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19 results on '"Sanna, Marianna"'

1. 'Omics' studies in skin for ageing and cutaneous melanoma risk factors

Author

Sanna, Marianna and Falchi, Mario

Subjects
616.99
Abstract

Cutaneous melanoma incidence increases with age, although it also affects young patients. The most important risk factor for melanoma is naevus counts, which also shows an age-related pattern of onset and disappearance, with naevi usually decreasing in number after 35-40 years of age. Decreased naevus counts has been associated with markers of biological ageing such as decreased bone mineral density and reduced cognitive function. Interestingly, both melanoma and high naevus counts have been associated in several studies with increased telomere length, another important biomarker of biological age. Similarly, an intriguing positive association between melanoma risk and history of acne has also been recently proposed, with history of acne showing an association with increased telomere length. Taken together, this evidence suggests that an inverse relationship exists between biological age and melanoma risk. Late-onset melanoma has specific characteristics which set it apart from its early-onset form, including higher Breslow thickness and higher mitotic rate, which contribute to more dire prognosis. Skin ageing is likely to play a role in melanoma, and it is regulated by intrinsic mechanisms, including decreased lipid production, likely involved in a greater susceptibility of the skin to damage and disease; as well as extrinsic causes, such as sun exposure, which is also responsible for accelerated skin ageing and is a well-known melanoma risk factor. In this thesis, I present the analyses I have conducted during my PhD to investigate the relationship between melanoma and age. I began my investigations by analysing markers of biological age, i.e., acne history and naevus counts, and their regulation at the genetic and transcriptomic level. Then, I explored intrinsic and extrinsic factors involved in skin ageing. Firstly, I examined intrinsic causes by studying the age-related changes undergone by sebum lipids and by skin gene expression levels. Then, I moved towards extrinsic causes and explored the genetic mechanisms regulating sun-seeking behaviour. Through my research, I have identified a connection between acne history and the p53 signalling pathway, which may explain the link between acne and melanoma susceptibility. Then, by participating in a large Genome-wide association study (GWAS) meta-analysis, I contributed to the discovery of novel naevus-associated loci also having a pleiotropic effect on melanoma development. Beyond this, I identified which lipids are dysregulated with age, highlighting a network of lipid-related genes co- and over-expressed in younger individuals, likely under epigenetic regulation. Finally, I discovered that sun-seeking behaviour has a genetic basis, identifying five responsible genomic loci. In this thesis, I have not only helped broaden the knowledge of age-associated melanoma risk factors, I also contributed to the understanding of how an individual's behaviour can be shaped at the genetic level.

Published
2021

3. Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

Author

Landi, Maria Teresa, Bishop, D. Timothy, MacGregor, Stuart, Machiela, Mitchell J., Stratigos, Alexander J., Ghiorzo, Paola, Brossard, Myriam, Calista, Donato, Choi, Jiyeon, Fargnoli, Maria Concetta, Zhang, Tongwu, Rodolfo, Monica, Trower, Adam J., Menin, Chiara, Martinez, Jacobo, Hadjisavvas, Andreas, Song, Lei, Stefanaki, Irene, Scolyer, Richard, Yang, Rose, Goldstein, Alisa M., Potrony, Miriam, Kypreou, Katerina P., Pastorino, Lorenza, Queirolo, Paola, Pellegrini, Cristina, Cattaneo, Laura, Zawistowski, Matthew, Gimenez-Xavier, Pol, Rodriguez, Arantxa, Elefanti, Lisa, Manoukian, Siranoush, Rivoltini, Licia, Smith, Blair H., Loizidou, Maria A., Del Regno, Laura, Massi, Daniela, Mandala, Mario, Khosrotehrani, Kiarash, Akslen, Lars A., Amos, Christopher I., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Soyer, H. Peter, Bataille, Veronique, Dalmasso, Bruna, Bowdler, Lisa M., Burdon, Kathryn P., Chen, Wei V., Codd, Veryan, Craig, Jamie E., Dębniak, Tadeusz, Falchi, Mario, Fang, Shenying, Friedman, Eitan, Simi, Sarah, Galan, Pilar, Garcia-Casado, Zaida, Gillanders, Elizabeth M., Gordon, Scott, Green, Adele, Gruis, Nelleke A., Hansson, Johan, Harland, Mark, Harris, Jessica, Helsing, Per, Henders, Anjali, Hočevar, Marko, Höiom, Veronica, Hunter, David, Ingvar, Christian, Kumar, Rajiv, Lang, Julie, Lathrop, G. Mark, Lee, Jeffrey E., Li, Xin, Lubiński, Jan, Mackie, Rona M., Malt, Maryrose, Malvehy, Josep, McAloney, Kerrie, Mohamdi, Hamida, Molven, Anders, Moses, Eric K., Neale, Rachel E., Novaković, Srdjan, Nyholt, Dale R., Olsson, Håkan, Orr, Nicholas, Fritsche, Lars G., Puig-Butille, Joan Anton, Qureshi, Abrar A., Radford-Smith, Graham L., Randerson-Moor, Juliette, Requena, Celia, Rowe, Casey, Samani, Nilesh J., Sanna, Marianna, Schadendorf, Dirk, Schulze, Hans-Joachim, Simms, Lisa A., Smithers, Mark, Song, Fengju, Swerdlow, Anthony J., van der Stoep, Nienke, Kukutsch, Nicole A., Visconti, Alessia, Wallace, Leanne, Ward, Sarah V., Wheeler, Lawrie, Sturm, Richard A., Hutchinson, Amy, Jones, Kristine, Malasky, Michael, Vogt, Aurelie, Zhou, Weiyin, Pooley, Karen A., Elder, David E., Han, Jiali, Hicks, Belynda, Hayward, Nicholas K., Kanetsky, Peter A., Brummett, Chad, Montgomery, Grant W., Olsen, Catherine M., Hayward, Caroline, Dunning, Alison M., Martin, Nicholas G., Evangelou, Evangelos, Mann, Graham J., Long, Georgina, Pharoah, Paul D. P., Easton, Douglas F., Barrett, Jennifer H., Cust, Anne E., Abecasis, Goncalo, Duffy, David L., Whiteman, David C., Gogas, Helen, De Nicolo, Arcangela, Tucker, Margaret A., Newton-Bishop, Julia A., Peris, Ketty, Chanock, Stephen J., Demenais, Florence, Brown, Kevin M., Puig, Susana, Nagore, Eduardo, Shi, Jianxin, Iles, Mark M., and Law, Matthew H.

