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289 results on '"Fiorito, G"'

1. Cephalopod-omics: emerging fields and technologies in cephalopod biology

Author: Baden, T., Briseño, J., Coffing, G., Cohen-Bodénès, S., Courtney, A., Dickerson, D., Dölen, G., Fiorito, G., Gestal, C., Gustafson, T., Heath-Heckman, E., Hua, Q., Imperadore, P., Kimbara, R., Król, M., Lajbner, Z., Lichilín, N., Macchi, F., McCoy, M.J., Nishiguchi, M.K., Nyholm, S.V., Otjacques, E., Pérez-Ferrer, P.A., Ponte, G., Pungor, J.R., Rogers, T.F., Rosenthal, J.J.C., Rouressol, L., Rubas, N., Sanchez, G., Santos, C.P., Schultz, D.T., Seuntjens, E., Songco-Casey, J.O., Stewart, I.E., Styfhals, R., Tuanapaya, S., Vijayan, N., Weissenbacher, A., Zifcakova, L., Schulz, G., Weertman, W., Simakov, O., and Albertin, C.
Subjects: Function and Dysfunction of the Nervous System
Abstract: Few animal groups can claim the level of wonder that cephalopods instill in the minds of researchers and the general public. Much of cephalopod biology, however, remains unexplored: the largest invertebrate brain, difficult husbandry conditions, complex (meta-)genomes, among many other things, have hindered progress in addressing key questions. However, recent technological advancements in sequencing, imaging, and genetic manipulation have opened new avenues for exploring the biology of these extraordinary animals. The cephalopod molecular biology community is thus experiencing a large influx of researchers, emerging from different fields, accelerating the pace of research in this clade. In the first post-pandemic event at the Cephalopod International Advisory Council (CIAC) conference in April 2022, over 40 participants from all over the world met and discussed key challenges and perspectives for current cephalopod molecular biology and evolution. Our particular focus was on the fields of comparative and regulatory genomics, gene manipulation, single cell transcriptomics, metagenomics and microbial interactions. This article is a result of this joint effort, summarizing the latest insights from these emerging fields, their bottlenecks and potential solutions. The article highlights the interdisciplinary nature of the cephalopod -omics community and provides an emphasis on continuous consolidation of efforts and collaboration in this rapidly evolving field.
Published: 2023

2. A novel estimate of biological aging by multiple fitness tests is associated with risk scores for age-related diseases

Author: Manca, A., primary, Fiorito, G., additional, Morrone, M., additional, Boi, A., additional, Mercante, B., additional, Martinez, G., additional, Ventura, L., additional, Delitala, A. P., additional, Cano, A., additional, Catte, M. G., additional, Solinas, G., additional, Melis, F., additional, Ginatempo, F., additional, and Deriu, F., additional
Published: 2023
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3. Preoperative Radiosurgery on Early Breast Cancer Patients: Analysis of Tumor Genetic Background and Tumor Immune Microenvironment

Author: Loi, M., Mangoni, M., Duatti, A., Caini, S., Fiorito, G., Salvatore, G., Anichini, G., Sottili, M., Visani, L., Francolini, G., Cataldo, V. Di, Becherini, C., Salvestrini, V., Bianchi, S., Stefano, G. Di, Greto, D., Simontacchi, G., Desideri, I., Meattini, I., and Livi, L.
Published: 2024
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4. An epigenome-wide association study meta-analysis of educational attainment

Author: Linnér, R Karlsson, Marioni, R E, Rietveld, C A, Simpkin, A J, Davies, N M, Watanabe, K, Armstrong, N J, Auro, K, Baumbach, C, Bonder, M J, Buchwald, J, Fiorito, G, Ismail, K, Iurato, S, Joensuu, A, Karell, P, Kasela, S, Lahti, J, McRae, A F, Mandaviya, P R, Seppälä, I, Wang, Y, Baglietto, L, Binder, E B, Harris, S E, Hodge, A M, Horvath, S, Hurme, M, Johannesson, M, Latvala, A, Mather, K A, Medland, S E, Metspalu, A, Milani, L, Milne, R L, Pattie, A, Pedersen, N L, Peters, A, Polidoro, S, Räikkönen, K, Severi, G, Starr, J M, Stolk, L, Waldenberger, M, Consortium, B IOS, Eriksson, J G, Esko, T, Franke, L, Gieger, C, Giles, G G, Hägg, S, Jousilahti, P, Kaprio, J, Kähönen, M, Lehtimäki, T, Martin, N G, van Meurs, J BC, Ollikainen, M, Perola, M, Posthuma, D, Raitakari, O T, Sachdev, P S, Taskesen, E, Uitterlinden, A G, Vineis, P, Wijmenga, C, Wright, M J, Relton, C, Smith, G Davey, Deary, I J, Koellinger, P D, and Benjamin, D J
Published: 2017
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5. Association between work characteristics and epigenetic age acceleration:cross-sectional results from UK – understanding society study

Author: Freni-Sterrantino, A. (Anna), Fiorito, G. (Giovanni), d’Errico, A. (Angelo), Virtanen, M. (Marianna), Ala-Mursula, L. (Leena), Järvelin, M.-R. (Marjo-Riitta), Vineis, P. (Paolo), Robinson, O. (Oliver), Freni-Sterrantino, A. (Anna), Fiorito, G. (Giovanni), d’Errico, A. (Angelo), Virtanen, M. (Marianna), Ala-Mursula, L. (Leena), Järvelin, M.-R. (Marjo-Riitta), Vineis, P. (Paolo), and Robinson, O. (Oliver)
Abstract: Occupation-related stress and work characteristics are possible determinants of social inequalities in epigenetic aging but have been little investigated. Here, we investigate the association of several work characteristics with epigenetic age acceleration (AA) biomarkers. The study population included employed and unemployed men and women (n = 631) from the UK Understanding Society study. We evaluated the association of employment and work characteristics related to job type, job stability; job schedule; autonomy and influence at work; occupational physical activity; and feelings regarding the job with four epigenetic age acceleration biomarkers (Hannum, Horvath, PhenoAge, GrimAge) and pace of aging (DunedinPoAm, DunedinPACE). We fitted linear regression models, unadjusted and adjusted for established risk factors, and found the following associations for unemployment (years of acceleration): HorvathAA (1.51, 95% CI 0.08, 2.95), GrimAgeAA (1.53, 95% CI 0.16, 2.90) and 3.21 years for PhenoAA (95% CI 0.89, 5.33). Job insecurity increased PhenoAA (1.83, 95% CI 0.003, 3.67), while working at night was associated with an increase of 2.12 years in GrimAgeAA (95% CI 0.69, 3.55). We found effects of unemployment to be stronger in men and effects of night shift work to be stronger in women. These results provide evidence of associations between unemployment with accelerated ageing and suggest that insecure employment and night work may also increase age acceleration. Our findings have implications for policies relating to current changes in working conditions and highlight the utility of biological age biomarkers in studies in younger populations without long-term health information.
Published: 2022

6. Methylation-based markers of aging and lifestyle-related factors and risk of breast cancer: a pooled analysis of four prospective studies

Author: Dugue, P-A, Bodelon, C, Chung, FF, Brewer, HR, Ambatipudi, S, Sampson, JN, Cuenin, C, Chajes, V, Romieu, I, Fiorito, G, Sacerdote, C, Krogh, V, Panico, S, Tumino, R, Vineis, P, Polidoro, S, Baglietto, L, English, D, Severi, G, Giles, GG, Milne, RL, Herceg, Z, Garcia-Closas, M, Flanagan, JM, Southey, MC, Dugue, P-A, Bodelon, C, Chung, FF, Brewer, HR, Ambatipudi, S, Sampson, JN, Cuenin, C, Chajes, V, Romieu, I, Fiorito, G, Sacerdote, C, Krogh, V, Panico, S, Tumino, R, Vineis, P, Polidoro, S, Baglietto, L, English, D, Severi, G, Giles, GG, Milne, RL, Herceg, Z, Garcia-Closas, M, Flanagan, JM, and Southey, MC
Abstract: BACKGROUND: DNA methylation in blood may reflect adverse exposures accumulated over the lifetime and could therefore provide potential improvements in the prediction of cancer risk. A substantial body of research has shown associations between epigenetic aging and risk of disease, including cancer. Here we aimed to study epigenetic measures of aging and lifestyle-related factors in association with risk of breast cancer. METHODS: Using data from four prospective case-control studies nested in three cohorts of European ancestry participants, including a total of 1,655 breast cancer cases, we calculated three methylation-based measures of lifestyle factors (body mass index [BMI], tobacco smoking and alcohol consumption) and seven measures of epigenetic aging (Horvath-based, Hannum-based, PhenoAge and GrimAge). All measures were regression-adjusted for their respective risk factors and expressed per standard deviation (SD). Odds ratios (OR) and 95% confidence intervals (CI) were calculated using conditional or unconditional logistic regression and pooled using fixed-effects meta-analysis. Subgroup analyses were conducted by age at blood draw, time from blood sample to diagnosis, oestrogen receptor-positivity status and tumour stage. RESULTS: None of the measures of epigenetic aging were associated with risk of breast cancer in the pooled analysis: Horvath 'age acceleration' (AA): OR per SD = 1.02, 95%CI: 0.95-1.10; AA-Hannum: OR = 1.03, 95%CI:0.95-1.12; PhenoAge: OR = 1.01, 95%CI: 0.94-1.09 and GrimAge: OR = 1.03, 95%CI: 0.94-1.12, in models adjusting for white blood cell proportions, body mass index, smoking and alcohol consumption. The BMI-adjusted predictor of BMI was associated with breast cancer risk, OR per SD = 1.09, 95%CI: 1.01-1.17. The results for the alcohol and smoking methylation-based predictors were consistent with a null association. Risk did not appear to substantially vary by age at blood draw, time to diagnosis or tumour characteristics. CONCLUSION
Published: 2022

7. DNA methylation signature of chronic low-grade inflammation and its role in cardio-respiratory diseases

Author: Wielscher, M. (Matthias), Mandaviya, P. R. (Pooja R.), Kuehnel, B. (Brigitte), Joehanes, R. (Roby), Mustafa, R. (Rima), Robinson, O. (Oliver), Zhang, Y. (Yan), Bodinier, B. (Barbara), Walton, E. (Esther), Mishra, P. P. (Pashupati P.), Schlosser, P. (Pascal), Wilson, R. (Rory), Tsai, P.-C. (Pei-Chien), Palaniswamy, S. (Saranya), Marioni, R. E. (Riccardo E.), Fiorito, G. (Giovanni), Cugliari, G. (Giovanni), Karhunen, V. (Ville), Ghanbari, M. (Mohsen), Psaty, B. M. (Bruce M.), Loh, M. (Marie), Bis, J. C. (Joshua C.), Lehne, B. (Benjamin), Sotoodehnia, N. (Nona), Deary, I. J. (Ian J.), Chadeau-Hyam, M. (Marc), Brody, J. A. (Jennifer A.), Cardona, A. (Alexia), Selvin, E. (Elizabeth), Smith, A. K. (Alicia K.), Miller, A. H. (Andrew H.), Torres, M. A. (Mylin A.), Marouli, E. (Eirini), Gao, X. (Xin), van Meurs, J. B. (Joyce B. J.), Graf-Schindler, J. (Johanna), Rathmann, W. (Wolfgang), Koenig, W. (Wolfgang), Peters, A. (Annette), Weninger, W. (Wolfgang), Farlik, M. (Matthias), Zhang, T. (Tao), Chen, W. (Wei), Xia, Y. (Yujing), Teumer, A. (Alexander), Nauck, M. (Matthias), Grabe, H. J. (Hans J.), Doerr, M. (Macus), Lehtimaki, T. (Terho), Guan, W. (Weihua), Milani, L. (Lili), Tanaka, T. (Toshiko), Fisher, K. (Krista), Waite, L. L. (Lindsay L.), Kasela, S. (Silva), Vineis, P. (Paolo), Verweij, N. (Niek), van der Harst, P. (Pim), Iacoviello, L. (Licia), Sacerdote, C. (Carlotta), Panico, S. (Salvatore), Krogh, V. (Vittorio), Tumino, R. (Rosario), Tzala, E. (Evangelia), Matullo, G. (Giuseppe), Hurme, M. A. (Mikko A.), Raitakari, O. T. (Olli T.), Colicino, E. (Elena), Baccarelli, A. A. (Andrea A.), Kahonen, M. (Mika), Herzig, K.-H. (Karl-Heinz), Li, S. (Shengxu), BIOS consortium, Conneely, K. N. (Karen N.), Kooner, J. S. (Jaspal S.), Kottgen, A. (Anna), Heijmans, B. T. (Bastiaan T.), Deloukas, P. (Panos), Relton, C. (Caroline), Ong, K. K. (Ken K.), Bell, J. T. (Jordana T.), Boerwinkle, E. (Eric), Elliott, P. (Paul), Brenner, H. (Hermann), Beekman, M. (Marian), Levy, D. (Daniel), Waldenberger, M. (Melanie), Chambers, J. C. (John C.), Dehghan, A. (Abbas), Järvelin, M.-R. (Marjo-Riitta), Wielscher, M. (Matthias), Mandaviya, P. R. (Pooja R.), Kuehnel, B. (Brigitte), Joehanes, R. (Roby), Mustafa, R. (Rima), Robinson, O. (Oliver), Zhang, Y. (Yan), Bodinier, B. (Barbara), Walton, E. (Esther), Mishra, P. P. (Pashupati P.), Schlosser, P. (Pascal), Wilson, R. (Rory), Tsai, P.-C. (Pei-Chien), Palaniswamy, S. (Saranya), Marioni, R. E. (Riccardo E.), Fiorito, G. (Giovanni), Cugliari, G. (Giovanni), Karhunen, V. (Ville), Ghanbari, M. (Mohsen), Psaty, B. M. (Bruce M.), Loh, M. (Marie), Bis, J. C. (Joshua C.), Lehne, B. (Benjamin), Sotoodehnia, N. (Nona), Deary, I. J. (Ian J.), Chadeau-Hyam, M. (Marc), Brody, J. A. (Jennifer A.), Cardona, A. (Alexia), Selvin, E. (Elizabeth), Smith, A. K. (Alicia K.), Miller, A. H. (Andrew H.), Torres, M. A. (Mylin A.), Marouli, E. (Eirini), Gao, X. (Xin), van Meurs, J. B. (Joyce B. J.), Graf-Schindler, J. (Johanna), Rathmann, W. (Wolfgang), Koenig, W. (Wolfgang), Peters, A. (Annette), Weninger, W. (Wolfgang), Farlik, M. (Matthias), Zhang, T. (Tao), Chen, W. (Wei), Xia, Y. (Yujing), Teumer, A. (Alexander), Nauck, M. (Matthias), Grabe, H. J. (Hans J.), Doerr, M. (Macus), Lehtimaki, T. (Terho), Guan, W. (Weihua), Milani, L. (Lili), Tanaka, T. (Toshiko), Fisher, K. (Krista), Waite, L. L. (Lindsay L.), Kasela, S. (Silva), Vineis, P. (Paolo), Verweij, N. (Niek), van der Harst, P. (Pim), Iacoviello, L. (Licia), Sacerdote, C. (Carlotta), Panico, S. (Salvatore), Krogh, V. (Vittorio), Tumino, R. (Rosario), Tzala, E. (Evangelia), Matullo, G. (Giuseppe), Hurme, M. A. (Mikko A.), Raitakari, O. T. (Olli T.), Colicino, E. (Elena), Baccarelli, A. A. (Andrea A.), Kahonen, M. (Mika), Herzig, K.-H. (Karl-Heinz), Li, S. (Shengxu), BIOS consortium, Conneely, K. N. (Karen N.), Kooner, J. S. (Jaspal S.), Kottgen, A. (Anna), Heijmans, B. T. (Bastiaan T.), Deloukas, P. (Panos), Relton, C. (Caroline), Ong, K. K. (Ken K.), Bell, J. T. (Jordana T.), Boerwinkle, E. (Eric), Elliott, P. (Paul), Brenner, H. (Hermann), Beekman, M. (Marian), Levy, D. (Daniel), Waldenberger, M. (Melanie), Chambers, J. C. (John C.), Dehghan, A. (Abbas), and Järvelin, M.-R. (Marjo-Riitta)
Abstract: We performed a multi-ethnic Epigenome Wide Association study on 22,774 individuals to describe the DNA methylation signature of chronic low-grade inflammation as measured by C-Reactive protein (CRP). We find 1,511 independent differentially methylated loci associated with CRP. These CpG sites show correlation structures across chromosomes, and are primarily situated in euchromatin, depleted in CpG islands. These genomic loci are predominantly situated in transcription factor binding sites and genomic enhancer regions. Mendelian randomization analysis suggests altered CpG methylation is a consequence of increased blood CRP levels. Mediation analysis reveals obesity and smoking as important underlying driving factors for changed CpG methylation. Finally, we find that an activated CpG signature significantly increases the risk for cardiometabolic diseases and COPD.
Published: 2022

8. Handbook of pathogens and diseases in cephalopods

Author: Gestal, C., Pascual, Santiago, Guerra, Ángel, Fiorito, G., and Vieites, Juan Manuel
Abstract: 113th Annual Meeting National Shellfisheries Association, Virtual Conference, March 22 – 25, 2021, Cephalopods are valuable seafood for human consumption, good candidates for aquaculture and interesting models for research. The recent inclusion of cephalopods in the Directive 2010/EU regulates the use of animals for scientific purposes and obliges researchers to promote the best health and welfare practices during aquarium maintenance. The identification of pathogens and produced diseases are consequently of major interest to improve the cephalopod welfare and husbandry. Despite the increased interest in cephalopods as sea food, and the recommendations of FSA on parasite risk in fishery products, currently only fragmentary information on pathogens and diseases in cephalopods exists. This book has been designed as a short, easy to follow ¿handbook¿ with the aim of facilitate the identification and description of the different organs as well as pathogens and diseases affecting the most representative species of cephalopods focused on Octopus vulgaris, Sepia officinalis, and Loligo vulgaris. The study is based on photographs at macroscopic and histological level in order to illustrate the role of the most important pathogens and related diseases. The reader is able to familiarize with functional anatomy, necropsy and general histology of adults and paralarvae, as well as with the identification of different pathogens and pathologies. This work is thus a guide for the diagnosis of cephalopod diseases. Besides including pathogens for non-European cephalopod species, it also provides a useful contribution encouraging marine pathologists, parasitologists, veterinarians and those involved in fishery sanitary assessments, aquarium maintenance and aquaculture practices aiming to increase their knowledge about the pathology of cephalopods
Published: 2021

