, G., Miyashita, T., Mohan Kumar, B., Mohapatra, A., Nakashizuka, T., Piggott, J.J., Rawal, R., Sheppard, A., Shirayama, Y., Son, Y., Takamura, N., Thwin, S., Yamakita, T., Ibrahim, F-H, Rawat, G.S., Yahara, T., Abi-Said, M., Corlett, R.T., Courchamp, F., Dai, R., Freitag, H., Haryoko, T., Hewitt, C.L., Hussain, T., Kadoya, T., Maheswaran, G., Miyashita, T., Mohan Kumar, B., Mohapatra, A., Nakashizuka, T., Piggott, J.J., Rawal, R., Sheppard, A., Shirayama, Y., Son, Y., Takamura, N., Thwin, S., and Yamakita, T.

Abstract

Biodiversity at the species and ecosystem levels is currently under multiple threats almost everywhere in the Asia-Pacific region, and in many areas the situation is now critical (well established). Of the various ecosystems, lowland evergreen forests, alpine ecosystems, limestone karsts, inland wetlands, and estuarine and coastal habitats are most threatened (well established). Genetic diversity within species, both wild and domestic, is also decreasing in many cases as a result of decreasing ranges (established but incomplete). In several countries there has been a small increase in the forest cover which is mostly attributed to monoculture forestry plantations and enabling policies of the governments. Forest fires associated with rapid loss of forest cover is leading to enormous environmental and socio-economic loss (well established) {3.2.1; 3.2.2; 3.2.3; 3.2.4; 3.2.5; 3.3.1}. There has been a steady decline in the populations of large vertebrates due to poaching and illegal trade in wildlife parts and products in the Asia-Pacific region (well established). As a result, most of these species now survive only in the best-managed protected areas (well established). Widespread loss of large vertebrates has had a measureable impact on several forest functions and services, including seed dispersal (established but incomplete). Australia has the highest rate of mammal extinction (>10 per cent) of any continent globally. Bird extinctions on individual Pacific islands range from 15.4 per cent to 87.5 per cent for those with good fossil records, and these extinctions have resulted in the loss of many ecological functions previously performed by birds (well established). Besides wildlife, there is a massive regional trade in timber, traditional medicines and other products (well established). Without adequate protection, remediation and proper policies, the current decline in biodiversity and nature's contributions to people on land, in freshwaters, and in the sea will t

Published
2018

24. Meta-analysis of exome array data identifies six novel genetic loci for lung function.

Author

Jackson, VE, Latourelle, JC, Wain, LV, Smith, AV, Grove, ML, Bartz, TM, Obeidat, M, Province, MA, Gao, W, Qaiser, B, Porteous, DJ, Cassano, PA, Ahluwalia, TS, Grarup, N, Li, J, Altmaier, E, Marten, J, Harris, SE, Manichaikul, A, Pottinger, TD, Li-Gao, R, Lind-Thomsen, A, Mahajan, A, Lahousse, L, Imboden, M, Teumer, A, Prins, B, Lyytikäinen, L-P, Eiriksdottir, G, Franceschini, N, Sitlani, CM, Brody, JA, Bossé, Y, Timens, W, Kraja, A, Loukola, A, Tang, W, Liu, Y, Bork-Jensen, J, Justesen, JM, Linneberg, A, Lange, LA, Rawal, R, Karrasch, S, Huffman, JE, Smith, BH, Davies, G, Burkart, KM, Mychaleckyj, JC, Bonten, TN, Enroth, S, Lind, L, Brusselle, GG, Kumar, A, Stubbe, B, Understanding Society Scientific Group, Kähönen, M, Wyss, AB, Psaty, BM, Heckbert, SR, Hao, K, Rantanen, T, Kritchevsky, SB, Lohman, K, Skaaby, T, Pisinger, C, Hansen, T, Schulz, H, Polasek, O, Campbell, A, Starr, JM, Rich, SS, Mook-Kanamori, DO, Johansson, Å, Ingelsson, E, Uitterlinden, AG, Weiss, S, Raitakari, OT, Gudnason, V, North, KE, Gharib, SA, Sin, DD, Taylor, KD, O'Connor, GT, Kaprio, J, Harris, TB, Pederson, O, Vestergaard, H, Wilson, JG, Strauch, K, Hayward, C, Kerr, S, Deary, IJ, Barr, RG, de Mutsert, R, Gyllensten, U, Morris, AP, Ikram, MA, Probst-Hensch, N, Gläser, S, Zeggini, E, Lehtimäki, T, Strachan, DP, Dupuis, J, Morrison, AC, Hall, IP, Tobin, MD, London, SJ, Jackson, VE, Latourelle, JC, Wain, LV, Smith, AV, Grove, ML, Bartz, TM, Obeidat, M, Province, MA, Gao, W, Qaiser, B, Porteous, DJ, Cassano, PA, Ahluwalia, TS, Grarup, N, Li, J, Altmaier, E, Marten, J, Harris, SE, Manichaikul, A, Pottinger, TD, Li-Gao, R, Lind-Thomsen, A, Mahajan, A, Lahousse, L, Imboden, M, Teumer, A, Prins, B, Lyytikäinen, L-P, Eiriksdottir, G, Franceschini, N, Sitlani, CM, Brody, JA, Bossé, Y, Timens, W, Kraja, A, Loukola, A, Tang, W, Liu, Y, Bork-Jensen, J, Justesen, JM, Linneberg, A, Lange, LA, Rawal, R, Karrasch, S, Huffman, JE, Smith, BH, Davies, G, Burkart, KM, Mychaleckyj, JC, Bonten, TN, Enroth, S, Lind, L, Brusselle, GG, Kumar, A, Stubbe, B, Understanding Society Scientific Group, Kähönen, M, Wyss, AB, Psaty, BM, Heckbert, SR, Hao, K, Rantanen, T, Kritchevsky, SB, Lohman, K, Skaaby, T, Pisinger, C, Hansen, T, Schulz, H, Polasek, O, Campbell, A, Starr, JM, Rich, SS, Mook-Kanamori, DO, Johansson, Å, Ingelsson, E, Uitterlinden, AG, Weiss, S, Raitakari, OT, Gudnason, V, North, KE, Gharib, SA, Sin, DD, Taylor, KD, O'Connor, GT, Kaprio, J, Harris, TB, Pederson, O, Vestergaard, H, Wilson, JG, Strauch, K, Hayward, C, Kerr, S, Deary, IJ, Barr, RG, de Mutsert, R, Gyllensten, U, Morris, AP, Ikram, MA, Probst-Hensch, N, Gläser, S, Zeggini, E, Lehtimäki, T, Strachan, DP, Dupuis, J, Morrison, AC, Hall, IP, Tobin, MD, and London, SJ

Abstract

Background: Over 90 regions of the genome have been associated with lung function to date, many of which have also been implicated in chronic obstructive pulmonary disease. Methods: We carried out meta-analyses of exome array data and three lung function measures: forced expiratory volume in one second (FEV 1), forced vital capacity (FVC) and the ratio of FEV 1 to FVC (FEV 1/FVC). These analyses by the SpiroMeta and CHARGE consortia included 60,749 individuals of European ancestry from 23 studies, and 7,721 individuals of African Ancestry from 5 studies in the discovery stage, with follow-up in up to 111,556 independent individuals. Results: We identified significant (P<2·8x10 -7) associations with six SNPs: a nonsynonymous variant in RPAP1, which is predicted to be damaging, three intronic SNPs ( SEC24C, CASC17 and UQCC1) and two intergenic SNPs near to LY86 and FGF10. Expression quantitative trait loci analyses found evidence for regulation of gene expression at three signals and implicated several genes, including TYRO3 and PLAU. Conclusions: Further interrogation of these loci could provide greater understanding of the determinants of lung function and pulmonary disease.

Published
2018

25. Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

Author

Teumer, A, Chaker, Layal, Groeneweg, Stefan, Li, Yi, Di Munno, Celia, Barbieri, C, Schultheiss, UT, Traglia, M, Ahluwalia, TS, Akiyama, M, Appel, EVR, Arking, DE, Arnold, A, Astrup, A, Beekman, M, Beilby, JP, Bekaert, S, Boerwinkle, E, Brown, SJ, de Buyzere, M, Campbell, PJ, Ceresini, G, Cerqueira, C, Cucca, F, Deary, IJ, Deelen, J, Eckardt, KU, Ekici, AB, Eriksson, JG, Ferrrucci, L, Fiers, T, Fiorillo, E, Ford, I, Fox, CS, Fuchsberger, C, Galesloot, TE, Gieger, C, Gogele, M, De Grandi, A, Grarup, N, Greiser, KH, Haljas, K, Hansen, T, Harris, SE, van Heemst, D, Heijer, M, Hicks, AA, den Hollander, W, Homuth, G, Hui, JN, Ikram, Arfan, Ittermann, T, Jensen, RA, Jing, J, Jukema, JW, Kajalltie, E, Kamatani, Y, Kasbohm, E, Kaufman, JM, Kiemeney, LA, Kloppenburg, M, Kronenberg, F, Kubo, M, Lahti, J, Lapauw, B, Li, S, Liewald, DCM, Lim, EM, Linneberg, A, Marina, M, Mascalzoni, D, Matsuda, K, Medenwald, D, Meisinger, C, Meulenbelt, I, Meyer, T, zu Schwabedissen, HEM, Mikolajczyk, R, Moed, M, Netea-Maier, RT, Nolte, IM, Okadah, Y, Pala, M, Pattaro, C, Pedersen, O, Petersmann, A, Porcu, E, Postmus, I, Pramstaller, PP, Psaty, BM, Ramos, YFM, Rawal, R, Redmond, P, Richards, JB, Rietzschel, ER, Rivadeneira, Fernando, Roef, G, Rotter, JI, Sala, CF, Schlessinger, D, Selvin, E, Slagboom, PE (Eline), Soranzo, N, Sorensen, TIA, Spector, TD, Starr, JM, Stott, DJ, Taes, Y, Taliun, D, Tanaka, T, Thuesen, B, Tiller, D, Toniolo, D, Uitterlinden, André, Visser, Edward, Walsh, JP, Wilson, SG, Wolffenbuttel, BHR, Yang, Q, Zheng, HF, Cappola, A, Peeters, Robin, Naitza, S, Volzke, H, Sanna, S, Kottgen, A, Visser, Theo, Medici, Marco, Teumer, A, Chaker, Layal, Groeneweg, Stefan, Li, Yi, Di Munno, Celia, Barbieri, C, Schultheiss, UT, Traglia, M, Ahluwalia, TS, Akiyama, M, Appel, EVR, Arking, DE, Arnold, A, Astrup, A, Beekman, M, Beilby, JP, Bekaert, S, Boerwinkle, E, Brown, SJ, de Buyzere, M, Campbell, PJ, Ceresini, G, Cerqueira, C, Cucca, F, Deary, IJ, Deelen, J, Eckardt, KU, Ekici, AB, Eriksson, JG, Ferrrucci, L, Fiers, T, Fiorillo, E, Ford, I, Fox, CS, Fuchsberger, C, Galesloot, TE, Gieger, C, Gogele, M, De Grandi, A, Grarup, N, Greiser, KH, Haljas, K, Hansen, T, Harris, SE, van Heemst, D, Heijer, M, Hicks, AA, den Hollander, W, Homuth, G, Hui, JN, Ikram, Arfan, Ittermann, T, Jensen, RA, Jing, J, Jukema, JW, Kajalltie, E, Kamatani, Y, Kasbohm, E, Kaufman, JM, Kiemeney, LA, Kloppenburg, M, Kronenberg, F, Kubo, M, Lahti, J, Lapauw, B, Li, S, Liewald, DCM, Lim, EM, Linneberg, A, Marina, M, Mascalzoni, D, Matsuda, K, Medenwald, D, Meisinger, C, Meulenbelt, I, Meyer, T, zu Schwabedissen, HEM, Mikolajczyk, R, Moed, M, Netea-Maier, RT, Nolte, IM, Okadah, Y, Pala, M, Pattaro, C, Pedersen, O, Petersmann, A, Porcu, E, Postmus, I, Pramstaller, PP, Psaty, BM, Ramos, YFM, Rawal, R, Redmond, P, Richards, JB, Rietzschel, ER, Rivadeneira, Fernando, Roef, G, Rotter, JI, Sala, CF, Schlessinger, D, Selvin, E, Slagboom, PE (Eline), Soranzo, N, Sorensen, TIA, Spector, TD, Starr, JM, Stott, DJ, Taes, Y, Taliun, D, Tanaka, T, Thuesen, B, Tiller, D, Toniolo, D, Uitterlinden, André, Visser, Edward, Walsh, JP, Wilson, SG, Wolffenbuttel, BHR, Yang, Q, Zheng, HF, Cappola, A, Peeters, Robin, Naitza, S, Volzke, H, Sanna, S, Kottgen, A, Visser, Theo, and Medici, Marco

Published
2018

26. Comparative in vitro antioxidant activity, morphological and phytochemical profiling of traditional crops from Kumaun Himalaya

Author

Bungla, P. S., Tewari, G., Rawal, R. S., Bhatt, I. D., Tewari, L. M., Arun K. Jugran, and Mohan, B.

Subjects
traditional crops, phenolics, Kuloor watershed, morphological, antioxidant activity, Phytochemical
Abstract

Department of Botany, Department of Chemistry, D. S. B. Campus, Kumaun University, Nainital-263 001 Uttarakhand, India E-mail : geeta_k@rediffmail.com Fax : 91-5942-235576 G. B. Pant National Institute of Himalayan Environment and Sustainable Development, Kosi-Katarmal, Almora-263 643, Uttarakhand, India Manuscript received online 17 October 2014, accepted 06 October 2016 The phytochemical attributes including proteins, carbohydrates and phenolic content of paddy landraces, millets, pulses, spice and oil yielding crop have been investigated along with the morphological properties of nineteen paddy landraces. In vitro antioxidant activity was assessed by ABTS, DPPH radical scavenging method and FRAP assay. The morphological characters varied significantly. Hordeum vulgare, Panicum glaucum, Setaria italic and Panicum miliaceum were having much higher protein and carbohydrate contents as compared to most of the studied landraces of paddy. ABTS activity ranged between 0.24 and 354.06 mM/100 AAE while DPPH from 9.00 to 107.90 mM/100 AAE. FRAP assay ranged between 0.016 to 383.20 mM/100 AAE. Badpas rice had the highest ABTS (354.06), DPPH (107.90) and FRAP (383.20) activity. Among millets, Hordeum vulgarehad the highest antioxidant activity whereas lowest activity was observed for Panicum miliaceum and Setaria italic. Antioxidant activity of paddy landraces, pulses and oil yielding crop were positively and significantly correlated to the total phenolic content.

Published
2017
Full Text
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27. Evidence for large-scale gene-by-smoking interaction effects on pulmonary function

Author

Aschard, H. (Hugues), Tobin, M. D. (Martin D), Hancock, D. B. (Dana B), Skurnik, D. (David), Sood, A. (Akshay), James, A. (Alan), Smith, A. V. (Albert Vernon), Manichaikul, A. W. (Ani W), Campbell, A. (Archie), Prins, B. P. (Bram P), Hayward, C. (Caroline), Loth, D. W. (Daan W), Porteous, D. J. (David J), Strachan, D. P. (David P), Zeggini, E. (Eleftheria), O’Connor, G. T. (George T), Brusselle, G. G. (Guy G), Boezen, H. M. (H Marike), Schulz, H. (Holger), Deary, I. J. (Ian J), Hall, I. P. (Ian P), Rudan, I. (Igor), Kaprio, J. (Jaakko), Wilson, J. F. (James F), Wilk, J. B. (Jemma B), Huffman, J. E. (Jennifer E), Zhao, J. H. (Jing Hua), de Jong, K. (Kim), Lyytikäinen, L.-P. (Leo-Pekka), Wain, L. V. (Louise V), Järvelin, M.-R. (Marjo-Riitta), Kähönen, M. (Mika), Fornage, M. (Myriam), Polasek, O. (Ozren), Cassano, P. A. (Patricia A), Barr, R. G. (R Graham), Rawal, R. (Rajesh), Harris, S. E. (Sarah E), Gharib, S. A. (Sina A), Enroth, S. (Stefan), Heckbert, S. R. (Susan R), Lehtimäki, T. (Terho), Gyllensten, U. (Ulf), Understanding Society Scientific Group, Jackson, V. E. (Victoria E), Gudnason, V. (Vilmundur), Tang, W. (Wenbo), Dupuis, J. (Josée), Artigas, M. S. (María Soler), Joshi, A. D. (Amit D), London, S. J. (Stephanie J), Kraft, P. (Peter), Groningen Research Institute for Asthma and COPD (GRIAC), and Life Course Epidemiology (LCE)

Subjects
RISK, Medicin och hälsovetenskap, Science & Technology, PREDICTION, 0104 Statistics, respiratory system, genetic risk score, Medical and Health Sciences, DISEASE, smoking, gene-environment interaction, respiratory tract diseases, LUNG-FUNCTION, OPPORTUNITIES, 1117 Public Health And Health Services, FEV1/FVC, EPIDEMIOLOGY, OBSTRUCTION, GENOME-WIDE ASSOCIATION, ENVIRONMENT INTERACTIONS, gene–environment interaction, Life Sciences & Biomedicine, Public, Environmental & Occupational Health
Abstract

Background: Smoking is the strongest environmental risk factor for reduced pulmonary function. The genetic component of various pulmonary traits has also been demonstrated, and at least 26 loci have been reproducibly associated with either FEV1 (forced expiratory volume in 1 second) or FEV1/FVC (FEV1/forced vital capacity). Although the main effects of smoking and genetic loci are well established, the question of potential gene-by-smoking interaction effect remains unanswered. The aim of the present study was to assess, using a genetic risk score approach, whether the effect of these 26 loci on pulmonary function is influenced by smoking. Methods: We evaluated the interaction between smoking exposure, considered as either ever vs never or pack-years, and a 26-single nucleotide polymorphisms (SNPs) genetic risk score in relation to FEV1 or FEV1/FVC in 50 047 participants of European ancestry from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) and SpiroMeta consortia. Results: We identified an interaction (βint = −0.036, 95% confidence interval, −0.040 to −0.032, P = 0.00057) between an unweighted 26 SNP genetic risk score and smoking status (ever/never) on the FEV1/FVC ratio. In interpreting this interaction, we showed that the genetic risk of falling below the FEV1/FVC threshold used to diagnose chronic obstructive pulmonary disease is higher among ever smokers than among never smokers. A replication analysis in two independent datasets, although not statistically significant, showed a similar trend in the interaction effect. Conclusions: This study highlights the benefit of using genetic risk scores for identifying interactions missed when studying individual SNPs and shows, for the first time, that persons with the highest genetic risk for low FEV1/FVC may be more susceptible to the deleterious effects of smoking.

Published
2017

28. KLB is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference

Author

Schumann, G, Liu, C, O'Reilly, P, Gao, H, Song, P, Xu, B, Ruggeri, B, Amin, N, Jia, T, Preis, S, Lepe, MS, Akira, S, Barbieri, C, Baumeister, S, Cauchi, S, Clarke, TK, Enroth, S, Fischer, K, Hällfors, J, Harris, SE, Hieber, S, Hofer, E, Hottenga, JJ, Johansson, Å, Joshi, PK, Kaartinen, N, Laitinen, J, Lemaitre, R, Loukola, A, Luan, J, Lyytikäinen, LP, Mangino, M, Manichaikul, A, Mbarek, H, Milaneschi, Y, Moayyeri, A, Mukamal, K, Nelson, C, Nettleton, J, Partinen, E, Rawal, R, Robino, A, Rose, L, Sala, C, Satoh, T, Schmidt, R, Schraut, K, Scott, R, Smith, AV, Starr, JM, Teumer, A, Trompet, S, Uitterlinden, AG, Venturini, C, Vergnaud, AC, Verweij, N, Vitart, V, Vuckovic, D, Wedenoja, J, Yengo, L, Yu, B, Zhang, W, Zhao, JH, Boomsma, DI, Chambers, J, Chasman, DI, Daniela, T, De Geus, E, Deary, I, Eriksson, JG, Esko, T, and Eulenburg, V

Abstract

Excessive alcohol consumption is a major public health problem worldwide. Although drinking habits are known to be inherited, few genes have been identified that are robustly linked to alcohol drinking. We conducted a genome-wide association metaanalysis and replication study among > 105,000 individuals of European ancestry and identified β-Klotho (KLB) as a locus associated with alcohol consumption (rs11940694; P = 9.2 × 10-12). β-Klotho is an obligate coreceptor for the hormone FGF21, which is secreted from the liver and implicated in macronutrient preference in humans. We show that brain-specific β-Klotho KO mice have an increased alcohol preference and that FGF21 inhibits alcohol drinking by acting on the brain. These data suggest that a liver-brain endocrine axis may play an important role in the regulation of alcohol drinking behavior and provide a unique pharmacologic target for reducing alcohol consumption.