Published
2020
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4. Publisher Correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

Author

Duffy, David L., Zhu, Gu, Li, Xin, Sanna, Marianna, Iles, Mark M., Jacobs, Leonie C., Evans, David M., Yazar, Seyhan, Beesley, Jonathan, Law, Matthew H., Kraft, Peter, Visconti, Alessia, Taylor, John C., Liu, Fan, Wright, Margaret J., Henders, Anjali K., Bowdler, Lisa, Glass, Dan, Ikram, M. Arfan, Uitterlinden, André G., Madden, Pamela A., Heath, Andrew C., Nelson, Elliot C., Green, Adele C., Chanock, Stephen, Barrett, Jennifer H., Brown, Matthew A., Hayward, Nicholas K., MacGregor, Stuart, Sturm, Richard A., Hewitt, Alex W., Melanoma GWAS Consortium, Kayser, Manfred, Hunter, David J., Newton Bishop, Julia A., Spector, Timothy D., Montgomery, Grant W., Mackey, David A., Smith, George Davey, Nijsten, Tamar E., Bishop, D. Timothy, Bataille, Veronique, Falchi, Mario, Han, Jiali, and Martin, Nicholas G.

Published
2019
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5. Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

Author

Duffy, David L., Zhu, Gu, Li, Xin, Sanna, Marianna, Iles, Mark M., Jacobs, Leonie C., Evans, David M., Yazar, Seyhan, Beesley, Jonathan, Law, Matthew H., Kraft, Peter, Visconti, Alessia, Taylor, John C., Liu, Fan, Wright, Margaret J., Henders, Anjali K., Bowdler, Lisa, Glass, Dan, Ikram, M. Arfan, Uitterlinden, André G., Madden, Pamela A., Heath, Andrew C., Nelson, Elliot C., Green, Adele C., Chanock, Stephen, Barrett, Jennifer H., Brown, Matthew A., Hayward, Nicholas K., MacGregor, Stuart, Sturm, Richard A., Hewitt, Alex W., Melanoma GWAS Consortium, Kayser, Manfred, Hunter, David J., Newton Bishop, Julia A., Spector, Timothy D., Montgomery, Grant W., Mackey, David A., Smith, George Davey, Nijsten, Tamar E., Bishop, D. Timothy, Bataille, Veronique, Falchi, Mario, Han, Jiali, and Martin, Nicholas G.

Published
2018
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7. Publisher Correction::Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways (Nature Communications, (2018), 9, 1, (4774), 10.1038/s41467-018-06649-5)

Author

Duffy, David L., Zhu, Gu, Li, Xin, Sanna, Marianna, Iles, Mark M., Jacobs, Leonie C., Evans, David M., Yazar, Seyhan, Beesley, Jonathan, Law, Matthew H., Kraft, Peter, Visconti, Alessia, Taylor, John C., Liu, Fan, Wright, Margaret J., Henders, Anjali K., Bowdler, Lisa, Glass, Dan, Ikram, M. Arfan, Uitterlinden, André G., Madden, Pamela A., Heath, Andrew C., Nelson, Elliot C., Green, Adele C., Chanock, Stephen, Barrett, Jennifer H., Brown, Matthew A., Hayward, Nicholas K., MacGregor, Stuart, Sturm, Richard A., Hewitt, Alex W., Lee, Jeffrey E., Brossard, Myriam, Moses, Eric K., Song, Fengju, Kumar, Rajiv, Easton, Douglas F., Pharoah, Paul D.P., Swerdlow, Anthony J., Kypreou, Katerina P., Harland, Mark, Randerson-Moor, Juliette, Akslen, Lars A., Andresen, Per A., Avril, Marie Françoise, Azizi, Esther, Scarrà, Giovanna Bianchi, Brown, Kevin M., Dębniak, Tadeusz, and Smith, George Davey

Abstract

The original version of this Article contained errors in the spelling of the authors Fan Liu and M. Arfan Ikram, which were incorrectly given as Fan Lui and Arfan M. Ikram. In addition, the original version of this Article also contained errors in the author affiliations which are detailed in the associated Publisher Correction.