9. Stochastic epigenetic mutations are associated with risk of breast cancer, lung cancer, and mature b-cell neoplasms.

Author: Gagliardi A., Dugue P.-A., Nost T.H., Southey M.C., Buchanan D.D., Schmidt D.F., Makalic E., Hodge A.M., English D.R., Doo N.W., Hopper J.L., Severi G., Baglietto L., Naccarati A., Tarallo S., Pace L., Krogh V., Palli D., Panico S., Sacerdote C., Tumino R., Lund E., Giles G.G., Pardini B., Sandanger T.M., Milne R.L., Vineis P., Polidoro S., Fiorito G., Gagliardi A., Dugue P.-A., Nost T.H., Southey M.C., Buchanan D.D., Schmidt D.F., Makalic E., Hodge A.M., English D.R., Doo N.W., Hopper J.L., Severi G., Baglietto L., Naccarati A., Tarallo S., Pace L., Krogh V., Palli D., Panico S., Sacerdote C., Tumino R., Lund E., Giles G.G., Pardini B., Sandanger T.M., Milne R.L., Vineis P., Polidoro S., and Fiorito G.
Abstract: Background: Age-related epigenetic dysregulations are associated with several diseases, including cancer. The number of stochastic epigenetic mutations (SEM) has been suggested as a biomarker of life-course accumulation of exposure-related DNA damage; however, the predictive role of SEMs in cancer has seldom been investigated. Method(s): A SEM, at a given CpG site, was defined as an extreme outlier of DNA methylation value distribution across individuals. We investigated the association of the total number of SEMs with the risk of eight cancers in 4,497 case-control pairs nested in three prospective cohorts. Furthermore, we investigated whether SEMs were randomly distributed across the genome or enriched in functional genomic regions. Result(s): In the three-study meta-analysis, the estimated ORs per one-unit increase in log(SEM) from logistic regression models adjusted for age and cancer risk factors were 1.25; 95% confidence interval (CI), 1.11-1.41 for breast cancer, and 1.23; 95% CI, 1.07-1.42 for lung cancer. In the Melbourne Collaborative Cohort Study, the OR for mature B-cell neoplasm was 1.46; 95% CI, 1.25-1.71. Enrichment analyses indicated that SEMs frequently occur in silenced genomic regions and in transcription factor binding sites regulated by EZH2 and SUZ12 (P < 0.0001 and P 1/4 0.0005, respectively): two components of the polycomb repressive complex 2 (PCR2). Finally, we showed that PCR2-specific SEMs are generally more stable over time compared with SEMs occurring in the whole genome. Conclusion(s): The number of SEMs is associated with a higher risk of different cancers in prediagnostic blood samples. Impact: We identified a candidate biomarker for cancer early detection, and we described a carcinogenesis mechanism involving PCR2 complex proteins worthy of further investigations. The authors are very thankful to Dr. Akram Ghantous (IARC, Lyon, France) for the methylation analyses of PEM-Turin study, produced within the Exposomics EC FP7 grant (gran
Published: 2021

10. Can Cephalopods Vomit? Hypothesis Based on a Review of Circumstantial Evidence and Preliminary Experimental Observations

Author: Vidal, E.A,G. (Erica E.G.), Rosa, R. (Rui), Fiorito, G. (Graziano), Sykes, A.V., Almansa, Eduardo, Ponte, Giovanna, Cooke, G.M., Andrews, P.L.R., Vidal, E.A,G. (Erica E.G.), Rosa, R. (Rui), Fiorito, G. (Graziano), Sykes, A.V., Almansa, Eduardo, Ponte, Giovanna, Cooke, G.M., and Andrews, P.L.R.
Abstract: In representative species of all vertebrate classes, the oral ejection of upper digestive tract contents by vomiting or regurgitation is used to void food contaminated with toxins or containing indigestible material not voidable in the feces. Vomiting or regurgitation has been reported in a number of invertebrate marine species (Exaiptasia diaphana, Cancer productus, and Pleurobranchaea californica), prompting consideration of whether cephalopods have this capability. This “hypothesis and theory” paper reviews four lines of supporting evidence: (1) the mollusk P. californica sharing some digestive tract morphological and innervation similarities with Octopus vulgaris is able to vomit or regurgitate with the mechanisms well characterized, providing an example of motor program switching; (2) a rationale for vomiting or regurgitation in cephalopods based upon the potential requirement to void indigestible material, which may cause damage and ejection of toxin contaminated food; (3) anecdotal reports (including from the literature) of vomiting- or regurgitation-like behavior in several species of cephalopod (Sepia officinalis, Sepioteuthis sepioidea, O. vulgaris, and Enteroctopus dofleini); and (4) anatomical and physiological studies indicating that ejection of gastric/crop contents via the buccal cavity is a theoretical possibility by retroperistalsis in the upper digestive tract (esophagus, crop, and stomach). We have not identified any publications refuting our hypothesis, so a balanced review is not possible. Overall, the evidence presented is circumstantial, so experiments adapting current methodology (e.g., research community survey, in vitro studies of motility, and analysis of indigestible gut contents and feces) are described to obtain additional evidence to either support or refute our hypothesis. We recognize the possibility that further research may not support the hypothesis; therefore, we consider how cephalopods may protect themselves against ingestion o
Published: 2021

11. Subverting the Naive (mis)Perception of Animal Intelligence: From the Scala Naturae to the Darwinian Tree Via a Simple Survey

Author: Chiandetti, C, Dissegna, A, Nakajima, R, Fiorito, G, Chiandetti, C, Dissegna, A, Nakajima, R, and Fiorito, G
Subjects: Perception, anthropocentrism, speciesism
Published: 2019

12. Agnostic Cys34-albumin adductomics and DNA methylation: Implication of N-acetylcysteine in lung carcinogenesis years before diagnosis

Author: IRAS OH Epidemiology Chemical Agents, dIRAS RA-2, Dagnino, S., Bodinier, B., Grigoryan, H., Rappaport, S.M., Karimi, M., Guida, F., Polidoro, S., Edmands, W.B., Naccarati, A., Fiorito, G., Sacerdote, C., Krogh, V., Vermeulen, R., Vineis, P., Chadeau-Hyam, M., IRAS OH Epidemiology Chemical Agents, dIRAS RA-2, Dagnino, S., Bodinier, B., Grigoryan, H., Rappaport, S.M., Karimi, M., Guida, F., Polidoro, S., Edmands, W.B., Naccarati, A., Fiorito, G., Sacerdote, C., Krogh, V., Vermeulen, R., Vineis, P., and Chadeau-Hyam, M.
Published: 2020

13. Determinants of accelerated metabolomic and epigenetic aging in a UK cohort

Author: Robinson, O. (Oliver), Chadeau Hyam, M. (Marc), Karaman, I. (Ibrahim), Climaco Pinto, R. (Rui), Ala-Korpela, M. (Mika), Handakas, E. (Evangelos), Fiorito, G. (Giovanni), Gao, H. (He), Heard, A. (Andy), Jarvelin, M. (Marjo‐Riitta), Lewis, M. (Matthew), Pazoki, R. (Raha), Polidoro, S. (Silvia), Tzoulaki, I. (Ioanna), Wielscher, M. (Matthias), Elliott, P. (Paul), Vineis, P. (Paolo), Robinson, O. (Oliver), Chadeau Hyam, M. (Marc), Karaman, I. (Ibrahim), Climaco Pinto, R. (Rui), Ala-Korpela, M. (Mika), Handakas, E. (Evangelos), Fiorito, G. (Giovanni), Gao, H. (He), Heard, A. (Andy), Jarvelin, M. (Marjo‐Riitta), Lewis, M. (Matthew), Pazoki, R. (Raha), Polidoro, S. (Silvia), Tzoulaki, I. (Ioanna), Wielscher, M. (Matthias), Elliott, P. (Paul), and Vineis, P. (Paolo)
Abstract: Markers of biological aging have potential utility in primary care and public health. We developed a model of age based on untargeted metabolic profiling across multiple platforms, including nuclear magnetic resonance spectroscopy and liquid chromatography–mass spectrometry in urine and serum, within a large sample (N = 2,239) from the UK Airwave cohort. We validated a subset of model predictors in a Finnish cohort including repeat measurements from 2,144 individuals. We investigated the determinants of accelerated aging, including lifestyle and psychological risk factors for premature mortality. The metabolomic age model was well correlated with chronological age (mean r = 0.86 across independent test sets). Increased metabolomic age acceleration (mAA) was associated after false discovery rate (FDR) correction with overweight/obesity, diabetes, heavy alcohol use and depression. DNA methylation age acceleration measures were uncorrelated with mAA. Increased DNA methylation phenotypic age acceleration (N = 1,110) was associated after FDR correction with heavy alcohol use, hypertension and low income. In conclusion, metabolomics is a promising approach for the assessment of biological age and appears complementary to established epigenetic clocks.
Published: 2020

14. Behavioral Analysis of Learning and Memory in Cephalopods

Author: Borrelli, L., primary and Fiorito, G., additional
Published: 2008
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15. Height Loss, Vertebral Fractures, and Misclassification of Osteoporosis: P37

Author: Xu, W., Medich, D., Berger, L., Fiorito, G., Perera, S., and Greenspan, S. L.
Published: 2008

16. Socioeconomic position, lifestyle habits and biomarkers of epigenetic aging: a multi-cohort analysis

Author: Fiorito, G., Mccrory, C., Robinson, O., Carmeli, C., Rosales, C. O., Zhang, Y., Colicino, E., Dugue, P. -A., Artaud, F., Mckay, G. J., Jeong, A., Mishra, P. P., Nost, T. H., Krogh, V., Panico, S., Sacerdote, C., Tumino, R., Palli, D., Matullo, G., Guarrera, S., Gandini, M., Bochud, M., Dermitzakis, E., Muka, T., Schwartz, J., Vokonas, P. S., Just, A., Hodge, A. M., Giles, G. G., Southey, M. C., Hurme, M. A., Young, I., Mcknight, A. J., Kunze, S., Waldenberger, M., Peters, A., Schwettmann, L., Lund, E., Baccarelli, A., Milne, R. L., Kenny, R. A., Elbaz, A., Brenner, H., Kee, F., Voortman, T., Probst-Hensch, N., Lehtimaki, T., Elliot, P., Stringhini, S., Vineis, P., Polidoro, S., Alberts, J., Alenius, H., Avendano, M., Baltar, V., Bartley, M., Barros, H., Bellone, M., Berger, E., Blane, D., Candiani, G., Carra, L., Castagne, R., Chadeau-Hyam, M., Cima, S., Clavel-Chapelon, F., Costa, G., Courtin, E., Delpierre, C., D'Errico, A., Dermitzakis, M., Elovainio, M., Elliott, P., Fagherazzi, G., Fraga, S., Gares, V., Gerbouin-Rerolle, P., Giles, G., Goldberg, M., Greco, D., Guessous, I., Haba-Rubio, J., Heinzer, R., Hodge, A., Joost, S., Karimi, M., Kelly-Irving, M., Kahonen, M., Karisola, P., Khenissi, L., Kivimaki, M., Laine, J., Lang, T., Laurent, A., Layte, R., Lepage, B., Lorsch, D., Macguire, F., Machell, G., Mackenbach, J., Marmot, M., de Mestral, C., Miller, C., Milne, R., Muennig, P., Nusselder, W., Petrovic, D., Pilapil, L., Preisig, M., Pulkki-Raback, L., Raitakari, O., Ribeiro, A. I., Ricceri, F., Recalcati, P., Reinhard, E., Valverde, J. R., Saba, S., Santegoets, F., Satolli, R., Simmons, T., Severi, G., Shipley, M. J., Tabak, A., Terhi, V., Tieulent, J., Vaccarella, S., Vigna-Taglianti, F., Vollenweider, P., Vuilleumier, N., Zins, M., Medical Research Council (MRC), Commission of the European Communities, BIOS Consortium, Lifepath consortium, Epidemiology, Dermitzakis, Emmanouil, and Stringhini, Silvia
Subjects: Male, Aging, Geriatrics & Gerontology, Disease, epigenetic clocks, Bioinformatics, 0601 Biochemistry and Cell Biology, DISEASE, Epigenesis, Genetic, Cohort Studies, 0302 clinical medicine, Risk Factors, DNA METHYLATION, media_common, 0303 health sciences, education, Lifepath consortium, VDP::Medisinske Fag: 700::Helsefag: 800::Samfunnsmedisin, sosialmedisin: 801, CARDIOVASCULAR RISK, Aged, Aging/genetics, Aging/psychology, DNA Methylation, Educational Status, Female, Humans, Life Style, Mutation, Social Class, biological aging, socioeconomic position, Longevity, ASSOCIATION, Biological aging, Education, Epigenetic clocks, Socioeconomic position, 3. Good health, WIDE METHYLATION, Aging/genetics/psychology, DNA methylation, Biomarker (medicine), HEALTH, BIOS Consortium, Life Sciences & Biomedicine, Research Paper, Cohort study, VDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk genetikk: 714, media_common.quotation_subject, CANCER-RISK, 610 Medicine & health, VDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710::Medical genetics: 714, Biology, PERIPHERAL-BLOOD, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Genetic, 360 Social problems & social services, 1112 Oncology and Carcinogenesis, Epigenetics, ddc:613, 030304 developmental biology, Science & Technology, Mechanism (biology), MUTATIONS, dNaM, Socioeconomic Position, Biological Aging, Epigenetic Clocks, Cell Biology, 0606 Physiology, DRIFT, VDP::Medical disciplines: 700::Health sciences: 800::Community medicine, Social medicine: 801, 030217 neurology & neurosurgery, Epigenesis
Abstract: Source at https://doi.org/10.18632/aging.101900. Differences in health status by socioeconomic position (SEP) tend to be more evident at older ages, suggesting the involvement of a biological mechanism responsive to the accumulation of deleterious exposures across the lifespan. DNA methylation (DNAm) has been proposed as a biomarker of biological aging that conserves memory of endogenous and exogenous stress during life. We examined the association of education level, as an indicator of SEP, and lifestyle-related variables with four biomarkers of age-dependent DNAm dysregulation: the total number of stochastic epigenetic mutations (SEMs) and three epigenetic clocks (Horvath, Hannum and Levine), in 18 cohorts spanning 12 countries. The four biological aging biomarkers were associated with education and different sets of risk factors independently, and the magnitude of the effects differed depending on the biomarker and the predictor. On average, the effect of low education on epigenetic aging was comparable with those of other lifestyle-related risk factors (obesity, alcohol intake), with the exception of smoking, which had a significantly stronger effect. Our study shows that low education is an independent predictor of accelerated biological (epigenetic) aging and that epigenetic clocks appear to be good candidates for disentangling the biological pathways underlying social inequalities in healthy aging and longevity.
Published: 2019

17. Introduction. Handbook of Pathogens and Diseases in Cephalopods

Author: Gestal, C., Pascual, Santiago, Guerra, Ángel, Fiorito, G., and Vieites, Juan Manuel
Subjects: Cephalopods, Seafood, Pathology, Fisheries, Infectious diseases, Parasites, Aquaculture
Abstract: 4 pages.-- This chapter is licensed under the terms of the Creative Commons Attribution 4.0 International License, Cephalopods are valuable seafood for human consumption, and some of them are good candidates for aquaculture. In addition, they have evolved many characteristic features that make them interesting models for research. The recent inclusion of cephalopods in the Directive 2010/EU regulates the use of animals for scientific purposes and obliges cephalopod researchers to promote the best health and welfare practices during aquarium maintenance or aquaculture procedures. The identification of diseases of cephalopods, and the pathogens that cause them, is consequently of major interest to improve cephalopod welfare and husbandry. This work has been designed as a short, easy to follow ‘handbook,’ with the aim of presenting fundamental aspects of the anatomical and histological structures as well as the identification of different pathogens, the resulting histopathology, and the diagnosis of diseases in cephalopods. We hope it will provide a useful contribution that will also encourage marine pathologists, parasitologists, veterinarians and those involved in fishery sanitary assessment, aquarium maintenance, and aquaculture practice to increase our knowledge about the pathology of cephalopods further
Published: 2019

18. Maternal educational inequalities in measured body mass index trajectories in three European countries

Author: Mccrory, C., Leahy, S., Ribeiro, A. I., Fraga, S., Barros, H., Avendano, M., Vineis, P., Layte, R., Alenius, H., Baglietto, L., Bartley, M., Bellone, M., Berger, E., Bochud, M., Candiani, G., Carmeli, C., Carra, L., Castagne, R., Chadeau-Hyam, M., Cima, S., Costa, G., Courtin, E., Delpierre, C., D'Errico, A., Donkin, A., Dugue, P. -A., Elliott, P., Fagherazzi, G., Fiorito, G., Gandini, Martina, Gares, V., Gerbouin-Rerrolle, P., Giles, G., Goldberg, M., Greco, D., Guida, F., Hodge, A., Karimi, M., Karisola, P., Kelly, M., Kivimaki, M., Laine, J., Lang, T., Laurent, A., Lepage, B., Lorsch, D., Machell, G., Mackenbach, J., Marmot, M., Milne, David Robert, Muennig, P., Nusselder, W., Petrovic, D., Polidoro, S., Preisig, M., Recalcati, P., Reinhard, E., Ricceri, F., Robinson, O., Jose, R., Severi, PAULA GABRIELA, Simmons, T., Stringhini, S., Terhi, V., Than, J., Vergnaud, A. -C., Vigna-Taglianti, F., Vollenweider, P., Zins, M., Epidemiology, Public Health, HRB, and ERC
Subjects: Male, Pediatric Obesity, obesity, Adolescent, Inequality, Epidemiology, body mass index, children, cohort study, growth curves, overweight, social inequalities, media_common.quotation_subject, Social gradient, Mothers, Prospective data, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Prevalence, medicine, Humans, Social inequality, Prospective Studies, Child, media_common, 2. Zero hunger, 030219 obstetrics & reproductive medicine, Portugal, business.industry, 4. Education, Health Status Disparities, medicine.disease, Obesity, United Kingdom, Millennium Cohort Study (United States), Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Educational Status, Female, business, Ireland, Body mass index, Demography
Abstract: BACKGROUND: Social inequalities in the prevalence of childhood overweight and obesity are well-established, but less is known about when the social gradient first emerges and how it evolves across childhood and adolescence.OBJECTIVE: This study examines maternal education differentials in children's body mass trajectories in infancy, childhood and adolescence using data from four contemporary European child cohorts.METHODS: Prospective data on children's body mass index (BMI) were obtained from four cohort studies-Generation XXI (G21-Portugal), Growing Up in Ireland (GUI) infant and child cohorts, and the Millennium Cohort Study (MCS-UK)-involving a total sample of 41,399 children and 120,140 observations. Children's BMI trajectories were modelled by maternal education level using mixed-effect models.RESULTS: Maternal educational inequalities in children's BMI were evident as early as three years of age. Children from lower maternal educational backgrounds were characterised by accelerated BMI growth, and the extent of the disparity was such that boys from primary-educated backgrounds measured 0.42 kg/m2 (95% CI 0.24, 0.60) heavier at 7 years of age in G21, 0.90 kg/m2 (95% CI 0.60, 1.19) heavier at 13 years of age in GUI and 0.75 kg/m2 (95% CI 0.52, 0.97) heavier in MCS at 14 years of age. The corresponding figures for girls were 0.71 kg/m2 (95% CI 0.50, 0.91), 1.31 kg/m2 (95% CI 1.00, 1.62) and 0.76 kg/m2 (95% CI 0.53, 1.00) in G21, GUI and MCS, respectively.CONCLUSIONS: Maternal education is a strong predictor of BMI across European nations. Socio-economic differentials emerge early and widen across childhood, highlighting the need for early intervention.
Published: 2019