Published
2016

29. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits

Author

Justice, A.E. (Anne), Winkler, T.W. (Thomas W.), Feitosa, M.F., Graff, M.J. (Maud J.L.), Fisher, V.A. (Virginia A.), Young, K. (Kristin), Barata, L. (Llilda), Deng, X. (Xuan), Czajkowski, J. (Jacek), Hadley, D. (David), Ngwa, J.S. (Julius S.), Ahluwalia, T.S. (Tarunveer Singh), Chu, A.Y. (Audrey Y), Heard-Costa, N.L. (Nancy), Lim, E. (Elise), Perez, J. (Jeremiah), Eicher, J.D. (John D.), Kutalik, Z. (Zoltán), Xue, L. (Luting), Mahajan, A. (Anubha), Renström, F. (Frida), Wu, J.M.W. (Joseph M. W.), Qi, Q., Ahmad, S. (Shafqat), Alfred, T. (Tamuno), Amin, N. (Najaf), Bielak, L.F. (Lawrence F.), Bonnefond, A. (Amélie), Bragg-Gresham, J.L. (Jennifer L.), Cadby, G. (Gemma), Chittani, M. (Martina), Coggeshall, S. (Scott), Corre, T. (Tanguy), Direk, N. (Nese), Eriksson, J. (Joel), Fischer, K. (Krista), Gorski, M. (Mathias), Harder, M.N. (Marie Neergaard), Horikoshi, M. (Momoko), Huang, T. (Tao), Huffman, J.E. (Jennifer), Jackson, A.U. (Anne), Justesen, J.M. (Johanne M.), Kanoni, S. (Stavroula), Kinnunen, L. (Leena), Kleber, M.E. (Marcus), Komulainen, P. (Pirjo), Kumari, M. (Meena), Lim, U. (Unhee), Luan, J., Lyytikäinen, L.-P. (Leo-Pekka), Mangino, M. (Massimo), Manichaikul, A. (Ani), Marten, J. (Jonathan), Middelberg, R.P.S. (Rita), Müller-Nurasyid, M. (Martina), Navarro, P. (Pau), Perusse, L. (Louis), Pervjakova, N. (Natalia), Sarti, C. (Cinzia), Smith, A.V. (Albert), Smith, J.A. (Jennifer A), Stanča'kova, A. (Alena), Strawbridge, R.J. (Rona), Stringham, H.M. (Heather M.), Sung, Y.J. (Yun Ju), Tanaka, T. (Toshiko), Teumer, A. (Alexander), Trompet, S. (Stella), Van Der Laan, S.W. (Sander W.), Most, P.J. (Peter) van der, Vliet-Ostaptchouk, J.V. (Jana) van, Vedantam, S. (Sailaja), Verweij, N. (Niek), Vink, J.M. (Jacqueline), Vitart, V. (Veronique), Wu, Y. (Ying), Yengo, L. (Loic), Zhang, W. (Weihua), Zhao, J.H. (Jing Hua), Zimmermann, M.E. (Martina E.), Zubair, N. (Niha), Abecasis, G.R. (Gonçalo), Adair, L.S. (Linda S.), Afaq, S. (Saima), Afzal, U. (Uzma), Bakker, S.J.L. (Stephan), Bartz, T.M. (Traci M.), Beilby, J.P. (John), Bergman, R.N. (Richard), Bergmann, S. (Sven), Biffar, R. (Reiner), Blangero, J. (John), Boerwinkle, E.A. (Eric), Bonnycastle, L.L. (Lori), Bottinger, E.P. (Erwin), Braga, D. (Daniele), Buckley, B.M. (Brendan M.), Buyske, S. (Steven), Campbell, H. (Harry), Chambers, J.C. (John C.), Collins, F.S. (Francis), Curran, J.E. (Joanne), Borst, G.J. (Gert) de, Craen, A.J. (Anton) de, Geus, E.J.C. (Eco) de, Dedoussis, G.V. (George), Delgado, G., Ruijter, H.M. (Hester ) den, Eiriksdottir, G. (Gudny), Eriksson, A.L. (Anna L.), Esko, T. (Tõnu), Faul, J.D. (Jessica D.), Ford, I. (Ian), Forrester, T. (Terrence), Gertow, K. (Karl), Gigante, B. (Bruna), Glorioso, N. (Nicola), Gong, J. (Jian), Grallert, H. (Harald), Grammer, T.B. (Tanja), Grarup, N. (Niels), Haitjema, S. (Saskia), Hallmans, G. (Göran), Hamsten, A. (Anders), Hansen, T. (Torben), Harris, T.B. (Tamara), Hartman, C.A. (C.), Hassinen, M. (Maija), Hastie, N. (Nick), Heath, A.C. (Andrew), Hernandez, D.G. (Dena), Hindorff, L.A. (Lucia A), Hocking, L.J., Hollensted, M. (Mette), Holmen, O.L. (Oddgeir L.), Homuth, G. (Georg), Hottenga, J.J. (Jouke Jan), Huang, J. (Jian), Hung, J. (Joseph), Hutri-Kähönen, N. (Nina), Ingelsson, E. (Erik), James, A. (Alan), Jansson, J.-O. (John-Olov), Jarvelin, M.-R. (Marjo-Riitta), Jhun, M.A. (Min A.), Jørgensen, M.E. (Marit E.), Juonala, M. (Markus), Kähönen, M. (Mika), Karlsson, M. (Magnus), Koistinen, H.A. (Heikki A.), Kolcic, I. (Ivana), Kolovou, G. (Genovefa), Kooperberg, C. (Charles), Krämer, B.K. (Bernhard), Kuusisto, J. (Johanna), Kvaløy, K. (Kirsti), Lakka, T.A. (Timo), Langenberg, C. (Claudia), Launer, L.J. (Lenore), Leander, K. (Karin), Lee, N.R. (Nanette R.), Kao, W.H.L. (Wen), Lindgren, C.M. (Cecilia M.), Linneberg, A. (Allan), Lobbens, S. (Stéphane), Loh, M. (Marie), Lorentzon, M. (Mattias), Luben, R. (Robert), Lubke, G.H. (Gitta), Ludolph-Donislawski, A. (Anja), Lupoli, S. (Sara), Madden, P.A. (Pamela), Männikkö, R. (Reija), Marques-Vidal, P. (Pedro), Martin, N.G. (Nicholas), McKenzie, C.A. (Colin), McKnight, B. (Barbara), Mellström, D. (Dan), Menni, C. (Cristina), Montgomery, G.W. (Grant W.), Musk, A.W. (Arthur), Narisu, N. (Narisu), Nauck, M. (Matthias), Nolte, I.M. (Ilja), Oldehinkel, A.J. (Albertine), Olden, M. (Matthias), Ong, K.K. (Ken K.), Padmanabhan, S. (Sandosh), Peyser, P.A. (Patricia A.), Pisinger, C. (Charlotta), Porteous, D.J. (David J.), Raitakari, O.T. (Olli T.), Rankinen, T. (Tuomo), Rao, D.C. (D. C.), Rasmussen-Torvik, L.J. (Laura), Rawal, R. (Rajesh), Rice, T.K. (Treva K.), Ridker, P.M. (Paul), Rose, L.M. (Lynda M.), Bien, S.A. (Stephanie A.), Rudan, I. (Igor), Sanna, S. (Serena), Sarzynski, M.A. (Mark A.), Sattar, N. (Naveed), Savonen, K. (Kai), Schlessinger, D. (David), Scholtens, S. (Salome), Schurmann, C. (Claudia), Scott, R.A. (Robert), Sennblad, B. (Bengt), Siemelink, M.A. (Marten A.), Silbernagel, G. (Günther), Slagboom, P.E. (Eline), Snieder, H. (Harold), Staessen, J.A. (Jan A.), Stott, D.J. (David. J.), Swertz, M.A. (Morris A.), Swift, A.J. (Amy), Taylor, K.D. (Kent), Tayo, B. (Bamidele), Thorand, B. (Barbara), Thuillier, D. (Dorothee), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Vandenput, L. (Liesbeth), Vohl, M.-C. (Marie-Claude), Völzke, H. (Henry), Vonk, J.M. (Judith), Waeber, G. (Gérard), Waldenberger, M. (Melanie), Westendorp, R.G.J. (Rudi), Wild, S.H. (Sarah), Willemsen, G., Wolffenbuttel, B.H.R. (Bruce), Wong, A. (Andrew), Wright, A.F. (Alan), Zhao, W. (Wei), Zillikens, M.C. (Carola), Baldassarre, D. (Damiano), Balkau, B. (Beverley), Bandinelli, S. (Stefania), Böger, C.A. (Carsten), Boomsma, D.I. (Dorret), Bouchard, C. (Claude), Bruinenberg, M. (M.), Chasman, D.I. (Daniel), Ida Chen, Y.-D. (Yii-Der), Chines, P.S. (Peter), Cooper, R.S. (Richard S.), Cucca, F. (Francesco), Cusi, D. (Daniele), Faire, U. (Ulf) de, Ferrucci, L. (Luigi), Franks, P.W. (Paul), Froguel, P. (Philippe), Gordon-Larsen, P. (Penny), Grabe, H.J. (Hans Jörgen), Gudnason, V. (Vilmundur), Haiman, C.A. (Christopher), Hayward, C. (Caroline), Hveem, K. (Kristian), Johnson, A.D. (Andrew D.), Jukema, J.W. (Jan Wouter), Kardia, S.L.R. (Sharon), Kivimaki, M. (Mika), Kooner, J.S. (Jaspal S.), Kuh, D. (Diana), Laakso, M. (Markku), Lehtimäki, T. (Terho), Le Marchand, L. (Loic), März, W. (Winfried), McCarthy, M.I. (Mark), Metspalu, A. (Andres), Morris, A.P. (Andrew), Ohlsson, C. (Claes), Palmer, L.J. (Lyle J.), Pasterkamp, G. (Gerard), Pedersen, O. (Oluf), Peters, A. (Annette), Peters, U. (Ulrike), Polasek, O. (Ozren), Psaty, B.M. (Bruce M.), Qi, L. (Lu), Rauramaa, R. (Rainer), Smith, B.H. (Blair), Sørensen, T.I.A. (Thorkild), Strauch, K. (Konstantin), Tiemeier, H.W. (Henning), Tremoli, E. (Elena), Van Der Harst, P. (Pim), Vestergaard, H. (Henrik), Vollenweider, P. (Peter), Wareham, N.J. (Nick), Weir, D.R. (David), Whitfield, J. (John), Wilson, J.F. (James F.), Tyrrell, A.W.R., Frayling, T.M. (Timothy M.), Barroso, I.E. (Inês), Boehnke, M. (Michael), Deloukas, P. (Panagiotis), Fox, C.S. (Caroline), Hirschhorn, J.N. (Joel), Hunter, D.J. (David J.), Spector, T.D. (Timothy), Strachan, D.P. (David), Duijn, C.M. (Cornelia) van, Heid, I.M. (Iris), Mohlke, K.L. (Karen), Marchini, J. (Jonathan), Loos, R.J.F. (Ruth), Kilpeläinen, T.O. (Tuomas), Liu, C.-T. (Ching-Ti), Borecki, I.B. (Ingrid), North, K.E. (Kari), Cupples, L.A. (Adrienne), Justice, A.E. (Anne), Winkler, T.W. (Thomas W.), Feitosa, M.F., Graff, M.J. (Maud J.L.), Fisher, V.A. (Virginia A.), Young, K. (Kristin), Barata, L. (Llilda), Deng, X. (Xuan), Czajkowski, J. (Jacek), Hadley, D. (David), Ngwa, J.S. (Julius S.), Ahluwalia, T.S. (Tarunveer Singh), Chu, A.Y. (Audrey Y), Heard-Costa, N.L. (Nancy), Lim, E. (Elise), Perez, J. (Jeremiah), Eicher, J.D. (John D.), Kutalik, Z. (Zoltán), Xue, L. (Luting), Mahajan, A. (Anubha), Renström, F. (Frida), Wu, J.M.W. (Joseph M. W.), Qi, Q., Ahmad, S. (Shafqat), Alfred, T. (Tamuno), Amin, N. (Najaf), Bielak, L.F. (Lawrence F.), Bonnefond, A. (Amélie), Bragg-Gresham, J.L. (Jennifer L.), Cadby, G. (Gemma), Chittani, M. (Martina), Coggeshall, S. (Scott), Corre, T. (Tanguy), Direk, N. (Nese), Eriksson, J. (Joel), Fischer, K. (Krista), Gorski, M. (Mathias), Harder, M.N. (Marie Neergaard), Horikoshi, M. (Momoko), Huang, T. (Tao), Huffman, J.E. (Jennifer), Jackson, A.U. (Anne), Justesen, J.M. (Johanne M.), Kanoni, S. (Stavroula), Kinnunen, L. (Leena), Kleber, M.E. (Marcus), Komulainen, P. (Pirjo), Kumari, M. (Meena), Lim, U. (Unhee), Luan, J., Lyytikäinen, L.-P. (Leo-Pekka), Mangino, M. (Massimo), Manichaikul, A. (Ani), Marten, J. (Jonathan), Middelberg, R.P.S. (Rita), Müller-Nurasyid, M. (Martina), Navarro, P. (Pau), Perusse, L. (Louis), Pervjakova, N. (Natalia), Sarti, C. (Cinzia), Smith, A.V. (Albert), Smith, J.A. (Jennifer A), Stanča'kova, A. (Alena), Strawbridge, R.J. (Rona), Stringham, H.M. (Heather M.), Sung, Y.J. (Yun Ju), Tanaka, T. (Toshiko), Teumer, A. (Alexander), Trompet, S. (Stella), Van Der Laan, S.W. (Sander W.), Most, P.J. (Peter) van der, Vliet-Ostaptchouk, J.V. (Jana) van, Vedantam, S. (Sailaja), Verweij, N. (Niek), Vink, J.M. (Jacqueline), Vitart, V. (Veronique), Wu, Y. (Ying), Yengo, L. (Loic), Zhang, W. (Weihua), Zhao, J.H. (Jing Hua), Zimmermann, M.E. (Martina E.), Zubair, N. (Niha), Abecasis, G.R. (Gonçalo), Adair, L.S. (Linda S.), Afaq, S. (Saima), Afzal, U. (Uzma), Bakker, S.J.L. (Stephan), Bartz, T.M. (Traci M.), Beilby, J.P. (John), Bergman, R.N. (Richard), Bergmann, S. (Sven), Biffar, R. (Reiner), Blangero, J. (John), Boerwinkle, E.A. (Eric), Bonnycastle, L.L. (Lori), Bottinger, E.P. (Erwin), Braga, D. (Daniele), Buckley, B.M. (Brendan M.), Buyske, S. (Steven), Campbell, H. (Harry), Chambers, J.C. (John C.), Collins, F.S. (Francis), Curran, J.E. (Joanne), Borst, G.J. (Gert) de, Craen, A.J. (Anton) de, Geus, E.J.C. (Eco) de, Dedoussis, G.V. (George), Delgado, G., Ruijter, H.M. (Hester ) den, Eiriksdottir, G. (Gudny), Eriksson, A.L. (Anna L.), Esko, T. (Tõnu), Faul, J.D. (Jessica D.), Ford, I. (Ian), Forrester, T. (Terrence), Gertow, K. (Karl), Gigante, B. (Bruna), Glorioso, N. (Nicola), Gong, J. (Jian), Grallert, H. (Harald), Grammer, T.B. (Tanja), Grarup, N. (Niels), Haitjema, S. (Saskia), Hallmans, G. (Göran), Hamsten, A. (Anders), Hansen, T. (Torben), Harris, T.B. (Tamara), Hartman, C.A. (C.), Hassinen, M. (Maija), Hastie, N. (Nick), Heath, A.C. (Andrew), Hernandez, D.G. (Dena), Hindorff, L.A. (Lucia A), Hocking, L.J., Hollensted, M. (Mette), Holmen, O.L. (Oddgeir L.), Homuth, G. (Georg), Hottenga, J.J. (Jouke Jan), Huang, J. (Jian), Hung, J. (Joseph), Hutri-Kähönen, N. (Nina), Ingelsson, E. (Erik), James, A. (Alan), Jansson, J.-O. (John-Olov), Jarvelin, M.-R. (Marjo-Riitta), Jhun, M.A. (Min A.), Jørgensen, M.E. (Marit E.), Juonala, M. (Markus), Kähönen, M. (Mika), Karlsson, M. (Magnus), Koistinen, H.A. (Heikki A.), Kolcic, I. (Ivana), Kolovou, G. (Genovefa), Kooperberg, C. (Charles), Krämer, B.K. (Bernhard), Kuusisto, J. (Johanna), Kvaløy, K. (Kirsti), Lakka, T.A. (Timo), Langenberg, C. (Claudia), Launer, L.J. (Lenore), Leander, K. (Karin), Lee, N.R. (Nanette R.), Kao, W.H.L. (Wen), Lindgren, C.M. (Cecilia M.), Linneberg, A. (Allan), Lobbens, S. (Stéphane), Loh, M. (Marie), Lorentzon, M. (Mattias), Luben, R. (Robert), Lubke, G.H. (Gitta), Ludolph-Donislawski, A. (Anja), Lupoli, S. (Sara), Madden, P.A. (Pamela), Männikkö, R. (Reija), Marques-Vidal, P. (Pedro), Martin, N.G. (Nicholas), McKenzie, C.A. (Colin), McKnight, B. (Barbara), Mellström, D. (Dan), Menni, C. (Cristina), Montgomery, G.W. (Grant W.), Musk, A.W. (Arthur), Narisu, N. (Narisu), Nauck, M. (Matthias), Nolte, I.M. (Ilja), Oldehinkel, A.J. (Albertine), Olden, M. (Matthias), Ong, K.K. (Ken K.), Padmanabhan, S. (Sandosh), Peyser, P.A. (Patricia A.), Pisinger, C. (Charlotta), Porteous, D.J. (David J.), Raitakari, O.T. (Olli T.), Rankinen, T. (Tuomo), Rao, D.C. (D. C.), Rasmussen-Torvik, L.J. (Laura), Rawal, R. (Rajesh), Rice, T.K. (Treva K.), Ridker, P.M. (Paul), Rose, L.M. (Lynda M.), Bien, S.A. (Stephanie A.), Rudan, I. (Igor), Sanna, S. (Serena), Sarzynski, M.A. (Mark A.), Sattar, N. (Naveed), Savonen, K. (Kai), Schlessinger, D. (David), Scholtens, S. (Salome), Schurmann, C. (Claudia), Scott, R.A. (Robert), Sennblad, B. (Bengt), Siemelink, M.A. (Marten A.), Silbernagel, G. (Günther), Slagboom, P.E. (Eline), Snieder, H. (Harold), Staessen, J.A. (Jan A.), Stott, D.J. (David. J.), Swertz, M.A. (Morris A.), Swift, A.J. (Amy), Taylor, K.D. (Kent), Tayo, B. (Bamidele), Thorand, B. (Barbara), Thuillier, D. (Dorothee), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Vandenput, L. (Liesbeth), Vohl, M.-C. (Marie-Claude), Völzke, H. (Henry), Vonk, J.M. (Judith), Waeber, G. (Gérard), Waldenberger, M. (Melanie), Westendorp, R.G.J. (Rudi), Wild, S.H. (Sarah), Willemsen, G., Wolffenbuttel, B.H.R. (Bruce), Wong, A. (Andrew), Wright, A.F. (Alan), Zhao, W. (Wei), Zillikens, M.C. (Carola), Baldassarre, D. (Damiano), Balkau, B. (Beverley), Bandinelli, S. (Stefania), Böger, C.A. (Carsten), Boomsma, D.I. (Dorret), Bouchard, C. (Claude), Bruinenberg, M. (M.), Chasman, D.I. (Daniel), Ida Chen, Y.-D. (Yii-Der), Chines, P.S. (Peter), Cooper, R.S. (Richard S.), Cucca, F. (Francesco), Cusi, D. (Daniele), Faire, U. (Ulf) de, Ferrucci, L. (Luigi), Franks, P.W. (Paul), Froguel, P. (Philippe), Gordon-Larsen, P. (Penny), Grabe, H.J. (Hans Jörgen), Gudnason, V. (Vilmundur), Haiman, C.A. (Christopher), Hayward, C. (Caroline), Hveem, K. (Kristian), Johnson, A.D. (Andrew D.), Jukema, J.W. (Jan Wouter), Kardia, S.L.R. (Sharon), Kivimaki, M. (Mika), Kooner, J.S. (Jaspal S.), Kuh, D. (Diana), Laakso, M. (Markku), Lehtimäki, T. (Terho), Le Marchand, L. (Loic), März, W. (Winfried), McCarthy, M.I. (Mark), Metspalu, A. (Andres), Morris, A.P. (Andrew), Ohlsson, C. (Claes), Palmer, L.J. (Lyle J.), Pasterkamp, G. (Gerard), Pedersen, O. (Oluf), Peters, A. (Annette), Peters, U. (Ulrike), Polasek, O. (Ozren), Psaty, B.M. (Bruce M.), Qi, L. (Lu), Rauramaa, R. (Rainer), Smith, B.H. (Blair), Sørensen, T.I.A. (Thorkild), Strauch, K. (Konstantin), Tiemeier, H.W. (Henning), Tremoli, E. (Elena), Van Der Harst, P. (Pim), Vestergaard, H. (Henrik), Vollenweider, P. (Peter), Wareham, N.J. (Nick), Weir, D.R. (David), Whitfield, J. (John), Wilson, J.F. (James F.), Tyrrell, A.W.R., Frayling, T.M. (Timothy M.), Barroso, I.E. (Inês), Boehnke, M. (Michael), Deloukas, P. (Panagiotis), Fox, C.S. (Caroline), Hirschhorn, J.N. (Joel), Hunter, D.J. (David J.), Spector, T.D. (Timothy), Strachan, D.P. (David), Duijn, C.M. (Cornelia) van, Heid, I.M. (Iris), Mohlke, K.L. (Karen), Marchini, J. (Jonathan), Loos, R.J.F. (Ruth), Kilpeläinen, T.O. (Tuomas), Liu, C.-T. (Ching-Ti), Borecki, I.B. (Ingrid), North, K.E. (Kari), and Cupples, L.A. (Adrienne)

Abstract

Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87% European descent) to identify loci influencing BMI and central adiposity, measured as waist circumference and waist-to-hip ratio both adjusted for BMI. We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. We show consistent direction of effect for all identified loci and significance for 18 novel and for 5 interaction loci in an independent study sample. These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting

Published
2017
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30. Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults

Author

Graff, M.J. (Maud J.L.), Scott, R.A. (Robert), Justice, A.E. (Anne), Young, K.L. (Kristin L.), Feitosa, M.F. (Mary Furlan), Barata, L. (Llilda), Winkler, T.W. (Thomas W.), Chu, A.Y. (Audrey), Mahajan, A. (Anubha), Hadley, D. (David), Xue, L. (Luting), Workalemahu, T. (Tsegaselassie), Heard-Costa, N.L. (Nancy), Hoed, M. (Marcel) den, Ahluwalia, T.S. (Tarunveer Singh), Qi, Q., Ngwa, J.S., Renström, F. (Frida), Quaye, L. (Lydia), Eicher, J.D. (John D.), Hayes, J.E. (James E.), Cornelis, M. (Marilyn), Kutalik, Z. (Zoltán), Lim, E. (Elise), Luan, J. (Jian'An), Huffman, J.E. (Jennifer), Zhang, W. (Weihua), Zhao, W. (Wei), Griffin, P.J. (Paula J.), Haller, T. (Toomas), Ahmad, S. (Shafqat), Marques-Vidal, P. (Pedro), Bien, S. (Stephanie), Yengo, L. (Loic), Teumer, A. (Alexander), Smith, A.V. (Albert Vernon), Kumari, M. (Meena), Harder, M.N. (Marie Neergaard), Justesen, J.M. (Johanne M.), Kleber, M.E. (Marcus), Hollensted, M. (Mette), Lohman, K. (Kurt), Rivera, N.V. (Natalia), Whitfield, J.B. (John B.), Zhao, J.H. (Jing Hua), Stringham, H.M. (Heather), Lyytikäinen, L.-P. (Leo-Pekka), Huppertz, C. (Charlotte), Willemsen, G.A.H.M. (Gonneke), Peyrot, W.J. (Wouter ), Wu, Y. (Ying), Kristiansson, K. (Kati), Demirkan, A. (Ayşe), Fornage, M. (Myriam), Hassinen, M. (Maija), Bielak, L.F. (Lawrence F.), Cadby, G. (Gemma), Tanaka, T. (Toshiko), Mägi, R. (Reedik), Most, P.J. (Peter) van der, Jackson, A.U. (Anne), Bragg-Gresham, J.L. (Jennifer L.), Vitart, V. (Veronique), Marten, J. (Jonathan), Navarro, P. (Pau), Bellis, C. (Claire), Pasko, D. (Dorota), Johansson, Å. (Åsa), Snitker, S. (Soren), Cheng, Y.-C. (Yu-Ching), Eriksson, J. (Joel), Lim, U. (Unhee), Aadahl, M. (Mette), Adair, L.S. (Linda), Amin, N. (Najaf), Balkau, B. (Beverley), Auvinen, J. (Juha), Beilby, J.P. (John), Bergman, R.N. (Richard N.), Bergmann, S.M. (Sven), Bertoni, A.G. (Alain G.), Blangero, J. (John), Bonnefond, A. (Amélie), Bonnycastle, L.L. (Lori), Borja, J.B. (Judith), Brage, S. (Soren), Busonero, F., Buyske, S. (Steven), Campbell, H. (Harry), Chines, P.S. (Peter), Collins, F.S. (Francis), Corre, T. (Tanguy), Smith, G.D. (George Davey), Delgado, G., Dueker, N. (Nicole), Dörr, M. (Marcus), Ebeling, T. (Tapani), Eiriksdottir, G. (Gudny), Esko, T. (Tõnu), Faul, J.D. (Jessica D.), Fu, M. (Mao), Færch, K. (Kristine), Gieger, C. (Christian), Gläser, S., Gong, J. (Jian), Gordon-Larsen, P. (Penny), Grallert, H. (Harald), Grammer, T.B. (Tanja B), Grarup, N. (Niels), Grootheest, G. (Gerard) van, Harald, K. (Kennet), Hastie, N. (Nick), Havulinna, A.S. (Aki), Hernandez, D.G. (Dena), Hindorff, L.A. (Lucia A), Hocking, L.J. (Lynne), Holmens, O.L. (Oddgeir L.), Holzapfel, C. (Christina), Hottenga, J.J. (Jouke Jan), Huang, J. (Jian), Huang, T. (Tao), Hui, J. (Jennie), Huth, C. (Cornelia), Hutri-Kähönen, N. (Nina), James, A. (Alan), Jansson, J.-O. (John-Olov), Jhun, M.A. (Min A.), Juonala, M. (Markus), Kinnunen, L. (Leena), Koistinen, H. (Heikki), Kolcic, I. (Ivana), Komulainen, P. (Pirjo), Kuusisto, J. (Johanna), Kvaløy, K. (Kirsti), Kähönen, M. (Mika), Lakka, T.A. (Timo), Launer, L.J. (Lenore), Lehne, B. (Benjamin), Lindgren, C.M. (Cecilia M.), Lorentzon, M. (Mattias), Luben, R.N. (Robert), Marre, M. (Michel), Milaneschi, Y. (Yuri), Monda, K.L. (Keri), Montgomery, G.W. (Grant W.), Moor, M.H.M. de, Mulas, A. (Antonella), Müller-Nurasyid, M. (Martina), Musk, A.W., Männikkö, R. (Reija), Männistö, S. (Satu), Narisu, N. (Narisu), Nauck, M. (Matthias), Nettleton, J.A. (Jennifer ), Nolte, I.M. (Ilja M.), Oldehinkel, A.J. (Albertine), Olden, M. (Matthias), Ong, K.K. (Ken K.), Padmanabhan, S. (Sandosh), Paternoster, L. (Lavinia), Perez, J. (Jeremiah), Perola, M. (Markus), Peters, A. (Annette), Peters, U. (Ulrike), Peyser, P.A. (Patricia A.), Prokopenko, I. (Inga), Puolijoki, H. (Hannu), Raitakari, O.T. (Olli T.), Rankinen, T. (Tuomo), Rasmussen-Torvik, L.J. (Laura J.), Rawal, R. (Rajesh), Ridker, P.M. (Paul), Rose, L.M. (Lynda), Rudan, I. (Igor), Sarti, C. (Cinzia), Sarzynski, M.A. (Mark A.), Savonen, K. (Kai), Scott, W.R. (William R.), Sanna, S. (Serena), Shuldiner, A.R. (Alan), Sidney, S. (Steve), Silbernagel, G. (Günther), Smith, B.H., Smith, J.A. (Jennifer A), Snieder, H. (Harold), Stancáková, A. (Alena), Sternfeld, B. (Barbara), Swift, A.J. (Amy), Tammelin, T. (Tuija), Tan, S.-T. (Sian-Tsung), Thorand, B. (Barbara), Thuillier, D. (Dorothee), Vandenput, L. (Liesbeth), Vestergaard, H. (Henrik), Vliet-Ostaptchouk, J.V. (Jana) van, Vohl, M.-C. (Marie-Claude), Völker, U. (Uwe), Waeber, G. (Gérard), Walker, M. (Mark), Wild, S. (Sarah), Wong, A. (Andrew), Wright, A.F. (Alan), Zillikens, M.C. (Carola), Zubair, N. (Niha), Haiman, C.A. (Christopher), LeMarchand, L. (Loic), Gyllensten, U. (Ulf), Ohlsson, C. (Claes), Hofman, A. (Albert), Rivadeneira Ramirez, F. (Fernando), Uitterlinden, A.G. (André), Perusse, L. (Louis), Wilson, J.F. (James), Hayward, C. (Caroline), Polasek, O. (Ozren), Cucca, F. (Francesco), Hveem, K. (Kristian), Hartman, C.A. (Catharina A.), Tönjes, A. (Anke), Bandinelli, S. (Stefania), Palmer, L.J. (Lyle J.), Kardia, S.L.R. (Sharon L. R.), Rauramaa, R. (Rainer), Sørensen, T.I.A. (Thorkild), Tuomilehto, J. (Jaakko), Salomaa, V. (Veikko), Penninx, B.W.J.H. (Brenda), Geus, E.J.C. (Eco) de, Boomsma, D.I. (Dorret), Lehtimäki, T. (Terho), Mangino, M. (Massimo), Laakso, M. (Markku), Bouchard, C. (Claude), Martin, N.G. (Nicholas), Kuh, D. (Diana), Liu, Y. (YongMei), Linneberg, A. (Allan), März, W. (Winfried), Strauch, K. (Konstantin), Kivimaki, M. (Mika), Harris, T.B. (Tamara), Gudnason, V. (Vilmundur), Völzke, H. (Henry), Qi, L. (Lu), Jarvelin, M.-R. (Marjo-Riitta), Chambers, J.C. (John), Kooner, J.S. (Jaspal S.), Froguel, P. (Philippe), Kooperberg, C. (Charles), Vollenweider, P. (Peter), Hallmans, G. (Göran), Hansen, T. (T.), Pedersen, O. (Oluf), Metspalu, A. (Andres), Wareham, N.J. (Nick), Langenberg, C. (Claudia), Weir, D.R. (David), Porteous, D.J. (David J.), Boerwinkle, E.A. (Eric), Chasman, D.I. (Daniel), Abecasis, G.R. (Gonçalo R.), Barroso, I.E. (Inês), McCarthy, M.I. (Mark I.), Frayling, T.M. (Timothy), O’Connell, J.R. (Jeffrey R.), Duijn, C.M. (Cornelia) van, Boehnke, M. (Michael), Heid, I.M. (Iris), Mohlke, K.L. (Karen), Strachan, D.P. (David), Fox, C.S. (Caroline), Liu, C.-T. (Ching-Ti), Hirschhorn, J.N. (Joel), Klein, R.J. (Robert J.), Johnson, A.D. (Andrew), Borecki, I.B. (Ingrid), Franks, P.W. (Paul), North, K.E. (Kari), Cupples, L.A. (Adrienne), Loos, R.J.F. (Ruth), Kilpeläinen, T.O. (Tuomas), Graff, M.J. (Maud J.L.), Scott, R.A. (Robert), Justice, A.E. (Anne), Young, K.L. (Kristin L.), Feitosa, M.F. (Mary Furlan), Barata, L. (Llilda), Winkler, T.W. (Thomas W.), Chu, A.Y. (Audrey), Mahajan, A. (Anubha), Hadley, D. (David), Xue, L. (Luting), Workalemahu, T. (Tsegaselassie), Heard-Costa, N.L. (Nancy), Hoed, M. (Marcel) den, Ahluwalia, T.S. (Tarunveer Singh), Qi, Q., Ngwa, J.S., Renström, F. (Frida), Quaye, L. (Lydia), Eicher, J.D. (John D.), Hayes, J.E. (James E.), Cornelis, M. (Marilyn), Kutalik, Z. (Zoltán), Lim, E. (Elise), Luan, J. (Jian'An), Huffman, J.E. (Jennifer), Zhang, W. (Weihua), Zhao, W. (Wei), Griffin, P.J. (Paula J.), Haller, T. (Toomas), Ahmad, S. (Shafqat), Marques-Vidal, P. (Pedro), Bien, S. (Stephanie), Yengo, L. (Loic), Teumer, A. (Alexander), Smith, A.V. (Albert Vernon), Kumari, M. (Meena), Harder, M.N. (Marie Neergaard), Justesen, J.M. (Johanne M.), Kleber, M.E. (Marcus), Hollensted, M. (Mette), Lohman, K. (Kurt), Rivera, N.V. (Natalia), Whitfield, J.B. (John B.), Zhao, J.H. (Jing Hua), Stringham, H.M. (Heather), Lyytikäinen, L.-P. (Leo-Pekka), Huppertz, C. (Charlotte), Willemsen, G.A.H.M. (Gonneke), Peyrot, W.J. (Wouter ), Wu, Y. (Ying), Kristiansson, K. (Kati), Demirkan, A. (Ayşe), Fornage, M. (Myriam), Hassinen, M. (Maija), Bielak, L.F. (Lawrence F.), Cadby, G. (Gemma), Tanaka, T. (Toshiko), Mägi, R. (Reedik), Most, P.J. (Peter) van der, Jackson, A.U. (Anne), Bragg-Gresham, J.L. (Jennifer L.), Vitart, V. (Veronique), Marten, J. (Jonathan), Navarro, P. (Pau), Bellis, C. (Claire), Pasko, D. (Dorota), Johansson, Å. (Åsa), Snitker, S. (Soren), Cheng, Y.-C. (Yu-Ching), Eriksson, J. (Joel), Lim, U. (Unhee), Aadahl, M. (Mette), Adair, L.S. (Linda), Amin, N. (Najaf), Balkau, B. (Beverley), Auvinen, J. (Juha), Beilby, J.P. (John), Bergman, R.N. (Richard N.), Bergmann, S.M. (Sven), Bertoni, A.G. (Alain G.), Blangero, J. (John), Bonnefond, A. (Amélie), Bonnycastle, L.L. (Lori), Borja, J.B. (Judith), Brage, S. (Soren), Busonero, F., Buyske, S. (Steven), Campbell, H. (Harry), Chines, P.S. (Peter), Collins, F.S. (Francis), Corre, T. (Tanguy), Smith, G.D. (George Davey), Delgado, G., Dueker, N. (Nicole), Dörr, M. (Marcus), Ebeling, T. (Tapani), Eiriksdottir, G. (Gudny), Esko, T. (Tõnu), Faul, J.D. (Jessica D.), Fu, M. (Mao), Færch, K. (Kristine), Gieger, C. (Christian), Gläser, S., Gong, J. (Jian), Gordon-Larsen, P. (Penny), Grallert, H. (Harald), Grammer, T.B. (Tanja B), Grarup, N. (Niels), Grootheest, G. (Gerard) van, Harald, K. (Kennet), Hastie, N. (Nick), Havulinna, A.S. (Aki), Hernandez, D.G. (Dena), Hindorff, L.A. (Lucia A), Hocking, L.J. (Lynne), Holmens, O.L. (Oddgeir L.), Holzapfel, C. (Christina), Hottenga, J.J. (Jouke Jan), Huang, J. (Jian), Huang, T. (Tao), Hui, J. (Jennie), Huth, C. (Cornelia), Hutri-Kähönen, N. (Nina), James, A. (Alan), Jansson, J.-O. (John-Olov), Jhun, M.A. (Min A.), Juonala, M. (Markus), Kinnunen, L. (Leena), Koistinen, H. (Heikki), Kolcic, I. (Ivana), Komulainen, P. (Pirjo), Kuusisto, J. (Johanna), Kvaløy, K. (Kirsti), Kähönen, M. (Mika), Lakka, T.A. (Timo), Launer, L.J. (Lenore), Lehne, B. (Benjamin), Lindgren, C.M. (Cecilia M.), Lorentzon, M. (Mattias), Luben, R.N. (Robert), Marre, M. (Michel), Milaneschi, Y. (Yuri), Monda, K.L. (Keri), Montgomery, G.W. (Grant W.), Moor, M.H.M. de, Mulas, A. (Antonella), Müller-Nurasyid, M. (Martina), Musk, A.W., Männikkö, R. (Reija), Männistö, S. (Satu), Narisu, N. (Narisu), Nauck, M. (Matthias), Nettleton, J.A. (Jennifer ), Nolte, I.M. (Ilja M.), Oldehinkel, A.J. (Albertine), Olden, M. (Matthias), Ong, K.K. (Ken K.), Padmanabhan, S. (Sandosh), Paternoster, L. (Lavinia), Perez, J. (Jeremiah), Perola, M. (Markus), Peters, A. (Annette), Peters, U. (Ulrike), Peyser, P.A. (Patricia A.), Prokopenko, I. (Inga), Puolijoki, H. (Hannu), Raitakari, O.T. (Olli T.), Rankinen, T. (Tuomo), Rasmussen-Torvik, L.J. (Laura J.), Rawal, R. (Rajesh), Ridker, P.M. (Paul), Rose, L.M. (Lynda), Rudan, I. (Igor), Sarti, C. (Cinzia), Sarzynski, M.A. (Mark A.), Savonen, K. (Kai), Scott, W.R. (William R.), Sanna, S. (Serena), Shuldiner, A.R. (Alan), Sidney, S. (Steve), Silbernagel, G. (Günther), Smith, B.H., Smith, J.A. (Jennifer A), Snieder, H. (Harold), Stancáková, A. (Alena), Sternfeld, B. (Barbara), Swift, A.J. (Amy), Tammelin, T. (Tuija), Tan, S.-T. (Sian-Tsung), Thorand, B. (Barbara), Thuillier, D. (Dorothee), Vandenput, L. (Liesbeth), Vestergaard, H. (Henrik), Vliet-Ostaptchouk, J.V. (Jana) van, Vohl, M.-C. (Marie-Claude), Völker, U. (Uwe), Waeber, G. (Gérard), Walker, M. (Mark), Wild, S. (Sarah), Wong, A. (Andrew), Wright, A.F. (Alan), Zillikens, M.C. (Carola), Zubair, N. (Niha), Haiman, C.A. (Christopher), LeMarchand, L. (Loic), Gyllensten, U. (Ulf), Ohlsson, C. (Claes), Hofman, A. (Albert), Rivadeneira Ramirez, F. (Fernando), Uitterlinden, A.G. (André), Perusse, L. (Louis), Wilson, J.F. (James), Hayward, C. (Caroline), Polasek, O. (Ozren), Cucca, F. (Francesco), Hveem, K. (Kristian), Hartman, C.A. (Catharina A.), Tönjes, A. (Anke), Bandinelli, S. (Stefania), Palmer, L.J. (Lyle J.), Kardia, S.L.R. (Sharon L. R.), Rauramaa, R. (Rainer), Sørensen, T.I.A. (Thorkild), Tuomilehto, J. (Jaakko), Salomaa, V. (Veikko), Penninx, B.W.J.H. (Brenda), Geus, E.J.C. (Eco) de, Boomsma, D.I. (Dorret), Lehtimäki, T. (Terho), Mangino, M. (Massimo), Laakso, M. (Markku), Bouchard, C. (Claude), Martin, N.G. (Nicholas), Kuh, D. (Diana), Liu, Y. (YongMei), Linneberg, A. (Allan), März, W. (Winfried), Strauch, K. (Konstantin), Kivimaki, M. (Mika), Harris, T.B. (Tamara), Gudnason, V. (Vilmundur), Völzke, H. (Henry), Qi, L. (Lu), Jarvelin, M.-R. (Marjo-Riitta), Chambers, J.C. (John), Kooner, J.S. (Jaspal S.), Froguel, P. (Philippe), Kooperberg, C. (Charles), Vollenweider, P. (Peter), Hallmans, G. (Göran), Hansen, T. (T.), Pedersen, O. (Oluf), Metspalu, A. (Andres), Wareham, N.J. (Nick), Langenberg, C. (Claudia), Weir, D.R. (David), Porteous, D.J. (David J.), Boerwinkle, E.A. (Eric), Chasman, D.I. (Daniel), Abecasis, G.R. (Gonçalo R.), Barroso, I.E. (Inês), McCarthy, M.I. (Mark I.), Frayling, T.M. (Timothy), O’Connell, J.R. (Jeffrey R.), Duijn, C.M. (Cornelia) van, Boehnke, M. (Michael), Heid, I.M. (Iris), Mohlke, K.L. (Karen), Strachan, D.P. (David), Fox, C.S. (Caroline), Liu, C.-T. (Ching-Ti), Hirschhorn, J.N. (Joel), Klein, R.J. (Robert J.), Johnson, A.D. (Andrew), Borecki, I.B. (Ingrid), Franks, P.W. (Paul), North, K.E. (Kari), Cupples, L.A. (Adrienne), Loos, R.J.F. (Ruth), and Kilpeläinen, T.O. (Tuomas)

Abstract

Physical activity (PA) may modify the genetic effects that give rise to increased risk of obesity. To identify adiposity loci whose effects are modified by PA, we performed genome-wide interaction meta-analyses of BMI and BMI-adjusted waist circumference and waist-hip ratio from up to 200,452 adults of European (n = 180,423) or other ancestry (n = 20,029). We standardized PA by categorizing it into a dichotomous variable where, on average, 23% of participants were categorized as inactive and 77% as physically active. While we replicate the interaction with PA for the strongest known obesity-risk locus in the FTO gene, of which the effect is attenuated by ~30% in physically active individuals compared to inactive individuals, we do not identify additional loci that are sensitive to PA. In additional genome-wide meta-analyses adjusting for PA and interaction with PA, we identify 11 novel adiposity loci, suggesting that accounting for PA or other environmental factors that contribute to variation in adiposity may facilitate gene discovery.

Published
2017
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31. Calculating the effect of external shading on the solar heat gain coefficient of windows

Author

Kohler, C, Kohler, C, Shukla, Y, Rawal, R, Kohler, C, Kohler, C, Shukla, Y, and Rawal, R

Abstract

Current prescriptive building codes have limited ways to account for the effect of solar shading, such as overhangs and awnings, on window solar heat gains. We propose two new indicators, the adjusted Solar Heat Gain Coefficient (aSHGC) which accounts for external shading while calculating the SHGC of a window, and a weighted SHGC (SHGCw) which provides a seasonal SHGC weighted by solar intensity. We demonstrate a method to calculate these indices using existing tools combined with additional calculations. The method is demonstrated by calculating the effect of an awning on a clear double glazing in New Delhi.