Published
2019
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8. Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways (vol 9, 4774, 2018)

Author

Duffy, David L. Zhu, Gu Li, Xin Sanna, Marianna Iles, Mark M. Jacobs, Leonie C. Evans, David M. Yazar, Seyhan and Beesley, Jonathan Law, Matthew H. Kraft, Peter Visconti, Alessia Taylor, John C. Liu, Fan Wright, Margaret J. and Henders, Anjali K. Bowdler, Lisa Glass, Dan Ikram, M. Arfan and Uitterlinden, Andre G. Madden, Pamela A. Heath, Andrew C. and Nelson, Elliot C. Green, Adele C. Chanock, Stephen and Barrett, Jennifer H. Brown, Matthew A. Hayward, Nicholas K. and MacGregor, Stuart Sturm, Richard A. Hewitt, Alex W. Kayser, Manfred Hunter, David J. Bishop, Julia A. Newton Spector, Timothy D. Montgomery, Grant W. Mackey, David A. Smith, George Davey Nijsten, Tamar E. Bishop, D. Timothy Bataille, Veronique Falchi, Mario Han, Jiali Martin, Nicholas G. and Lee, Jeffrey E. Brossard, Myriam Moses, Eric K. Song, Fengju and Kumar, Rajiv Easton, Douglas F. Pharoah, Paul D. P. and Swerdlow, Anthony J. Kypreou, Katerina P. Harland, Mark and Randerson-Moor, Juliette Akslen, Lars A. Andresen, Per A. and Avril, Marie-Francoise Azizi, Esther Scarra, Giovanna Bianchi and Brown, Kevin M. Debniak, Tadeusz Elder, David E. Fang, Shenying Friedman, Eitan Galan, Pilar Ghiorzo, Paola and Gillanders, Elizabeth M. Goldstein, Alisa M. Gruis, Nelleke A. and Hansson, Johan Helsing, Per Hocevar, Marko Hoiom, Veronica Ingvar, Christian Kanetsky, Peter A. Chen, Wei V. and Landi, Maria Teresa Lang, Julie Lathrop, G. Mark and Lubinski, Jan Mackie, Rona M. Mann, Graham J. Molven, Anders and Novakovic, Srdjan Olsson, Hakan Puig, Susana and Puig-Butille, Joan Anton Radford-Smith, Graham L. van der Stoep, Nienke van Doorn, Remco Whiteman, David C. Craig, Jamie E. and Schadendorf, Dirk Simms, Lisa A. Burdon, Kathryn P. and Nyholt, Dale R. Pooley, Karen A. Orr, Nicholas Stratigos, Alexander J. Cust, Anne E. Ward, Sarah V. Schulze, Hans-Joachim Dunning, Alison M. Demenais, Florence Amos, Christopher I. Melanoma GWAS Consortium

Published
2019

9. Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure (Supplementary Data)

Author

Visconti, Alessia, Duffy, David L, Liu, Fan, Zhu, Gu, Wu, Wenting, Cheng, Yan, Hysi, Pirro G, Zeng, Changqing, Sanna, Marianna, Iles, Mark M, Kanetsky, Peter A, Demenais, Florence, Hamer, Merel A, Uitterlinden, Andre G, Ikram, M Arfan, Nijsten, Tamar, Martin, Nicholas G, Kayser, Manfred, Spector, Tim D, Han, Jiali, Bataille, Veronique, and Falchi, Mario

Subjects
GWAS, ease of skin tanning
Abstract

Supplementary Data for the manuscript entitled "Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure", Visconti et al. The association summary statistics for the 10,834 genome-wide significant SNPs are provided as Supplementary Data 1. Genomic coordinates are reported in GRCh37.p13. The association summary statistics for the SNPs associated in the UKBB non-melanoma skin cancer GWAS (P < 1x10-5) are provided as Supplementary Data 2. Genomic coordinates are reported in GRCh37.p13. The cis-eQTLs identified in the three studied skin tissues, and available within the GTEx project, are provided as Supplementary Data 3. &nbsp

Published
2018
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12. Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

Author

Duffy, David, Zhu, Gu, Sanna, Marianna, Iles, Mark, Jacobs, Leonie, Evans, David, Yazar, Seyhan, Beesley, Jonathan, Law, Matthew, Kraft, Peter, Brown, Matthew, other, and, Duffy, David, Zhu, Gu, Sanna, Marianna, Iles, Mark, Jacobs, Leonie, Evans, David, Yazar, Seyhan, Beesley, Jonathan, Law, Matthew, Kraft, Peter, Brown, Matthew, and other, and

Abstract

The total number of acquired melanocytic nevi on the skin is strongly correlated with melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from Australia, Netherlands, UK, and USA comprising 52,506 individuals. We confirm known loci including MTAP, PLA2G6, and IRF4, and detect novel SNPs in KITLG and a region of 9q32. In a bivariate analysis combining the nevus results with a recent melanoma GWAS meta-analysis (12,874 cases, 23,203 controls), SNPs near GPRC5A, CYP1B1, PPARGC1B, HDAC4, FAM208B, DOCK8, and SYNE2 reached global significance, and other loci, including MIR146A and OBFC1, reached a suggestive level. Overall, we conclude that most nevus genes affect melanoma risk (KITLG an exception), while many melanoma risk loci do not alter nevus count. For example, variants in TERC and OBFC1 affect both traits, but other telomere length maintenance genes seem to affect melanoma risk only. Our findings implicate multiple pathways in nevogenesis.

Published
2018

13. Body site‐specific genetic effects influence naevus count distribution in women.

Author

Visconti, Alessia, Ribero, Simone, Sanna, Marianna, Spector, Tim D., Bataille, Veronique, and Falchi, Mario

Subjects
LEG, MELANOMA, COUNTING, INFLUENCE
Abstract

Body site is highly relevant for melanoma: it affects prognosis and varies according to the patient's sex. The distribution of naevi, a major risk factor for melanoma, at different body sites also varies according to sex in childhood. Using naevus counts at different body sites in 492 unrelated adults from both sexes, we observed that women have an increased number of naevi on the lower limbs compared to men (p = 8.5 × 10−5), showing that a high naevus count on this site persists from childhood throughout life. Then, using data from 3,232 twins, we observed, in women, the lowest naevus count heritability on the trunk (26%), and the highest on the lower limbs (69%). Finally, we showed that, in 2,864 women, six genomic loci previously associated with both naevus count and melanoma risk (IRF4, DOCK8, MTAP, 9q31.2, KITLG and PLA2G6) have an effect on naevus count that is body site‐specific, but whose effect sizes are predominantly stronger on the lower limbs. Sex‐specific genetic influence on naevus count at different sites may explain differences in site‐specific melanoma incidence as well as prognosis between sexes. [ABSTRACT FROM AUTHOR]