19. Socioeconomic position, lifestyle habits and biomarkers of epigenetic aging: a multi-cohort analysis.

Author: Kee F., Rosales C.O., Zhang Y., Colicino E., Dugue P.-A., Artaud F., McKay G.J., Jeong A., Mishra P.P., Elbaz A., Brenner H., Carmeli C., Voortman T., Probst-Hensch N., Lehtimaki T., Elliot P., Stringhini S., Vineis P., Polidoro S., Fiorito G., McCrory C., Robinson O., Nost T.H., Krogh V., Panico S., Sacerdote C., Tumino R., Palli D., Matullo G., Guarrera S., Gandini M., Bochud M., Dermitzakis E., Muka T., Schwartz J., Vokonas P.S., Just A., Hodge A.M., Giles G.G., Southey M.C., Hurme M.A., Young I., McKnight A.J., Kunze S., Waldenberger M., Peters A., Schwettmann L., Lund E., Baccarelli A., Milne R.L., Kenny R.A., Kee F., Rosales C.O., Zhang Y., Colicino E., Dugue P.-A., Artaud F., McKay G.J., Jeong A., Mishra P.P., Elbaz A., Brenner H., Carmeli C., Voortman T., Probst-Hensch N., Lehtimaki T., Elliot P., Stringhini S., Vineis P., Polidoro S., Fiorito G., McCrory C., Robinson O., Nost T.H., Krogh V., Panico S., Sacerdote C., Tumino R., Palli D., Matullo G., Guarrera S., Gandini M., Bochud M., Dermitzakis E., Muka T., Schwartz J., Vokonas P.S., Just A., Hodge A.M., Giles G.G., Southey M.C., Hurme M.A., Young I., McKnight A.J., Kunze S., Waldenberger M., Peters A., Schwettmann L., Lund E., Baccarelli A., Milne R.L., and Kenny R.A.
Abstract: Differences in health status by socioeconomic position (SEP) tend to be more evident at older ages, suggesting the involvement of a biological mechanism responsive to the accumulation of deleterious exposures across the lifespan. DNA methylation (DNAm) has been proposed as a biomarker of biological aging that conserves memory of endogenous and exogenous stress during life.We examined the association of education level, as an indicator of SEP, and lifestyle-related variables with four biomarkers of age-dependent DNAm dysregulation: the total number of stochastic epigenetic mutations (SEMs) and three epigenetic clocks (Horvath, Hannum and Levine), in 18 cohorts spanning 12 countries.The four biological aging biomarkers were associated with education and different sets of risk factors independently, and the magnitude of the effects differed depending on the biomarker and the predictor. On average, the effect of low education on epigenetic aging was comparable with those of other lifestyle-related risk factors (obesity, alcohol intake), with the exception of smoking, which had a significantly stronger effect.Our study shows that low education is an independent predictor of accelerated biological (epigenetic) aging and that epigenetic clocks appear to be good candidates for disentangling the biological pathways underlying social inequalities in healthy aging and longevity.
Published: 2019

20. Socioeconomic position, lifestyle habits and biomarkers of epigenetic aging: a multi-cohort analysis

Author: Fiorito, G, McCrory, C, Robinson, O, Carmeli, C, Rosales, CO, Zhang, Y, Colicino, E, Dugue, P-A, Artaud, F, Mckay, GJ, Jeong, A, Mishra, PP, Nost, TH, Krogh, V, Panico, S, Sacerdote, C, Tumino, R, Palli, D, Matullo, G, Guarrera, S, Gandini, M, Bochud, M, Dermitzakis, E, Muka, T, Schwartz, J, Vokonas, PS, Just, A, Hodge, AM, Giles, GG, Southey, MC, Hurme, MA, Young, I, McKnight, AJ, Kunze, S, Waldenberger, M, Peters, A, Schwettmann, L, Lund, E, Baccarelli, A, Milne, RL, Kenny, RA, Elbaz, A, Brenner, H, Kee, F, Voortman, T, Probst-Hensch, N, Lehtimaki, T, Elliot, P, Stringhini, S, Vineis, P, Polidoro, S, Alberts, J, Alenius, H, Avendano, M, Baltar, V, Bartley, M, Barros, H, Bellone, M, Berger, E, Blane, D, Candiani, G, Carra, L, Castagne, R, Chadeau-Hyam, M, Cima, S, Clavel-Chapelon, F, Costa, G, Courtin, E, Delpierre, C, D'Errico, A, Manolis, Dermitzakis, Elovainio, M, Elliott, P, Fagherazzi, G, Fraga, S, Gares, V, Gerbouin-Rerolle, P, Giles, G, Goldberg, M, Greco, D, Guessous, I, Haba-Rubio, J, Heinzer, R, Hodge, A, Joost, S, Karimi, M, Kelly-Irving, M, Kahonen, M, Karisola, P, Khenissi, L, Kivimaki, M, Laine, J, Lang, T, Laurent, A, Layte, R, Lepage, B, Lorsch, D, MacGuire, F, Machell, G, Mackenbach, J, Marmot, M, de Mestral, C, Miller, C, Milne, R, Muennig, P, Nusselder, W, Petrovic, D, Lourdes, Pilapil, Preisig, M, Pulkki-Raback, L, Raitakari, O, Ribeiro, AI, Ricceri, F, Recalcati, P, Reinhard, E, Valverde, JR, Saba, S, Santegoets, F, Satolli, R, Simmons, T, Severi, G, Shipley, MJ, Tabak, A, Terhi, V, Tieulent, J, Vaccarella, S, Vigna-Taglianti, F, Vollenweider, P, Vuilleumier, N, Zins, M, Fiorito, G, McCrory, C, Robinson, O, Carmeli, C, Rosales, CO, Zhang, Y, Colicino, E, Dugue, P-A, Artaud, F, Mckay, GJ, Jeong, A, Mishra, PP, Nost, TH, Krogh, V, Panico, S, Sacerdote, C, Tumino, R, Palli, D, Matullo, G, Guarrera, S, Gandini, M, Bochud, M, Dermitzakis, E, Muka, T, Schwartz, J, Vokonas, PS, Just, A, Hodge, AM, Giles, GG, Southey, MC, Hurme, MA, Young, I, McKnight, AJ, Kunze, S, Waldenberger, M, Peters, A, Schwettmann, L, Lund, E, Baccarelli, A, Milne, RL, Kenny, RA, Elbaz, A, Brenner, H, Kee, F, Voortman, T, Probst-Hensch, N, Lehtimaki, T, Elliot, P, Stringhini, S, Vineis, P, Polidoro, S, Alberts, J, Alenius, H, Avendano, M, Baltar, V, Bartley, M, Barros, H, Bellone, M, Berger, E, Blane, D, Candiani, G, Carra, L, Castagne, R, Chadeau-Hyam, M, Cima, S, Clavel-Chapelon, F, Costa, G, Courtin, E, Delpierre, C, D'Errico, A, Manolis, Dermitzakis, Elovainio, M, Elliott, P, Fagherazzi, G, Fraga, S, Gares, V, Gerbouin-Rerolle, P, Giles, G, Goldberg, M, Greco, D, Guessous, I, Haba-Rubio, J, Heinzer, R, Hodge, A, Joost, S, Karimi, M, Kelly-Irving, M, Kahonen, M, Karisola, P, Khenissi, L, Kivimaki, M, Laine, J, Lang, T, Laurent, A, Layte, R, Lepage, B, Lorsch, D, MacGuire, F, Machell, G, Mackenbach, J, Marmot, M, de Mestral, C, Miller, C, Milne, R, Muennig, P, Nusselder, W, Petrovic, D, Lourdes, Pilapil, Preisig, M, Pulkki-Raback, L, Raitakari, O, Ribeiro, AI, Ricceri, F, Recalcati, P, Reinhard, E, Valverde, JR, Saba, S, Santegoets, F, Satolli, R, Simmons, T, Severi, G, Shipley, MJ, Tabak, A, Terhi, V, Tieulent, J, Vaccarella, S, Vigna-Taglianti, F, Vollenweider, P, Vuilleumier, N, and Zins, M
Abstract: Differences in health status by socioeconomic position (SEP) tend to be more evident at older ages, suggesting the involvement of a biological mechanism responsive to the accumulation of deleterious exposures across the lifespan. DNA methylation (DNAm) has been proposed as a biomarker of biological aging that conserves memory of endogenous and exogenous stress during life.We examined the association of education level, as an indicator of SEP, and lifestyle-related variables with four biomarkers of age-dependent DNAm dysregulation: the total number of stochastic epigenetic mutations (SEMs) and three epigenetic clocks (Horvath, Hannum and Levine), in 18 cohorts spanning 12 countries.The four biological aging biomarkers were associated with education and different sets of risk factors independently, and the magnitude of the effects differed depending on the biomarker and the predictor. On average, the effect of low education on epigenetic aging was comparable with those of other lifestyle-related risk factors (obesity, alcohol intake), with the exception of smoking, which had a significantly stronger effect.Our study shows that low education is an independent predictor of accelerated biological (epigenetic) aging and that epigenetic clocks appear to be good candidates for disentangling the biological pathways underlying social inequalities in healthy aging and longevity.
Published: 2019

21. Magnesium uptake by Sphaerotilus natans: The inhibiting effect of ethanol

Author: Converti, A., Fiorito, G., Zilli, M., Lodi, A., Del Borghi, M., and Ferraiolo, G.
Published: 1992
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22. Simultaneous hydrolysis of tri- and tetrasaccharides by industrial mixtures of glucoamylase and α-amylase: kinetics and thermodynamics

Author: Converti, A., Fiorito, G., Del Borghi, M., and Ferraiolo, G.
Published: 1991
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23. In-situ ethanol recovery and substrate recycling during continuous alcohol fermentation

Author: Converti, A., Perego, P., Lodi, A., Fiorito, G., Del Borghi, M., and Ferraiolo, G.
Published: 1991
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24. Perturbation of metabolic pathways mediates the association of air pollutants with asthma and cardiovascular diseases

Author: Jeong, A., Fiorito, G., Keski-Rahkonen, P., Imboden, M., Kiss, A., Robinot, N., Gmuender, H., Vlaanderen, J., Vermeulen, R., Kyrtopoulos, S., Herceg, Z., Ghantous, A., Lovison, G., Galassi, C., Ranzi, A., Krogh, V., Grioni, S., Agnoli, C., Sacerdote, C., Mostafavi, N., Naccarati, A., Scalbert, A., Vineis, P., Probst-Hensch, N., One Health Chemisch, dIRAS RA-2, One Health Chemisch, dIRAS RA-2, Jeong, Ayoung, Fiorito, Giovanni, Keski-Rahkonen, Pekka, Imboden, Medea, Kiss, Agneta, Robinot, Nivonirina, Gmuender, Han, Vlaanderen, Jelle, Vermeulen, Roel, Kyrtopoulos, Soterio, Herceg, Zdenko, Ghantous, Akram, Lovison, Gianfranco, Galassi, Claudia, Ranzi, Andrea, Krogh, Vittorio, Grioni, Sara, Agnoli, Claudia, Sacerdote, Carlotta, Mostafavi, Nahid, Naccarati, Alessio, Scalbert, Augustin, Vineis, Paolo, and Probst-Hensch, Nicole
Subjects: Air pollution Untargeted metabolomics Metabolic pathways Adult-onset asthma Cardio-cerebrovascular diseases, 0301 basic medicine, Chronic exposure, Adult, Air pollution exposure, Air pollution, 010501 environmental sciences, medicine.disease_cause, 01 natural sciences, Settore MED/01 - Statistica Medica, 03 medical and health sciences, Air pollutants, MD Multidisciplinary, medicine, Humans, 0105 earth and related environmental sciences, General Environmental Science, Asthma, Cardio-cerebrovascular diseases, Air Pollutants, Untargeted metabolomics, Odds ratio, Environmental Exposure, medicine.disease, Metabolic pathway, 030104 developmental biology, Metabolic pathways, Cardiovascular Diseases, Case-Control Studies, Immunology, EXPOsOMICS Consortium, Environmental Sciences, Metabolic Networks and Pathways, Adult-onset asthma
Abstract: Background: Epidemiologic evidence indicates common risk factors, including air pollution exposure, for respiratory and cardiovascular diseases, suggesting the involvement of common altered molecular pathways. Objectives: The goal was to find intermediate metabolites or metabolic pathways that could be associated with both air pollutants and health outcomes (“meeting-in-the-middle”), thus shedding light on mechanisms and reinforcing causality. Methods: We applied a statistical approach named ‘meet-in-the-middle’ to untargeted metabolomics in two independent case-control studies nested in cohorts on adult-onset asthma (AOA) and cardio-cerebrovascular diseases (CCVD). We compared the results to identify both common and disease-specific altered metabolic pathways. Results: A novel finding was a strong association of AOA with ultrafine particles (UFP; odds ratio 1.80 [1.26, 2.55] per increase by 5000 particles/cm3). Further, we have identified several metabolic pathways that potentially mediate the effect of air pollution on health outcomes. Among those, perturbation of Linoleate metabolism pathway was associated with air pollution exposure, AOA and CCVD. Conclusions: Our results suggest common pathway perturbations may occur as a consequence of chronic exposure to air pollution leading to increased risk for both AOA and CCVD.
Published: 2018

25. An epigenome-wide association study meta-analysis of educational attainment

Author: Karlsson Linnér, R, Marioni, R E, Rietveld, C A, Simpkin, A J, Davies, N M, Watanabe, K, Armstrong, N J, Auro, K, Baumbach, C, Bonder, M J, Buchwald, J, Fiorito, G, Ismail, K, Iurato, S, Joensuu, A, Karell, P, Kasela, S, Lahti, J, McRae, A F, Mandaviya, P R, Seppälä, I, Wang, Y, Baglietto, L, Binder, E B, Harris, S E, Hodge, A M, Horvath, S, Hurme, M, Johannesson, M, Latvala, A, Mather, K A, Medland, S E, Metspalu, A, Milani, L, Milne, R L, Pattie, A, Pedersen, N L, Peters, A, Polidoro, S, Räikkönen, K, Severi, G, Starr, J M, Stolk, L, Waldenberger, M, Eriksson, J G, Esko, T, Franke, L, Gieger, C, Relton, C, Davey Smith, G, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Department of Health and Life Sciences, and Stem Cell Aging Leukemia and Lymphoma (SALL)
Subjects: EPIGENETIC CLOCK, AGE, STRESS, TISSUE, MORTALITY, PATTERNS, SOCIOECONOMIC-STATUS, MATERNAL SMOKING, EXPOSURE, DNA METHYLATION
Abstract: The epigenome is associated with biological factors, such as disease status, and environmental factors, such as smoking, alcohol consumption and body mass index. Although there is a widespread perception that environmental influences on the epigenome are pervasive and profound, there has been little evidence to date in humans with respect to environmental factors that are biologically distal. Here we provide evidence on the associations between epigenetic modifications-in our case, CpG methylation-and educational attainment (EA), a biologically distal environmental factor that is arguably among the most important life-shaping experiences for individuals. Specifically, we report the results of an epigenome-wide association study meta-analysis of EA based on data from 27 cohort studies with a total of 10 767 individuals. We find nine CpG probes significantly associated with EA. However, robustness analyses show that all nine probes have previously been found to be associated with smoking. Only two associations remain when we perform a sensitivity analysis in the subset of never-smokers, and these two probes are known to be strongly associated with maternal smoking during pregnancy, and thus their association with EA could be due to correlation between EA and maternal smoking. Moreover, the effect sizes of the associations with EA are far smaller than the known associations with the biologically proximal environmental factors alcohol consumption, body mass index, smoking and maternal smoking during pregnancy. Follow-up analyses that combine the effects of many probes also point to small methylation associations with EA that are highly correlated with the combined effects of smoking. If our findings regarding EA can be generalized to other biologically distal environmental factors, then they cast doubt on the hypothesis that such factors have large effects on the epigenome.Molecular Psychiatry advance online publication, 31 October 2017; doi:10.1038/mp.2017.210.
Published: 2017

26. Perturbation of metabolic pathways mediates the association of air pollutants with asthma and cardiovascular diseases

Author: One Health Chemisch, dIRAS RA-2, Jeong, A., Fiorito, G., Keski-Rahkonen, P., Imboden, M., Kiss, A., Robinot, N., Gmuender, H., Vlaanderen, J., Vermeulen, R., Kyrtopoulos, S., Herceg, Z., Ghantous, A., Lovison, G., Galassi, C., Ranzi, A., Krogh, V., Grioni, S., Agnoli, C., Sacerdote, C., Mostafavi, N., Naccarati, A., Scalbert, A., Vineis, P., Probst-Hensch, N., EXPOsOMICS consortium‡, One Health Chemisch, dIRAS RA-2, Jeong, A., Fiorito, G., Keski-Rahkonen, P., Imboden, M., Kiss, A., Robinot, N., Gmuender, H., Vlaanderen, J., Vermeulen, R., Kyrtopoulos, S., Herceg, Z., Ghantous, A., Lovison, G., Galassi, C., Ranzi, A., Krogh, V., Grioni, S., Agnoli, C., Sacerdote, C., Mostafavi, N., Naccarati, A., Scalbert, A., Vineis, P., Probst-Hensch, N., and EXPOsOMICS consortium‡
Published: 2018

27. Epigenetic supersimilarity of monozygotic twin pairs

Author: Van Baak, TE, Coarfa, C, Dugue, P-A, Fiorito, G, Laritsky, E, Baker, MS, Kessler, NJ, Dong, J, Duryea, JD, Silver, MJ, Saffari, A, Prentice, AM, Moore, SE, Ghantous, A, Routledge, MN, Gong, YY, Herceg, Z, Vineis, P, Severi, G, Hopper, JL, Southey, MC, Giles, GG, Milne, RL, Waterland, RA, Van Baak, TE, Coarfa, C, Dugue, P-A, Fiorito, G, Laritsky, E, Baker, MS, Kessler, NJ, Dong, J, Duryea, JD, Silver, MJ, Saffari, A, Prentice, AM, Moore, SE, Ghantous, A, Routledge, MN, Gong, YY, Herceg, Z, Vineis, P, Severi, G, Hopper, JL, Southey, MC, Giles, GG, Milne, RL, and Waterland, RA
Abstract: BACKGROUND: Monozygotic twins have long been studied to estimate heritability and explore epigenetic influences on phenotypic variation. The phenotypic and epigenetic similarities of monozygotic twins have been assumed to be largely due to their genetic identity. RESULTS: Here, by analyzing data from a genome-scale study of DNA methylation in monozygotic and dizygotic twins, we identified genomic regions at which the epigenetic similarity of monozygotic twins is substantially greater than can be explained by their genetic identity. This "epigenetic supersimilarity" apparently results from locus-specific establishment of epigenotype prior to embryo cleavage during twinning. Epigenetically supersimilar loci exhibit systemic interindividual epigenetic variation and plasticity to periconceptional environment and are enriched in sub-telomeric regions. In case-control studies nested in a prospective cohort, blood DNA methylation at these loci years before diagnosis is associated with risk of developing several types of cancer. CONCLUSIONS: These results establish a link between early embryonic epigenetic development and adult disease. More broadly, epigenetic supersimilarity is a previously unrecognized phenomenon that may contribute to the phenotypic similarity of monozygotic twins.
Published: 2018

28. Low socioeconomic status and unhealthy lifestyle habits are associated with premature occurrence of stochastic epigenetic mutations: A meta-analysis within the LIFEPATH project

Author: Fiorito, G., primary and Vineis, P., additional
Published: 2018
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29. Prey-handling behaviour of Octopus vulgaris (Mollusca, Cephalopoda) on Bivalve preys

Author: Fiorito, G and Gherardi, F
Published: 1999
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30. Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity

Author: Wahl, S. (Simone), Drong, A. (Alexander), Lehne, B. (Benjamin), Loh, M. (Marie), Scott, W.R. (William R.), Kunze, S. (Sonja), Tsai, P.-C. (Pei-Chien), Ried, J.S. (Janina S.), Zhang, W. (Weihua), Yang, Y. (Youwen), Tan, S. (Sili), Fiorito, G. (Giovanni), Franke, L. (Lude), Guarrera, S. (Simonetta), Kasela, S. (Silva), Kriebel, J. (Jennifer), Richmond, R.C. (Rebecca C.), Adamo, M. (Marco), Afzal, U. (Uzma), Ala-Korpela, M. (Mika), Albetti, B. (Benedetta), Ammerpohl, O. (Ole), Apperley, J. (Jane), Beekman, M. (Marian), Bertazzi, P.A. (Pier Alberto), Black, S.L. (S. Lucas), Blancher, C. (Christine), Bonder, M.J. (Marc), Brosch, M. (Mario), Carstensen-Kirberg, M. (Maren), Craen, A.J. (Anton) de, Lusignan, S. (Simon) de, Dehghan, A. (Abbas), Elkalaawy, M. (Mohamed), Fischer, K. (Krista), Franco, O.H. (Oscar), Gaunt, T.R. (Tom), Hampe, J. (Jochen), Hashemi, M. (Majid), Isaacs, A.J. (Aaron), Jenkinson, A. (Andrew), Jha, S. (Sujeet), Kato, N. (Norihiro), Krogh, V. (Vittorio), Laffan, M. (Michael), Meisinger, C. (Christa), Meitinger, T. (Thomas), Mok, Z.Y. (Zuan Yu), Motta, V. (Valeria), Ng, H.K. (Hong Kiat), Nikolakopoulou, Z. (Zacharoula), Nteliopoulos, G. (Georgios), Panico, S. (Salvatore), Pervjakova, N. (Natalia), Prokisch, H. (Holger), Rathmann, W. (Wolfgang), Roden, M. (Michael), Rota, F. (Federica), Rozario, M.A. (Michelle Ann), Sandling, J.K. (Johanna), Schafmayer, C. (Clemens), Schramm, K. (Katharina), Siebert, R. (Reiner), Slagboom, P.E. (Eline), Soininen, P. (Pasi), Stolk, L. (Lisette), Strauch, K. (Konstantin), Tai, E.S. (Shyong), Tarantini, L. (Letizia), Thorand, B. (Barbara), Tigchelaar, E.F. (Ettje F.), Tumino, R. (Rosario), Uitterlinden, A.G. (André), Duijn, C.M. (Cornelia) van, Meurs, J.B.J. (Joyce) van, Vineis, P. (Paolo), Wickremasinghe, A.R. (Ananda), Wijmenga, C. (Cisca), Yang, T.-P. (Tsun-Po), Yuan, W. (Wei), Zhernakova, A. (Alexandra), Batterham, R.L., Smith, A.V. (Davey), Deloukas, P. (Panos), Heijmans, B.T. (Bastiaan T.), Herder, C. (Christian), Hofman, A. (Albert), Lindgren, C.M. (Cecilia M.), Milani, L. (Lili), Harst, P. (Pim) van der, Peters, A. (Annette), Illig, T. (Thomas), Relton, C.L. (Caroline), Waldenberger, M. (Melanie), Jarvelin, M.-R. (Marjo-Riitta), Bollati, V. (Valentina), Soong, R. (Richie), Spector, T.D. (Timothy), Scott, J. (James), McCarthy, M.I. (Mark), Elliott, P. (Paul), Bell, J.T. (Jordana T.), Matullo, G., Gieger, C. (Christian), Kooner, J.S. (Jaspal S.), Grallert, H. (Harald), Chambers, J.C. (John C.), Wahl, S. (Simone), Drong, A. (Alexander), Lehne, B. (Benjamin), Loh, M. (Marie), Scott, W.R. (William R.), Kunze, S. (Sonja), Tsai, P.-C. (Pei-Chien), Ried, J.S. (Janina S.), Zhang, W. (Weihua), Yang, Y. (Youwen), Tan, S. (Sili), Fiorito, G. (Giovanni), Franke, L. (Lude), Guarrera, S. (Simonetta), Kasela, S. (Silva), Kriebel, J. (Jennifer), Richmond, R.C. (Rebecca C.), Adamo, M. (Marco), Afzal, U. (Uzma), Ala-Korpela, M. (Mika), Albetti, B. (Benedetta), Ammerpohl, O. (Ole), Apperley, J. (Jane), Beekman, M. (Marian), Bertazzi, P.A. (Pier Alberto), Black, S.L. (S. Lucas), Blancher, C. (Christine), Bonder, M.J. (Marc), Brosch, M. (Mario), Carstensen-Kirberg, M. (Maren), Craen, A.J. (Anton) de, Lusignan, S. (Simon) de, Dehghan, A. (Abbas), Elkalaawy, M. (Mohamed), Fischer, K. (Krista), Franco, O.H. (Oscar), Gaunt, T.R. (Tom), Hampe, J. (Jochen), Hashemi, M. (Majid), Isaacs, A.J. (Aaron), Jenkinson, A. (Andrew), Jha, S. (Sujeet), Kato, N. (Norihiro), Krogh, V. (Vittorio), Laffan, M. (Michael), Meisinger, C. (Christa), Meitinger, T. (Thomas), Mok, Z.Y. (Zuan Yu), Motta, V. (Valeria), Ng, H.K. (Hong Kiat), Nikolakopoulou, Z. (Zacharoula), Nteliopoulos, G. (Georgios), Panico, S. (Salvatore), Pervjakova, N. (Natalia), Prokisch, H. (Holger), Rathmann, W. (Wolfgang), Roden, M. (Michael), Rota, F. (Federica), Rozario, M.A. (Michelle Ann), Sandling, J.K. (Johanna), Schafmayer, C. (Clemens), Schramm, K. (Katharina), Siebert, R. (Reiner), Slagboom, P.E. (Eline), Soininen, P. (Pasi), Stolk, L. (Lisette), Strauch, K. (Konstantin), Tai, E.S. (Shyong), Tarantini, L. (Letizia), Thorand, B. (Barbara), Tigchelaar, E.F. (Ettje F.), Tumino, R. (Rosario), Uitterlinden, A.G. (André), Duijn, C.M. (Cornelia) van, Meurs, J.B.J. (Joyce) van, Vineis, P. (Paolo), Wickremasinghe, A.R. (Ananda), Wijmenga, C. (Cisca), Yang, T.-P. (Tsun-Po), Yuan, W. (Wei), Zhernakova, A. (Alexandra), Batterham, R.L., Smith, A.V. (Davey), Deloukas, P. (Panos), Heijmans, B.T. (Bastiaan T.), Herder, C. (Christian), Hofman, A. (Albert), Lindgren, C.M. (Cecilia M.), Milani, L. (Lili), Harst, P. (Pim) van der, Peters, A. (Annette), Illig, T. (Thomas), Relton, C.L. (Caroline), Waldenberger, M. (Melanie), Jarvelin, M.-R. (Marjo-Riitta), Bollati, V. (Valentina), Soong, R. (Richie), Spector, T.D. (Timothy), Scott, J. (James), McCarthy, M.I. (Mark), Elliott, P. (Paul), Bell, J.T. (Jordana T.), Matullo, G., Gieger, C. (Christian), Kooner, J.S. (Jaspal S.), Grallert, H. (Harald), and Chambers, J.C. (John C.)
Abstract: Approximately 1.5 billion people worldwide are overweight or affected by obesity, and are at risk of developing type 2 diabetes, cardiovascular disease and related metabolic and inflammatory disturbances. Although the mechanisms linking adiposity to associated clinical conditions are poorly understood, recent studies suggest that adiposity may influence DNA methylation, a key regulator of gene expression and molecular phenotype. Here we use epigenome-wide association to show that body mass index (BMI; a key measure of adiposity) is associated with widespread changes in DNA methylation (187 genetic loci with P < 1 × 10 -7, range P = 9.2 × 10 -8 to 6.0 × 10 -46; n = 10,261 samples). Genetic association analyses demonstrate that the alterations in DNA methylation are predominantly the consequence of adiposity, rather than the cause. We find that methylation loci are enriched for functional genomic features in multiple tissues (P < 0.05), and show that sentinel methylation markers identify gene expression signatures at 38 loci (P < 9.0 × 10 -6, range P = 5.5 × 10 -6 to 6.1 × 10 -35, n = 1,785 samples). The methylation loci identify genes involved in lipid and lipoprotein metabolism, substrate transport and inflammatory pathways. Finally, we show that the disturbances in DNA methylation predict future development of type 2 diabetes (relative risk per 1 standard deviation increase in methylation risk score: 2.3 (2.07-2.56); P = 1.1 × 10 -54). Our results provide new insights into the biologic pathways influenc
Published: 2017
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31. An epigenome-wide association study meta-analysis of educational attainment

Author: Karlsson Linnér, R., Marioni, R.E., Rietveld, C.A., Simpkin, A.J., Davies, N.M., Watanabe, K., Armstrong, N.J., Auro, K., Baumbach, C., Bonder, M.J., Buchwald, J., Fiorito, G., Ismail, K., Iurato, S., Joensuu, A., Karell, P., Kasela, S., Lahti, J., McRae, A.F., Mandaviya, P.R., Seppälä, I., Wang, Y., Baglietto, L., Binder, E.B., Harris, S.E., Hodge, A.M., Horvath, S., Hurme, M., Johannesson, M., Latvala, A., Mather, K.A., Medland, S.E., Metspalu, A., Milani, L., Milne, R.L., Pattie, A., Pedersen, N.L., Peters, A., Polidoro, S., Räikkönen, K., Severi, G., Starr, J.M., Stolk, L., Waldenberger, M., Eriksson, J.G., Esko, T., Franke, L., Gieger, C., Giles, G.G., Hägg, S., Jousilahti, P., Kaprio, J., Kähönen, M., Lehtimäki, T., Martin, N.G., van Meurs, J.B.C., Ollikainen, M., Perola, M., Posthuma, D., Raitakari, O.T., Sachdev, P.S., Taskesen, E., Uitterlinden, A.G., Vineis, P., Wijmenga, C., Wright, M.J., Relton, C., Davey Smith, G., Deary, I.J., Koellinger, P.D., Benjamin, D.J., Karlsson Linnér, R., Marioni, R.E., Rietveld, C.A., Simpkin, A.J., Davies, N.M., Watanabe, K., Armstrong, N.J., Auro, K., Baumbach, C., Bonder, M.J., Buchwald, J., Fiorito, G., Ismail, K., Iurato, S., Joensuu, A., Karell, P., Kasela, S., Lahti, J., McRae, A.F., Mandaviya, P.R., Seppälä, I., Wang, Y., Baglietto, L., Binder, E.B., Harris, S.E., Hodge, A.M., Horvath, S., Hurme, M., Johannesson, M., Latvala, A., Mather, K.A., Medland, S.E., Metspalu, A., Milani, L., Milne, R.L., Pattie, A., Pedersen, N.L., Peters, A., Polidoro, S., Räikkönen, K., Severi, G., Starr, J.M., Stolk, L., Waldenberger, M., Eriksson, J.G., Esko, T., Franke, L., Gieger, C., Giles, G.G., Hägg, S., Jousilahti, P., Kaprio, J., Kähönen, M., Lehtimäki, T., Martin, N.G., van Meurs, J.B.C., Ollikainen, M., Perola, M., Posthuma, D., Raitakari, O.T., Sachdev, P.S., Taskesen, E., Uitterlinden, A.G., Vineis, P., Wijmenga, C., Wright, M.J., Relton, C., Davey Smith, G., Deary, I.J., Koellinger, P.D., and Benjamin, D.J.
Abstract: The epigenome is associated with biological factors, such as disease status, and environmental factors, such as smoking, alcohol consumption and body mass index. Although there is a widespread perception that environmental influences on the epigenome are pervasive and profound, there has been little evidence to date in humans with respect to environmental factors that are biologically distal. Here we provide evidence on the associations between epigenetic modifications—in our case, CpG methylation—and educational attainment (EA), a biologically distal environmental factor that is arguably among the most important life-shaping experiences for individuals. Specifically, we report the results of an epigenome-wide association study meta-analysis of EA based on data from 27 cohort studies with a total of 10 767 individuals. We find nine CpG probes significantly associated with EA. However, robustness analyses show that all nine probes have previously been found to be associated with smoking. Only two associations remain when we perform a sensitivity analysis in the subset of never-smokers, and these two probes are known to be strongly associated with maternal smoking during pregnancy, and thus their association with EA could be due to correlation between EA and maternal smoking. Moreover, the effect sizes of the associations with EA are far smaller than the known associations with the biologically proximal environmental factors alcohol consumption, body mass index, smoking and maternal smoking during pregnancy. Follow-up analyses that combine the effects of many probes also point to small methylation associations with EA that are highly correlated with the combined effects of smoking. If our findings regarding EA can be generalized to other biologically distal environmental factors, then they cast doubt on the hypothesis that such factors have large effects on the epigenome.
Published: 2017

32. An epigenome-wide association study meta-analysis of educational attainment

Author: Karlsson Linnér, R. (R.), Marioni, R.E. (Riccardo), Rietveld, C.A. (Niels), Simpkin, A.J. (A. J.), Davies, N.M. (N. M.), Watanabe, K. (K.), Armstrong, N.J. (Nicola J.), Auro, K. (Kirsi), Baumbach, C. (Clemens), Bonder, M.J. (Marc), Buchwald, J. (J.), Fiorito, G. (G.), Ismail, K. (K.), Iurato, S. (S.), Joensuu, A. (Anni), Karell, P. (P.), Kasela, S. (Silva), Lahti, J. (Jari), McRae, A.F. (A. F.), Mandaviya, P.R. (Pooja), Seppälä, I. (Ilkka), Wang, Y. (Y.), Baglietto, L. (L.), Binder, E.B. (Elisabeth), Harris, S.E. (Sarah), Hodge, A.M. (A. M.), Horvath, S. (S.), Hurme, M. (M.), Johannesson, M. (Magnus), Latvala, A. (Antti), Mather, R., Medland, S.E. (Sarah), Metspalu, A. (A.), Milani, L. (Lili), Milne, R.L. (R. L.), Pattie, A. (Alison), Pedersen, N.L. (Nancy), Peters, A. (Annette), Polidoro, S. (Silvia), Räikkönen, K. (Katri), Severi, G. (Gianluca), Starr, J.M. (John), Stolk, L. (Lisette), Waldenberger, M. (M.), Hagen, K. (Knut), Esko, T. (Tõnu), Franke, L. (Lude), Gieger, C. (Christian), Giles, G.G. (G. G.), Hägg, S. (Sara), Jousilahti, P. (Pekka), Kaprio, J. (Jaakko), Kähönen, M. (Mika), Lehtimäki, T. (Terho), Martin, N.G. (N. G.), Meurs, J. (J.) van, Ollikainen, M. (M.), Perola, M. (M.), Posthuma, D. (Danielle), Raitakari, O.T. (O. T.), Sachdev, P.S. (Perminder), Taskesen, E. (Erdogan), Uitterlinden, A.G. (André), Vineis, P. (Paolo), Wijmenga, C. (Ciska), Wright, M.J. (M. J.), Relton, C.L. (Caroline), Davey Smith, G. (G.), Deary, I.J. (Ian), Koellinger, P.D. (P. D.), Benjamin, D.J. (D. J.), Karlsson Linnér, R. (R.), Marioni, R.E. (Riccardo), Rietveld, C.A. (Niels), Simpkin, A.J. (A. J.), Davies, N.M. (N. M.), Watanabe, K. (K.), Armstrong, N.J. (Nicola J.), Auro, K. (Kirsi), Baumbach, C. (Clemens), Bonder, M.J. (Marc), Buchwald, J. (J.), Fiorito, G. (G.), Ismail, K. (K.), Iurato, S. (S.), Joensuu, A. (Anni), Karell, P. (P.), Kasela, S. (Silva), Lahti, J. (Jari), McRae, A.F. (A. F.), Mandaviya, P.R. (Pooja), Seppälä, I. (Ilkka), Wang, Y. (Y.), Baglietto, L. (L.), Binder, E.B. (Elisabeth), Harris, S.E. (Sarah), Hodge, A.M. (A. M.), Horvath, S. (S.), Hurme, M. (M.), Johannesson, M. (Magnus), Latvala, A. (Antti), Mather, R., Medland, S.E. (Sarah), Metspalu, A. (A.), Milani, L. (Lili), Milne, R.L. (R. L.), Pattie, A. (Alison), Pedersen, N.L. (Nancy), Peters, A. (Annette), Polidoro, S. (Silvia), Räikkönen, K. (Katri), Severi, G. (Gianluca), Starr, J.M. (John), Stolk, L. (Lisette), Waldenberger, M. (M.), Hagen, K. (Knut), Esko, T. (Tõnu), Franke, L. (Lude), Gieger, C. (Christian), Giles, G.G. (G. G.), Hägg, S. (Sara), Jousilahti, P. (Pekka), Kaprio, J. (Jaakko), Kähönen, M. (Mika), Lehtimäki, T. (Terho), Martin, N.G. (N. G.), Meurs, J. (J.) van, Ollikainen, M. (M.), Perola, M. (M.), Posthuma, D. (Danielle), Raitakari, O.T. (O. T.), Sachdev, P.S. (Perminder), Taskesen, E. (Erdogan), Uitterlinden, A.G. (André), Vineis, P. (Paolo), Wijmenga, C. (Ciska), Wright, M.J. (M. J.), Relton, C.L. (Caroline), Davey Smith, G. (G.), Deary, I.J. (Ian), Koellinger, P.D. (P. D.), and Benjamin, D.J. (D. J.)
Abstract: The epigenome is associated with biological factors, such as disease status, and environmental factors, such as smoking, alcohol consumption and body mass index. Although there is a widespread perception that environmental influences on the epigenome are pervasive and profound, there has been little evidence to date in humans with respect to environmental factors that are biologically distal. Here we provide evidence on the associations between epigenetic modifications - in our case, CpG methylation - and educational attainment (EA), a biologically distal environmental factor that is arguably among the most important life-shaping experiences for individuals. Specifically, we report the results of an epigenome-wide association study meta-analysis of EA based on data from 27 cohort studies with a total of 10 767 individuals. We find nine CpG probes significantly associated with EA. However, robustness analyses show that all nine probes have previously been found to be associated with smoking. Only two associations remain when we perform a sensitivity analysis in the subset of never-smokers, and these two probes are known to be strongly associated with maternal smoking during pregnancy, and thus their association with EA could be due to correlation between EA and maternal smoking. Moreover, the effect sizes of the associations with EA are far smaller than the known associations with the biologically proximal environmental factors alcohol consumption, body mass index, smoking and maternal smoking during pregnancy. Follow-up analyses that combine the effects of many probes also point to small methylation associations with EA that are highly correlated with the combined effects of smoking. If our findings regarding EA can be generalized to other biologically distal environmental factors, then they cast doubt on the hypothesis that such factors have large effects on the epigenome.
Published: 2017
Full Text: View/download PDF