Published
2017

32. Genome-wide physical activity interactions in adiposity:a meta-analysis of 200,452 adults

Author

Graff, M. (Mariaelisa), Scott, R. A. (Robert A.), Justice, A. E. (Anne E.), Young, K. L. (Kristin L.), Feitosa, M. F. (Mary F.), Barata, L. (Llilda), Winkler, T. W. (Thomas W.), Chu, A. Y. (Audrey Y.), Mahajan, A. (Anubha), Hadley, D. (David), Xue, L. (Luting), Workalemahu, T. (Tsegaselassie), Heard-Costa, N. L. (Nancy L.), den Hoed, M. (Marcel), Ahluwalia, T. S. (Tarunveer S.), Qi, Q. (Qibin), Ngwa, J. S. (Julius S.), Renstrom, F. (Frida), Quaye, L. (Lydia), Eicher, J. D. (John D.), Hayes, J. E. (James E.), Cornelis, M. (Marilyn), Kutalik, Z. (Zoltan), Lim, E. (Elise), Luan, J. (Jian'an), Huffman, J. E. (Jennifer E.), Zhang, W. (Weihua), Zhao, W. (Wei), Griffin, P. J. (Paula J.), Haller, T. (Toomas), Ahmad, S. (Shafqat), Marques-Vidal, P. M. (Pedro M.), Bien, S. (Stephanie), Yengo, L. (Loic), Teumer, A. (Alexander), Smith, A. V. (Albert Vernon), Kumari, M. (Meena), Harder, M. N. (Marie Neergaard), Justesen, J. M. (Johanne Marie), Kleber, M. E. (Marcus E.), Hollensted, M. (Mette), Lohman, K. (Kurt), Rivera, N. V. (Natalia V.), Whitfield, J. B. (John B.), Zhao, J. H. (Jing Hua), Stringham, H. M. (Heather M.), Lyytikainen, L.-P. (Leo-Pekka), Huppertz, C. (Charlotte), Willemsen, G. (Gonneke), Peyrot, W. J. (Wouter J.), Wu, Y. (Ying), Kristiansson, K. (Kati), Demirkan, A. (Ayse), Fornage, M. (Myriam), Hassinen, M. (Maija), Bielak, L. F. (Lawrence F.), Cadby, G. (Gemma), Tanaka, T. (Toshiko), Magl, R. (Reedlk), Van der Most, P. J. (Peter J.), Jackson, A. U. (Anne U.), Bragg-Gresham, J. L. (Jennifer L.), Vitart, V. (Veronique), Marten, J. (Jonathan), Navarro, P. (Pau), Bellis, C. (Claire), Pasko, D. (Dorota), Johansson, A. (Asa), Snitker, S. (Soren), Cheng, Y.-C. (Yu-Ching), Eriksson, J. (Joel), Lim, U. (Unhee), Aadahl, M. (Mette), Adair, L. S. (Linda S.), Amin, N. (Najaf), Balkau, B. (Beverley), Auvinen, J. (Juha), Beilby, J. (John), Bergman, R. N. (Richard N.), Bergmann, S. (Sven), Bertoni, A. G. (Alain G.), Blangero, J. (John), Bonnefond, A. (Amelle), Bonnycastle, L. L. (Lori L.), Borja, J. B. (Judith B.), Brage, S. (Soren), Busonero, F. (Fabio), Buyske, S. (Steve), Campbell, H. (Harry), Chines, P. S. (Peter S.), Collins, F. S. (Francis S.), Corre, T. (Tanguy), Smith, G. D. (George Davey), Delgado, G. E. (Graciela E.), Dueker, N. (Nicole), Doerr, M. (Marcus), Ebeling, T. (Tapani), Eiriksdottir, G. (Gudny), Esko, T. (Tonu), Faul, J. D. (Jessica D.), Fu, M. (Mao), Faerch, K. (Kristine), Gieger, C. (Christian), Glaeser, S. (Sven), Gong, J. (Jian), Gordon-Larsen, P. (Penny), Grallert, H. (Harald), Grammer, T. B. (Tanja B.), Grarup, N. (Niels), van Grootheest, G. (Gerard), Harald, K. (Kennet), Hastie, N. D. (Nicholas D.), Havulinna, A. S. (Aki S.), Hernandez, D. (Dena), Hindorff, L. (Lucia), Hocking, L. J. (Lynne J.), Holmens, O. L. (Oddgeir L.), Holzapfel, C. (Christina), Hottenga, J. J. (Jouke Jan), Huang, J. (Jie), Huang, T. (Tao), Hui, J. (Jennie), Huth, C. (Cornelia), Hutri-Kahonen, N. (Nina), James, A. L. (Alan L.), Jansson, J.-O. (John-Olov), Jhun, M. A. (Min A.), Juonala, M. (Markus), Kinnunen, L. (Leena), Koistinen, H. A. (Heikki A.), Kolcic, I. (Ivana), Komulainen, P. (Pirjo), Kuusisto, J. (Johanna), Kvaloy, K. (Kirsti), Kahonen, M. (Mika), Lakka, T. A. (Timo A.), Launer, L. J. (Lenore J.), Lehne, B. (Benjamin), Lindgren, C. M. (Cecilia M.), Lorentzon, M. (Mattias), Luben, R. (Robert), Marre, M. (Michel), Milaneschi, Y. (Yuri), Monda, K. L. (Keri L.), Montgomery, G. W. (Grant W.), De Moor, M. H. (Marleen H. M.), Mulas, A. (Antonella), Mueller-Nurasyid, M. (Martina), Musk, A. W. (A. W.), Mannikko, R. (Reija), Mannisto, S. (Satu), Narisu, N. (Narisu), Nauck, M. (Matthias), Nettleton, J. A. (Jennifer A.), Nolte, I. M. (Ilja M.), Oldehinkel, A. J. (Albertine J.), Olden, M. (Matthias), Ong, K. K. (Ken K.), Padmanabhan, S. (Sandosh), Paternoster, L. (Lavinia), Perez, J. (Jeremiah), Perola, M. (Markus), Peters, A. (Annette), Peters, U. (Ulrike), Peyser, P. A. (Patricia A.), Prokopenko, I. (Inga), Puolijoki, H. (Hannu), Raitakari, O. T. (Olli T.), Rankinen, T. (Tuomo), Rasmussen-Torvik, L. J. (Laura J.), Rawal, R. (Rajesh), Ridker, P. M. (Paul M.), Rose, L. M. (Lynda M.), Rudan, I. (Igor), Sarti, C. (Cinzia), Sarzynski, M. A. (Mark A.), Savonen, K. (Kai), Scott, W. R. (William R.), Sanna, S. (Serena), Shuldiner, A. R. (Alan R.), Sidney, S. (Steve), Silbernagel, G. (Guenther), Smith, B. H. (Blair H.), Smith, J. A. (Jennifer A.), Snieder, H. (Harold), Stancakova, A. (Alena), Sternfeld, B. (Barbara), Swift, A. J. (Amy J.), Tammelin, T. (Tuija), Tan, S.-T. (Sian-Tsung), Thorand, B. (Barbara), Thuillier, D. (Dorothee), Vandenput, L. (Liesbeth), Vestergaard, H. (Henrik), van Vliet-Ostaptchouk, J. V. (Jana V.), Vohl, M.-C. (Marie-Claude), Voelker, U. (Uwe), Waeber, G. (Gerard), Walker, M. (Mark), Wild, S. (Sarah), Wong, A. (Andrew), Wright, A. F. (Alan F.), Zillikens, M. C. (M. Carola), Zubair, N. (Niha), Haiman, C. A. (Christopher A.), Lemarchand, L. (Loic), Gyllensten, U. (Ulf), Ohlsson, C. (Claes), Hofman, A. (Albert), Rivadeneira, F. (Fernando), Uitterlinden, A. G. (Andre G.), Perusse, L. (Louis), Wilson, J. F. (James F.), Hayward, C. (Caroline), Polasek, O. (Ozren), Cucca, F. (Francesco), Hveem, K. (Kristian), Hartman, C. A. (Catharina A.), Toenjes, A. (Anke), Bandinelli, S. (Stefania), Palmer, L. J. (Lyle J.), Kardia, S. L. (Sharon L. R.), Rauramaa, R. (Rainer), Sorensen, T. I. (Thorkild I. A.), Tuomilehto, J. (Jaakko), Salomaa, V. (Veikko), Penninx, B. W. (Brenda W. J. H.), de Geus, E. J. (Eco J. C.), Boomsma, D. I. (Dorret I.), Lehtimaki, T. (Terho), Mangino, M. (Massimo), Laakso, M. (Markku), Bouchard, C. (Claude), Martin, N. G. (Nicholas G.), Kuh, D. (Diana), Liu, Y. (Yongmei), Linneberg, A. (Allan), Maerz, W. (Winfried), Strauch, K. (Konstantin), Kivimaki, M. (Mika), Harris, T. B. (Tamara B.), Gudnason, V. (Vilmundur), Voelzke, H. (Henry), Qi, L. (Lu), Jarvelin, M.-R. (Marjo-Riitta), Chambers, J. C. (John C.), Kooner, J. S. (Jaspal S.), Froguel, P. (Philippe), Kooperberg, C. (Charles), Vollenweider, P. (Peter), Hallmans, G. (Goran), Hansen, T. (Torben), Pedersen, O. (Oluf), Metspalu, A. (Andres), Wareham, N. J. (Nicholas J.), Langenberg, C. (Claudia), Weir, D. R. (David R.), Porteous, D. J. (David J.), Boerwinkle, E. (Eric), Chasman, D. I. (Daniel I.), Abecasis, G. R. (Goncalo R.), Barroso, I. (Ines), McCarthy, M. I. (Mark I.), Frayling, T. M. (Timothy M.), O'Connell, J. R. (Jeffrey R.), van Duijn, C. M. (Cornelia M.), Boehnke, M. (Michael), Heid, I. M. (Iris M.), Mohlke, K. L. (Karen L.), Strachan, D. P. (David P.), Fox, C. S. (Caroline S.), Liu, C.-T. (Ching-Ti), Hirschhorn, J. N. (Joel N.), Klein, R. J. (Robert J.), Johnson, A. D. (Andrew D.), Borecki, I. B. (Ingrid B.), Franks, P. W. (Paul W.), North, K. E. (Kari E.), Cupples, L. A. (L. Adrienne), Loos, R. J. (Ruth J. F.), Kilpelainen, T. O. (Tuomas O.), Graff, M. (Mariaelisa), Scott, R. A. (Robert A.), Justice, A. E. (Anne E.), Young, K. L. (Kristin L.), Feitosa, M. F. (Mary F.), Barata, L. (Llilda), Winkler, T. W. (Thomas W.), Chu, A. Y. (Audrey Y.), Mahajan, A. (Anubha), Hadley, D. (David), Xue, L. (Luting), Workalemahu, T. (Tsegaselassie), Heard-Costa, N. L. (Nancy L.), den Hoed, M. (Marcel), Ahluwalia, T. S. (Tarunveer S.), Qi, Q. (Qibin), Ngwa, J. S. (Julius S.), Renstrom, F. (Frida), Quaye, L. (Lydia), Eicher, J. D. (John D.), Hayes, J. E. (James E.), Cornelis, M. (Marilyn), Kutalik, Z. (Zoltan), Lim, E. (Elise), Luan, J. (Jian'an), Huffman, J. E. (Jennifer E.), Zhang, W. (Weihua), Zhao, W. (Wei), Griffin, P. J. (Paula J.), Haller, T. (Toomas), Ahmad, S. (Shafqat), Marques-Vidal, P. M. (Pedro M.), Bien, S. (Stephanie), Yengo, L. (Loic), Teumer, A. (Alexander), Smith, A. V. (Albert Vernon), Kumari, M. (Meena), Harder, M. N. (Marie Neergaard), Justesen, J. M. (Johanne Marie), Kleber, M. E. (Marcus E.), Hollensted, M. (Mette), Lohman, K. (Kurt), Rivera, N. V. (Natalia V.), Whitfield, J. B. (John B.), Zhao, J. H. (Jing Hua), Stringham, H. M. (Heather M.), Lyytikainen, L.-P. (Leo-Pekka), Huppertz, C. (Charlotte), Willemsen, G. (Gonneke), Peyrot, W. J. (Wouter J.), Wu, Y. (Ying), Kristiansson, K. (Kati), Demirkan, A. (Ayse), Fornage, M. (Myriam), Hassinen, M. (Maija), Bielak, L. F. (Lawrence F.), Cadby, G. (Gemma), Tanaka, T. (Toshiko), Magl, R. (Reedlk), Van der Most, P. J. (Peter J.), Jackson, A. U. (Anne U.), Bragg-Gresham, J. L. (Jennifer L.), Vitart, V. (Veronique), Marten, J. (Jonathan), Navarro, P. (Pau), Bellis, C. (Claire), Pasko, D. (Dorota), Johansson, A. (Asa), Snitker, S. (Soren), Cheng, Y.-C. (Yu-Ching), Eriksson, J. (Joel), Lim, U. (Unhee), Aadahl, M. (Mette), Adair, L. S. (Linda S.), Amin, N. (Najaf), Balkau, B. (Beverley), Auvinen, J. (Juha), Beilby, J. (John), Bergman, R. N. (Richard N.), Bergmann, S. (Sven), Bertoni, A. G. (Alain G.), Blangero, J. (John), Bonnefond, A. (Amelle), Bonnycastle, L. L. (Lori L.), Borja, J. B. (Judith B.), Brage, S. (Soren), Busonero, F. (Fabio), Buyske, S. (Steve), Campbell, H. (Harry), Chines, P. S. (Peter S.), Collins, F. S. (Francis S.), Corre, T. (Tanguy), Smith, G. D. (George Davey), Delgado, G. E. (Graciela E.), Dueker, N. (Nicole), Doerr, M. (Marcus), Ebeling, T. (Tapani), Eiriksdottir, G. (Gudny), Esko, T. (Tonu), Faul, J. D. (Jessica D.), Fu, M. (Mao), Faerch, K. (Kristine), Gieger, C. (Christian), Glaeser, S. (Sven), Gong, J. (Jian), Gordon-Larsen, P. (Penny), Grallert, H. (Harald), Grammer, T. B. (Tanja B.), Grarup, N. (Niels), van Grootheest, G. (Gerard), Harald, K. (Kennet), Hastie, N. D. (Nicholas D.), Havulinna, A. S. (Aki S.), Hernandez, D. (Dena), Hindorff, L. (Lucia), Hocking, L. J. (Lynne J.), Holmens, O. L. (Oddgeir L.), Holzapfel, C. (Christina), Hottenga, J. J. (Jouke Jan), Huang, J. (Jie), Huang, T. (Tao), Hui, J. (Jennie), Huth, C. (Cornelia), Hutri-Kahonen, N. (Nina), James, A. L. (Alan L.), Jansson, J.-O. (John-Olov), Jhun, M. A. (Min A.), Juonala, M. (Markus), Kinnunen, L. (Leena), Koistinen, H. A. (Heikki A.), Kolcic, I. (Ivana), Komulainen, P. (Pirjo), Kuusisto, J. (Johanna), Kvaloy, K. (Kirsti), Kahonen, M. (Mika), Lakka, T. A. (Timo A.), Launer, L. J. (Lenore J.), Lehne, B. (Benjamin), Lindgren, C. M. (Cecilia M.), Lorentzon, M. (Mattias), Luben, R. (Robert), Marre, M. (Michel), Milaneschi, Y. (Yuri), Monda, K. L. (Keri L.), Montgomery, G. W. (Grant W.), De Moor, M. H. (Marleen H. M.), Mulas, A. (Antonella), Mueller-Nurasyid, M. (Martina), Musk, A. W. (A. W.), Mannikko, R. (Reija), Mannisto, S. (Satu), Narisu, N. (Narisu), Nauck, M. (Matthias), Nettleton, J. A. (Jennifer A.), Nolte, I. M. (Ilja M.), Oldehinkel, A. J. (Albertine J.), Olden, M. (Matthias), Ong, K. K. (Ken K.), Padmanabhan, S. (Sandosh), Paternoster, L. (Lavinia), Perez, J. (Jeremiah), Perola, M. (Markus), Peters, A. (Annette), Peters, U. (Ulrike), Peyser, P. A. (Patricia A.), Prokopenko, I. (Inga), Puolijoki, H. (Hannu), Raitakari, O. T. (Olli T.), Rankinen, T. (Tuomo), Rasmussen-Torvik, L. J. (Laura J.), Rawal, R. (Rajesh), Ridker, P. M. (Paul M.), Rose, L. M. (Lynda M.), Rudan, I. (Igor), Sarti, C. (Cinzia), Sarzynski, M. A. (Mark A.), Savonen, K. (Kai), Scott, W. R. (William R.), Sanna, S. (Serena), Shuldiner, A. R. (Alan R.), Sidney, S. (Steve), Silbernagel, G. (Guenther), Smith, B. H. (Blair H.), Smith, J. A. (Jennifer A.), Snieder, H. (Harold), Stancakova, A. (Alena), Sternfeld, B. (Barbara), Swift, A. J. (Amy J.), Tammelin, T. (Tuija), Tan, S.-T. (Sian-Tsung), Thorand, B. (Barbara), Thuillier, D. (Dorothee), Vandenput, L. (Liesbeth), Vestergaard, H. (Henrik), van Vliet-Ostaptchouk, J. V. (Jana V.), Vohl, M.-C. (Marie-Claude), Voelker, U. (Uwe), Waeber, G. (Gerard), Walker, M. (Mark), Wild, S. (Sarah), Wong, A. (Andrew), Wright, A. F. (Alan F.), Zillikens, M. C. (M. Carola), Zubair, N. (Niha), Haiman, C. A. (Christopher A.), Lemarchand, L. (Loic), Gyllensten, U. (Ulf), Ohlsson, C. (Claes), Hofman, A. (Albert), Rivadeneira, F. (Fernando), Uitterlinden, A. G. (Andre G.), Perusse, L. (Louis), Wilson, J. F. (James F.), Hayward, C. (Caroline), Polasek, O. (Ozren), Cucca, F. (Francesco), Hveem, K. (Kristian), Hartman, C. A. (Catharina A.), Toenjes, A. (Anke), Bandinelli, S. (Stefania), Palmer, L. J. (Lyle J.), Kardia, S. L. (Sharon L. R.), Rauramaa, R. (Rainer), Sorensen, T. I. (Thorkild I. A.), Tuomilehto, J. (Jaakko), Salomaa, V. (Veikko), Penninx, B. W. (Brenda W. J. H.), de Geus, E. J. (Eco J. C.), Boomsma, D. I. (Dorret I.), Lehtimaki, T. (Terho), Mangino, M. (Massimo), Laakso, M. (Markku), Bouchard, C. (Claude), Martin, N. G. (Nicholas G.), Kuh, D. (Diana), Liu, Y. (Yongmei), Linneberg, A. (Allan), Maerz, W. (Winfried), Strauch, K. (Konstantin), Kivimaki, M. (Mika), Harris, T. B. (Tamara B.), Gudnason, V. (Vilmundur), Voelzke, H. (Henry), Qi, L. (Lu), Jarvelin, M.-R. (Marjo-Riitta), Chambers, J. C. (John C.), Kooner, J. S. (Jaspal S.), Froguel, P. (Philippe), Kooperberg, C. (Charles), Vollenweider, P. (Peter), Hallmans, G. (Goran), Hansen, T. (Torben), Pedersen, O. (Oluf), Metspalu, A. (Andres), Wareham, N. J. (Nicholas J.), Langenberg, C. (Claudia), Weir, D. R. (David R.), Porteous, D. J. (David J.), Boerwinkle, E. (Eric), Chasman, D. I. (Daniel I.), Abecasis, G. R. (Goncalo R.), Barroso, I. (Ines), McCarthy, M. I. (Mark I.), Frayling, T. M. (Timothy M.), O'Connell, J. R. (Jeffrey R.), van Duijn, C. M. (Cornelia M.), Boehnke, M. (Michael), Heid, I. M. (Iris M.), Mohlke, K. L. (Karen L.), Strachan, D. P. (David P.), Fox, C. S. (Caroline S.), Liu, C.-T. (Ching-Ti), Hirschhorn, J. N. (Joel N.), Klein, R. J. (Robert J.), Johnson, A. D. (Andrew D.), Borecki, I. B. (Ingrid B.), Franks, P. W. (Paul W.), North, K. E. (Kari E.), Cupples, L. A. (L. Adrienne), Loos, R. J. (Ruth J. F.), and Kilpelainen, T. O. (Tuomas O.)

Abstract

Physical activity (PA) may modify the genetic effects that give rise to increased risk of obesity. To identify adiposity loci whose effects are modified by PA, we performed genome-wide interaction meta-analyses of BMI and BMI-adjusted waist circumference and waist-hip ratio from up to 200,452 adults of European (n = 180,423) or other ancestry (n = 20,029). We standardized PA by categorizing it into a dichotomous variable where, on average, 23% of participants were categorized as inactive and 77% as physically active. While we replicate the interaction with PA for the strongest known obesity-risk locus in the FTO gene, of which the effect is attenuated by ~30% in physically active individuals compared to inactive individuals, we do not identify additional loci that are sensitive to PA. In additional genome-wide meta-analyses adjusting for PA and interaction with PA, we identify 11 novel adiposity loci, suggesting that accounting for PA or other environmental factors that contribute to variation in adiposity may facilitate gene discovery.