Published
2020
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14. Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure

Author

Visconti, Alessia, primary, Duffy, David L., additional, Liu, Fan, additional, Zhu, Gu, additional, Wu, Wenting, additional, Chen, Yan, additional, Hysi, Pirro G., additional, Zeng, Changqing, additional, Sanna, Marianna, additional, Iles, Mark M., additional, Kanetsky, Peter A., additional, Demenais, Florence, additional, Hamer, Merel A., additional, Uitterlinden, Andre G., additional, Ikram, M. Arfan, additional, Nijsten, Tamar, additional, Martin, Nicholas G., additional, Kayser, Manfred, additional, Spector, Tim D., additional, Han, Jiali, additional, Bataille, Veronique, additional, and Falchi, Mario, additional

Published
2018
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15. New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk

Author

Lu, Yingchang, Day, Felix R, Gustafsson, Stefan, Buchkovich, Martin L, Na, Jianbo, Bataille, Veronique, Cousminer, Diana L, Dastani, Zari, Drong, Alexander W, Esko, Tõnu, Evans, David M, Falchi, Mario, Feitosa, Mary F, Ferreira, Teresa, Hedman, Åsa K, Haring, Robin, Hysi, Pirro G, Iles, Mark M, Justice, Anne E, Kanoni, Stavroula, Lagou, Vasiliki, Li, Rui, Li, Xin, Locke, Adam, Lu, Chen, Mägi, Reedik, Perry, John R B, Pers, Tune H, Qi, Qibin, Sanna, Marianna, Schmidt, Ellen M, Scott, William R, Shungin, Dmitry, Teumer, Alexander, Vinkhuyzen, Anna A E, Walker, Ryan W, Westra, Harm-Jan, Zhang, Mingfeng, Zhang, Weihua, Zhao, Jing Hua, Zhu, Zhihong, Afzal, Uzma, Ahluwalia, Tarunveer Singh, Bakker, Stephan J L, Bellis, Claire, Bonnefond, Amélie, Borodulin, Katja, Buchman, Aron S, Cederholm, Tommy, Choh, Audrey C, Choi, Hyung Jin, Curran, Joanne E, de Groot, Lisette C P G M, De Jager, Philip L, Dhonukshe-Rutten, Rosalie A M, Enneman, Anke W, Eury, Elodie, Evans, Daniel S, Forsen, Tom, Friedrich, Nele, Fumeron, Frédéric, Garcia, Melissa E, Gärtner, Simone, Han, Bok-Ghee, Havulinna, Aki S, Hayward, Caroline, Hernandez, Dena, Hillege, Hans, Ittermann, Till, Kent, Jack W, Kolcic, Ivana, Laatikainen, Tiina, Lahti, Jari, Mateo Leach, Irene, Lee, Christine G, Lee, Jong-Young, Liu, Tian, Liu, Youfang, Lobbens, Stéphane, Loh, Marie, Lyytikäinen, Leo-Pekka, Medina-Gomez, Carolina, Michaëlsson, Karl, Nalls, Mike A, Nielson, Carrie M, Oozageer, Laticia, Pascoe, Laura, Paternoster, Lavinia, Polašek, Ozren, Ripatti, Samuli, Sarzynski, Mark A, Shin, Chan Soo, Narančić, Nina Smolej, Spira, Dominik, Srikanth, Priya, Steinhagen-Thiessen, Elisabeth, Sung, Yun Ju, Swart, Karin M A, Taittonen, Leena, Tanaka, Toshiko, Tikkanen, Emmi, van der Velde, Nathalie, van Schoor, Natasja M, Verweij, Niek, Wright, Alan F, Yu, Lei, Zmuda, Joseph M, Eklund, Niina, Forrester, Terrence, Grarup, Niels, Jackson, Anne U, Kristiansson, Kati, Kuulasmaa, Teemu, Kuusisto, Johanna, Lichtner, Peter, Luan, Jian'an, Mahajan, Anubha, Männistö, Satu, Palmer, Cameron D, Ried, Janina S, Scott, Robert A, Stancáková, Alena, Wagner, Peter J, Demirkan, Ayse, Döring, Angela, Gudnason, Vilmundur, Kiel, Douglas P, Kühnel, Brigitte, Mangino, Massimo, Mcknight, Barbara, Menni, Cristina, O'Connell, Jeffrey R, Oostra, Ben A, Shuldiner, Alan R, Song, Kijoung, Vandenput, Liesbeth, van Duijn, Cornelia M, Vollenweider, Peter, White, Charles