33. An epigenome-wide association study meta-analysis of educational attainment

Author: Linner, RK, Marioni, RE, Rietveld, Niels, Simpkin, AJ, Davies, NM, Watanabe, K, Armstrong, NJ, Auro, K, Baumbach, C, Bonder, MJ, Buchwald, J, Fiorito, G, Ismail, K, Iurato, S, Joensuu, A, Karell, P, Kasela, S, Lahti, J, Mcrae, AF, Mandaviya, Pooja, Seppala, I, Wang, Y, Baglietto, L, Binder, EB, Harris, SE, Hodge, AM, Horvath, S, Hurme, M, Johannesson, M, Latvala, A, Mather, KA, Medland, SE, Metspalu, A, Milani, L, Milne, RL, Pattie, A, Pedersen, NL, Peters, A, Polidoro, S, Raikkonen, K, Severi, G, Starr, JM, Stolk, Lisette, Waldenberger, M, Eriksson, JG, Esko, T, Franke, L, Gieger, C, Giles, GG, Hagg, S, Jousilahti, P, Kaprio, J, Kahonen, M, Lehtimaki, T, Martin, NG, van Meurs, Joyce, Ollikainen, M, Perola, M, Posthuma, D, Raitakari, OT, Sachdev, PS, Taskesen, E, Uitterlinden, André, Vineis, P, Wijmenga, C, Wright, MJ, Relton, C, Smith, GD, Deary, IJ, Koellinger, PD, Benjamin, DJ, Linner, RK, Marioni, RE, Rietveld, Niels, Simpkin, AJ, Davies, NM, Watanabe, K, Armstrong, NJ, Auro, K, Baumbach, C, Bonder, MJ, Buchwald, J, Fiorito, G, Ismail, K, Iurato, S, Joensuu, A, Karell, P, Kasela, S, Lahti, J, Mcrae, AF, Mandaviya, Pooja, Seppala, I, Wang, Y, Baglietto, L, Binder, EB, Harris, SE, Hodge, AM, Horvath, S, Hurme, M, Johannesson, M, Latvala, A, Mather, KA, Medland, SE, Metspalu, A, Milani, L, Milne, RL, Pattie, A, Pedersen, NL, Peters, A, Polidoro, S, Raikkonen, K, Severi, G, Starr, JM, Stolk, Lisette, Waldenberger, M, Eriksson, JG, Esko, T, Franke, L, Gieger, C, Giles, GG, Hagg, S, Jousilahti, P, Kaprio, J, Kahonen, M, Lehtimaki, T, Martin, NG, van Meurs, Joyce, Ollikainen, M, Perola, M, Posthuma, D, Raitakari, OT, Sachdev, PS, Taskesen, E, Uitterlinden, André, Vineis, P, Wijmenga, C, Wright, MJ, Relton, C, Smith, GD, Deary, IJ, Koellinger, PD, and Benjamin, DJ
Abstract: The epigenome is associated with biological factors, such as disease status, and environmental factors, such as smoking, alcohol consumption and body mass index. Although there is a widespread perception that environmental influences on the epigenome are pervasive and profound, there has been little evidence to date in humans with respect to environmental factors that are biologically distal. Here we provide evidence on the associations between epigenetic modifications—in our case, CpG methylation—and educational attainment (EA), a biologically distal environmental factor that is arguably among the most important life-shaping experiences for individuals. Specifically, we report the results of an epigenome-wide association study meta-analysis of EA based on data from 27 cohort studies with a total of 10?767 individuals. We find nine CpG probes significantly associated with EA. However, robustness analyses show that all nine probes have previously been found to be associated with smoking. Only two associations remain when we perform a sensitivity analysis in the subset of never-smokers, and these two probes are known to be strongly associated with maternal smoking during pregnancy, and thus their association with EA could be due to correlation between EA and maternal smoking. Moreover, the effect sizes of the associations with EA are far smaller than the known associations with the biologically proximal environmental factors alcohol consumption, body mass index, smoking and maternal smoking during pregnancy. Follow-up analyses that combine the effects of many probes also point to small methylation associations with EA that are highly correlated with the combined effects of smoking. If our findings regarding EA can be generalized to other biologically distal environmental factors, then they cast doubt on the hypothesis that such factors have large effects on the epigenome.
Published: 2017

34. PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study

Author: Schmidt, AF, Swerdlow, DI, Holmes, MV, Patel, RS, Fairhurst-Hunter, Z, Lyall, DM, Hartwig, FP, Horta, BL, Hypponen, E, Power, C, Moldovan, M, van Iperen, E, Hovingh, GK, Demuth, I, Norman, K, Steinhagen-Thiessen, E, Demuth, J, Bertram, L, Liu, T, Coassin, S, Willeit, J, Kiechl, S, Willeit, K, Mason, D, Wright, J, Morris, R, Wanamethee, G, Whincup, P, Ben-Shlomo, Y, McLachlan, S, Price, JF, Kivimaki, M, Welch, C, Sanchez-Galvez, A, Marques-Vidal, P, Nicolaides, A, Panayiotou, AG, Onland-Moret, NC, van der Schouw, YT, Matullo, G, Fiorito, G, Guarrera, S, Sacerdote, C, Wareham, NJ, Langenberg, C, Scott, R, Luan, JA, Bobak, M, Malyutina, SA, Pajak, A, Kubinova, R, Tamosiunas, A, Pikhart, H, Husemoen, LLN, Grarup, N, Pedersen, O, Hansen, T, Linneberg, A, Simonsen, KS, Cooper, J, Humphries, SE, Brilliant, M, Kitchner, T, Hakonarson, H, Carrell, DS, McCarty, CA, Kirchner, HL, Larson, EB, Crosslin, DR, de Andrade, M, Roden, DM, Denny, JC, Carty, C, Hancock, S, Attia, J, Holliday, E, Donnell, MO, Yusuf, S, Chong, M, Pare, G, van der Harst, P, Said, MA, Eppinga, RN, Verweij, N, Snieder, H, Christen, T, Mook-Kanamori, DO, Gustafsson, S, Lind, L, Ingelsson, E, Pazoki, Raha, Franco Duran, OH, Hofman, Bert, Uitterlinden, André, Dehghan, Abbas, Teumer, A, Baumeister, S, Dorr, M, Lerch, MM, Volker, U, Volzke, H, Ward, J, Pell, JP, Smith, Derek, Meade, T, Zee, AH, Baranova, EV, Young, R, Ford, I, Campbell, A (Archie), Padmanabhan, S, Bots, ML, Grobbee, DE, Froguel, P, Thuillier, D, Balkau, B, Bonnefond, A, Cariou, B, Smart, M, Bao, Y, Kumari, M, Mahajan, A, Ridker, PM, Chasman, DI, Reiner, AP, Lange, LA, Ritchie, MD, Asselbergs, FW, Casas, JP, Keating, BJ, Preiss, D, Hingorani, AD, Sattar, N, Schmidt, AF, Swerdlow, DI, Holmes, MV, Patel, RS, Fairhurst-Hunter, Z, Lyall, DM, Hartwig, FP, Horta, BL, Hypponen, E, Power, C, Moldovan, M, van Iperen, E, Hovingh, GK, Demuth, I, Norman, K, Steinhagen-Thiessen, E, Demuth, J, Bertram, L, Liu, T, Coassin, S, Willeit, J, Kiechl, S, Willeit, K, Mason, D, Wright, J, Morris, R, Wanamethee, G, Whincup, P, Ben-Shlomo, Y, McLachlan, S, Price, JF, Kivimaki, M, Welch, C, Sanchez-Galvez, A, Marques-Vidal, P, Nicolaides, A, Panayiotou, AG, Onland-Moret, NC, van der Schouw, YT, Matullo, G, Fiorito, G, Guarrera, S, Sacerdote, C, Wareham, NJ, Langenberg, C, Scott, R, Luan, JA, Bobak, M, Malyutina, SA, Pajak, A, Kubinova, R, Tamosiunas, A, Pikhart, H, Husemoen, LLN, Grarup, N, Pedersen, O, Hansen, T, Linneberg, A, Simonsen, KS, Cooper, J, Humphries, SE, Brilliant, M, Kitchner, T, Hakonarson, H, Carrell, DS, McCarty, CA, Kirchner, HL, Larson, EB, Crosslin, DR, de Andrade, M, Roden, DM, Denny, JC, Carty, C, Hancock, S, Attia, J, Holliday, E, Donnell, MO, Yusuf, S, Chong, M, Pare, G, van der Harst, P, Said, MA, Eppinga, RN, Verweij, N, Snieder, H, Christen, T, Mook-Kanamori, DO, Gustafsson, S, Lind, L, Ingelsson, E, Pazoki, Raha, Franco Duran, OH, Hofman, Bert, Uitterlinden, André, Dehghan, Abbas, Teumer, A, Baumeister, S, Dorr, M, Lerch, MM, Volker, U, Volzke, H, Ward, J, Pell, JP, Smith, Derek, Meade, T, Zee, AH, Baranova, EV, Young, R, Ford, I, Campbell, A (Archie), Padmanabhan, S, Bots, ML, Grobbee, DE, Froguel, P, Thuillier, D, Balkau, B, Bonnefond, A, Cariou, B, Smart, M, Bao, Y, Kumari, M, Mahajan, A, Ridker, PM, Chasman, DI, Reiner, AP, Lange, LA, Ritchie, MD, Asselbergs, FW, Casas, JP, Keating, BJ, Preiss, D, Hingorani, AD, and Sattar, N
Published: 2017

35. Cephalopod biology and care, a COST FA1301 (CephsInAction) training school: anaesthesia and scientific procedures

Author: Lopes, Vanesa, Gambús, Guillermo, Martins, Catarina, Fiorito, G., Lopes, Vanesa, Gambús, Guillermo, Martins, Catarina, and Fiorito, G.
Abstract: Cephalopods are the sole invertebrates included in the list of regulated species following the Directive 2010/63/EU. According to the Directive, achieving competence through adequate training is a requisite for people having a role in the different functions (article 23) as such carrying out procedures on animals, designing procedures and projects, taking care of animals, killing animals. Cephalopod Biology and Care Training Program is specifically designed to comply with the requirements of the “working document on the development of a common education and training framework to fulfil the requirements under the Directive 2010/63/EU”. The training event occurred at the ICM-CSIC in Barcelona (Spain) where people coming from Europe, America and Asia were instructed on how to cope with regulations for the use of cephalopod molluscs for scientific purposes. The training encompasses discussion on the guidelines for the use and care of animals and their welfare with particular reference to procedures that may be of interest for neuroscience. Intensive discussion has been carried out during the training sessions with focus on behavioural studies and paradigms, welfare assessment, levels of severity of scientific procedures, animal care, handling, transport, individual identification and marking, substance administration, anaesthesia, analgesia and humane killing
Published: 2017

36. Cephalopods as Predators: A Short Journey among Behavioral Flexibilities, Adaptions, and Feeding Habits

Author: European Cooperation in Science and Technology, Stazione Zoologica Anton Dohrn, Ministero dell'Istruzione, dell'Università e della Ricerca, Ministerio de Educación y Cultura (España), Ministerio de Economía y Competitividad (España), Villanueva, Roger, Perricone, Valentina, Fiorito, G., European Cooperation in Science and Technology, Stazione Zoologica Anton Dohrn, Ministero dell'Istruzione, dell'Università e della Ricerca, Ministerio de Educación y Cultura (España), Ministerio de Economía y Competitividad (España), Villanueva, Roger, Perricone, Valentina, and Fiorito, G.
Abstract: The diversity of cephalopod species and the differences in morphology and the habitats in which they live, illustrates the ability of this class of molluscs to adapt to all marine environments, demonstrating a wide spectrum of patterns to search, detect, select, capture, handle, and kill prey. Photo-, mechano-, and chemoreceptors provide tools for the acquisition of information about their potential preys. The use of vision to detect prey and high attack speed seem to be a predominant pattern in cephalopod species distributed in the photic zone, whereas in the deep-sea, the development of mechanoreceptor structures and the presence of long and filamentous arms are more abundant. Ambushing, luring, stalking and pursuit, speculative hunting and hunting in disguise, among others are known modes of hunting in cephalopods. Cannibalism and scavenger behavior is also known for some species and the development of current culture techniques offer evidence of their ability to feed on inert and artificial foods. Feeding requirements and prey choice change throughout development and in some species, strong ontogenetic changes in body form seem associated with changes in their diet and feeding strategies, although this is poorly understood in planktonic and larval stages. Feeding behavior is altered during senescence and particularly in brooding octopus females. Cephalopods are able to feed from a variety of food sources, from detritus to birds. Their particular requirements of lipids and copper may help to explain why marine crustaceans, rich in these components, are common prey in all cephalopod diets. The expected variation in climate change and ocean acidification and their effects on chemoreception and prey detection capacities in cephalopods are unknown and needs future research
Published: 2017

37. Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index

Author: Hoggart, C, Venturini, G, Mangino, M, Gomez, F, Ascari, G, Zhao, J, Teumer, A, Winkler, T, Tšernikova, N, Luan, J, Mihailov, E, Ehret, G, Zhang, W, Lamparter, D, Esko, T, Macé, A, Rüeger, S, Bochud, P, Barcella, M, Dauvilliers, Y, Benyamin, B, Evans, D, Hayward, C, Lopez, M, Franke, L, Russo, A, Heid, I, Salvi, E, Vendantam, S, Arking, D, Boerwinkle, E, Chambers, J, Fiorito, G, Grallert, H, Guarrera, S, Homuth, G, Huffman, J, Porteous, D, Berg, J, Blackwood, D, Campbell, H, Cavanagh, J, Connell, J, Connor, M, Cunningham Burley, S, Deary, I, Dominiczak, A, Ellis, P, Fitzpatrick, B, Ford, I, Gertz, R, Grau, A, Haddow, G, Jackson, C, Kerr, S, Lindsay, R, Mcgilchrist, M, Mcintyre, D, Morris, A, Morton, R, Muir, W, Murray, G, Palmer, C, Pell, J, Philp, A, Porteous, M, Procter, R, Ralston, S, Reid, D, Sinnott, R, Smith, B, St Clair, D, Sullivan, F, Sweetland, M, Ure, J, Watt, G, Wolf, R, Wright, A, de Bakker, P, Bültmann, U, Geleijnse, M, Harst, P, Koppelman, G, Rosmalen, J, van Rossum, L, Smidt, H, Swertz, M, Stolk, R, Alizadeh, B, de Boer, R, Boezen, H, Bruinenberg, M, van der Harst, P, Hillege, H, van der Klauw, M, Navis, G, Ormel, J, Postma, D, Slaets, J, Snieder, H, Wolffenbuttel, B, Wijmenga, C, Berndt, S, Gustafsson, S, Mägi, R, Ganna, A, Wheeler, E, Feitosa, M, Justice, A, Monda, K, Croteau Chonka, D, Day, F, Fall, T, Ferreira, T, Gentilini, D, Jackson, A, Randall, J, Vedantam, S, Willer, C, Wood, A, Workalemahu, T, Hu, Y, Lee, S, Liang, L, Lin, D, Min, J, Neale, B, Thorleifsson, G, Yang, J, Albrecht, E, Amin, N, Bragg Gresham, J, Cadby, G, den Heijer, M, Eklund, N, Fischer, K, Goel, A, Hottenga, J, Jarick, I, Johansson, A, Johnson, T, Kanoni, S, Kleber, M, König, I, Kristiansson, K, Kutalik, Z, Lamina, C, Lecoeur, C, Li, G, Mcardle, W, Medina Gomez, C, Müller Nurasyid, M, Ngwa, J, Nolte, I, Paternoster, L, Pechlivanis, S, Perola, M, Peters, M, Preuss, M, Rose, L, Shi, J, Shungin, D, Smith, A, Strawbridge, R, Surakka, I, Trip, M, Tyrer, J, Van Vliet Ostaptchouk, J, Vandenput, L, Waite, L, Absher, D, Asselbergs, F, Atalay, M, Attwood, A, Balmforth, A, Basart, H, Beilby, J, Bonnycastle, L, BRAMBILLA, PAOLO, Chasman, D, Chines, P, Collins, F, Cookson, W, de Faire, U, de Vegt, F, Dei, M, Dimitriou, M, Edkins, S, Estrada, K, Farrall, M, Ferrario, M, Ferrières, J, Frau, F, Gejman, P, Grönberg, H, Gudnason, V, Hall, A, Hall, P, Hartikainen, A, Heard Costa, N, Heath, A, Hebebrand, J, Hu, F, Hunt, S, Hyppönen, E, Iribarren, C, Jacobs, K, Jansson, J, Jula, A, Kähönen, M, Kathiresan, S, Kee, F, Khaw, K, Kivimaki, M, Koenig, W, Kraja, A, Kumari, M, Karikuulasmaa, N, Kuusisto, J, Laitinen, J, Lakka, T, Langenberg, C, Launer, L, Lind, L, Lindström, J, Liu, J, Liuzzi, A, Lokki, M, Lorentzon, M, Madden, P, Magnusson, P, Manunta, P, Marek, D, März, W, Leach, I, Mcknight, B, Medland, S, Milani, L, Montgomery, G, Mooser, V, Mühleisen, T, Munroe, P, Musk, A, Narisu, N, Nicholson, G, Nohr, E, Ong, K, Oostra, B, Palotie, A, Peden, J, Pedersen, N, Peters, A, Polasek, O, Pouta, A, Pramstaller, P, Prokopenko, I, Pütter, C, Radhakrishnan, A, Raitakari, O, Rendon, A, Rivadeneira, F, Rudan, I, Saaristo, T, Sambrook, J, Sanders, A, Sanna, S, Saramies, J, Schipf, S, Schreiber, S, Schunkert, H, Shin, S, Signorini, S, Sinisalo, J, Skrobek, B, Soranzo, N, Stancakova, A, Stark, K, Stephens, J, Stirrups, K, Stumvoll, M, Swift, A, Theodoraki, E, Thorand, B, Tregouet, D, Tremoli, E, Van der Klauw, M, van Meurs, J, Vermeulen, S, Viikari, J, Virtamo, J, Vitart, V, Waeber, G, Wang, Z, Widen, E, Wild, S, Willemsen, G, Winkelmann, B, Witteman, J, Wong, A, Zillikens, M, Amouyel, P, Boehm, B, Boomsma, D, Caulfield, M, Chanock, S, Cupples, L, Cusi, D, Dedoussis, G, Erdmann, J, Eriksson, J, Franks, P, Froguel, P, Gieger, C, Gyllensten, U, Hamsten, A, Harris, T, Hengstenberg, C, Hicks, A, Hingorani, A, Hinney, A, Hofman, A, Hovingh, K, Hveem, K, Illig, T, Jarvelin, M, Jöckel, K, Keinanen Kiukaanniemi, S, Kiemeney, L, Kuh, D, Laakso, M, Lehtimäki, T, Levinson, D, Martin, N, Metspalu, A, Nieminen, M, Njølstad, I, Ohlsson, C, Oldehinkel, A, Ouwehand, W, Palmer, L, Penninx, B, Power, C, Province, M, Psaty, B, Qi, L, Rauramaa, R, Ridker, P, Ripatti, S, Salomaa, V, Samani, N, Sørensen, T, Spector, T, Stefansson, K, Tönjes, A, Tuomilehto, J, Uitterlinden, A, Uusitupa, M, Vollenweider, P, Wallaschofski, H, Wareham, N, Watkins, H, Wichmann, H, Wilson, J, Abecasis, G, Assimes, T, Barroso, I, Boehnke, M, Borecki, I, Deloukas, P, Fox, C, Frayling, T, Groop, L, Haritunian, T, Hunter, D, Kaplan, R, Karpe, F, Miriammoffatt, N, Mohlke, K, O'Connell, J, Pawitan, Y, Schadt, E, Schlessinger, D, Steinthorsdottir, V, Strachan, D, Thorsteinsdottir, U, van Duijn, C, Visscher, P, Di Blasio, A, Hirschhorn, J, Lindgren, C, Meyre, D, Scherag, A, Mccarthy, M, Speliotes, E, North, K, Loos, R, Ingelsson, E, Moradpour, D, Iranzo, A, Kemp, J, Lammers, G, Aubert, V, Heim, M, Peraita Adrados, R, Santamaria, J, Negro, F, Schmidt, C, Scott, R, Strauch, K, Völzke, H, Yuan, W, Bell, J, Chakravarti, A, Kooner, J, Matullo, G, Whitfield, J, Paccaud, F, Bergmann, S, Beckmann, J, Tafti, M, Hastie, N, Bochud, M, Da Smith, G, Rousson, V, Rivolta, C, Kutalik, Z., Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Biological Psychology, EMGO+ - Lifestyle, Overweight and Diabetes, Hoggart, Clive J, Venturini, Giulia, Mangino, Massimo, Gomez, Felicia, Benyamin, Beben, Kutalik, Zoltan, Generation Scotland Consortium, GIANT Consortium, LifeLines Cohort study, Cardiology, Vascular Medicine, Plastic, Reconstructive and Hand Surgery, Amsterdam Cardiovascular Sciences, Medical Research Council (MRC), Psychiatry, EMGO - Lifestyle, overweight and diabetes, Haartman Institute (-2014), Transplantation Laboratory, Luan, Jian'an [0000-0003-3137-6337], Wareham, Nicholas [0000-0003-1422-2993], Apollo - University of Cambridge Repository, Hoggart, Cj, Venturini, G, Mangino, M, Gomez, F, Ascari, G, Zhao, Jh, Teumer, A, Winkler, Tw, Tšernikova, N, Luan, J, Mihailov, E, Ehret, Gb, Zhang, W, Lamparter, D, Esko, T, Macé, A, Rüeger, S, Bochud, Py, Barcella, M, Dauvilliers, Y, Benyamin, B, Evans, Dm, Hayward, C, Lopez, Mf, Franke, L, Russo, A, Heid, Im, Salvi, E, Vendantam, S, Arking, De, Boerwinkle, E, Chambers, Jc, Fiorito, G, Grallert, H, Guarrera, S, Homuth, G, Huffman, Je, Porteous, D, GENERATION SCOTLAND, Consortium, LIFELINES COHORT, Study, Giant, Consortium, Manunta, Paolo, Moradpour, D, Iranzo, A, Hebebrand, J, Kemp, Jp, Lammers, Gj, Aubert, V, Heim, Mh, Martin, Ng, Montgomery, Gw, PERAITA ADRADOS, R, Santamaria, J, Negro, F, Schmidt, Co, Scott, Ra, Spector, Td, Strauch, K, Völzke, H, Wareham, Nj, Yuan, W, Bell, Jt, Chakravarti, A, Kooner, J, Peters, A, Matullo, G, Wallaschofski, H, Whitfield, Jb, Paccaud, F, Vollenweider, P, Bergmann, S, Beckmann, J, Tafti, M, Hastie, Nd, Cusi, D, Bochud, M, Frayling, Tm, Metspalu, A, Jarvelin, Mr, Scherag, A, Smith, Gd, Borecki, Ib, Rousson, V, Hirschhorn, Jn, Rivolta, C, Loos, Rj, Kutalik, Z., Hoggart, C, Zhao, J, Winkler, T, Ehret, G, Bochud, P, Evans, D, Lopez, M, Heid, I, Arking, D, Chambers, J, Huffman, J, Berg, J, Blackwood, D, Campbell, H, Cavanagh, J, Connell, J, Connor, M, Cunningham Burley, S, Deary, I, Dominiczak, A, Ellis, P, Fitzpatrick, B, Ford, I, Gertz, R, Grau, A, Haddow, G, Jackson, C, Kerr, S, Lindsay, R, Mcgilchrist, M, Mcintyre, D, Morris, A, Morton, R, Muir, W, Murray, G, Palmer, C, Pell, J, Philp, A, Porteous, M, Procter, R, Ralston, S, Reid, D, Sinnott, R, Smith, B, St Clair, D, Sullivan, F, Sweetland, M, Ure, J, Watt, G, Wolf, R, Wright, A, de Bakker, P, Bültmann, U, Geleijnse, M, Harst, P, Koppelman, G, Rosmalen, J, van Rossum, L, Smidt, H, Swertz, M, Stolk, R, Alizadeh, B, de Boer, R, Boezen, H, Bruinenberg, M, van der Harst, P, Hillege, H, van der Klauw, M, Navis, G, Ormel, J, Postma, D, Slaets, J, Snieder, H, Wolffenbuttel, B, Wijmenga, C, Berndt, S, Gustafsson, S, Mägi, R, Ganna, A, Wheeler, E, Feitosa, M, Justice, A, Monda, K, Croteau Chonka, D, Day, F, Fall, T, Ferreira, T, Gentilini, D, Jackson, A, Randall, J, Vedantam, S, Willer, C, Wood, A, Workalemahu, T, Hu, Y, Lee, S, Liang, L, Lin, D, Min, J, Neale, B, Thorleifsson, G, Yang, J, Albrecht, E, Amin, N, Bragg Gresham, J, Cadby, G, den Heijer, M, Eklund, N, Fischer, K, Goel, A, Hottenga, J, Jarick, I, Johansson, A, Johnson, T, Kanoni, S, Kleber, M, König, I, Kristiansson, K, Kutalik, Z, Lamina, C, Lecoeur, C, Li, G, Mcardle, W, Medina Gomez, C, Müller Nurasyid, M, Ngwa, J, Nolte, I, Paternoster, L, Pechlivanis, S, Perola, M, Peters, M, Preuss, M, Rose, L, Shi, J, Shungin, D, Smith, A, Strawbridge, R, Surakka, I, Trip, M, Tyrer, J, Van Vliet Ostaptchouk, J, Vandenput, L, Waite, L, Absher, D, Asselbergs, F, Atalay, M, Attwood, A, Balmforth, A, Basart, H, Beilby, J, Bonnycastle, L, Brambilla, P, Chasman, D, Chines, P, Collins, F, Cookson, W, de Faire, U, de Vegt, F, Dei, M, Dimitriou, M, Edkins, S, Estrada, K, Farrall, M, Ferrario, M, Ferrières, J, Frau, F, Gejman, P, Grönberg, H, Gudnason, V, Hall, A, Hall, P, Hartikainen, A, Heard Costa, N, Heath, A, Hu, F, Hunt, S, Hyppönen, E, Iribarren, C, Jacobs, K, Jansson, J, Jula, A, Kähönen, M, Kathiresan, S, Kee, F, Khaw, K, Kivimaki, M, Koenig, W, Kraja, A, Kumari, M, Karikuulasmaa, N, Kuusisto, J, Laitinen, J, Lakka, T, Langenberg, C, Launer, L, Lind, L, Lindström, J, Liu, J, Liuzzi, A, Lokki, M, Lorentzon, M, Madden, P, Magnusson, P, Manunta, P, Marek, D, März, W, Leach, I, Mcknight, B, Medland, S, Milani, L, Montgomery, G, Mooser, V, Mühleisen, T, Munroe, P, Musk, A, Narisu, N, Nicholson, G, Nohr, E, Ong, K, Oostra, B, Palotie, A, Peden, J, Pedersen, N, Polasek, O, Pouta, A, Pramstaller, P, Prokopenko, I, Pütter, C, Radhakrishnan, A, Raitakari, O, Rendon, A, Rivadeneira, F, Rudan, I, Saaristo, T, Sambrook, J, Sanders, A, Sanna, S, Saramies, J, Schipf, S, Schreiber, S, Schunkert, H, Shin, S, Signorini, S, Sinisalo, J, Skrobek, B, Soranzo, N, Stancakova, A, Stark, K, Stephens, J, Stirrups, K, Stumvoll, M, Swift, A, Theodoraki, E, Thorand, B, Tregouet, D, Tremoli, E, Van der Klauw, M, van Meurs, J, Vermeulen, S, Viikari, J, Virtamo, J, Vitart, V, Waeber, G, Wang, Z, Widen, E, Wild, S, Willemsen, G, Winkelmann, B, Witteman, J, Wong, A, Zillikens, M, Amouyel, P, Boehm, B, Boomsma, D, Caulfield, M, Chanock, S, Cupples, L, Dedoussis, G, Erdmann, J, Eriksson, J, Franks, P, Froguel, P, Gieger, C, Gyllensten, U, Hamsten, A, Harris, T, Hengstenberg, C, Hicks, A, Hingorani, A, Hinney, A, Hofman, A, Hovingh, K, Hveem, K, Illig, T, Jarvelin, M, Jöckel, K, Keinanen Kiukaanniemi, S, Kiemeney, L, Kuh, D, Laakso, M, Lehtimäki, T, Levinson, D, Martin, N, Nieminen, M, Njølstad, I, Ohlsson, C, Oldehinkel, A, Ouwehand, W, Palmer, L, Penninx, B, Power, C, Province, M, Psaty, B, Qi, L, Rauramaa, R, Ridker, P, Ripatti, S, Salomaa, V, Samani, N, Sørensen, T, Spector, T, Stefansson, K, Tönjes, A, Tuomilehto, J, Uitterlinden, A, Uusitupa, M, Wareham, N, Watkins, H, Wichmann, H, Wilson, J, Abecasis, G, Assimes, T, Barroso, I, Boehnke, M, Borecki, I, Deloukas, P, Fox, C, Frayling, T, Groop, L, Haritunian, T, Hunter, D, Kaplan, R, Karpe, F, Miriammoffatt, N, Mohlke, K, O'Connell, J, Pawitan, Y, Schadt, E, Schlessinger, D, Steinthorsdottir, V, Strachan, D, Thorsteinsdottir, U, van Duijn, C, Visscher, P, Di Blasio, A, Hirschhorn, J, Lindgren, C, Meyre, D, Mccarthy, M, Speliotes, E, North, K, Loos, R, Ingelsson, E, Kemp, J, Lammers, G, Heim, M, Peraita Adrados, R, Schmidt, C, Scott, R, Bell, J, Whitfield, J, Hastie, N, and Da Smith, G
Subjects: Epigenomics, Male, Netherlands Twin Register (NTR), body mass index, gene, SNP, Cancer Research, BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICA, Potassium Channels, Glucose Transport Proteins, Facilitative, Medizin, Genome-wide association study, CHILDREN, ddc:616.07, FAMILIES, Body Mass Index, 0302 clinical medicine, Polymorphism (computer science), Genotype, LifeLines Cohort study, GENETICS & HEREDITY, Tandem Pore Domain, Genetics (clinical), ASSOCIATIONS, ddc:616, Genetics, 0303 health sciences, QUANTITATIVE TRAIT LOCI, Ecology, Genomics, Single Nucleotide, Generation Scotland Consortium, Urological cancers Radboud Institute for Health Sciences [Radboudumc 15], OBESITY, Physical Sciences, KCNK9 protein, Epigenetics, Female, ALCOHOLISM, Glucose Transport Proteins, Life Sciences & Biomedicine, Statistics (Mathematics), Human, Research Article, VARIANCES, Adult, PENETRANCE, GENES, lcsh:QH426-470, Evolution, European Continental Ancestry Group, Single-nucleotide polymorphism, Biostatistics, Biology, Quantitative trait locus, Polymorphism, Single Nucleotide, White People, 03 medical and health sciences, Genomic Imprinting, Potassium Channels, Tandem Pore Domain, Genetic, Behavior and Systematics, SDG 3 - Good Health and Well-being, Genetic linkage, GIANT Consortium, Genome-Wide Association Studies, Humans, Genetic Predisposition to Disease, Statistical Methods, Allele, Polymorphism, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Gene Expression Regulation, Genome-Wide Association Study, Obesity, 030304 developmental biology, 0604 Genetics, Science & Technology, LINKAGE ANALYSIS, SLC2A10 protein, Biology and Life Sciences, Computational Biology, Facilitative, Genome Analysis, Ecology, Evolution, Behavior and Systematic, lcsh:Genetics, Inflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5], 3111 Biomedicine, Genomic imprinting, Mathematics, 030217 neurology & neurosurgery, Developmental Biology
Abstract: The phenotypic effect of some single nucleotide polymorphisms (SNPs) depends on their parental origin. We present a novel approach to detect parent-of-origin effects (POEs) in genome-wide genotype data of unrelated individuals. The method exploits increased phenotypic variance in the heterozygous genotype group relative to the homozygous groups. We applied the method to >56,000 unrelated individuals to search for POEs influencing body mass index (BMI). Six lead SNPs were carried forward for replication in five family-based studies (of ∼4,000 trios). Two SNPs replicated: the paternal rs2471083-C allele (located near the imprinted KCNK9 gene) and the paternal rs3091869-T allele (located near the SLC2A10 gene) increased BMI equally (beta = 0.11 (SD), P, Author Summary Large genetic association studies have revealed many genetic factors influencing common traits, such as body mass index (BMI). These studies assume that the effect of genetic variants is the same regardless of whether they are inherited from the mother or the father. In our study, we have developed a new approach that allows us to investigate variants whose impact depends on their parental origin (parent-of-origin effects), in unrelated samples when the parental origin cannot be inferred. This is feasible because at genetic markers at which such effects occur there is increased variability of the trait among individuals who inherited different genetic codes from their mother and their father compared to individuals who inherited the same genetic code from both parents. We applied this methodology to discover genetic markers with parent-of-origin effects (POEs) on BMI. This resulted in six candidate markers showing strong POE association. We then attempted to replicate the POE effects of these markers in family studies (where one can infer the parental origin of the inherited variants). Two of our candidates showed significant association in the family studies, the paternal and maternal effects of these markers were in the opposite direction.
Published: 2014

38. PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study

Author: Schmidt, A.F., Swerdlow, D.I., Holmes, M.V., Patel, R.S., Fairhurst-Hunter, Z., Lyall, D.M., Hartwig, F.P., Horta, B.L., Hypponen, E., Power, C., Moldovan, M., Iperen, E. van, Hovingh, G.K., Demuth, I., Norman, K., Steinhagen-Thiessen, E., Demuth, J., Bertram, L., Liu, T., Coassin, S., Willeit, J., Kiechl, S., Willeit, K., Mason, D., Wright, J., Morris, R., Wanamethee, G., Whincup, P., Ben-Shlomo, Y., McLachlan, S., Price, J.F., Kivimaki, M., Welch, C., Sanchez-Galvez, A., Marques-Vidal, P., Nicolaides, A., Panayiotou, A.G., Onland-Moret, N.C., Schouw, Y.T. van der, Matullo, G., Fiorito, G., Guarrera, S., Sacerdote, C., Wareham, N.J., Langenberg, C., Scott, R., Luan, J.A., Bobak, M., Malyutina, S.A., Pajak, A., Kubinova, R., Tamosiunas, A., Pikhart, H., Husemoen, L.L.N., Grarup, N., Pedersen, O., Hansen, T., Linneberg, A., Simonsen, K.S., Cooper, J., Humphries, S.E., Brilliant, M., Kitchner, T., Hakonarson, H., Carrell, D.S., McCarty, C.A., Kirchner, H.L., Larson, E.B., Crosslin, D.R., Andrade, M. de, Roden, D.M., Denny, J.C., Carty, C., Hancock, S., Attia, J., Holliday, E., Donnell, M.O., Yusuf, S., Chong, M., Pare, G., Harst, P. van der, Said, M.A., Eppinga, R.N., Verweij, N., Snieder, H., Christen, T., Mook-Kanamori, D.O., Gustafsson, S., Lind, L., Ingelsson, E., Pazoki, R., Franco, O., Hofman, A., Uitterlinden, A., Dehghan, A., Teumer, A., Baumeister, S., Dorr, M., Lerch, M.M., Volker, U., Volzke, H., Ward, J., Pell, J.P., Smith, D.J., Meade, T., Maitland-van der Zee, A.H., Baranova, E.V., Young, R., Ford, I., Campbell, A., Padmanabhan, S., Bots, M.L., Grobbee, D.E., Froguel, P., Thuillier, D., Balkau, B., Bonnefond, A., Cariou, B., Smart, M., Bao, Y., Kumari, M., Mahajan, A., Ridker, P.M., Chasman, D.I., Reiner, A.P., Lange, L.A., Ritchie, M.D., Asselbergs, F.W., Casas, J.P., Keating, B.J., Preiss, D., Hingorani, A.D., Sattar, N., LifeLines Cohort Study Grp, UCLEB Consortium, Centre for Paediatric Epidemiology and Biostatistics, University College of London [London] (UCL), MRC Centre for Epidemiology of Child Health, UCL Institute of Child Health, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Dept. of Gastroenterology, Hepatology and Endocrinology, Neuroepidemiology of Ageing Research Unit, Imperial College London, Institut des Sciences Moléculaires (ISM), Centre National de la Recherche Scientifique (CNRS)-École Nationale Supérieure de Chimie et de Physique de Bordeaux (ENSCPB)-Université Sciences et Technologies - Bordeaux 1-Université Montesquieu - Bordeaux 4-Institut de Chimie du CNRS (INC), Division of Community Health Sciences, St George's University of London, Department of Social Medicine, University of Bristol [Bristol], Finnish Institute of Occupational Health of Helsinki, Department of Epidemiology and Public Health, Institute of Social and Preventive Medicine, Lausanne university hospital, Computer Science Department, University of Cyprus, Cyprus Institute of Neurology and Genetics, University Medical Center [Utrecht], Department of Genetics, Biology and Biochemistry, University of Turin, Institute for Scientific Interchange Foundation, Center for Cancer Prevention, CPO-Piemonte, Unità di epidemiologia dei tumori, Università degli studi di Torino (UNITO)-HuGeF Foundation, Medical Research Council Epidemiology Unit, University of Cambridge [UK] (CAM), Serono Genetics Institute S.A.[Evry], Serono Genetics Institute, Institute of Internal and Preventive Medicine Sibe rian Branch, Russian Academy of Medical Sciences, Institute of Internal Medicine, Novosibirsk State Medical University, Centre for Environmental Health, National Institute of Public Health [Prague], Novo Nordisk Foundation Center for Basic Metabolic Research (CBMR), Faculty of Health and Medical Sciences, University of Copenhagen = Københavns Universitet (KU)-University of Copenhagen = Københavns Universitet (KU), University of Copenhagen = Københavns Universitet (KU), Research Centre for Prevention and Health (RCPH), Department of Public Health [Copenhagen], University of Copenhagen = Københavns Universitet (KU)-University of Copenhagen = Københavns Universitet (KU)-Faculty of Health and Medical Sciences, University of Copenhagen = Københavns Universitet (KU)-University of Copenhagen = Københavns Universitet (KU)-Capital Region of Denmark, Rigshospitalet [Copenhagen], Copenhagen University Hospital, BHF Laboratories, Rayne building, Department of Medicine, 5 University Street, The Center for Applied Genomics, Children’s Hospital of Philadelphia (CHOP ), Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania [Philadelphia]-University of Pennsylvania [Philadelphia]-Children’s Hospital of Philadelphia (CHOP ), Population Health Research Institute, Institut de Physique et Chimie des Matériaux de Strasbourg (IPCMS), Université de Strasbourg (UNISTRA)-Matériaux et nanosciences d'Alsace (FMNGE), Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA), Unit of Genetic Epidemiology and Bioinformatics, Department of Epidemiology, University Medical Center Groningen, University of Groningen [Groningen], Augusta University - Medical College of Georgia, University System of Georgia (USG)-University System of Georgia (USG), Limnology, Ecology, Uppsala Universitet [Uppsala], Metacohorts Consortium, Erasmus University Medical Center [Rotterdam] (Erasmus MC), King‘s College London, Interfaculty Institute for Genetics and Functional Genomics, Universität Greifswald - University of Greifswald, Institute for Community Medicine, Department of Oncology and Metabolism [Sheffield, UK], The University of Sheffield [Sheffield, U.K.], European Associated Laboratory [Sheffield, UK] (Sarcoma Research Unit), Robertson Centre for Biostatistics, University of Glasgow, Faculty of Medicine, University of Glasgow, Julius Center for Health Sciences and Primary Care, Génétique des maladies multifactorielles (GMM), Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), INSERM UMRS 1178, Institut de recherche en biothérapie (IRB), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Physics, Indian Institute of Technology Kanpur (IIT Kanpur), Department of Pathological Biochemistry, Royal Infirmary, Wareham, Nicholas [0000-0003-1422-2993], Langenberg, Claudia [0000-0002-5017-7344], Luan, Jian'an [0000-0003-3137-6337], and Apollo - University of Cambridge Repository
Subjects: Blood Glucose, Cohort Studies, Diabetes Mellitus, Type 2, Case-Control Studies, [SDV]Life Sciences [q-bio], Genetic Variation, Humans, Genetic Predisposition to Disease, Cholesterol, LDL, Mendelian Randomization Analysis, Proprotein Convertase 9, Randomized Controlled Trials as Topic
Abstract: BACKGROUND:Statin treatment and variants in the gene encoding HMG-CoA reductase are associated with reductions in both the concentration of LDL cholesterol and the risk of coronary heart disease, but also with modest hyperglycaemia, increased bodyweight, and modestly increased risk of type 2 diabetes, which in no way offsets their substantial benefits. We sought to investigate the associations of LDL cholesterol-lowering PCSK9 variants with type 2 diabetes and related biomarkers to gauge the likely effects of PCSK9 inhibitors on diabetes risk.METHODS:In this mendelian randomisation study, we used data from cohort studies, randomised controlled trials, case control studies, and genetic consortia to estimate associations of PCSK9 genetic variants with LDL cholesterol, fasting blood glucose, HbA1c, fasting insulin, bodyweight, waist-to-hip ratio, BMI, and risk of type 2 diabetes, using a standardised analysis plan, meta-analyses, and weighted gene-centric scores.FINDINGS:Data were available for more than 550 000 individuals and 51 623 cases of type 2 diabetes. Combined analyses of four independent PCSK9 variants (rs11583680, rs11591147, rs2479409, and rs11206510) scaled to 1 mmol/L lower LDL cholesterol showed associations with increased fasting glucose (0·09 mmol/L, 95% CI 0·02 to 0·15), bodyweight (1·03 kg, 0·24 to 1·82), waist-to-hip ratio (0·006, 0·003 to 0·010), and an odds ratio for type diabetes of 1·29 (1·11 to 1·50). Based on the collected data, we did not identify associations with HbA1c (0·03%, -0·01 to 0·08), fasting insulin (0·00%, -0·06 to 0·07), and BMI (0·11 kg/m2, -0·09 to 0·30).INTERPRETATION:PCSK9 variants associated with lower LDL cholesterol were also associated with circulating higher fasting glucose concentration, bodyweight, and waist-to-hip ratio, and an increased risk of type 2 diabetes. In trials of PCSK9 inhibitor drugs, investigators should carefully assess these safety outcomes and quantify the risks and benefits of PCSK9 inhibitor treatment, as was previously done for statins.FUNDING:British Heart Foundation, and University College London Hospitals NHS Foundation Trust (UCLH) National Institute for Health Research (NIHR) Biomedical Research Centre.
Published: 2016