Published
2017

33. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits

Author

Justice, A. E. (Anne E.), Winkler, T. W. (Thomas W.), Feitosa, M. F. (Mary F.), Graff, M. (Misa), Fisher, V. A. (Virginia A.), Young, K. (Kristin), Barata, L. (Llilda), Deng, X. (Xuan), Czajkowski, J. (Jacek), Hadley, D. (David), Ngwa, J. S. (Julius S.), Ahluwalia, T. S. (Tarunveer S.), Chu, A. Y. (Audrey Y.), Heard-Costa, N. L. (Nancy L.), Lim, E. (Elise), Perez, J. (Jeremiah), Eicher, J. D. (John D.), Kutalik, Z. (Zoltan), Xue, L. (Luting), Mahajan, A. (Anubha), Renstrom, F. (Frida), Wu, J. (Joseph), Qi, Q. (Qibin), Ahmad, S. (Shafqat), Alfred, T. (Tamuno), Amin, N. (Najaf), Bielak, L. F. (Lawrence F.), Bonnefond, A. (Amelie), Bragg, J. (Jennifer), Cadby, G. (Gemma), Chittani, M. (Martina), Coggeshall, S. (Scott), Corre, T. (Tanguy), Direk, N. (Nese), Eriksson, J. (Joel), Fischer, K. (Krista), Gorski, M. (Mathias), Harder, M. N. (Marie Neergaard), Horikoshi, M. (Momoko), Huang, T. (Tao), Huffman, J. E. (Jennifer E.), Jackson, A. U. (Anne U.), Justesen, J. M. (Johanne Marie), Kanoni, S. (Stavroula), Kinnunen, L. (Leena), Kleber, M. E. (Marcus E.), Komulainen, P. (Pirjo), Kumari, M. (Meena), Lim, U. (Unhee), Luan, J. (Jian'an), Lyytikäinen, L.-P. (Leo-Pekka), Mangino, M. (Massimo), Manichaikul, A. (Ani), Marten, J. (Jonathan), Middelberg, R. P. (Rita P. S.), Mueller-Nurasyid, M. (Martina), Navarro, P. (Pau), Perusse, L. (Louis), Pervjakova, N. (Natalia), Sarti, C. (Cinzia), Smith, A. V. (Albert Vernon), Smith, J. A. (Jennifer A.), Stancakova, A. (Alena), Strawbridge, R. J. (Rona J.), Stringham, H. M. (Heather M.), Sung, Y. J. (Yun Ju), Tanaka, T. (Toshiko), Teumer, A. (Alexander), Trompet, S. (Stella), van der Laan, S. W. (Sander W.), van der Most, P. J. (Peter J.), Van Vliet-Ostaptchouk, J. V. (Jana V.), Vedantam, S. L. (Sailaja L.), Verweij, N. (Niek), Vink, J. M. (Jacqueline M.), Vitart, V. (Veronique), Wu, Y. (Ying), Yengo, L. (Loic), Zhang, W. (Weihua), Zhao, J. H. (Jing Hua), Zimmermann, M. E. (Martina E.), Zubair, N. (Niha), Abecasis, G. R. (Goncalo R.), Adair, L. S. (Linda S.), Afaq, S. (Saima), Afzal, U. (Uzma), Bakker, S. J. (Stephan J. L.), Bartz, T. M. (Traci M.), Beilby, J. (John), Bergman, R. N. (Richard N.), Bergmann, S. (Sven), Biffar, R. (Reiner), Blangero, J. (John), Boerwinkle, E. (Eric), Bonnycastle, L. L. (Lori L.), Bottinger, E. (Erwin), Braga, D. (Daniele), Buckley, B. M. (Brendan M.), Buyske, S. (Steve), Campbell, H. (Harry), Chambers, J. C. (John C.), Collins, F. S. (Francis S.), Curran, J. E. (Joanne E.), de Borst, G. J. (Gert J.), de Craen, A. J. (Anton J. M.), de Geus, E. J. (Eco J. C.), Dedoussis, G. (George), Delgado, G. E. (Graciela E.), den Ruijter, H. M. (Hester M.), Eiriksdottir, G. (Gudny), Eriksson, A. L. (Anna L.), Esko, T. (Tonu), Faul, J. D. (Jessica D.), Ford, I. (Ian), Forrester, T. (Terrence), Gertow, K. (Karl), Gigante, B. (Bruna), Glorioso, N. (Nicola), Gong, J. (Jian), Grallert, H. (Harald), Grammer, T. B. (Tanja B.), Grarup, N. (Niels), Haitjema, S. (Saskia), Hallmans, G. (Goran), Hamsten, A. (Anders), Hansen, T. (Torben), Harris, T. B. (Tamara B.), Hartman, C. A. (Catharina A.), Hassinen, M. (Maija), Hastie, N. D. (Nicholas D.), Heath, A. C. (Andrew C.), Hernandez, D. (Dena), Hindorff, L. (Lucia), Hocking, L. J. (Lynne J.), Hollensted, M. (Mette), Holmen, O. L. (Oddgeir L.), Homuth, G. (Georg), Hottenga, J. J. (Jouke Jan), Huang, J. (Jie), Hung, J. (Joseph), Hutri-Kähönen, N. (Nina), Ingelsson, E. (Erik), James, A. L. (Alan L.), Jansson, J.-O. (John-Olov), Järvelin, M.-R. (Marjo-Riitta), Jhun, M. A. (Min A.), Jorgensen, M. E. (Marit E.), Juonala, M. (Markus), Kähönen, M. (Mika), Karlsson, M. (Magnus), Koistinen, H. A. (Heikki A.), Kolcic, I. (Ivana), Kolovou, G. (Genovefa), Kooperberg, C. (Charles), Kramer, B. K. (Bernhard K.), Kuusisto, J. (Johanna), Kvaloy, K. (Kirsti), Lakka, T. A. (Timo A.), Langenberg, C. (Claudia), Launer, L. J. (Lenore J.), Leander, K. (Karin), Lee, N. R. (Nanette R.), Lind, L. (Lars), Lindgren, C. M. (Cecilia M.), Linneberg, A. (Allan), Lobbens, S. (Stephane), Loh, M. (Marie), Lorentzon, M. (Mattias), Luben, R. (Robert), Lubke, G. (Gitta), Ludolph-Donislawski, A. (Anja), Lupoli, S. (Sara), Madden, P. A. (Pamela A. F.), Männikkö, R. (Reija), Marques-Vidal, P. (Pedro), Martin, N. G. (Nicholas G.), McKenzie, C. A. (Colin A.), McKnight, B. (Barbara), Mellstrom, D. (Dan), Menni, C. (Cristina), Montgomery, G. W. (Grant W.), Musk, A. W. (A. W. (Bill)), Narisu, N. (Narisu), Nauck, M. (Matthias), Nolte, I. M. (Ilja M.), Oldehinkel, A. J. (Albertine J.), Olden, M. (Matthias), Ong, K. K. (Ken K.), Padmanabhan, S. (Sandosh), Peyser, P. A. (Patricia A.), Pisinger, C. (Charlotta), Porteous, D. J. (David J.), Raitakari, O. T. (Olli T.), Rankinen, T. (Tuomo), Rao, D. C. (D. C.), Rasmussen-Torvik, L. J. (Laura J.), Rawal, R. (Rajesh), Rice, T. (Treva), Ridker, P. M. (Paul M.), Rose, L. M. (Lynda M.), Bien, S. A. (Stephanie A.), Rudan, I. (Igor), Sanna, S. (Serena), Sarzynski, M. A. (Mark A.), Sattar, N. (Naveed), Savonen, K. (Kai), Schlessinger, D. (David), Scholtens, S. (Salome), Schurmann, C. (Claudia), Scott, R. A. (Robert A.), Sennblad, B. (Bengt), Siemelink, M. A. (Marten A.), Silbernagel, G. (Gunther), Slagboom, P. E. (P. Eline), Snieder, H. (Harold), Staessen, J. A. (Jan A.), Stott, D. J. (David J.), Swertz, M. A. (Morris A.), Swift, A. J. (Amy J.), Taylor, K. D. (Kent D.), Tayo, B. O. (Bamidele O.), Thorand, B. (Barbara), Thuillier, D. (Dorothee), Tuomilehto, J. (Jaakko), Uitterlinden, A. G. (Andre G.), Vandenput, L. (Liesbeth), Vohl, M.-C. (Marie-Claude), Volzke, H. (Henry), Vonk, J. M. (Judith M.), Waeber, G. (Gerard), Waldenberger, M. (Melanie), Westendorp, R. G. (R. G. J.), Wild, S. (Sarah), Willemsen, G. (Gonneke), Wolffenbuttel, B. H. (Bruce H. R.), Wong, A. (Andrew), Wright, A. F. (Alan F.), Zhao, W. (Wei), Zillikens, M. C. (M. Carola), Baldassarre, D. (Damiano), Balkau, B. (Beverley), Bandinelli, S. (Stefania), Boger, C. A. (Carsten A.), Boomsma, D. I. (Dorret I.), Bouchard, C. (Claude), Bruinenberg, M. (Marcel), Chasman, D. I. (Daniel I.), Chen, Y. I. (Yii-Der Ida), Chines, P. S. (Peter S.), Cooper, R. S. (Richard S.), Cucca, F. (Francesco), Cusi, D. (Daniele), de Faire, U. (Ulf), Ferrucci, L. (Luigi), Franks, P. W. (Paul W.), Froguel, P. (Philippe), Gordon-Larsen, P. (Penny), Grabe, H.-J. (Hans-Jorgen), Gudnason, V. (Vilmundur), Haiman, C. A. (Christopher A.), Hayward, C. (Caroline), Hveem, K. (Kristian), Johnson, A. D. (Andrew D.), Jukema, W. (Wouter), Kardia, S. L. (Sharon L. R.), Kivimäki, M. (Mika), Kooner, J. S. (Jaspal S.), Kuh, D. (Diana), Laakso, M. (Markku), Lehtimäki, T. (Terho), Le Marchand, L. (Loic), Marz, W. (Winfried), McCarthy, M. I. (Mark I.), Metspalu, A. (Andres), Morris, A. P. (Andrew P.), Ohlsson, C. (Claes), Palmer, L. J. (Lyle J.), Pasterkamp, G. (Gerard), Pedersen, O. (Oluf), Peters, A. (Annette), Peters, U. (Ulrike), Polasek, O. (Ozren), Psaty, B. M. (Bruce M.), Qi, L. (Lu), Rauramaa, R. (Rainer), Smith, B. H. (Blair H.), Sorensen, T. I. (Thorkild I. A.), Strauch, K. (Konstantin), Tiemeier, H. (Henning), Tremoli, E. (Elena), Van der Harst, P. (Pim), Vestergaard, H. (Henrik), Vollenweider, P. (Peter), Wareham, N. J. (Nicholas J.), Weir, D. R. (David R.), Whitfield, J. B. (John B.), Wilson, J. F. (James F.), Tyrrell, J. (Jessica), Frayling, T. M. (Timothy M.), Barroso, I. (Ines), Boehnke, M. (Michael), Deloukas, P. (Panagiotis), Fox, C. S. (Caroline S.), Hirschhorn, J. N. (Joel N.), Hunter, D. J. (David J.), Spector, T. D. (Tim D.), Strachan, D. P. (David P.), van Duijn, C. M. (Cornelia M.), Heid, I. M. (Iris M.), Mohlke, K. L. (Karen L.), Marchini, J. (Jonathan), Loos, R. J. (Ruth J. F.), Kilpeläinen, T. O. (Tuomas O.), Liu, C.-T. (Ching-Ti), Borecki, I. B. (Ingrid B.), North, K. E. (Kari E.), Cupples, L. A. (L. Adrienne), Justice, A. E. (Anne E.), Winkler, T. W. (Thomas W.), Feitosa, M. F. (Mary F.), Graff, M. (Misa), Fisher, V. A. (Virginia A.), Young, K. (Kristin), Barata, L. (Llilda), Deng, X. (Xuan), Czajkowski, J. (Jacek), Hadley, D. (David), Ngwa, J. S. (Julius S.), Ahluwalia, T. S. (Tarunveer S.), Chu, A. Y. (Audrey Y.), Heard-Costa, N. L. (Nancy L.), Lim, E. (Elise), Perez, J. (Jeremiah), Eicher, J. D. (John D.), Kutalik, Z. (Zoltan), Xue, L. (Luting), Mahajan, A. (Anubha), Renstrom, F. (Frida), Wu, J. (Joseph), Qi, Q. (Qibin), Ahmad, S. (Shafqat), Alfred, T. (Tamuno), Amin, N. (Najaf), Bielak, L. F. (Lawrence F.), Bonnefond, A. (Amelie), Bragg, J. (Jennifer), Cadby, G. (Gemma), Chittani, M. (Martina), Coggeshall, S. (Scott), Corre, T. (Tanguy), Direk, N. (Nese), Eriksson, J. (Joel), Fischer, K. (Krista), Gorski, M. (Mathias), Harder, M. N. (Marie Neergaard), Horikoshi, M. (Momoko), Huang, T. (Tao), Huffman, J. E. (Jennifer E.), Jackson, A. U. (Anne U.), Justesen, J. M. (Johanne Marie), Kanoni, S. (Stavroula), Kinnunen, L. (Leena), Kleber, M. E. (Marcus E.), Komulainen, P. (Pirjo), Kumari, M. (Meena), Lim, U. (Unhee), Luan, J. (Jian'an), Lyytikäinen, L.-P. (Leo-Pekka), Mangino, M. (Massimo), Manichaikul, A. (Ani), Marten, J. (Jonathan), Middelberg, R. P. (Rita P. S.), Mueller-Nurasyid, M. (Martina), Navarro, P. (Pau), Perusse, L. (Louis), Pervjakova, N. (Natalia), Sarti, C. (Cinzia), Smith, A. V. (Albert Vernon), Smith, J. A. (Jennifer A.), Stancakova, A. (Alena), Strawbridge, R. J. (Rona J.), Stringham, H. M. (Heather M.), Sung, Y. J. (Yun Ju), Tanaka, T. (Toshiko), Teumer, A. (Alexander), Trompet, S. (Stella), van der Laan, S. W. (Sander W.), van der Most, P. J. (Peter J.), Van Vliet-Ostaptchouk, J. V. (Jana V.), Vedantam, S. L. (Sailaja L.), Verweij, N. (Niek), Vink, J. M. (Jacqueline M.), Vitart, V. (Veronique), Wu, Y. (Ying), Yengo, L. (Loic), Zhang, W. (Weihua), Zhao, J. H. (Jing Hua), Zimmermann, M. E. (Martina E.), Zubair, N. (Niha), Abecasis, G. R. (Goncalo R.), Adair, L. S. (Linda S.), Afaq, S. (Saima), Afzal, U. (Uzma), Bakker, S. J. (Stephan J. L.), Bartz, T. M. (Traci M.), Beilby, J. (John), Bergman, R. N. (Richard N.), Bergmann, S. (Sven), Biffar, R. (Reiner), Blangero, J. (John), Boerwinkle, E. (Eric), Bonnycastle, L. L. (Lori L.), Bottinger, E. (Erwin), Braga, D. (Daniele), Buckley, B. M. (Brendan M.), Buyske, S. (Steve), Campbell, H. (Harry), Chambers, J. C. (John C.), Collins, F. S. (Francis S.), Curran, J. E. (Joanne E.), de Borst, G. J. (Gert J.), de Craen, A. J. (Anton J. M.), de Geus, E. J. (Eco J. C.), Dedoussis, G. (George), Delgado, G. E. (Graciela E.), den Ruijter, H. M. (Hester M.), Eiriksdottir, G. (Gudny), Eriksson, A. L. (Anna L.), Esko, T. (Tonu), Faul, J. D. (Jessica D.), Ford, I. (Ian), Forrester, T. (Terrence), Gertow, K. (Karl), Gigante, B. (Bruna), Glorioso, N. (Nicola), Gong, J. (Jian), Grallert, H. (Harald), Grammer, T. B. (Tanja B.), Grarup, N. (Niels), Haitjema, S. (Saskia), Hallmans, G. (Goran), Hamsten, A. (Anders), Hansen, T. (Torben), Harris, T. B. (Tamara B.), Hartman, C. A. (Catharina A.), Hassinen, M. (Maija), Hastie, N. D. (Nicholas D.), Heath, A. C. (Andrew C.), Hernandez, D. (Dena), Hindorff, L. (Lucia), Hocking, L. J. (Lynne J.), Hollensted, M. (Mette), Holmen, O. L. (Oddgeir L.), Homuth, G. (Georg), Hottenga, J. J. (Jouke Jan), Huang, J. (Jie), Hung, J. (Joseph), Hutri-Kähönen, N. (Nina), Ingelsson, E. (Erik), James, A. L. (Alan L.), Jansson, J.-O. (John-Olov), Järvelin, M.-R. (Marjo-Riitta), Jhun, M. A. (Min A.), Jorgensen, M. E. (Marit E.), Juonala, M. (Markus), Kähönen, M. (Mika), Karlsson, M. (Magnus), Koistinen, H. A. (Heikki A.), Kolcic, I. (Ivana), Kolovou, G. (Genovefa), Kooperberg, C. (Charles), Kramer, B. K. (Bernhard K.), Kuusisto, J. (Johanna), Kvaloy, K. (Kirsti), Lakka, T. A. (Timo A.), Langenberg, C. (Claudia), Launer, L. J. (Lenore J.), Leander, K. (Karin), Lee, N. R. (Nanette R.), Lind, L. (Lars), Lindgren, C. M. (Cecilia M.), Linneberg, A. (Allan), Lobbens, S. (Stephane), Loh, M. (Marie), Lorentzon, M. (Mattias), Luben, R. (Robert), Lubke, G. (Gitta), Ludolph-Donislawski, A. (Anja), Lupoli, S. (Sara), Madden, P. A. (Pamela A. F.), Männikkö, R. (Reija), Marques-Vidal, P. (Pedro), Martin, N. G. (Nicholas G.), McKenzie, C. A. (Colin A.), McKnight, B. (Barbara), Mellstrom, D. (Dan), Menni, C. (Cristina), Montgomery, G. W. (Grant W.), Musk, A. W. (A. W. (Bill)), Narisu, N. (Narisu), Nauck, M. (Matthias), Nolte, I. M. (Ilja M.), Oldehinkel, A. J. (Albertine J.), Olden, M. (Matthias), Ong, K. K. (Ken K.), Padmanabhan, S. (Sandosh), Peyser, P. A. (Patricia A.), Pisinger, C. (Charlotta), Porteous, D. J. (David J.), Raitakari, O. T. (Olli T.), Rankinen, T. (Tuomo), Rao, D. C. (D. C.), Rasmussen-Torvik, L. J. (Laura J.), Rawal, R. (Rajesh), Rice, T. (Treva), Ridker, P. M. (Paul M.), Rose, L. M. (Lynda M.), Bien, S. A. (Stephanie A.), Rudan, I. (Igor), Sanna, S. (Serena), Sarzynski, M. A. (Mark A.), Sattar, N. (Naveed), Savonen, K. (Kai), Schlessinger, D. (David), Scholtens, S. (Salome), Schurmann, C. (Claudia), Scott, R. A. (Robert A.), Sennblad, B. (Bengt), Siemelink, M. A. (Marten A.), Silbernagel, G. (Gunther), Slagboom, P. E. (P. Eline), Snieder, H. (Harold), Staessen, J. A. (Jan A.), Stott, D. J. (David J.), Swertz, M. A. (Morris A.), Swift, A. J. (Amy J.), Taylor, K. D. (Kent D.), Tayo, B. O. (Bamidele O.), Thorand, B. (Barbara), Thuillier, D. (Dorothee), Tuomilehto, J. (Jaakko), Uitterlinden, A. G. (Andre G.), Vandenput, L. (Liesbeth), Vohl, M.-C. (Marie-Claude), Volzke, H. (Henry), Vonk, J. M. (Judith M.), Waeber, G. (Gerard), Waldenberger, M. (Melanie), Westendorp, R. G. (R. G. J.), Wild, S. (Sarah), Willemsen, G. (Gonneke), Wolffenbuttel, B. H. (Bruce H. R.), Wong, A. (Andrew), Wright, A. F. (Alan F.), Zhao, W. (Wei), Zillikens, M. C. (M. Carola), Baldassarre, D. (Damiano), Balkau, B. (Beverley), Bandinelli, S. (Stefania), Boger, C. A. (Carsten A.), Boomsma, D. I. (Dorret I.), Bouchard, C. (Claude), Bruinenberg, M. (Marcel), Chasman, D. I. (Daniel I.), Chen, Y. I. (Yii-Der Ida), Chines, P. S. (Peter S.), Cooper, R. S. (Richard S.), Cucca, F. (Francesco), Cusi, D. (Daniele), de Faire, U. (Ulf), Ferrucci, L. (Luigi), Franks, P. W. (Paul W.), Froguel, P. (Philippe), Gordon-Larsen, P. (Penny), Grabe, H.-J. (Hans-Jorgen), Gudnason, V. (Vilmundur), Haiman, C. A. (Christopher A.), Hayward, C. (Caroline), Hveem, K. (Kristian), Johnson, A. D. (Andrew D.), Jukema, W. (Wouter), Kardia, S. L. (Sharon L. R.), Kivimäki, M. (Mika), Kooner, J. S. (Jaspal S.), Kuh, D. (Diana), Laakso, M. (Markku), Lehtimäki, T. (Terho), Le Marchand, L. (Loic), Marz, W. (Winfried), McCarthy, M. I. (Mark I.), Metspalu, A. (Andres), Morris, A. P. (Andrew P.), Ohlsson, C. (Claes), Palmer, L. J. (Lyle J.), Pasterkamp, G. (Gerard), Pedersen, O. (Oluf), Peters, A. (Annette), Peters, U. (Ulrike), Polasek, O. (Ozren), Psaty, B. M. (Bruce M.), Qi, L. (Lu), Rauramaa, R. (Rainer), Smith, B. H. (Blair H.), Sorensen, T. I. (Thorkild I. A.), Strauch, K. (Konstantin), Tiemeier, H. (Henning), Tremoli, E. (Elena), Van der Harst, P. (Pim), Vestergaard, H. (Henrik), Vollenweider, P. (Peter), Wareham, N. J. (Nicholas J.), Weir, D. R. (David R.), Whitfield, J. B. (John B.), Wilson, J. F. (James F.), Tyrrell, J. (Jessica), Frayling, T. M. (Timothy M.), Barroso, I. (Ines), Boehnke, M. (Michael), Deloukas, P. (Panagiotis), Fox, C. S. (Caroline S.), Hirschhorn, J. N. (Joel N.), Hunter, D. J. (David J.), Spector, T. D. (Tim D.), Strachan, D. P. (David P.), van Duijn, C. M. (Cornelia M.), Heid, I. M. (Iris M.), Mohlke, K. L. (Karen L.), Marchini, J. (Jonathan), Loos, R. J. (Ruth J. F.), Kilpeläinen, T. O. (Tuomas O.), Liu, C.-T. (Ching-Ti), Borecki, I. B. (Ingrid B.), North, K. E. (Kari E.), and Cupples, L. A. (L. Adrienne)

Abstract

Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87% European descent) to identify loci influencing BMI and central adiposity, measured as waist circumference and waist-to-hip ratio both adjusted for BMI. We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. We show consistent direction of effect for all identified loci and significance for 18 novel and for 5 interaction loci in an independent study sample. These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting for environment in genetic analyses. Our results suggest that tobacco smoking may alter the genetic susceptibility to overall adiposity and body fat distribution.