C, Boehnke, Michael, Boettcher, Yvonne, Cooper, Richard S, Forouhi, Nita G, Gieger, Christian, Grallert, Harald, Hingorani, Aroon, Jørgensen, Torben, Jousilahti, Pekka, Kivimaki, Mika, Kumari, Meena, Laakso, Markku, Langenberg, Claudia, Linneberg, Allan, Luke, Amy, Mckenzie, Colin A, Palotie, Aarno, Pedersen, Oluf, Peters, Annette, Strauch, Konstantin, Tayo, Bamidele O, Wareham, Nicholas J, Bennett, David A, Bertram, Lars, Blangero, John, Blüher, Matthias, Bouchard, Claude, Campbell, Harry, Cho, Nam H, Cummings, Steven R, Czerwinski, Stefan A, Demuth, Ilja, Eckardt, Rahel, Eriksson, Johan G, Ferrucci, Luigi, Franco, Oscar H, Froguel, Philippe, Gansevoort, Ron T, Hansen, Torben, Harris, Tamara B, Hastie, Nicholas, Heliövaara, Markku, Hofman, Albert, Jordan, Joanne M, Jula, Antti, Kähönen, Mika, Kajantie, Eero, Knekt, Paul B, Koskinen, Seppo, Kovacs, Peter, Lehtimäki, Terho, Lind, Lars, Liu, Yongmei, Orwoll, Eric S, Osmond, Clive, Perola, Markus, Pérusse, Louis, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rice, Treva K, Rivadeneira, Fernando, Rudan, Igor, Salomaa, Veikko, Sørensen, Thorkild I A, Stumvoll, Michael, Tönjes, Anke, Towne, Bradford, Tranah, Gregory J, Tremblay, Angelo, Uitterlinden, André G, van der Harst, Pim, Vartiainen, Erkki, Viikari, Jorma S, Vitart, Veronique, Vohl, Marie-Claude, Völzke, Henry, Walker, Mark, Wallaschofski, Henri, Wild, Sarah, Wilson, James F, Yengo, Loïc, Bishop, D Timothy, Borecki, Ingrid B, Chambers, John C, Cupples, L Adrienne, Dehghan, Abbas, Deloukas, Panos, Fatemifar, Ghazaleh, Fox, Caroline, Furey, Terrence S, Franke, Lude, Han, Jiali, Hunter, David J, Karjalainen, Juha, Karpe, Fredrik, Kaplan, Robert C, Kooner, Jaspal S, McCarthy, Mark I, Murabito, Joanne M, Morris, Andrew P, Bishop, Julia A N, North, Kari E, Ohlsson, Claes, Ong, Ken K, Prokopenko, Inga, Richards, J Brent, Schadt, Eric E, Spector, Tim D, Widén, Elisabeth, Willer, Cristen J, Yang, Jian, Ingelsson, Erik, Mohlke, Karen L, Hirschhorn, Joel N, Pospisilik, John Andrew, Zillikens, M Carola, Lindgren, Cecilia, Kilpeläinen, Tuomas Oskari, Loos, Ruth J F, Lu, Yingchang, Day, Felix R, Gustafsson, Stefan, Buchkovich, Martin L, Na, Jianbo, Bataille, Veronique, Cousminer, Diana L, Dastani, Zari, Drong, Alexander W, Esko, Tõnu, Evans, David M, Falchi, Mario, Feitosa, Mary F, Ferreira, Teresa, Hedman, Åsa K, Haring, Robin, Hysi, Pirro G, Iles, Mark M, Justice, Anne E, Kanoni, Stavroula, Lagou, Vasiliki, Li, Rui, Li, Xin, Locke, Adam, Lu, Chen, Mägi, Reedik, Perry, John R B, Pers, Tune H, Qi, Qibin, Sanna, Marianna, Schmidt, Ellen M, Scott, William R, Shungin, Dmitry, Teumer, Alexander, Vinkhuyzen, Anna A E, Walker, Ryan W, Westra, Harm-Jan, Zhang, Mingfeng, Zhang, Weihua, Zhao, Jing Hua, Zhu, Zhihong, Afzal, Uzma, Ahluwalia, Tarunveer Singh, Bakker, Stephan J L, Bellis, Claire, Bonnefond, Amélie, Borodulin, Katja, Buchman, Aron S, Cederholm, Tommy, Choh, Audrey C, Choi, Hyung Jin, Curran, Joanne E, de Groot, Lisette C P G M, De Jager, Philip L, Dhonukshe-Rutten, Rosalie A M, Enneman, Anke W, Eury, Elodie, Evans, Daniel S, Forsen, Tom, Friedrich, Nele, Fumeron, Frédéric, Garcia, Melissa E, Gärtner, Simone, Han, Bok-Ghee, Havulinna, Aki S, Hayward, Caroline, Hernandez, Dena, Hillege, Hans, Ittermann, Till, Kent, Jack