39. Stress marks of two fishing methods in octopus beaks

Author: Perales-Raya, C. (Catalina), Bartolomé-Baraza, A. (Aurora), Baldascino, E. (Elena), and Fiorito, G. (Graziano)
Subjects: Cephalopods, Beaks, jigging, Fisheries, Octopus vulgaris, traps, Stress, Microstructure
Published: 2016

40. Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry

Author: Figueroa, J.D., Middlebrooks, C.D., Banday, A.R., Ye, Y., Garcia-Closas, M., Chatterjee, N., Koutros, S., Kiemeney, L.A., Rafnar, T., Bishop, T., Furberg, H., Matullo, G., Golka, K., Gago-Dominguez, M., Taylor, J.A., Fletcher, T., Siddiq, A., Cortessis, V.K., Kooperberg, C., Cussenot, O., Benhamou, S., Prescott, J., Porru, S., Dinney, C.P., Malats, N., Baris, D., Purdue, M.P., Jacobs, E.J., Albanes, D., Wang, Z., Chung, C.C., Vermeulen, S.H., Aben, K.K.H., Galesloot, T.E., Thorleifsson, G., Sulem, P., Stefansson, K., Kiltie, A.E., Harland, M., Teo, M., Offit, K., Vijai, J., Bajorin, D., Kopp, R., Fiorito, G., Guarrera, S., Sacerdote, C., Selinski, S., Hengstler, J.G., Gerullis, H., Ovsiannikov, D., Blaszkewicz, M., Castelao, J.E., Calaza, M., Martinez, M.E., Cordeiro, P., Xu, Z., Panduri, V., Kumar, R., Gurzau, E, Koppova, K., Bueno-de-Mesquita, H.B., Ljungberg, B., Clavel-Chapelon, F., Weiderpass, E., Krogh, V., Dorronsoro, M., Travis, R.C., Tjonneland, A., Brennan, P., Chang-Claude, J., Riboli, E., Conti, D., Stern, M.C., Pike, M.C., Berg, D., Yuan, J.M., Hohensee, C., Jeppson, R.P., Cancel-Tassin, G., Roupret, M., Comperat, E., Turman, C., Vivo, I. De, Giovannucci, E., Hunter, D.J., Kraft, P., Lindstrom, S., Carta, A., Pavanello, S., Arici, C., Mastrangelo, G., Kamat, A.M., Zhang, L., Gong, Y., Pu, X., Hutchinson, A., Burdett, L., Wheeler, W.A., Karagas, M.R., et al., Figueroa, J.D., Middlebrooks, C.D., Banday, A.R., Ye, Y., Garcia-Closas, M., Chatterjee, N., Koutros, S., Kiemeney, L.A., Rafnar, T., Bishop, T., Furberg, H., Matullo, G., Golka, K., Gago-Dominguez, M., Taylor, J.A., Fletcher, T., Siddiq, A., Cortessis, V.K., Kooperberg, C., Cussenot, O., Benhamou, S., Prescott, J., Porru, S., Dinney, C.P., Malats, N., Baris, D., Purdue, M.P., Jacobs, E.J., Albanes, D., Wang, Z., Chung, C.C., Vermeulen, S.H., Aben, K.K.H., Galesloot, T.E., Thorleifsson, G., Sulem, P., Stefansson, K., Kiltie, A.E., Harland, M., Teo, M., Offit, K., Vijai, J., Bajorin, D., Kopp, R., Fiorito, G., Guarrera, S., Sacerdote, C., Selinski, S., Hengstler, J.G., Gerullis, H., Ovsiannikov, D., Blaszkewicz, M., Castelao, J.E., Calaza, M., Martinez, M.E., Cordeiro, P., Xu, Z., Panduri, V., Kumar, R., Gurzau, E, Koppova, K., Bueno-de-Mesquita, H.B., Ljungberg, B., Clavel-Chapelon, F., Weiderpass, E., Krogh, V., Dorronsoro, M., Travis, R.C., Tjonneland, A., Brennan, P., Chang-Claude, J., Riboli, E., Conti, D., Stern, M.C., Pike, M.C., Berg, D., Yuan, J.M., Hohensee, C., Jeppson, R.P., Cancel-Tassin, G., Roupret, M., Comperat, E., Turman, C., Vivo, I. De, Giovannucci, E., Hunter, D.J., Kraft, P., Lindstrom, S., Carta, A., Pavanello, S., Arici, C., Mastrangelo, G., Kamat, A.M., Zhang, L., Gong, Y., Pu, X., Hutchinson, A., Burdett, L., Wheeler, W.A., Karagas, M.R., and et al.
Abstract: Contains fulltext : 167299.pdf (publisher's version ) (Closed access), Candidate gene and genome-wide association studies (GWAS) have identified 15 independent genomic regions associated with bladder cancer risk. In search for additional susceptibility variants, we followed up on four promising single-nucleotide polymorphisms (SNPs) that had not achieved genome-wide significance in 6911 cases and 11 814 controls (rs6104690, rs4510656, rs5003154 and rs4907479, P < 1 x 10(-6)), using additional data from existing GWAS datasets and targeted genotyping for studies that did not have GWAS data. In a combined analysis, which included data on up to 15 058 cases and 286 270 controls, two SNPs achieved genome-wide statistical significance: rs6104690 in a gene desert at 20p12.2 (P = 2.19 x 10(-11)) and rs4907479 within the MCF2L gene at 13q34 (P = 3.3 x 10(-10)). Imputation and fine-mapping analyses were performed in these two regions for a subset of 5551 bladder cancer cases and 10 242 controls. Analyses at the 13q34 region suggest a single signal marked by rs4907479. In contrast, we detected two signals in the 20p12.2 region-the first signal is marked by rs6104690, and the second signal is marked by two moderately correlated SNPs (r(2) = 0.53), rs6108803 and the previously reported rs62185668. The second 20p12.2 signal is more strongly associated with the risk of muscle-invasive (T2-T4 stage) compared with non-muscle-invasive (Ta, T1 stage) bladder cancer (case-case P
Published: 2016

41. PCSK9 genetic variants and risk of type 2 diabetes: A mendelian randomisation study

Author: Schmidt, A.F. (Amand F.), Swerdlow, D.I. (Daniel), Holmes, M.V. (Michael), Patel, R.S. (Riyaz), Fairhurst-Hunter, Z. (Zammy), Lyall, D.M. (Donald M.), Hartwig, F.P. (Fernando Pires), Horta, B.L. (Bernardo Lessa), Hypponen, E. (Elina), Power, C. (Christopher), Moldovan, M. (Max), Iperen, E.P.A. (Erik) van, Hovingh, G.K. (Kees), Demuth, I. (Ilja), Norman, K. (Kristina), Steinhagen-Thiessen, E. (Elisabeth), Demuth, J. (Juri), Bertram, L. (Lars), Liu, T. (Tian), Coassin, S. (Stefan), Willeit, J. (Johann), Kiechl, S. (Stefan), Willeit, K. (Karin), Mason, D. (Dan), Wright, J. (Juliet), Morris, R.W. (Richard), Wanamethee, G. (Goya), Whincup, P.H. (Peter), Ben-Shlomo, Y., McLachlan, S. (Stela), Price, J.F. (Jackie F.), Kivimaki, M. (Mika), Welch, C. (Catherine), Sanchez-Galvez, A. (Adelaida), Marques-Vidal, P. (Pedro), Nicolaides, A.N. (Andrew), Panayiotou, A.G. (Andrie), Onland-Moret, N.C. (N Charlotte), Schouw, Y.T. (Yvonne) van der, Matullo, G., Fiorito, G. (Giovanni), Guarrera, S. (Simonetta), Sacerdote, C. (Carlotta), Wareham, N.J. (Nick), Langenberg, C. (Claudia), Scott, R. (Robert), Luan, J. (Jian'an), Bobak, M. (Martin), Malyutina, S., Pajak, A. (Andrzej), Kubinova, R., Tamosiunas, A. (Abdonas), Pikhart, H. (Hynek), Husemoen, L.L.N. (Lise Lotte), Grarup, N. (Niels), Pedersen, O. (Oluf), Hansen, T. (T.), Linneberg, A. (Allan), Simonsen, K.S. (Kenneth Starup), Cooper, J. (Jim), Humphries, S.E. (Steve), Brilliant, M.H. (Murray H.), Kitchner, T.E. (Terrie E.), Hakonarson, H. (Hakon), Carrell, D.S. (David), McCarty, C.A. (Catherine A.), Kirchner, H.L. (H Lester), Larson, E.B. (Eric B.), Crosslin, D.R. (David), de Andrade, M. (Mariza), Roden, D.M. (Dan M.), Denny, J.C. (Joshua C.), Carty, C. (Cara), Hancock, S. (Stephen), Attia, J. (John), Holliday, E.G. (Elizabeth), Donnell, M.O.'. (Martin O'), Yusuf, S. (Salim), Chong, M. (Michael), Pare, G. (Guillame), Harst, P. (Pim) van der, Said, M.A. (M Abdullah), Eppinga, R.N. (Ruben N.), Verweij, N. (Niek), Snieder, H. (Harold), Christen, T. (Tim), Mook-Kanamori, D.O. (Dennis), Gustafsson, S. (Stefan), Kao, W.H.L. (Wen), Ingelsson, E. (Erik), Pazoki, R. (Raha), Franco, O.H. (Oscar), Hofman, A. (Albert), Uitterlinden, A.G. (André), Dehghan, A. (Abbas), Teumer, A. (Alexander), Baumeister, S.E. (Sebastian), Dörr, M. (Marcus), Lerch, M.M. (Markus M.), Völker, U. (Uwe), Völzke, H. (Henry), Ward, J. (Joey), Pell, J.P. (Jill P.), Smith, D.J. (Daniel J.), Meade, T. (Tom), Maitland-van der Zee, A-H. (Anke-Hilse), Baranova, E.V. (Ekaterina V.), Young, R. (Robin), Ford, I. (Ian), Campbell, A. (Archie), Padmanabhan, S. (Sandosh), Bots, M.L. (Michiel), Grobbee, D.E. (Diederick E.), Froguel, P. (Philippe), Thuillier, D. (Dorothee), Balkau, B. (Beverley), Bonnefond, A. (Amélie), Cariou, B. (Bertrand), Smart, M. (Melissa), Bao, Y. (Yanchun), Kumari, M. (Meena), Mahajan, A. (Anubha), Ridker, P.M. (Paul), Chasman, D.I. (Daniel I.), Reiner, A. (Alexander), Lange, L.A. (Leslie), Ritchie, M.D. (Marylyn D.), Asselbergs, F.W. (Folkert), Casas, J.P. (Juan), Keating, J. (John), Preiss, D. (David), Hingorani, A. (Aroon), Sattar, N. (Naveed), Schmidt, A.F. (Amand F.), Swerdlow, D.I. (Daniel), Holmes, M.V. (Michael), Patel, R.S. (Riyaz), Fairhurst-Hunter, Z. (Zammy), Lyall, D.M. (Donald M.), Hartwig, F.P. (Fernando Pires), Horta, B.L. (Bernardo Lessa), Hypponen, E. (Elina), Power, C. (Christopher), Moldovan, M. (Max), Iperen, E.P.A. (Erik) van, Hovingh, G.K. (Kees), Demuth, I. (Ilja), Norman, K. (Kristina), Steinhagen-Thiessen, E. (Elisabeth), Demuth, J. (Juri), Bertram, L. (Lars), Liu, T. (Tian), Coassin, S. (Stefan), Willeit, J. (Johann), Kiechl, S. (Stefan), Willeit, K. (Karin), Mason, D. (Dan), Wright, J. (Juliet), Morris, R.W. (Richard), Wanamethee, G. (Goya), Whincup, P.H. (Peter), Ben-Shlomo, Y., McLachlan, S. (Stela), Price, J.F. (Jackie F.), Kivimaki, M. (Mika), Welch, C. (Catherine), Sanchez-Galvez, A. (Adelaida), Marques-Vidal, P. (Pedro), Nicolaides, A.N. (Andrew), Panayiotou, A.G. (Andrie), Onland-Moret, N.C. (N Charlotte), Schouw, Y.T. (Yvonne) van der, Matullo, G., Fiorito, G. (Giovanni), Guarrera, S. (Simonetta), Sacerdote, C. (Carlotta), Wareham, N.J. (Nick), Langenberg, C. (Claudia), Scott, R. (Robert), Luan, J. (Jian'an), Bobak, M. (Martin), Malyutina, S., Pajak, A. (Andrzej), Kubinova, R., Tamosiunas, A. (Abdonas), Pikhart, H. (Hynek), Husemoen, L.L.N. (Lise Lotte), Grarup, N. (Niels), Pedersen, O. (Oluf), Hansen, T. (T.), Linneberg, A. (Allan), Simonsen, K.S. (Kenneth Starup), Cooper, J. (Jim), Humphries, S.E. (Steve), Brilliant, M.H. (Murray H.), Kitchner, T.E. (Terrie E.), Hakonarson, H. (Hakon), Carrell, D.S. (David), McCarty, C.A. (Catherine A.), Kirchner, H.L. (H Lester), Larson, E.B. (Eric B.), Crosslin, D.R. (David), de Andrade, M. (Mariza), Roden, D.M. (Dan M.), Denny, J.C. (Joshua C.), Carty, C. (Cara), Hancock, S. (Stephen), Attia, J. (John), Holliday, E.G. (Elizabeth), Donnell, M.O.'. (Martin O'), Yusuf, S. (Salim), Chong, M. (Michael), Pare, G. (Guillame), Harst, P. (Pim) van der, Said, M.A. (M Abdullah), Eppinga, R.N. (Ruben N.), Verweij, N. (Niek), Snieder, H. (Harold), Christen, T. (Tim), Mook-Kanamori, D.O. (Dennis), Gustafsson, S. (Stefan), Kao, W.H.L. (Wen), Ingelsson, E. (Erik), Pazoki, R. (Raha), Franco, O.H. (Oscar), Hofman, A. (Albert), Uitterlinden, A.G. (André), Dehghan, A. (Abbas), Teumer, A. (Alexander), Baumeister, S.E. (Sebastian), Dörr, M. (Marcus), Lerch, M.M. (Markus M.), Völker, U. (Uwe), Völzke, H. (Henry), Ward, J. (Joey), Pell, J.P. (Jill P.), Smith, D.J. (Daniel J.), Meade, T. (Tom), Maitland-van der Zee, A-H. (Anke-Hilse), Baranova, E.V. (Ekaterina V.), Young, R. (Robin), Ford, I. (Ian), Campbell, A. (Archie), Padmanabhan, S. (Sandosh), Bots, M.L. (Michiel), Grobbee, D.E. (Diederick E.), Froguel, P. (Philippe), Thuillier, D. (Dorothee), Balkau, B. (Beverley), Bonnefond, A. (Amélie), Cariou, B. (Bertrand), Smart, M. (Melissa), Bao, Y. (Yanchun), Kumari, M. (Meena), Mahajan, A. (Anubha), Ridker, P.M. (Paul), Chasman, D.I. (Daniel I.), Reiner, A. (Alexander), Lange, L.A. (Leslie), Ritchie, M.D. (Marylyn D.), Asselbergs, F.W. (Folkert), Casas, J.P. (Juan), Keating, J. (John), Preiss, D. (David), Hingorani, A. (Aroon), and Sattar, N. (Naveed)
Abstract: Background: Statin treatment and variants in the gene encoding HMG-CoA reductase are associated with reductions in both the concentration of LDL cholesterol and the risk of coronary heart disease, but also with modest hyperglycaemia, increased bodyweight, and modestly increased risk of type 2 diabetes, which in no way offsets their substantial benefits. We sought to investigate the associations of LDL cholesterol-lowering . PCSK9 variants with type 2 diabetes and related biomarkers to gauge the likely effects of PCSK9 inhibitors on diabetes risk. Methods: In this mendelian randomisation study, we used data from cohort studies, randomised controlled trials, case control studies, and genetic consortia to estimate associations of PCSK9 genetic variants with LDL cholesterol, fasting blood glucose, HbA1c, fasting insulin, bodyweight, waist-to-hip ratio, BMI, and risk of type 2 diabetes, using a standardised analysis plan, meta-analyses, and weighted gene-centric scores. Findings: Data were available for more than 550 000 individuals and 51 623 cases of type 2 diabetes. Combined analyses of four independent PCSK9 variants (rs11583680, rs11591147, rs2479409, and rs11206510) scaled to 1 mmol/L lower LDL cholesterol showed associations with increased fasting glucose (0·09 mmol/L, 95% CI 0·02 to 0·15), bodyweight (1·03 kg, 0·24 to 1·82), waist-to-hip ratio (0·006, 0·003 to 0·010), and an odds ratio for type diabetes of 1·29 (1·11 to 1·50). Based on the collected data, we did not identify associations with HbA1c (0·03%, -0·01 to 0·08), fasting insulin (0·00%, -0·06 to 0·07), and BMI (0·11 kg/m2, -0·09 to 0·30). Interpretation: . PCSK9 variants associated with lower LDL cholesterol were also associated with circulating higher fasting glucose concentration, bodyweight, and waist-to-hip ratio, and an increased risk of type 2 diabetes. In trials of PCSK9 inhibitor drugs, investigators should carefully assess these safety outcomes and quantify the risks and benefits of PCSK9 inhibi
Published: 2016
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42. DNA methylation signatures of chronic low-grade inflammation are associated with complex diseases