Published
2017

34. Genome-wide physical activity interactions in adiposity. A meta-analysis of 200,452 adults

Author

Graff, M, Scott, RA, Justice, AE, Young, KL, Feitosa, MF, Barata, L, Winkler, TW, Chu, AY, Mahajan, A, Hadley, D, Xue, LT, Workalemahu, T, Heard-Costa, NL, den Hoed, M, Ahluwalia, TS, Qi, QB, Ngwa, JS, Renstrom, F, Quaye, L, Eicher, JD, Hayes, J E, Cornelis, M, Kutalik, Z, Lim, E, Luan, J, Huffman, JE, Zhang, WH, Zhao, W, Griffin, PJ, Haller, T, Ahmad, Shahzad, Marques-Vidal, PM, Bien, S, Yengo, L, Teumer, A, Smith, AV, Kumari, M, Harder, MN, Justesen, JM, Kleber, ME, Hollensted, M, Lohman, K, Rivera, NV, Whitfield, JB, Zhao, JH, Stringham, HM, Lyytikainen, LP, Huppertz, C, Willemsen, G, Peyrot, WJ, Wu, Fenny, Kristiansson, K, Demirkan, Ayse, Fornage, M, Hassinen, M, Bielak, LF, Cadby, G, Tanaka, T, Magl, R, van der Most, PJ, Jackson, AU, Bragg-Gresham, JL, Vitart, V, Marten, J, Navarro, P, Bellis, C, Pasko, D, Johansson, A, Snitker, S, Cheng, YC, Eriksson, J, Lim, U, Aadahl, M, Adair, LS, Amin, Najaf, Balkau, B, Auvinen, J, Beilby, J, Bergman, RN, Bergmann, S, Bertoni, AG, Blangero, J, Bonnefond, A, Bonnycastle, LL, Borja, JB, Brage, S, Busonero, F, Buyske, S, Campbell, H, Chines, PS, Collins, FS, Corre, T, Smith, GD, Delgado, GE, Dueker, N, Dorr, M, Ebeling, T, Eiriksdottir, G, Esko, T, Faul, JD, Fu, M, Faerch, K, Gieger, C, Glaser, S, Gong, J, Gordon-Larsen, P, Grallert, H, Grammer, TB, Grarup, N, Van Grootheest, G, Harald, K, Hastie, ND, Havulinna, AS, Hernandez, D, Hindorff, L, Hocking, LJ, Holmens, OL, Holzapfel, C, Hottenga, JJ, Huang, J, Huang, T, Hui, J, Huth, C, Hutri-Kahonen, N, James, AL, Jansson, JO, Jhun, MA, Juonala, M, Kinnunen, L, Koistinen, HA, Kolcic, I, Komulainen, P, Kuusisto, J, Kvaloy, K, Kahonen, M, Lakka, TA, Launer, LJ, Lehne, B, Lindgren, CM, Lorentzon, M, Luben, R, Marre, M (Michel), Milaneschi, Y, Monda, KL, Montgomery, GW, de Moor, MHM, Mulas, A, Muller-Nurasyid, M, Musk, AW, Mannikko, R, Mannisto, S, Narisu, N, Nauck, M, Nettleton, JA, Nolte, IM, Oldehinkel, AJ (A.), Olden, M, Ong, KK, Padmanabhan, S, Paternoster, L, Perez, J, Perola, M, Peters, A, Peters, U, Peyser, PA, Prokopenko, I, Puolijoki, H, Raitakari, OT, Rankinen, T, Rasmussen-Torvik, LJ, Rawal, R, Ridker, PM, Rose, LM, Rudan, I, Sarti, C, Sarzynski, MA, Savonen, K, Scott, WR, Sanna, S, Shuldiner, AR, Sidney, S, Silbernagel, G, Smith, BH, Smith, JA, Snieder, H, Stancakova, A, Sternfeld, B, Swift, AJ, Tammelin, T, Tan, ST, Thorand, B, Thuillier, D, Vandenput, L, Vestergaard, H, van Vliet-Ostaptchouk, JV, Vohl, MC, Volker, U, Waeber, G, Walker, M, Wild, S, Wong, A, Wright, AF, Zillikens, M.C., Zubair, N, Haiman, CA, LeMarchand, L, Gyllensten, U, Ohlsson, C, Ohlsson, CC, Hofman, Bert, Rivadeneira, Fernando, Uitterlinden, André, Perusse, L, Wilson, JF, Hayward, C, Polasek, O, Cucca, F, Hveem, K, Hartman, CA, Tonjes, A, Bandinelli, S, Palmer, LJ, Kardia, SLR, Rauramaa, R, Sorensen, TIA, Tuomilehto, J, Salomaa, V, Penninx, B, de Geus, EJC, Boomsma, DI, Lehtimaki, T, Mangino, M, Laakso, M, Bouchard, C, Martin, NG, Kuh, D, Liu, YM, Linneberg, A, Marz, W, Strauch, K, Kivimaki, M, Harris, TB, Gudnason, V, Volzke, H, Qi, L, Jarvelin, MR, Chambers, JC, Kooner, JS, Froguel, P, Kooperberg, C, Vollenweider, P, Hallmans, G, Hansen, T, Pedersen, O, Metspalu, A, Wareham, NJ, Langenberg, C, Weir, DR, Porteous, DJ, Boerwinkle, E, Chasman, DI, Abecasis, GR, Barroso, I, McCarthy, MI, Frayling, TM, O'Connell, JR, Duijn, Cornelia, Boehnke, M, Heid, IM, Mohlke, KL, Strachan, DP, Fox, CS, Liu, CT, Hirschhorn, JN, Klein, RJ, Johnson, AD, Borecki, IB, Franks, PW, North, KE, Cupples, LA, Loos, RJF, Kilpelainen, TO, Graff, M, Scott, RA, Justice, AE, Young, KL, Feitosa, MF, Barata, L, Winkler, TW, Chu, AY, Mahajan, A, Hadley, D, Xue, LT, Workalemahu, T, Heard-Costa, NL, den Hoed, M, Ahluwalia, TS, Qi, QB, Ngwa, JS, Renstrom, F, Quaye, L, Eicher, JD, Hayes, J E, Cornelis, M, Kutalik, Z, Lim, E, Luan, J, Huffman, JE, Zhang, WH, Zhao, W, Griffin, PJ, Haller, T, Ahmad, Shahzad, Marques-Vidal, PM, Bien, S, Yengo, L, Teumer, A, Smith, AV, Kumari, M, Harder, MN, Justesen, JM, Kleber, ME, Hollensted, M, Lohman, K, Rivera, NV, Whitfield, JB, Zhao, JH, Stringham, HM, Lyytikainen, LP, Huppertz, C, Willemsen, G, Peyrot, WJ, Wu, Fenny, Kristiansson, K, Demirkan, Ayse, Fornage, M, Hassinen, M, Bielak, LF, Cadby, G, Tanaka, T, Magl, R, van der Most, PJ, Jackson, AU, Bragg-Gresham, JL, Vitart, V, Marten, J, Navarro, P, Bellis, C, Pasko, D, Johansson, A, Snitker, S, Cheng, YC, Eriksson, J, Lim, U, Aadahl, M, Adair, LS, Amin, Najaf, Balkau, B, Auvinen, J, Beilby, J, Bergman, RN, Bergmann, S, Bertoni, AG, Blangero, J, Bonnefond, A, Bonnycastle, LL, Borja, JB, Brage, S, Busonero, F, Buyske, S, Campbell, H, Chines, PS, Collins, FS, Corre, T, Smith, GD, Delgado, GE, Dueker, N, Dorr, M, Ebeling, T, Eiriksdottir, G, Esko, T, Faul, JD, Fu, M, Faerch, K, Gieger, C, Glaser, S, Gong, J, Gordon-Larsen, P, Grallert, H, Grammer, TB, Grarup, N, Van Grootheest, G, Harald, K, Hastie, ND, Havulinna, AS, Hernandez, D, Hindorff, L, Hocking, LJ, Holmens, OL, Holzapfel, C, Hottenga, JJ, Huang, J, Huang, T, Hui, J, Huth, C, Hutri-Kahonen, N, James, AL, Jansson, JO, Jhun, MA, Juonala, M, Kinnunen, L, Koistinen, HA, Kolcic, I, Komulainen, P, Kuusisto, J, Kvaloy, K, Kahonen, M, Lakka, TA, Launer, LJ, Lehne, B, Lindgren, CM, Lorentzon, M, Luben, R, Marre, M (Michel), Milaneschi, Y, Monda, KL, Montgomery, GW, de Moor, MHM, Mulas, A, Muller-Nurasyid, M, Musk, AW, Mannikko, R, Mannisto, S, Narisu, N, Nauck, M, Nettleton, JA, Nolte, IM, Oldehinkel, AJ (A.), Olden, M, Ong, KK, Padmanabhan, S, Paternoster, L, Perez, J, Perola, M, Peters, A, Peters, U, Peyser, PA, Prokopenko, I, Puolijoki, H, Raitakari, OT, Rankinen, T, Rasmussen-Torvik, LJ, Rawal, R, Ridker, PM, Rose, LM, Rudan, I, Sarti, C, Sarzynski, MA, Savonen, K, Scott, WR, Sanna, S, Shuldiner, AR, Sidney, S, Silbernagel, G, Smith, BH, Smith, JA, Snieder, H, Stancakova, A, Sternfeld, B, Swift, AJ, Tammelin, T, Tan, ST, Thorand, B, Thuillier, D, Vandenput, L, Vestergaard, H, van Vliet-Ostaptchouk, JV, Vohl, MC, Volker, U, Waeber, G, Walker, M, Wild, S, Wong, A, Wright, AF, Zillikens, M.C., Zubair, N, Haiman, CA, LeMarchand, L, Gyllensten, U, Ohlsson, C, Ohlsson, CC, Hofman, Bert, Rivadeneira, Fernando, Uitterlinden, André, Perusse, L, Wilson, JF, Hayward, C, Polasek, O, Cucca, F, Hveem, K, Hartman, CA, Tonjes, A, Bandinelli, S, Palmer, LJ, Kardia, SLR, Rauramaa, R, Sorensen, TIA, Tuomilehto, J, Salomaa, V, Penninx, B, de Geus, EJC, Boomsma, DI, Lehtimaki, T, Mangino, M, Laakso, M, Bouchard, C, Martin, NG, Kuh, D, Liu, YM, Linneberg, A, Marz, W, Strauch, K, Kivimaki, M, Harris, TB, Gudnason, V, Volzke, H, Qi, L, Jarvelin, MR, Chambers, JC, Kooner, JS, Froguel, P, Kooperberg, C, Vollenweider, P, Hallmans, G, Hansen, T, Pedersen, O, Metspalu, A, Wareham, NJ, Langenberg, C, Weir, DR, Porteous, DJ, Boerwinkle, E, Chasman, DI, Abecasis, GR, Barroso, I, McCarthy, MI, Frayling, TM, O'Connell, JR, Duijn, Cornelia, Boehnke, M, Heid, IM, Mohlke, KL, Strachan, DP, Fox, CS, Liu, CT, Hirschhorn, JN, Klein, RJ, Johnson, AD, Borecki, IB, Franks, PW, North, KE, Cupples, LA, Loos, RJF, and Kilpelainen, TO

Published
2017

35. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits

Author

Justice, AE, Winkler, TW, Feitosa, MF, Graff, M, Fisher, V A, Young, K, Barata, L, Deng, X, Czajkowski, J, Hadley, D, Ngwa, JS, Ahluwalia, TS, Chu, AY, Heard-Costa, NL, Lim, E, Perez, J, Eicher, JD, Kutalik, Z, Xue, L, Mahajan, A, Renstrom, F, Wu, J, Qi, QB, Ahmad, Shahzad, Alfred, T, Amin, Najaf, Bielak, LF, Bonnefond, A, Bragg, J, Cadby, G, Chittani, M, Coggeshall, S, Corre, T, Direk, N, Eriksson, J, Fischer, K, Gorski, M, Harder, MN, Horikoshi, M, Huang, T, Huffman, JE, Jackson, AU, Justesen, JM, Kanoni, S, Kinnunen, L, Kleber, ME, Komulainen, P, Kumari, M, Lim, U, Luan, J, Lyytikainen, LP, Mangino, M, Manichaikul, A, Marten, J, Middelberg, RPS, Mueller-Nurasyid, M, Navarro, P, Perusse, L, Pervjakova, N, Sarti, C, Smith, AV, Smith, JA, Stancakova, A, Strawbridge, RJ, Stringham, HM, Sung, YJ, Tanaka, T, Teumer, A, Trompet, S, van der Laan, SW, van der Most, PJ, van Vliet-Ostaptchouk, JV, Vedantam, SL, Verweij, N (Niek), Vink, JM, Vitart, V, Wu, Fenny, Yengo, L, Zhang, WH, Zhao, JH, Zimmermann, ME, Zubair, N, Abecasis, GR, Adair, LS, Afaq, S, Afzal, U, Bakker, SJL, Bartz, TM, Beilby, J, Bergman, RN, Bergmann, S, Biffar, R, Blangero, J, Boerwinkle, E, Bonnycastle, LL, Bottinger, E, Braga, D, Buckley, BM, Buyske, S, Campbell, H, Chambers, JC, Collins, FS, Curran, JE, de Borst, GJ, de Craen, AJM, de Geus, EJC, Dedoussis, G, Delgado, GE, den Ruijter, HM, Eiriksdottir, G, Eriksson, AL, Esko, T, Faul, JD, Ford, I, Forrester, T, Gertow, K, Gigante, B, Glorioso, N, Gong, J, Grallert, H, Grammer, TB, Grarup, N, Haitjema, S, Hallmans, G, Hamsten, A, Hansen, T, Harris, TB, Hartman, CA, Hassinen, M, Hastie, ND, Heath, AC, Hernandez, D, Hindorff, L, Hocking, LJ, Hollensted, M, Holmen, OL, Homuth, G, Hottenga, JJ, Huang, J, Hung, J, Hutri-Kahonen, N, Ingelsson, E, James, AL, Jansson, JO, Jarvelin, MR, Jhun, MA, Jorgensen, ME, Juonala, M, Kahonen, M, Karlsson, M, Koistinen, HA, Kolcic, I, Kolovou, G, Kooperberg, C, Kramer, BK, Kuusisto, J, Kvaloy, K, Lakka, TA, Langenberg, C, Launer, LJ, Leander, K, Lee, NR, Lind, L, Lindgren, CM, Linneberg, A, Lobbens, S, Loh, M, Lorentzon, M, Luben, R, Lubke, G, Ludolph-Donislawski, A, Lupoli, S, Madden, PAF, Mannikko, R, Marques-Vidal, P, Martin, NG, McKenzie, CA, McKnight, B, Mellstrom, D, Menni, C, Montgomery, GW, Musk, AW, Narisu, N, Nauck, M, Nolte, IM, Oldehinkel, AJ, Olden, M, Ong, KK, Padmanabhan, S, Peyser, PA, Pisinger, C, Porteous, DJ, Raitakari, OT, Rankinen, T, Rao, DC, Rasmussen-Torvik, LJ, Rawal, R, Rice, T, Ridker, PM, Rose, LM, Bien, SA, Rudan, I, Sanna, S, Sarzynski, MA, Sattar, N, Savonen, K, Schlessinger, D, Scholtens, s, Schurmann, C, Scott, RA, Sennblad, B, Siemelink, MA, Silbernagel, G, Slagboom, PE (Eline), Snieder, H, Staessen, JA, Stott, DJ, Swertz, MA, Swift, AJ, Taylor, KD, Tayo, BO, Thorand, B, Thuillier, D, Tuomilehto, J, Uitterlinden, André, Vandenput, L, Vohl, MC, Volzke, H, Vonk, JM, Waeber, G, Waldenberger, M, Westendorp, RGJ, Wild, S, Willemsen, G, Wolffenbuttel, BHR, Wong, A, Wright, AF, Zhao, W, Zillikens, M.C., Baldassarre, D, Balkau, B, Bandinelli, S, Boger, CA, Boomsma, DI, Bouchard, C, Bruinenberg, M, Chasman, DI, Chen, YDI, Chines, PS, Cooper, RS, Cucca, F, Cusi, D, de Faire, U, Ferrucci, L, Franks, PW, Froguel, P, Gordon-Larsen, P, Grabe, HJ, Gudnason, V, Haiman, CA, Hayward, C, Hveem, K, Johnson, AD, Jukema, W, Kardia, SLR, Kivimaki, M, Kooner, JS, Kuh, D, Laakso, M, Lehtimaki, T, Le Marchand, L, Marz, W, McCarthy, MI, Metspalu, A, Morris, AP, Ohlsson, C, Palmer, LJ, Pasterkamp, G, Pedersen, O, Peters, A, Peters, U, Polasek, O, Psaty, BM, Qi, L, Rauramaa, R, Smith, BH, Sorensen, TIA, Strauch, K, Tiemeier, Henning, Tremoli, E, van der Harst, P, Vestergaard, H, Vollenweider, P, Wareham, NJ, Weir, DR, Whitfield, JB, Wilson, JF, Tyrrell, J, Frayling, TM, Barroso, I, Boehnke, M, Deloukas, P, Fox, CS, Hirschhorn, JN, Hunter, DJ, Spector, TD, Strachan, DP, Duijn, Cornelia, Heid, IM, Mohlke, KL, Marchini, J, Loos, RJF, Kilpelainen, TO, Liu, CT, Borecki, IB, North, KE, Cupples, LA, Justice, AE, Winkler, TW, Feitosa, MF, Graff, M, Fisher, V A, Young, K, Barata, L, Deng, X, Czajkowski, J, Hadley, D, Ngwa, JS, Ahluwalia, TS, Chu, AY, Heard-Costa, NL, Lim, E, Perez, J, Eicher, JD, Kutalik, Z, Xue, L, Mahajan, A, Renstrom, F, Wu, J, Qi, QB, Ahmad, Shahzad, Alfred, T, Amin, Najaf, Bielak, LF, Bonnefond, A, Bragg, J, Cadby, G, Chittani, M, Coggeshall, S, Corre, T, Direk, N, Eriksson, J, Fischer, K, Gorski, M, Harder, MN, Horikoshi, M, Huang, T, Huffman, JE, Jackson, AU, Justesen, JM, Kanoni, S, Kinnunen, L, Kleber, ME, Komulainen, P, Kumari, M, Lim, U, Luan, J, Lyytikainen, LP, Mangino, M, Manichaikul, A, Marten, J, Middelberg, RPS, Mueller-Nurasyid, M, Navarro, P, Perusse, L, Pervjakova, N, Sarti, C, Smith, AV, Smith, JA, Stancakova, A, Strawbridge, RJ, Stringham, HM, Sung, YJ, Tanaka, T, Teumer, A, Trompet, S, van der Laan, SW, van der Most, PJ, van Vliet-Ostaptchouk, JV, Vedantam, SL, Verweij, N (Niek), Vink, JM, Vitart, V, Wu, Fenny, Yengo, L, Zhang, WH, Zhao, JH, Zimmermann, ME, Zubair, N, Abecasis, GR, Adair, LS, Afaq, S, Afzal, U, Bakker, SJL, Bartz, TM, Beilby, J, Bergman, RN, Bergmann, S, Biffar, R, Blangero, J, Boerwinkle, E, Bonnycastle, LL, Bottinger, E, Braga, D, Buckley, BM, Buyske, S, Campbell, H, Chambers, JC, Collins, FS, Curran, JE, de Borst, GJ, de Craen, AJM, de Geus, EJC, Dedoussis, G, Delgado, GE, den Ruijter, HM, Eiriksdottir, G, Eriksson, AL, Esko, T, Faul, JD, Ford, I, Forrester, T, Gertow, K, Gigante, B, Glorioso, N, Gong, J, Grallert, H, Grammer, TB, Grarup, N, Haitjema, S, Hallmans, G, Hamsten, A, Hansen, T, Harris, TB, Hartman, CA, Hassinen, M, Hastie, ND, Heath, AC, Hernandez, D, Hindorff, L, Hocking, LJ, Hollensted, M, Holmen, OL, Homuth, G, Hottenga, JJ, Huang, J, Hung, J, Hutri-Kahonen, N, Ingelsson, E, James, AL, Jansson, JO, Jarvelin, MR, Jhun, MA, Jorgensen, ME, Juonala, M, Kahonen, M, Karlsson, M, Koistinen, HA, Kolcic, I, Kolovou, G, Kooperberg, C, Kramer, BK, Kuusisto, J, Kvaloy, K, Lakka, TA, Langenberg, C, Launer, LJ, Leander, K, Lee, NR, Lind, L, Lindgren, CM, Linneberg, A, Lobbens, S, Loh, M, Lorentzon, M, Luben, R, Lubke, G, Ludolph-Donislawski, A, Lupoli, S, Madden, PAF, Mannikko, R, Marques-Vidal, P, Martin, NG, McKenzie, CA, McKnight, B, Mellstrom, D, Menni, C, Montgomery, GW, Musk, AW, Narisu, N, Nauck, M, Nolte, IM, Oldehinkel, AJ, Olden, M, Ong, KK, Padmanabhan, S, Peyser, PA, Pisinger, C, Porteous, DJ, Raitakari, OT, Rankinen, T, Rao, DC, Rasmussen-Torvik, LJ, Rawal, R, Rice, T, Ridker, PM, Rose, LM, Bien, SA, Rudan, I, Sanna, S, Sarzynski, MA, Sattar, N, Savonen, K, Schlessinger, D, Scholtens, s, Schurmann, C, Scott, RA, Sennblad, B, Siemelink, MA, Silbernagel, G, Slagboom, PE (Eline), Snieder, H, Staessen, JA, Stott, DJ, Swertz, MA, Swift, AJ, Taylor, KD, Tayo, BO, Thorand, B, Thuillier, D, Tuomilehto, J, Uitterlinden, André, Vandenput, L, Vohl, MC, Volzke, H, Vonk, JM, Waeber, G, Waldenberger, M, Westendorp, RGJ, Wild, S, Willemsen, G, Wolffenbuttel, BHR, Wong, A, Wright, AF, Zhao, W, Zillikens, M.C., Baldassarre, D, Balkau, B, Bandinelli, S, Boger, CA, Boomsma, DI, Bouchard, C, Bruinenberg, M, Chasman, DI, Chen, YDI, Chines, PS, Cooper, RS, Cucca, F, Cusi, D, de Faire, U, Ferrucci, L, Franks, PW, Froguel, P, Gordon-Larsen, P, Grabe, HJ, Gudnason, V, Haiman, CA, Hayward, C, Hveem, K, Johnson, AD, Jukema, W, Kardia, SLR, Kivimaki, M, Kooner, JS, Kuh, D, Laakso, M, Lehtimaki, T, Le Marchand, L, Marz, W, McCarthy, MI, Metspalu, A, Morris, AP, Ohlsson, C, Palmer, LJ, Pasterkamp, G, Pedersen, O, Peters, A, Peters, U, Polasek, O, Psaty, BM, Qi, L, Rauramaa, R, Smith, BH, Sorensen, TIA, Strauch, K, Tiemeier, Henning, Tremoli, E, van der Harst, P, Vestergaard, H, Vollenweider, P, Wareham, NJ, Weir, DR, Whitfield, JB, Wilson, JF, Tyrrell, J, Frayling, TM, Barroso, I, Boehnke, M, Deloukas, P, Fox, CS, Hirschhorn, JN, Hunter, DJ, Spector, TD, Strachan, DP, Duijn, Cornelia, Heid, IM, Mohlke, KL, Marchini, J, Loos, RJF, Kilpelainen, TO, Liu, CT, Borecki, IB, North, KE, and Cupples, LA