W, Kolcic, Ivana, Laatikainen, Tiina, Lahti, Jari, Mateo Leach, Irene, Lee, Christine G, Lee, Jong-Young, Liu, Tian, Liu, Youfang, Lobbens, Stéphane, Loh, Marie, Lyytikäinen, Leo-Pekka, Medina-Gomez, Carolina, Michaëlsson, Karl, Nalls, Mike A, Nielson, Carrie M, Oozageer, Laticia, Pascoe, Laura, Paternoster, Lavinia, Polašek, Ozren, Ripatti, Samuli, Sarzynski, Mark A, Shin, Chan Soo, Narančić, Nina Smolej, Spira, Dominik, Srikanth, Priya, Steinhagen-Thiessen, Elisabeth, Sung, Yun Ju, Swart, Karin M A, Taittonen, Leena, Tanaka, Toshiko, Tikkanen, Emmi, van der Velde, Nathalie, van Schoor, Natasja M, Verweij, Niek, Wright, Alan F, Yu, Lei, Zmuda, Joseph M, Eklund, Niina, Forrester, Terrence, Grarup, Niels, Jackson, Anne U, Kristiansson, Kati, Kuulasmaa, Teemu, Kuusisto, Johanna, Lichtner, Peter, Luan, Jian'an, Mahajan, Anubha, Männistö, Satu, Palmer, Cameron D, Ried, Janina S, Scott, Robert A, Stancáková, Alena, Wagner, Peter J, Demirkan, Ayse, Döring, Angela, Gudnason, Vilmundur, Kiel, Douglas P, Kühnel, Brigitte, Mangino, Massimo, Mcknight, Barbara, Menni, Cristina, O'Connell, Jeffrey R, Oostra, Ben A, Shuldiner, Alan R, Song, Kijoung, Vandenput, Liesbeth, van Duijn, Cornelia M, Vollenweider, Peter, White, Charles C, Boehnke, Michael, Boettcher, Yvonne, Cooper, Richard S, Forouhi, Nita G, Gieger, Christian, Grallert, Harald, Hingorani, Aroon, Jørgensen, Torben, Jousilahti, Pekka, Kivimaki, Mika, Kumari, Meena, Laakso, Markku, Langenberg, Claudia, Linneberg, Allan, Luke, Amy, Mckenzie, Colin A, Palotie, Aarno, Pedersen, Oluf, Peters, Annette, Strauch, Konstantin, Tayo, Bamidele O, Wareham, Nicholas J, Bennett, David A, Bertram, Lars, Blangero, John, Blüher, Matthias, Bouchard, Claude, Campbell, Harry, Cho, Nam H, Cummings, Steven R, Czerwinski, Stefan A, Demuth, Ilja, Eckardt, Rahel, Eriksson, Johan G, Ferrucci, Luigi, Franco, Oscar H, Froguel, Philippe, Gansevoort, Ron T, Hansen, Torben, Harris, Tamara B, Hastie, Nicholas, Heliövaara, Markku, Hofman, Albert, Jordan, Joanne M, Jula, Antti, Kähönen, Mika, Kajantie, Eero, Knekt, Paul B, Koskinen, Seppo, Kovacs, Peter, Lehtimäki, Terho, Lind, Lars, Liu, Yongmei, Orwoll, Eric S, Osmond, Clive, Perola, Markus, Pérusse, Louis, Raitakari, Olli T, Rankinen, Tuomo, Rao, D C, Rice, Treva K, Rivadeneira, Fernando, Rudan, Igor, Salomaa, Veikko, Sørensen, Thorkild I A, Stumvoll, Michael, Tönjes, Anke, Towne, Bradford, Tranah, Gregory J, Tremblay, Angelo, Uitterlinden, André G, van der Harst, Pim, Vartiainen, Erkki, Viikari, Jorma S, Vitart, Veronique, Vohl, Marie-Claude, Völzke, Henry, Walker, Mark, Wallaschofski, Henri, Wild, Sarah, Wilson, James F, Yengo, Loïc, Bishop, D Timothy, Borecki, Ingrid B, Chambers, John C, Cupples, L Adrienne, Dehghan, Abbas, Deloukas, Panos, Fatemifar, Ghazaleh, Fox, Caroline, Furey, Terrence S, Franke, Lude, Han, Jiali, Hunter, David J, Karjalainen, Juha, Karpe, Fredrik, Kaplan, Robert C, Kooner, Jaspal S, McCarthy, Mark I, Murabito, Joanne M, Morris, Andrew P, Bishop, Julia A N, North, Kari E, Ohlsson, Claes, Ong, Ken K, Prokopenko, Inga, Richards, J Brent, Schadt, Eric E, Spector, Tim D, Widén, Elisabeth, Willer, Cristen J, Yang, Jian, Ingelsson, Erik, Mohlke, Karen L, Hirschhorn, Joel N, Pospisilik, John Andrew, Zillikens, M Carola, Lindgren, Cecilia, Kilpeläinen, Tuomas Oskari, and Loos, Ruth J F