Author: Ligthart, S. (Symen), Marzi, C. (Carola), Aslibekyan, S. (Stella), Mendelson, M.M. (Michael M.), Conneely, K.N. (Karen N.), Tanaka, T. (Toshiko), Colicino, E. (Elena), Waite, L. (Lindsay), Joehanes, R. (Roby), Guan, W. (Weihua), Brody, J.A. (Jennifer A.), Elks, C.E. (Cathy), Marioni, R.E. (Riccardo), Jhun, M.A. (Min A.), Agha, G. (Golareh), Bressler, J. (Jan), Ward-Caviness, C.K. (Cavin K.), Chen, B.H. (Brian), Huan, T. (Tianxiao), Bakulski, K.M. (Kelly M.), Salfati, E. (Elias), Fiorito, G. (Giovanni), Wahl, S. (Simone), Schramm, K. (Katharina), Sha, J. (Jin), Hernandez, D.G. (Dena), Just, A.C. (Allan C.), Smith, J.A. (Jennifer A), Sotoodehnia, N. (Nona), Pilling, L.C. (Luke), Pankow, J.S. (James), Tsao, P.S. (Phil S.), Liu, C. (Chunyu), Zhao, W. (Wei), Guarrera, S. (Simonetta), Michopoulos, V.J. (Vasiliki J.), Smith, A.K. (Alicia K.), Peters, M.J. (Marjolein), Melzer, D. (David), Vokonas, P. (Pantel), Fornage, M. (Myriam), Prokisch, H. (Holger), Bis, J.C. (Joshua), Chu, A.Y. (Audrey), Herder, C. (Christian), Grallert, H. (Harald), Yao, C. (Chen), Shah, S. (Sonia), McRae, A.F. (Allan F.), Lin, H., Horvath, S. (Steve), Fallin, D. (Daniele), Hofman, A. (Albert), Wareham, N.J. (Nick), Wiggins, K.L. (Kerri), Feinberg, A.P. (Andrew P.), Starr, J.M. (John), Visscher, P.M. (Peter), Murabito, J. (Joanne), Kardia, S.L.R. (Sharon L.R.), Absher, D. (Devin), Binder, E.B. (Elisabeth), Singleton, A. (Andrew), Bandinelli, S. (Stefania), Peters, A. (Annette), Waldenberger, M. (Melanie), Matullo, G., Schwartz, J.D. (Joel D.), Demerath, E.W. (Ellen), Uitterlinden, A.G. (André), Meurs, J.B.J. (Joyce B.J.), Franco, O.H. (Oscar), Chen, Y.D. (Y.), Levy, D. (Daniel), Turner, S.T. (Stephen), Deary, I.J. (Ian), Ressler, K.J. (Kerry), Dupuis, J. (Josée), Ferrucci, L. (Luigi), Ong, K.K. (Ken K.), Assimes, T.L. (Themistocles), Boerwinkle, E.A. (Eric), Koenig, W. (Wolfgang), Arnett, D.K. (Donna), Baccarelli, A.A. (Andrea), Benjamin, E.J. (Emelia), Dehghan, A. (Abbas), Ligthart, S. (Symen), Marzi, C. (Carola), Aslibekyan, S. (Stella), Mendelson, M.M. (Michael M.), Conneely, K.N. (Karen N.), Tanaka, T. (Toshiko), Colicino, E. (Elena), Waite, L. (Lindsay), Joehanes, R. (Roby), Guan, W. (Weihua), Brody, J.A. (Jennifer A.), Elks, C.E. (Cathy), Marioni, R.E. (Riccardo), Jhun, M.A. (Min A.), Agha, G. (Golareh), Bressler, J. (Jan), Ward-Caviness, C.K. (Cavin K.), Chen, B.H. (Brian), Huan, T. (Tianxiao), Bakulski, K.M. (Kelly M.), Salfati, E. (Elias), Fiorito, G. (Giovanni), Wahl, S. (Simone), Schramm, K. (Katharina), Sha, J. (Jin), Hernandez, D.G. (Dena), Just, A.C. (Allan C.), Smith, J.A. (Jennifer A), Sotoodehnia, N. (Nona), Pilling, L.C. (Luke), Pankow, J.S. (James), Tsao, P.S. (Phil S.), Liu, C. (Chunyu), Zhao, W. (Wei), Guarrera, S. (Simonetta), Michopoulos, V.J. (Vasiliki J.), Smith, A.K. (Alicia K.), Peters, M.J. (Marjolein), Melzer, D. (David), Vokonas, P. (Pantel), Fornage, M. (Myriam), Prokisch, H. (Holger), Bis, J.C. (Joshua), Chu, A.Y. (Audrey), Herder, C. (Christian), Grallert, H. (Harald), Yao, C. (Chen), Shah, S. (Sonia), McRae, A.F. (Allan F.), Lin, H., Horvath, S. (Steve), Fallin, D. (Daniele), Hofman, A. (Albert), Wareham, N.J. (Nick), Wiggins, K.L. (Kerri), Feinberg, A.P. (Andrew P.), Starr, J.M. (John), Visscher, P.M. (Peter), Murabito, J. (Joanne), Kardia, S.L.R. (Sharon L.R.), Absher, D. (Devin), Binder, E.B. (Elisabeth), Singleton, A. (Andrew), Bandinelli, S. (Stefania), Peters, A. (Annette), Waldenberger, M. (Melanie), Matullo, G., Schwartz, J.D. (Joel D.), Demerath, E.W. (Ellen), Uitterlinden, A.G. (André), Meurs, J.B.J. (Joyce B.J.), Franco, O.H. (Oscar), Chen, Y.D. (Y.), Levy, D. (Daniel), Turner, S.T. (Stephen), Deary, I.J. (Ian), Ressler, K.J. (Kerry), Dupuis, J. (Josée), Ferrucci, L. (Luigi), Ong, K.K. (Ken K.), Assimes, T.L. (Themistocles), Boerwinkle, E.A. (Eric), Koenig, W. (Wolfgang), Arnett, D.K. (Donna), Baccarelli, A.A. (Andrea), Benjamin, E.J. (Emelia), and Dehghan, A. (Abbas)
Abstract: Background: Chronic low-grade inflammation reflects a subclinical immune response implicated in the pathogenesis of complex diseases. Identifying genetic loci where DNA methylation is as
Published: 2016
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43. La Terra è un organismo? Gaia come espediente persuasivo e come generatore di ipotesi scientifiche

Author: Bentivegna, G, Caianiello, S, Donise, A, Fiorito, G, Fogassi, L, Galloni, G, Leone, U, Minelli, A, Morabito, C, Serrelli, E, Simonutti, L, SERRELLI, EMANUELE, Bentivegna, G, Caianiello, S, Donise, A, Fiorito, G, Fogassi, L, Galloni, G, Leone, U, Minelli, A, Morabito, C, Serrelli, E, Simonutti, L, and SERRELLI, EMANUELE
Abstract: In this essay, the history of the “Gaia hypothesis” is used as an example for dilemmas in science communication. James Lovelock invented and developed the idea of Gaia, while Lynn Margulis defended it and worked out a “metatheory” according to which scientific data are exaggerated into the image of the Earth as an organism. Heated reactions to Gaia produced different metatheories, arguing that Gaia was a product of ethical and unscientific choices, superimposed on scientific data. The essay defends the metatheoretical definition of Gaia as a “scientific narrative”, a hypotheses-generator which is part of science but works in an inspirational way. The accessibility of a scientific narrative is, at once, the source of its generative power, the hook to involve lay people in science, and the worrying factor for movements of scientists defending science against pseudoscience and other threats
Published: 2015

44. Properties of Hg implanted Hg1−x Cd x Te infrared detectors

Author: Fiorito, G., Gasparrini, G., and Svelto, F.
Published: 1978
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45. Immunological and behavioural responses to an immune challenge in Octopus vulgaris

Author: Locatello, Lisa, Fiorito, G., and Rasotto, MARIA BERICA
Published: 2012

46. Noninvasive study of the Octopus vulgaris arm morphology using ultrasound

Author: Margheri, Laura, Ponte, Giovanna, Mazzolai, Barbara, Laschi, Cecilia, and Fiorito, G.
Published: 2011

47. Early diagnosis of bladder cancer through the detection of urinary tyrosine-phosphorylated proteins

Author: Khadjavi, A, primary, Mannu, F, additional, Destefanis, P, additional, Sacerdote, C, additional, Battaglia, A, additional, Allasia, M, additional, Fontana, D, additional, Frea, B, additional, Polidoro, S, additional, Fiorito, G, additional, Matullo, G, additional, Pantaleo, A, additional, Notarpietro, A, additional, Prato, M, additional, Castagno, F, additional, Vineis, P, additional, Gontero, P, additional, Giribaldi, G, additional, and Turrini, F, additional
Published: 2015
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48. Anatomical study and in vivo measurement of the elongation and strength capability of the octopus arm

Author: Margheri, Laura, Ponte, Giovanna, Mazzolai, Barbara, Laschi, Cecilia, Dario, Paolo, and Fiorito, G.
Published: 2010

49. Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index

Author: Hoggart, C.J., Venturini, G., Mangino, M., Gomez, F., Ascari, G., Zhao, J.H., Teumer, A., Winkler, T.W., Tsernikova, N., Luan, J., Mihailov, E., Ehret, G.B., Zhang, W., Lamparter, D., Esko, T., Mace, A., Rueger, S., Bochud, P.Y., Barcella, M., Dauvilliers, Y., Benyamin, B., Evans, D.M., Hayward, C., Lopez, M.F., Franke, L., Russo, A., Heid, I.M., Salvi, E., Vendantam, S., Arking, D.E., Boerwinkle, E., Chambers, J.C., Fiorito, G., Grallert, H., Guarrera, S., Homuth, G., Huffman, J.E., Porteous, D., Moradpour, D., Iranzo, A., Hebebrand, J., Kemp, J.P., Lammers, G.J., Aubert, V., Heim, M.H., Martin, N.G., Montgomery, G.W., Peraita-Adrados, R., Santamaria, J., Negro, F., Schmidt, C.O., Scott, R.A., Spector, T.D., Strauch, K., Volzke, H., Wareham, N.J., Yuan, W., Bell, J.T., Chakravarti, A., Kooner, J.S., Peters, A., Matullo, G., Wallaschofski, H., Whitfield, J.B., Paccaud, F., Vollenweider, P., Bergmann, S., Beckmann, J.S., Tafti, M., Hastie, N.D., Cusi, D., Bochud, M., Frayling, T.M., Metspalu, A., Jarvelin, M.R., Scherag, A., Smith, G.D., Borecki, I.B., Rousson, V., Hirschhorn, J.N., Rivolta, C., Loos, R.J., Kutalik, Z., Vermeulen, S., Kiemeney, L.A., et al., Hoggart, C.J., Venturini, G., Mangino, M., Gomez, F., Ascari, G., Zhao, J.H., Teumer, A., Winkler, T.W., Tsernikova, N., Luan, J., Mihailov, E., Ehret, G.B., Zhang, W., Lamparter, D., Esko, T., Mace, A., Rueger, S., Bochud, P.Y., Barcella, M., Dauvilliers, Y., Benyamin, B., Evans, D.M., Hayward, C., Lopez, M.F., Franke, L., Russo, A., Heid, I.M., Salvi, E., Vendantam, S., Arking, D.E., Boerwinkle, E., Chambers, J.C., Fiorito, G., Grallert, H., Guarrera, S., Homuth, G., Huffman, J.E., Porteous, D., Moradpour, D., Iranzo, A., Hebebrand, J., Kemp, J.P., Lammers, G.J., Aubert, V., Heim, M.H., Martin, N.G., Montgomery, G.W., Peraita-Adrados, R., Santamaria, J., Negro, F., Schmidt, C.O., Scott, R.A., Spector, T.D., Strauch, K., Volzke, H., Wareham, N.J., Yuan, W., Bell, J.T., Chakravarti, A., Kooner, J.S., Peters, A., Matullo, G., Wallaschofski, H., Whitfield, J.B., Paccaud, F., Vollenweider, P., Bergmann, S., Beckmann, J.S., Tafti, M., Hastie, N.D., Cusi, D., Bochud, M., Frayling, T.M., Metspalu, A., Jarvelin, M.R., Scherag, A., Smith, G.D., Borecki, I.B., Rousson, V., Hirschhorn, J.N., Rivolta, C., Loos, R.J., Kutalik, Z., Vermeulen, S., Kiemeney, L.A., and et al.
Abstract: Contains fulltext : 136406.pdf (publisher's version ) (Open Access), The phenotypic effect of some single nucleotide polymorphisms (SNPs) depends on their parental origin. We present a novel approach to detect parent-of-origin effects (POEs) in genome-wide genotype data of unrelated individuals. The method exploits increased phenotypic variance in the heterozygous genotype group relative to the homozygous groups. We applied the method to >56,000 unrelated individuals to search for POEs influencing body mass index (BMI). Six lead SNPs were carried forward for replication in five family-based studies (of approximately 4,000 trios). Two SNPs replicated: the paternal rs2471083-C allele (located near the imprinted KCNK9 gene) and the paternal rs3091869-T allele (located near the SLC2A10 gene) increased BMI equally (beta = 0.11 (SD), P<0.0027) compared to the respective maternal alleles. Real-time PCR experiments of lymphoblastoid cell lines from the CEPH families showed that expression of both genes was dependent on parental origin of the SNPs alleles (P<0.01). Our scheme opens new opportunities to exploit GWAS data of unrelated individuals to identify POEs and demonstrates that they play an important role in adult obesity.
Published: 2014

50. Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index.

Author: Generation Scotland Consortium, LifeLines Cohort study, GIANT Consortium, Hoggart, C.J., Venturini, G., Mangino, M., Gomez, F., Ascari, G., Zhao, J.H., Teumer, A., Winkler, T.W., Ternikova, N., Luan, J., Mihailov, E., Ehret, G.B., Zhang, W., Lamparter, D., Esko, T., Macé, A., Rüeger, S., Bochud, P.Y., Barcella, M., Dauvilliers, Y., Benyamin, B., Evans, D.M., Hayward, C., Lopez, M.F., Franke, L., Russo, A., Heid, I.M., Salvi, E., Vendantam, S., Arking, D.E., Boerwinkle, E., Chambers, J.C., Fiorito, G., Grallert, H., Guarrera, S., Homuth, G., Huffman, J.E., Porteous, D., Moradpour, D., Iranzo, A., Hebebrand, J., Kemp, J.P., Lammers, G.J., Aubert, V., Heim, M.H., Martin, N.G., Montgomery, G.W., Peraita-Adrados, R., Santamaria, J., Negro, F., Schmidt, C.O., Scott, R.A., Spector, T.D., Strauch, K., Völzke, H., Wareham, N.J., Yuan, W., Bell, J.T., Chakravarti, A., Kooner, J.S., Peters, A., Matullo, G., Wallaschofski, H., Whitfield, J.B., Paccaud, F., Vollenweider, P., Bergmann, S., Beckmann, J.S., Tafti, M., Hastie, N.D., Cusi, D., Bochud, M., Frayling, T.M., Metspalu, A., Jarvelin, M.R., Scherag, A., Smith, G.D., Borecki, I.B., Rousson, V., Hirschhorn, J.N., Rivolta, C., Loos, R.J., Kutalik, Z., Generation Scotland Consortium, LifeLines Cohort study, GIANT Consortium, Hoggart, C.J., Venturini, G., Mangino, M., Gomez, F., Ascari, G., Zhao, J.H., Teumer, A., Winkler, T.W., Ternikova, N., Luan, J., Mihailov, E., Ehret, G.B., Zhang, W., Lamparter, D., Esko, T., Macé, A., Rüeger, S., Bochud, P.Y., Barcella, M., Dauvilliers, Y., Benyamin, B., Evans, D.M., Hayward, C., Lopez, M.F., Franke, L., Russo, A., Heid, I.M., Salvi, E., Vendantam, S., Arking, D.E., Boerwinkle, E., Chambers, J.C., Fiorito, G., Grallert, H., Guarrera, S., Homuth, G., Huffman, J.E., Porteous, D., Moradpour, D., Iranzo, A., Hebebrand, J., Kemp, J.P., Lammers, G.J., Aubert, V., Heim, M.H., Martin, N.G., Montgomery, G.W., Peraita-Adrados, R., Santamaria, J., Negro, F., Schmidt, C.O., Scott, R.A., Spector, T.D., Strauch, K., Völzke, H., Wareham, N.J., Yuan, W., Bell, J.T., Chakravarti, A., Kooner, J.S., Peters, A., Matullo, G., Wallaschofski, H., Whitfield, J.B., Paccaud, F., Vollenweider, P., Bergmann, S., Beckmann, J.S., Tafti, M., Hastie, N.D., Cusi, D., Bochud, M., Frayling, T.M., Metspalu, A., Jarvelin, M.R., Scherag, A., Smith, G.D., Borecki, I.B., Rousson, V., Hirschhorn, J.N., Rivolta, C., Loos, R.J., and Kutalik, Z.
Abstract: The phenotypic effect of some single nucleotide polymorphisms (SNPs) depends on their parental origin. We present a novel approach to detect parent-of-origin effects (POEs) in genome-wide genotype data of unrelated individuals. The method exploits increased phenotypic variance in the heterozygous genotype group relative to the homozygous groups. We applied the method to >56,000 unrelated individuals to search for POEs influencing body mass index (BMI). Six lead SNPs were carried forward for replication in five family-based studies (of ∼4,000 trios). Two SNPs replicated: the paternal rs2471083-C allele (located near the imprinted KCNK9 gene) and the paternal rs3091869-T allele (located near the SLC2A10 gene) increased BMI equally (beta = 0.11 (SD), P<0.0027) compared to the respective maternal alleles. Real-time PCR experiments of lymphoblastoid cell lines from the CEPH families showed that expression of both genes was dependent on parental origin of the SNPs alleles (P<0.01). Our scheme opens new opportunities to exploit GWAS data of unrelated individuals to identify POEs and demonstrates that they play an important role in adult obesity.
Published: 2014

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