Published
2017

36. Evidence for large-scale gene-by-smoking interaction effects on pulmonary function

Author

Aschard, H, Tobin, MD, Hancock, DB, Skurnik, D, Sood, A, James, A, Smith, AV, Manichaikul, A, Campbell, A (Archie), Prins, BP, Hayward, C, Loth, Daan, Porteous, DJ, Strachan, DP, Zeggini, E, O'Connor, GT, Brusselle, Guy, Boezen, HM, Schulz, H, Deary, IJ, Hall, IP, Rudan, I, Kaprio, J, Wilson, JF, Wilk, JB, Huffman, JE, Zhao, JH, de Jong, K, Lyytikainen, LP, Wain, LV, Jarvelin, MR, Kahonen, M, Fornage, M, Polasek, O, Cassano, PA, Barr, RG, Rawal, R, Harris, SE, Gharib, SA, Enroth, S, Heckbert, SR, Lehtimaki, T, Gyllensten, U, Jackson, VE, Gudnason, V, Tang, WB, Dupuis, J, Artigas, MS, Joshi, AD, London, SJ, Kraft, P, Aschard, H, Tobin, MD, Hancock, DB, Skurnik, D, Sood, A, James, A, Smith, AV, Manichaikul, A, Campbell, A (Archie), Prins, BP, Hayward, C, Loth, Daan, Porteous, DJ, Strachan, DP, Zeggini, E, O'Connor, GT, Brusselle, Guy, Boezen, HM, Schulz, H, Deary, IJ, Hall, IP, Rudan, I, Kaprio, J, Wilson, JF, Wilk, JB, Huffman, JE, Zhao, JH, de Jong, K, Lyytikainen, LP, Wain, LV, Jarvelin, MR, Kahonen, M, Fornage, M, Polasek, O, Cassano, PA, Barr, RG, Rawal, R, Harris, SE, Gharib, SA, Enroth, S, Heckbert, SR, Lehtimaki, T, Gyllensten, U, Jackson, VE, Gudnason, V, Tang, WB, Dupuis, J, Artigas, MS, Joshi, AD, London, SJ, and Kraft, P

Published
2017

37. Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

Author

Graff, M., Scott, R.A., Justice, A.E., Young, K.L., Feitosa, M.F., Barata, L., Winkler, T.W., Chu, A.Y., Mahajan, A., Hadley, D., Xue, L., Workalemahu, T., Heard-Costa, N.L., den Hoed, M., Ahluwalia, T.S., Qi, Q., Ngwa, J.S., Renström, F., Quaye, L., Eicher, J.D., Hayes, J.E., Cornelis, M., Kutalik, Z., Lim, E., Luan, J., Huffman, J.E., Zhang, W., Zhao, W., Griffin, P.J., Haller, T., Ahmad, S., Marques-Vidal, P.M., Bien, S., Yengo, L., Teumer, A., Smith, A.V., Kumari, M., Harder, M.N., Justesen, J.M., Kleber, M.E., Hollensted, M., Lohman, K., Rivera, N.V., Whitfield, J.B., Zhao, J.H., Stringham, H.M., Lyytikäinen, L.P., Huppertz, C., Willemsen, G., Peyrot, W.J., Wu, Y., Kristiansson, K., Demirkan, A., Fornage, M., Hassinen, M., Bielak, L.F., Cadby, G., Tanaka, T., Mägi, R., van der Most, P.J., Jackson, A.U., Bragg-Gresham, J.L., Vitart, V., Marten, J., Navarro, P., Bellis, C., Pasko, D., Johansson, Å., Snitker, S., Cheng, Y.C., Eriksson, J., Lim, U., Aadahl, M., Adair, L.S., Amin, N., Balkau, B., Auvinen, J., Beilby, J., Bergman, R.N., Bergmann, S., Bertoni, A.G., Blangero, J., Bonnefond, A., Bonnycastle, L.L., Borja, J.B., Brage, S., Busonero, F., Buyske, S., Campbell, H., Chines, P.S., Collins, F.S., Corre, T., Smith, G.D., Delgado, G.E., Dueker, N., Dörr, M., Ebeling, T., Eiriksdottir, G., Esko, T., Faul, J.D., Fu, M., Færch, K., Gieger, C., Gläser, S., Gong, J., Gordon-Larsen, P., Grallert, H., Grammer, T.B., Grarup, N., van Grootheest, G., Harald, K., Hastie, N.D., Havulinna, A.S., Hernandez, D., Hindorff, L., Hocking, L.J., Holmens, O.L., Holzapfel, C., Hottenga, J.J., Huang, J., Huang, T., Hui, J., Huth, C., Hutri-Kähönen, N., James, A.L., Jansson, J.O., Jhun, M.A., Juonala, M., Kinnunen, L., Koistinen, H.A., Kolcic, I., Komulainen, P., Kuusisto, J., Kvaløy, K., Kähönen, M., Lakka, T.A., Launer, L.J., Lehne, B., Lindgren, C.M., Lorentzon, M., Luben, R., Marre, M., Milaneschi, Y., Monda, K.L., Montgomery, G.W., De Moor, MHM, Mulas, A., Müller-Nurasyid, M., Musk, A.W., Männikkö, R., Männistö, S., Narisu, N., Nauck, M., Nettleton, J.A., Nolte, I.M., Oldehinkel, A.J., Olden, M., Ong, K.K., Padmanabhan, S., Paternoster, L., Perez, J., Perola, M., Peters, A., Peters, U., Peyser, P.A., Prokopenko, I., Puolijoki, H., Raitakari, O.T., Rankinen, T., Rasmussen-Torvik, L.J., Rawal, R., Ridker, P.M., Rose, L.M., Rudan, I., Sarti, C., Sarzynski, M.A., Savonen, K., Scott, W.R., Sanna, S., Shuldiner, A.R., Sidney, S., Silbernagel, G., Smith, B.H., Smith, J.A., Snieder, H., Stančáková, A., Sternfeld, B., Swift, A.J., Tammelin, T., Tan, S.T., Thorand, B., Thuillier, D., Vandenput, L., Vestergaard, H., van Vliet-Ostaptchouk, J.V., Vohl, M.C., Völker, U., Waeber, G., Walker, M., Wild, S., Wong, A., Wright, A.F., Zillikens, M.C., Zubair, N., Haiman, C.A., Lemarchand, L., Gyllensten, U., Ohlsson, C., Hofman, A., Rivadeneira, F., Uitterlinden, A.G., Pérusse, L., Wilson, J.F., Hayward, C., Polasek, O., Cucca, F., Hveem, K., Hartman, C.A., Tönjes, A., Bandinelli, S., Palmer, L.J., Kardia, SLR, Rauramaa, R., Sørensen, TIA, Tuomilehto, J., Salomaa, V., Penninx, BWJH, de Geus, EJC, Boomsma, D.I., Lehtimäki, T., Mangino, M., Laakso, M., Bouchard, C., Martin, N.G., Kuh, D., Liu, Y., Linneberg, A., März, W., Strauch, K., Kivimäki, M., Harris, T.B., Gudnason, V., Völzke, H., Qi, L., Järvelin, M.R., Chambers, J.C., Kooner, J.S., Froguel, P., Kooperberg, C., Vollenweider, P., Hallmans, G., Hansen, T., Pedersen, O., Metspalu, A., Wareham, N.J., Langenberg, C., Weir, D.R., Porteous, D.J., Boerwinkle, E., Chasman, D.I., CHARGE, Consortium, EPIC-InterAct, Consortium, PAGE, Consortium, Abecasis, G.R., Barroso, I., McCarthy, M.I., Frayling, T.M., O'Connell, J.R., van Duijn, C.M., Boehnke, M., Heid, I.M., Mohlke, K.L., Strachan, D.P., Fox, C.S., Liu, C.T., Hirschhorn, J.N., Klein, R.J., Johnson, A.D., Borecki, I.B., Franks, P.W., North, K.E., Cupples, L.A., Loos, RJF, Kilpeläinen, T.O., Graff, M., Scott, R.A., Justice, A.E., Young, K.L., Feitosa, M.F., Barata, L., Winkler, T.W., Chu, A.Y., Mahajan, A., Hadley, D., Xue, L., Workalemahu, T., Heard-Costa, N.L., den Hoed, M., Ahluwalia, T.S., Qi, Q., Ngwa, J.S., Renström, F., Quaye, L., Eicher, J.D., Hayes, J.E., Cornelis, M., Kutalik, Z., Lim, E., Luan, J., Huffman, J.E., Zhang, W., Zhao, W., Griffin, P.J., Haller, T., Ahmad, S., Marques-Vidal, P.M., Bien, S., Yengo, L., Teumer, A., Smith, A.V., Kumari, M., Harder, M.N., Justesen, J.M., Kleber, M.E., Hollensted, M., Lohman, K., Rivera, N.V., Whitfield, J.B., Zhao, J.H., Stringham, H.M., Lyytikäinen, L.P., Huppertz, C., Willemsen, G., Peyrot, W.J., Wu, Y., Kristiansson, K., Demirkan, A., Fornage, M., Hassinen, M., Bielak, L.F., Cadby, G., Tanaka, T., Mägi, R., van der Most, P.J., Jackson, A.U., Bragg-Gresham, J.L., Vitart, V., Marten, J., Navarro, P., Bellis, C., Pasko, D., Johansson, Å., Snitker, S., Cheng, Y.C., Eriksson, J., Lim, U., Aadahl, M., Adair, L.S., Amin, N., Balkau, B., Auvinen, J., Beilby, J., Bergman, R.N., Bergmann, S., Bertoni, A.G., Blangero, J., Bonnefond, A., Bonnycastle, L.L., Borja, J.B., Brage, S., Busonero, F., Buyske, S., Campbell, H., Chines, P.S., Collins, F.S., Corre, T., Smith, G.D., Delgado, G.E., Dueker, N., Dörr, M., Ebeling, T., Eiriksdottir, G., Esko, T., Faul, J.D., Fu, M., Færch, K., Gieger, C., Gläser, S., Gong, J., Gordon-Larsen, P., Grallert, H., Grammer, T.B., Grarup, N., van Grootheest, G., Harald, K., Hastie, N.D., Havulinna, A.S., Hernandez, D., Hindorff, L., Hocking, L.J., Holmens, O.L., Holzapfel, C., Hottenga, J.J., Huang, J., Huang, T., Hui, J., Huth, C., Hutri-Kähönen, N., James, A.L., Jansson, J.O., Jhun, M.A., Juonala, M., Kinnunen, L., Koistinen, H.A., Kolcic, I., Komulainen, P., Kuusisto, J., Kvaløy, K., Kähönen, M., Lakka, T.A., Launer, L.J., Lehne, B., Lindgren, C.M., Lorentzon, M., Luben, R., Marre, M., Milaneschi, Y., Monda, K.L., Montgomery, G.W., De Moor, MHM, Mulas, A., Müller-Nurasyid, M., Musk, A.W., Männikkö, R., Männistö, S., Narisu, N., Nauck, M., Nettleton, J.A., Nolte, I.M., Oldehinkel, A.J., Olden, M., Ong, K.K., Padmanabhan, S., Paternoster, L., Perez, J., Perola, M., Peters, A., Peters, U., Peyser, P.A., Prokopenko, I., Puolijoki, H., Raitakari, O.T., Rankinen, T., Rasmussen-Torvik, L.J., Rawal, R., Ridker, P.M., Rose, L.M., Rudan, I., Sarti, C., Sarzynski, M.A., Savonen, K., Scott, W.R., Sanna, S., Shuldiner, A.R., Sidney, S., Silbernagel, G., Smith, B.H., Smith, J.A., Snieder, H., Stančáková, A., Sternfeld, B., Swift, A.J., Tammelin, T., Tan, S.T., Thorand, B., Thuillier, D., Vandenput, L., Vestergaard, H., van Vliet-Ostaptchouk, J.V., Vohl, M.C., Völker, U., Waeber, G., Walker, M., Wild, S., Wong, A., Wright, A.F., Zillikens, M.C., Zubair, N., Haiman, C.A., Lemarchand, L., Gyllensten, U., Ohlsson, C., Hofman, A., Rivadeneira, F., Uitterlinden, A.G., Pérusse, L., Wilson, J.F., Hayward, C., Polasek, O., Cucca, F., Hveem, K., Hartman, C.A., Tönjes, A., Bandinelli, S., Palmer, L.J., Kardia, SLR, Rauramaa, R., Sørensen, TIA, Tuomilehto, J., Salomaa, V., Penninx, BWJH, de Geus, EJC, Boomsma, D.I., Lehtimäki, T., Mangino, M., Laakso, M., Bouchard, C., Martin, N.G., Kuh, D., Liu, Y., Linneberg, A., März, W., Strauch, K., Kivimäki, M., Harris, T.B., Gudnason, V., Völzke, H., Qi, L., Järvelin, M.R., Chambers, J.C., Kooner, J.S., Froguel, P., Kooperberg, C., Vollenweider, P., Hallmans, G., Hansen, T., Pedersen, O., Metspalu, A., Wareham, N.J., Langenberg, C., Weir, D.R., Porteous, D.J., Boerwinkle, E., Chasman, D.I., CHARGE, Consortium, EPIC-InterAct, Consortium, PAGE, Consortium, Abecasis, G.R., Barroso, I., McCarthy, M.I., Frayling, T.M., O'Connell, J.R., van Duijn, C.M., Boehnke, M., Heid, I.M., Mohlke, K.L., Strachan, D.P., Fox, C.S., Liu, C.T., Hirschhorn, J.N., Klein, R.J., Johnson, A.D., Borecki, I.B., Franks, P.W., North, K.E., Cupples, L.A., Loos, RJF, and Kilpeläinen, T.O.

Abstract

[This corrects the article DOI: 10.1371/journal.pgen.1006528.].

Published
2017

38. Cardiac Resuscitation

Author

Aminoff, M., Asghar, M., Beeston, S. L., Bhoola, K. D., Child, J. A., Cunningham, K. C., Garnham, J. R., Jones, J. G. Raymond, Kasenally, A. F., Kitchener, P. A., Littlejohn, D. W., Lotfi, D., MacDonald, R. L., Madden, F. J. F., Moussalli, S. A., Myles, B., Newton, D. J., Pickering, T. G., Price, T., Rawal, R. S., Davies, N. Rhys, Ryan, M. D., Schlicht, J., Tattersfield, A. E., Tomkins, A., and Triscott, A.

Published
1967

40. The Role of Air Motion for Providing Thermal Comfort in Residential / Mixed Mode Buildings: a Multi-partner Global Innovation Initiative (GII) Project

Author

Loveday, D L, Webb, Lynda, Verma, P., Cook, M J, Rawal, R., Vadodaria, K, Cropper, P, Brager, G, Zhang, H, Foldvary, V, Arens, E, Babich, F, Cobb, R, Ariffin, R, Kaam, S, and Toledo, L

Abstract

As the climate changes, global use of air-conditioning will proliferate as solutions are sought for maintaining thermal comfort in buildings. This rises alongside increased purchasing power as economies grow, harbouring the potential to unleash an unprecedented growth in energy demand. Encouraging higher levels of air movement at warmer temperatures to maintain thermal comfort may offset the risk of increased air-conditioning use. Whilst laboratory studies have quantified air motion effects on the human body, it remains unclear as to how best to incorporate higher air motion in design and operation of residential / mixed mode buildings to offset air-conditioning use. The project reported is developing a better understanding of thermal comfort in residential / mixed mode buildings and is identifying the potential for higher air movement conditions, sensations and air motion practices have been concluded. The date generated will contribute to a worldwide database, and will inform validation of a coupled thermal comfort / airflow model for designing comfortable, energy-efficient indoor environments that exploit higher air motion. This paper describes the overall project, and presents preliminary findings from the British residential field survey.

Published
2016

42. Subcutaneous nodules preceding convulsions due to neural cysticercosis

Author

Singrodia, Sanjay, Joshi, R., Solanki, R., and Rawal, R.

Subjects
Cysticercosis -- Risk factors, Cysticercosis -- Diagnosis, Cysticercosis -- Care and treatment, Cysticercosis -- Patient outcomes, Cysticercosis -- Case studies, CT imaging -- Usage, CT imaging -- Health aspects, Prednisolone -- Dosage and administration
Abstract

Byline: Sanjay. Singrodia, R. Joshi, R. Solanki, R. Rawal Sir, Cysticercosis is the most common parasitic infestation of the central nervous system, muscle and subcutaneous tissue,[sup] [1] caused by tissue-invading [...]

Published
2008

43. Genome-wide meta-analyses of plasma renin activity and concentration reveal association with the Kininogen 1 and Prekallikrein genes

Author

Lieb, W., Chen, M.H., Teumer, A., de Boer, R.A., Lin, H., Fox, E.R., Musani, S.K., Wilson, J.G., Wang, T.J., Völzke, H., Petersen, A.K., Meisinger, C., Nauck, M., Schlesinger, S., Li, Y., Ménard, J., Hercberg, S., Wichmann, H.-E., Völker, U., Rawal, R., Bidlingmaier, M., Hannemann, A., Dörr, M., Rettig, R., van Gilst, W.H., van Veldhuisen, D.J., Bakker, S.J., Navis, G., Wallaschofski, H., Meneton, P., van der Harst, P., Reincke, M., Vasan, R.S., CKDGen Consortium (), ICBP Consortium (), EchoGen Consortium (), Cardiovascular Centre (CVC), Groningen Institute for Organ Transplantation (GIOT), Lifestyle Medicine (LM), Groningen Kidney Center (GKC), Vascular Ageing Programme (VAP), Value, Affordability and Sustainability (VALUE), Christian-Albrechts University of Kiel, National Institutes of Health [Bethesda] (NIH), King‘s College London, Boston University School of Medicine (BUSM), Boston University [Boston] (BU), University of Mississippi Medical Center (UMMC), Solvay Engineering Plastics, Institute for Community Medicine, Universität Greifswald - University of Greifswald, Klinikum der Universität [München], Institute of Clinical Chemistry and Laboratory Medicine, Heinrich Heine Universität Düsseldorf = Heinrich Heine University [Düsseldorf], Chengdu University of Technology (CDUT), CIC - HEGP (CIC 1418), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Helmholtz Zentrum München = German Research Center for Environmental Health, Ludwig-Maximilians-Universität München (LMU), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Interfaculty Institute for Genetics and Functional Genomics, Laboratoire d'Informatique Médicale et Ingénierie des Connaissances en e-Santé (LIMICS), and Université Paris 13 (UP13)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Kininogen 1, medicine.medical_specialty, Genome Wide Association Study, Aldosterone, Renin Angiotensin System, Population, CONVERTING ENZYME, Genome-wide association study, renin-angiotensin system, BLOOD-PRESSURE, Biology, Polymorphism, Single Nucleotide, Plasma renin activity, Article, [INFO.INFO-CL]Computer Science [cs]/Computation and Language [cs.CL], DISEASE, ANGIOTENSIN-ALDOSTERONE SYSTEM, chemistry.chemical_compound, Quantitative Trait, Heritable, Internal medicine, Renin, Renin–angiotensin system, Genetics, medicine, Humans, education, Genetics (clinical), POPULATION, METABOLIC SYNDROME, education.field_of_study, aldosterone, genome-wide association study, HYPERTENSION, Kininogens, Prekallikrein, GS-ALPHA, CARDIAC STRUCTURE, Endocrinology, Blood pressure, chemistry, Cardiovascular Diseases, HEART, Kidney Diseases, Cardiology and Cardiovascular Medicine
Abstract

Background— The renin–angiotensin–aldosterone system (RAAS) is critical for regulation of blood pressure and fluid balance and influences cardiovascular remodeling. Dysregulation of the RAAS contributes to cardiovascular and renal morbidity. The genetic architecture of circulating RAAS components is incompletely understood. Methods and Results— We meta-analyzed genome-wide association data for plasma renin activity (n=5275), plasma renin concentrations (n=8014), and circulating aldosterone (n=13289) from ≤4 population-based cohorts of European and European-American ancestry, and assessed replication of the top results in an independent sample (n=6487). Single-nucleotide polymorphisms (SNPs) in 2 independent loci displayed associations with plasma renin activity at genome-wide significance ( P −8 ). A third locus was close to this threshold (rs4253311 in kallikrein B [KLKB1], P =5.5×10 −8 ). Two of these loci replicated in an independent sample for both plasma renin and aldosterone concentrations (SNP rs5030062 in kininogen 1 [KNG1]: P =0.001 for plasma renin, P =0.024 for plasma aldosterone concentration; and rs4253311 with P NEBL gene reached genome-wide significance for plasma renin concentration in the discovery sample (top SNP rs3915911; P =8.81×10 −9 ), but did not replicate ( P =0.81). No locus reached genome-wide significance for aldosterone. SNPs rs5030062 and rs4253311 were not related to blood pressure or renal traits; in a companion study, variants in the kallikrein B locus were associated with B-type natriuretic peptide concentrations in blacks. Conclusions— We identified 2 genetic loci ( kininogen 1 and kallikrein B ) influencing key components of the RAAS, consistent with the close interrelation between the kallikrein–kinin system and the RAAS.

Published
2015

44. A Statistical Model for Ascertaining the Influence and Reliability of Weather Parameters on Incidence of Blossom Blight in Mango (Mangifera indica L.)

Author

Venugopalan, R, Rawal, R D, and Saxen, A K

Subjects
mango, model, blossom blight, Plant culture, coefficient of determination, Original Research Papers, climatic factors, SB1-1110
Abstract

A statistical model was developed to study the influence and reliability of weatlier parameters on incidence of blossom blight in Mango (Mangifera indica) and subsequently to predict their incidence. Results showed that preceding week's weather variables viz., maximum and minimum temperature, evaporation, rainfall, morning and evening relative humidity and wind speed were found to collectively predict blossom blight incidence to the extent of 94.3 per cent. Further, as a measure of goodness-of-fit, the coefficient of determination (R2) and mean squared error were used to evaluate the empirical model developed by using above variables. Validation test showed that the model developed using relative humidity at 07.30 h (X3), evaporation (X5) and wind speed (X6) (Y = 883.4 - 8.065 X3-11.506 X5 -33.619 X6) could predict the incidence to the extent of 75.7%. This model is useful in determining the role of climatic factors in disease appearance and progression and devising suitable management strategy.