Abstract

To increase our understanding of the genetic basis of adiposity and its links to cardiometabolic disease risk, we conducted a genome-wide association meta-analysis of body fat percentage (BF%) in up to 100,716 individuals. Twelve loci reached genome-wide significance (P<5 × 10(-8)), of which eight were previously associated with increased overall adiposity (BMI, BF%) and four (in or near COBLL1/GRB14, IGF2BP1, PLA2G6, CRTC1) were novel associations with BF%. Seven loci showed a larger effect on BF% than on BMI, suggestive of a primary association with adiposity, while five loci showed larger effects on BMI than on BF%, suggesting association with both fat and lean mass. In particular, the loci more strongly associated with BF% showed distinct cross-phenotype association signatures with a range of cardiometabolic traits revealing new insights in the link between adiposity and disease risk.

Published
2016
Full Text
View/download PDF

16. New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk

Author

University of Helsinki, Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Clinicum, University of Helsinki, Institute of Behavioural Sciences, University of Helsinki, Hospital for Children and Adolescents, Lu, Yingchang, Day, Felix R., Gustafsson, Stefan, Buchkovich, Martin L., Na, Jianbo, Bataille, Veronique, Cousminer, Diana L., Dastani, Zari, Drong, Alexander W., Esko, Tonu, Evans, David M., Falchi, Mario, Feitosa, Mary F., Ferreira, Teresa, Hedman, Asa K., Haring, Robin, Hysi, Pirro G., Iles, Mark M., Justice, Anne E., Kanoni, Stavroula, Lagou, Vasiliki, Li, Rui, Li, Xin, Locke, Adam, Lu, Chen, Magi, Reedik, Perry, John R. B., Pers, Tune H., Qi, Qibin, Sanna, Marianna, Schmidt, Ellen M., Scott, William R., Shungin, Dmitry, Teumer, Alexander, Vinkhuyzen, Anna A. E., Walker, Ryan W., Westra, Harm-Jan, Zhang, Mingfeng, Zhang, Weihua, Zhao, Jing Hua, Zhu, Zhihong, Afzal, Uzma, Ahluwalia, Tarunveer Singh, Bakker, Stephan J. L., Bellis, Claire, Bonnefond, Amelie, Borodulin, Katja, Buchman, Aron S., Cederholm, Tommy, Choh, Audrey C., Choi, Hyung Jin, Curran, Joanne E., de Groot, Lisette C. P. G. M., De Jager, Philip L., Dhonukshe-Rutten, Rosalie A. M., Enneman, Anke W., Eury, Elodie, Evans, Daniel S., Forsen, Tom, Friedrich, Nele, Fumeron, Frederic, Garcia, Melissa E., Gartner, Simone, Han, Bok-Ghee, Havulinna, Aki S., Hayward, Caroline, Hernandez, Dena, Hillege, Hans, Ittermann, Till, Kent, Jack W., Kolcic, Ivana, Laatikainen, Tiina, Lahti, Jari, Leach, Irene Mateo, Lee, Christine G., Lee, Jong-Young, Liu, Tian, Liu, Youfang, Lobbens, Stephane, Loh, Marie, Lyytikainen, Leo-Pekka, Medina-Gomez, Carolina, Michaelsson, Karl, Nalls, Mike A., Nielson, Carrie M., Oozageer, Laticia, Pascoe, Laura, Paternoster, Lavinia, Polasek, Ozren, Ripatti, Samuli, Sarzynski, Mark A., Shin, Chan Soo, Narancic, Nina Smolej, Spira, Dominik, Srikanth, Priya, Steinhagen-Thiessen, Elisabeth, Sung, Yun Ju, Swart, Karin M. A., Taittonen, Leena, Tanaka, Toshiko, Tikkanen, Emmi, van der Velde, Nathalie, van Schoor, Natasja M., Verweij, Niek, Wright, Alan F., Yu, Lei, Zmuda, Joseph M., Pellikka, Niina, Forrester, Terrence, Grarup, Niels, Jackson, Anne U., Kristiansson, Kati, Kuulasmaa, Teemu, Kuusisto, Johanna, Lichtner, Peter, Luan, Jian'an, Mahajan, Anubha, Mannisto, Satu, Palmer, Cameron D., Ried, Janina S., Scott, Robert A., Stancakova, Alena, Wagner, Peter J., Demirkan, Ayse, Doring, Angela, Gudnason, Vilmundur, Kiel, Douglas P., Kuhnel, Brigitte, Mangino, Massimo, Mcknight, Barbara, Menni, Cristina, O'Connell, Jeffrey R., Oostra, Ben A., Shuldiner, Alan R., Song, Kijoung, Vandenput, Liesbeth, van Duijn, Cornelia M., Vollenweider, Peter, White, Charles C., Boehnke, Michael, Boettcher, Yvonne, Cooper, Richard S., Forouhi, Nita G., Gieger, Christian, Grallert, Harald, Hingorani, Aroon, Jorgensen, Torben, Jousilahti, Pekka, Kivimaki, Mika, Kumari, Meena, Laakso, Markku, Langenberg, Claudia, Linneberg, Allan, Luke, Amy, Mckenzie, Colin A., Palotie, Aarno, Pedersen, Oluf, Peters, Annette, Strauch, Konstantin, Tayo, Bamidele O., Wareham, Nicholas J., Bennett, David A., Bertram, Lars, Blangero, John, Bluher, Matthias, Bouchard, Claude, Campbell, Harry, Cho, Nam H., Cummings, Steven R., Czerwinski, Stefan A., Demuth, Ilja, Eckardt, Rahel, Eriksson, Johan G., Ferrucci, Luigi, Franco, Oscar H., Froguel, Philippe, Gansevoort, Ron T., Hansen, Torben, Harris, Tamara B., Hastie, Nicholas, Heliovaara, Markku, Hofman, Albert, Jordan, Joanne M., Jula, Antti, Kahonen, Mika, Kajantie, Eero, Knekt, Paul B., Koskinen, Seppo, Kovacs, Peter, Lehtimaki, Terho, Lind, Lars, Liu, Yongmei, Orwoll, Eric S., Osmond, Clive, Perola, Markus, Perusse, Louis, Raitakari, Olli T., Rankinen, Tuomo, Rao, D. C., Rice, Treva K., Rivadeneira, Fernando, Rudan, Igor, Salomaa, Veikko, Sorensen, Thorkild