Published
2006

45. Field studies of thermal comfort across multiple climate zones for the subcontinent: India Model for Adaptive Comfort (IMAC)

Author

Manu, S, Shukla, Y, Rawal, R, Thomas, LE, de Dear, R, Manu, S, Shukla, Y, Rawal, R, Thomas, LE, and de Dear, R

Abstract

© 2015 The Authors. India is witnessing unprecedented growth trends in building construction, particularly office spaces. Indian offices are designed to operate at 22.5 ± 1 °C all year round to meet the stringent "Class A" specifications outlined by international standards in the absence of an India-specific comfort standard. This paper proposes an India Model for Adaptive Comfort - IMAC - based on the field surveys administered in 16 buildings in three seasons and five cities, representative of five Indian climate zones. A total of 6330 responses were gathered from naturally ventilated, mixed mode and air-conditioned office buildings using instantaneous thermal comfort surveys.Occupants in naturally ventilated Indian offices were found to be more adaptive than the prevailing ASHRAE and EN models would suggest. According to the IMAC model, neutral temperature in naturally ventilated buildings varies from 19.6 to 28.5 °C for 30-day outdoor running mean air temperatures ranging from 12.5 to 31 °C. This is the first instance where a study proposes a single adaptive model for mixed mode buildings asserting its validity for both naturally ventilated and air-conditioned modes of operation in the building, with neutral temperature varying from 21.5 to 28.7 °C for 13-38.5 °C range of outdoor temperatures. For air-conditioned buildings, Fanger's static PMV model was found to consistently over-predict the sensation on the warmer side of the 7-point sensation scale.

Published
2016

47. Developing an India Model for Adaptive (Thermal) Comfort: IMAC 2014

Author

Sanyogita, M, Yash, S, Rawal, R, deDear, R, and Thomas, L

Abstract

This report documents the research findings of a project that aimed at developing an adaptive thermal comfort model for India. The India Model for Adaptive (thermal) Comfort (IMAC 2014, as it is referred to henceforth) is developed from the data collected over four survey campaigns in office buildings conducted over a period of one year, This document must be cited as follows: Manu, S., Shukla, Y., Rawal, R., de Dear, R., & Thomas, L. E. (2014). Developing an India Model for Adaptive (Thermal) Comfort: IMAC 2014. Ahmedabad, India: Centre for Advanced Research in Building Science and Energy (CARBSE), CEPT University. Submitted to the Ministry of New and Renewable Energy, Govt. of India and Shakti Sustainable Energy Foundation

Published
2014

48. Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption

Author

Cornelis, M.C., Byrne, E.M., Esko, T., Nalls, M.A., Ganna, A., Paynter, N., Monda, K.L., Amin, N., Fischer, K., Renstrom, F., Ngwa, J.S., Huikari, V., Cavadino, A., Nolte, I.M., Teumer, A., Yu, K., Marques-Vidal, P., Rawal, R., Manichaikul, A., Wojczynski, M.K., Vink, J.M., Zhao, J.H., Burlutsky, G., Lahti, J., Mikkila, V., Lemaitre, R.N., Eriksson, J., Musani, S.K., Tanaka, T., Geller, F., Luan, J., Hui, J., Magi, R., Dimitriou, M., Garcia, M.E., Ho, W.K., Wright, M.J., Rose, L.M., Magnusson, P.K.E., Pedersen, N.L., Couper, D., Oostra, B.A., Hofman, A., Ikram, M.A., Tiemeier, H.W., Uitterlinden, A.G., Rooij, F.J. van, Barroso, I., Johansson, I., Xue, L., Kaakinen, M., Milani, L., Power, C., Snieder, H., Stolk, R.P., Baumeister, S.E., Biffar, R., Gu, F., Bastardot, F., Kutalik, Z., Jacobs, D.R., Jr., Forouhi, N.G., Mihailov, E., Lind, L., Lindgren, C., Michaelsson, K., Morris, A., Jensen, M., Khaw, K.T., Luben, R.N., Wang, J.J., Mannisto, S., Perala, M.M., Kahonen, M., Lehtimaki, T., Viikari, J., Mozaffarian, D., Mukamal, K., Psaty, B.M., Doring, A., Heath, A.C., Montgomery, G.W., Dahmen, N., Carithers, T., Tucker, K.L., Ferrucci, L., Boyd, H.A., Melbye, M., Treur, J.L., Mellstrom, D., Hottenga, J.J., Prokopenko, I., Tonjes, A., Deloukas, P., Kanoni, S., Lorentzon, M., Houston, D.K., Liu, Y., Danesh, J., Rasheed, A., Mason, M.A., Zonderman, A.B., Franke, L., Kristal, B.S., Karjalainen, J., Reed, D.R., Westra, H.J., Evans, M.K., Saleheen, D., Harris, T.B., Dedoussis, G., Curhan, G.C., Stumvoll, M., Beilby, J., Pasquale, L.R., Feenstra, B., Bandinelli, S., Ordovas, J.M., Chan, A.T., Peters, U., Ohlsson, C., Gieger, C., Martin, N.G., Waldenberger, M., Siscovick, D.S., Raitakari, O., Eriksson, J.G., Mitchell, P., Hunter, D.J., Kraft, P., Rimm, E.B., Boomsma, D.I., Borecki, I.B., Loos, R.J.F., Wareham, N.J., Vollenweider, P., Caporaso, N., Grabe, H.J., Neuhouser, M.L., Wolffenbuttel, B.H.R., Hu, F.B., Hypponen, E., Jarvelin, M.R., Cupples, L.A., Franks, P.W., Ridker, P.M., Duijn, C.M. van, Heiss, G., Metspalu, A., North, K.E., Ingelsson, E., Nettleton, J.A., Dam, R.M. van, Chasman, D.I., Cornelis, M.C., Byrne, E.M., Esko, T., Nalls, M.A., Ganna, A., Paynter, N., Monda, K.L., Amin, N., Fischer, K., Renstrom, F., Ngwa, J.S., Huikari, V., Cavadino, A., Nolte, I.M., Teumer, A., Yu, K., Marques-Vidal, P., Rawal, R., Manichaikul, A., Wojczynski, M.K., Vink, J.M., Zhao, J.H., Burlutsky, G., Lahti, J., Mikkila, V., Lemaitre, R.N., Eriksson, J., Musani, S.K., Tanaka, T., Geller, F., Luan, J., Hui, J., Magi, R., Dimitriou, M., Garcia, M.E., Ho, W.K., Wright, M.J., Rose, L.M., Magnusson, P.K.E., Pedersen, N.L., Couper, D., Oostra, B.A., Hofman, A., Ikram, M.A., Tiemeier, H.W., Uitterlinden, A.G., Rooij, F.J. van, Barroso, I., Johansson, I., Xue, L., Kaakinen, M., Milani, L., Power, C., Snieder, H., Stolk, R.P., Baumeister, S.E., Biffar, R., Gu, F., Bastardot, F., Kutalik, Z., Jacobs, D.R., Jr., Forouhi, N.G., Mihailov, E., Lind, L., Lindgren, C., Michaelsson, K., Morris, A., Jensen, M., Khaw, K.T., Luben, R.N., Wang, J.J., Mannisto, S., Perala, M.M., Kahonen, M., Lehtimaki, T., Viikari, J., Mozaffarian, D., Mukamal, K., Psaty, B.M., Doring, A., Heath, A.C., Montgomery, G.W., Dahmen, N., Carithers, T., Tucker, K.L., Ferrucci, L., Boyd, H.A., Melbye, M., Treur, J.L., Mellstrom, D., Hottenga, J.J., Prokopenko, I., Tonjes, A., Deloukas, P., Kanoni, S., Lorentzon, M., Houston, D.K., Liu, Y., Danesh, J., Rasheed, A., Mason, M.A., Zonderman, A.B., Franke, L., Kristal, B.S., Karjalainen, J., Reed, D.R., Westra, H.J., Evans, M.K., Saleheen, D., Harris, T.B., Dedoussis, G., Curhan, G.C., Stumvoll, M., Beilby, J., Pasquale, L.R., Feenstra, B., Bandinelli, S., Ordovas, J.M., Chan, A.T., Peters, U., Ohlsson, C., Gieger, C., Martin, N.G., Waldenberger, M., Siscovick, D.S., Raitakari, O., Eriksson, J.G., Mitchell, P., Hunter, D.J., Kraft, P., Rimm, E.B., Boomsma, D.I., Borecki, I.B., Loos, R.J.F., Wareham, N.J., Vollenweider, P., Caporaso, N., Grabe, H.J., Neuhouser, M.L., Wolffenbuttel, B.H.R., Hu, F.B., Hypponen, E., Jarvelin, M.R., Cupples, L.A., Franks, P.W., Ridker, P.M., Duijn, C.M. van, Heiss, G., Metspalu, A., North, K.E., Ingelsson, E., Nettleton, J.A., Dam, R.M. van, and Chasman, D.I.

Abstract

Item does not contain fulltext, Coffee, a major dietary source of caffeine, is among the most widely consumed beverages in the world and has received considerable attention regarding health risks and benefits. We conducted a genome-wide (GW) meta-analysis of predominately regular-type coffee consumption (cups per day) among up to 91,462 coffee consumers of European ancestry with top single-nucleotide polymorphisms (SNPs) followed-up in ~30 062 and 7964 coffee consumers of European and African-American ancestry, respectively. Studies from both stages were combined in a trans-ethnic meta-analysis. Confirmed loci were examined for putative functional and biological relevance. Eight loci, including six novel loci, met GW significance (log10Bayes factor (BF)>5.64) with per-allele effect sizes of 0.03-0.14 cups per day. Six are located in or near genes potentially involved in pharmacokinetics (ABCG2, AHR, POR and CYP1A2) and pharmacodynamics (BDNF and SLC6A4) of caffeine. Two map to GCKR and MLXIPL genes related to metabolic traits but lacking known roles in coffee consumption. Enhancer and promoter histone marks populate the regions of many confirmed loci and several potential regulatory SNPs are highly correlated with the lead SNP of each. SNP alleles near GCKR, MLXIPL, BDNF and CYP1A2 that were associated with higher coffee consumption have previously been associated with smoking initiation, higher adiposity and fasting insulin and glucose but lower blood pressure and favorable lipid, inflammatory and liver enzyme profiles (P<5 x 10(-8)).Our genetic findings among European and African-American adults reinforce the role of caffeine in mediating habitual coffee consumption and may point to molecular mechanisms underlying inter-individual variability in pharmacological and health effects of coffee.

Published
2015

49. Molecular mechanisms underlying variations in lung function: A systems genetics analysis

Author

Obeidat, M. (Ma'en), Hao, K. (Ke), Bossé, Y. (Yohan), Nickle, D.C. (David), Nie, Y. (Yunlong), Postma, D.S. (Dirkje), Laviolette, M. (Michel), Sandford, A. (Andrew), Daley, D. (Denise), Hogg, J.C. (James), Elliott, W.M., Fishbane, N. (Nick), Timens, W. (Wim), Hysi, P.G. (Pirro), Kaprio, J. (Jaakko), Wilson, J.F. (James F), Hui, J. (Jennie), Rawal, R. (Rajesh), Schulz, H. (Holger), Stubbe, B. (Beate), Hayward, C. (Caroline), Polasek, O. (Ozren), Jarvelin, M.-R. (Marjo-Riitta), Zhao, J.H. (Jing Hua), Jarvis, D.L. (Deborah L.), Kähönen, M. (Mika), Franceschini, N. (Nora), North, K.E. (Kari), Loth, D.W. (Daan), Brusselle, G.G. (Guy), Smith, A.V. (Davey), Gudnason, V. (Vilmundur), Bartz, T.M. (Traci M.), Wilk, J.B. (Jemma), O'Connor, G.T. (George), Cassano, P.A. (Patricia), Tang, W. (Wenbo), Wain, L.V. (Louise), Artigas, M.S., Gharib, S.A. (Sina), Strachan, D.P. (David P.), Sin, D.D., Tobin, M.D. (Martin), London, S.J. (Stephanie J.), Hall, I.P. (Ian), Paré, P.D. (Peter), Obeidat, M. (Ma'en), Hao, K. (Ke), Bossé, Y. (Yohan), Nickle, D.C. (David), Nie, Y. (Yunlong), Postma, D.S. (Dirkje), Laviolette, M. (Michel), Sandford, A. (Andrew), Daley, D. (Denise), Hogg, J.C. (James), Elliott, W.M., Fishbane, N. (Nick), Timens, W. (Wim), Hysi, P.G. (Pirro), Kaprio, J. (Jaakko), Wilson, J.F. (James F), Hui, J. (Jennie), Rawal, R. (Rajesh), Schulz, H. (Holger), Stubbe, B. (Beate), Hayward, C. (Caroline), Polasek, O. (Ozren), Jarvelin, M.-R. (Marjo-Riitta), Zhao, J.H. (Jing Hua), Jarvis, D.L. (Deborah L.), Kähönen, M. (Mika), Franceschini, N. (Nora), North, K.E. (Kari), Loth, D.W. (Daan), Brusselle, G.G. (Guy), Smith, A.V. (Davey), Gudnason, V. (Vilmundur), Bartz, T.M. (Traci M.), Wilk, J.B. (Jemma), O'Connor, G.T. (George), Cassano, P.A. (Patricia), Tang, W. (Wenbo), Wain, L.V. (Louise), Artigas, M.S., Gharib, S.A. (Sina), Strachan, D.P. (David P.), Sin, D.D., Tobin, M.D. (Martin), London, S.J. (Stephanie J.), Hall, I.P. (Ian), and Paré, P.D. (Peter)

Abstract

Background: Lung function measures reflect the physiological state of the lung, and are essential to the diagnosis of chronic obstructive pulmonary disease (COPD). The SpiroMeta-CHARGE consortium undertook the largest genome-wide association study (GWAS) so far (n=48 201) for forced expiratory volume in 1 s (FEV1) and the ratio of FEV1 to forced vital capacity (FEV1/FVC) in

Published
2015
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50. Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption

Author

The, Coffee, Cornelis, M.C., Byrne, E.M., Esko, T., Nalls, M.A., Ganna, A., Paynter, N., Monda, K.L., Amin, N., Fischer, K., Renstrom, F., Ngwa, J.S., Huikari, V., Cavadino, A., Nolte, I.M., Teumer, A., Yu, K., Marques-Vidal, P., Rawal, R., Manichaikul, A., Wojczynski, M.K., Vink, J.M., Zhao, J.H., Burlutsky, G., Lahti, J., Mikkilä, V., Lemaitre, R.N., Eriksson, J., Musani, S.K., Tanaka, T., Geller, F., Luan, J., Hui, J., Mägi, R., Dimitriou, M., Garcia, M.E., Ho, W.K., Wright, M.J., Rose, L.M., Magnusson, P.K., Pedersen, N.L., Couper, D., Oostra, B.A., Hofman, A., Ikram, M.A., Tiemeier, H.W., Uitterlinden, A.G., van Rooij, F.J., Barroso, I., Johansson, I., Xue, L., Kaakinen, M., Milani, L., Power, C., Snieder, H., Stolk, R.P., Baumeister, S.E., Biffar, R., Gu, F., Bastardot, F., Kutalik, Z., Jacobs, D.R., Forouhi, N.G., Mihailov, E., Lind, L., Lindgren, C., Michaëlsson, K., Morris, A., Jensen, M., Khaw, K.T., Luben, R.N., Wang, J.J., Männistö, S., Perälä, M.M., Kähönen, M., Lehtimäki, T., Viikari, J., Mozaffarian, D., Mukamal, K., Psaty, B.M., Döring, A., Heath, A.C., Montgomery, G.W., Dahmen, N., Carithers, T., Tucker, K.L., Ferrucci, L., Boyd, H.A., Melbye, M., Treur, J.L., Mellström, D., Hottenga, J.J., Prokopenko, I., Tönjes, A., Deloukas, P., Kanoni, S., Lorentzon, M., Houston, D.K., Liu, Y., Danesh, J., Rasheed, A., Mason, M.A., Zonderman, A.B., Franke, L., Kristal, B.S., Karjalainen, J., Reed, D.R., Westra, H.J., Evans, M.K., Saleheen, D., Harris, T.B., Dedoussis, G., Curhan, G., Stumvoll, M., Beilby, J., Pasquale, L.R., Feenstra, B., Bandinelli, S., Ordovas, J.M., Chan, A.T., Peters, U., Ohlsson, C., Gieger, C., Martin, N.G., Waldenberger, M., Siscovick, D.S., Raitakari, O., Eriksson, J.G., Mitchell, P., Hunter, D.J., Kraft, P., Rimm, E.B., Boomsma, D.I., Borecki, I.B., Loos, R.J., Wareham, N.J., Vollenweider, P., Caporaso, N., Grabe, H.J., Neuhouser, M.L., Wolffenbuttel, B.H., Hu, F.B., Hyppönen, E., Järvelin, M.R., Cupples, L.A., Franks, P.W., Ridker, P.M., van Duijn, C.M., Heiss, G., Metspalu, A., North, K.E., Ingelsson, E., Nettleton, J.A., van Dam, R.M., Chasman, D.I., The, Coffee, Cornelis, M.C., Byrne, E.M., Esko, T., Nalls, M.A., Ganna, A., Paynter, N., Monda, K.L., Amin, N., Fischer, K., Renstrom, F., Ngwa, J.S., Huikari, V., Cavadino, A., Nolte, I.M., Teumer, A., Yu, K., Marques-Vidal, P., Rawal, R., Manichaikul, A., Wojczynski, M.K., Vink, J.M., Zhao, J.H., Burlutsky, G., Lahti, J., Mikkilä, V., Lemaitre, R.N., Eriksson, J., Musani, S.K., Tanaka, T., Geller, F., Luan, J., Hui, J., Mägi, R., Dimitriou, M., Garcia, M.E., Ho, W.K., Wright, M.J., Rose, L.M., Magnusson, P.K., Pedersen, N.L., Couper, D., Oostra, B.A., Hofman, A., Ikram, M.A., Tiemeier, H.W., Uitterlinden, A.G., van Rooij, F.J., Barroso, I., Johansson, I., Xue, L., Kaakinen, M., Milani, L., Power, C., Snieder, H., Stolk, R.P., Baumeister, S.E., Biffar, R., Gu, F., Bastardot, F., Kutalik, Z., Jacobs, D.R., Forouhi, N.G., Mihailov, E., Lind, L., Lindgren, C., Michaëlsson, K., Morris, A., Jensen, M., Khaw, K.T., Luben, R.N., Wang, J.J., Männistö, S., Perälä, M.M., Kähönen, M., Lehtimäki, T., Viikari, J., Mozaffarian, D., Mukamal, K., Psaty, B.M., Döring, A., Heath, A.C., Montgomery, G.W., Dahmen, N., Carithers, T., Tucker, K.L., Ferrucci, L., Boyd, H.A., Melbye, M., Treur, J.L., Mellström, D., Hottenga, J.J., Prokopenko, I., Tönjes, A., Deloukas, P., Kanoni, S., Lorentzon, M., Houston, D.K., Liu, Y., Danesh, J., Rasheed, A., Mason, M.A., Zonderman, A.B., Franke, L., Kristal, B.S., Karjalainen, J., Reed, D.R., Westra, H.J., Evans, M.K., Saleheen, D., Harris, T.B., Dedoussis, G., Curhan, G., Stumvoll, M., Beilby, J., Pasquale, L.R., Feenstra, B., Bandinelli, S., Ordovas, J.M., Chan, A.T., Peters, U., Ohlsson, C., Gieger, C., Martin, N.G., Waldenberger, M., Siscovick, D.S., Raitakari, O., Eriksson, J.G., Mitchell, P., Hunter, D.J., Kraft, P., Rimm, E.B., Boomsma, D.I., Borecki, I.B., Loos, R.J., Wareham, N.J., Vollenweider, P., Caporaso, N., Grabe, H.J., Neuhouser, M.L., Wolffenbuttel, B.H., Hu, F.B., Hyppönen, E., Järvelin, M.R., Cupples, L.A., Franks, P.W., Ridker, P.M., van Duijn, C.M., Heiss, G., Metspalu, A., North, K.E., Ingelsson, E., Nettleton, J.A., van Dam, R.M., and Chasman, D.I.

Abstract

Coffee, a major dietary source of caffeine, is among the most widely consumed beverages in the world and has received considerable attention regarding health risks and benefits. We conducted a genome-wide (GW) meta-analysis of predominately regular-type coffee consumption (cups per day) among up to 91 462 coffee consumers of European ancestry with top single-nucleotide polymorphisms (SNPs) followed-up in ~30 062 and 7964 coffee consumers of European and African-American ancestry, respectively. Studies from both stages were combined in a trans-ethnic meta-analysis. Confirmed loci were examined for putative functional and biological relevance. Eight loci, including six novel loci, met GW significance (log10Bayes factor (BF)>5.64) with per-allele effect sizes of 0.03-0.14 cups per day. Six are located in or near genes potentially involved in pharmacokinetics (ABCG2, AHR, POR and CYP1A2) and pharmacodynamics (BDNF and SLC6A4) of caffeine. Two map to GCKR and MLXIPL genes related to metabolic traits but lacking known roles in coffee consumption. Enhancer and promoter histone marks populate the regions of many confirmed loci and several potential regulatory SNPs are highly correlated with the lead SNP of each. SNP alleles near GCKR, MLXIPL, BDNF and CYP1A2 that were associated with higher coffee consumption have previously been associated with smoking initiation, higher adiposity and fasting insulin and glucose but lower blood pressure and favorable lipid, inflammatory and liver enzyme profiles (P<5 × 10-8).Our genetic findings among European and African-American adults reinforce the role of caffeine in mediating habitual coffee consumption and may point to molecular mechanisms underlying inter-individual variability in pharmacological and health effects of coffee.

Published
2015

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