I. A., Stumvoll, Michael, Tonjes, Anke, Towne, Bradford, Tranah, Gregory J., Tremblay, Angelo, Uitterlinden, Andre G., van der Harst, Pim, Vartiainen, Erkki, Viikari, Jorma S., Vitart, Veronique, Vohl, Marie-Claude, Volzke, Henry, Walker, Mark, Wallaschofski, Henri, Wild, Sarah, Wilson, James F., Yengo, Loic, Bishop, D. Timothy, Borecki, Ingrid B., Chambers, John C., Cupples, L. Adrienne, Dehghan, Abbas, Deloukas, Panos, Fatemifar, Ghazaleh, Fox, Caroline, Furey, Terrence S., Franke, Lude, Han, Jiali, Hunter, David J., Karjalainen, Juha, Karpe, Fredrik, Kaplan, Robert C., Kooner, Jaspal S., McCarthy, Mark I., Murabito, Joanne M., Morris, Andrew P., Bishop, Julia A. N., North, Kari E., Ohlsson, Claes, Ong, Ken K., Prokopenko, Inga, Richards, J. Brent, Schadt, Eric E., Spector, Tim D., Widen, Elisabeth, Willer, Cristen J., Yang, Jian, Ingelsson, Erik, Mohlke, Karen L., Hirschhorn, Joel N., Pospisilik, John Andrew, Zillikens, M. Carola, Lindgren, Cecilia, Kilpelainen, Tuomas Oskari, Loos, Ruth J. F., University of Helsinki, Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Clinicum, University of Helsinki, Institute of Behavioural Sciences, University of Helsinki, Hospital for Children and Adolescents, Lu, Yingchang, Day, Felix R., Gustafsson, Stefan, Buchkovich, Martin L., Na, Jianbo, Bataille, Veronique, Cousminer, Diana L., Dastani, Zari, Drong, Alexander W., Esko, Tonu, Evans, David M., Falchi, Mario, Feitosa, Mary F., Ferreira, Teresa, Hedman, Asa K., Haring, Robin, Hysi, Pirro G., Iles, Mark M., Justice, Anne E., Kanoni, Stavroula, Lagou, Vasiliki, Li, Rui, Li, Xin, Locke, Adam, Lu, Chen, Magi, Reedik, Perry, John R. B., Pers, Tune H., Qi, Qibin, Sanna, Marianna, Schmidt, Ellen M., Scott, William R., Shungin, Dmitry, Teumer, Alexander, Vinkhuyzen, Anna A. E., Walker, Ryan W., Westra, Harm-Jan, Zhang, Mingfeng, Zhang, Weihua, Zhao, Jing Hua, Zhu, Zhihong, Afzal, Uzma, Ahluwalia, Tarunveer Singh, Bakker, Stephan J. L., Bellis, Claire, Bonnefond, Amelie, Borodulin, Katja, Buchman, Aron S., Cederholm, Tommy, Choh, Audrey C., Choi, Hyung Jin, Curran, Joanne E., de Groot, Lisette C. P. G. M., De Jager, Philip L., Dhonukshe-Rutten, Rosalie A. M., Enneman, Anke W., Eury, Elodie, Evans, Daniel S., Forsen, Tom, Friedrich, Nele, Fumeron, Frederic, Garcia, Melissa E., Gartner, Simone, Han, Bok-Ghee, Havulinna, Aki S., Hayward, Caroline, Hernandez, Dena, Hillege, Hans, Ittermann, Till, Kent, Jack W., Kolcic, Ivana, Laatikainen, Tiina, Lahti, Jari, Leach, Irene Mateo, Lee, Christine G., Lee, Jong-Young, Liu, Tian, Liu, Youfang, Lobbens, Stephane, Loh, Marie, Lyytikainen, Leo-Pekka, Medina-Gomez, Carolina, Michaelsson, Karl, Nalls, Mike A., Nielson, Carrie M., Oozageer, Laticia, Pascoe, Laura, Paternoster, Lavinia, Polasek, Ozren, Ripatti, Samuli, Sarzynski, Mark A., Shin, Chan Soo, Narancic, Nina Smolej, Spira, Dominik, Srikanth, Priya, Steinhagen-Thiessen, Elisabeth, Sung, Yun Ju, Swart, Karin M. A., Taittonen, Leena, Tanaka, Toshiko, Tikkanen, Emmi, van der Velde, Nathalie, van Schoor, Natasja M., Verweij, Niek, Wright, Alan F., Yu, Lei, Zmuda, Joseph M., Pellikka, Niina, Forrester, Terrence, Grarup, Niels, Jackson, Anne U., Kristiansson, Kati, Kuulasmaa, Teemu, Kuusisto, Johanna, Lichtner, Peter, Luan, Jian'an, Mahajan, Anubha, Mannisto, Satu, Palmer, Cameron D., Ried, Janina S., Scott, Robert A., Stancakova, Alena, Wagner, Peter J., Demirkan, Ayse, Doring, Angela, Gudnason, Vilmundur, Kiel, Douglas P., Kuhnel, Brigitte, Mangino, Massimo, Mcknight, Barbara, Menni, Cristina, O'Connell, Jeffrey R., Oostra, Ben A., Shuldiner, Alan R., Song, Kijoung, Vandenput, Liesbeth, van Duijn, Cornelia M., Vollenweider, Peter, White, Charles C., Boehnke, Michael, Boettcher, Yvonne, Cooper, Richard S., Forouhi, Nita G., Gieger, Christian, Grallert, Harald, Hingorani, Aroon, Jorgensen, Torben, Jousilahti, Pekka, Kivimaki, Mika, Kumari, Meena, Laakso, Markku, Langenberg, Claudia, Linneberg, Allan, Luke, Amy, Mckenzie, Colin A., Palotie, Aarno, Pedersen, Oluf, Peters, Annette, Strauch, Konstantin, Tayo, Bamidele O., Wareham, Nicholas J., Bennett, David A., Bertram, Lars, Blangero, John, Bluher, Matthias, Bouchard, Claude, Campbell, Harry, Cho, Nam H., Cummings, Steven R., Czerwinski, Stefan A., Demuth, Ilja, Eckardt, Rahel, Eriksson, Johan G., Ferrucci, Luigi, Franco, Oscar H., Froguel, Philippe, Gansevoort, Ron T., Hansen, Torben, Harris, Tamara B., Hastie, Nicholas, Heliovaara, Markku, Hofman, Albert, Jordan, Joanne M., Jula, Antti, Kahonen, Mika, Kajantie, Eero, Knekt, Paul B., Koskinen, Seppo, Kovacs, Peter, Lehtimaki, Terho, Lind, Lars, Liu, Yongmei, Orwoll, Eric S., Osmond, Clive, Perola, Markus, Perusse, Louis, Raitakari, Olli T., Rankinen, Tuomo, Rao, D. C., Rice, Treva K., Rivadeneira, Fernando, Rudan, Igor, Salomaa, Veikko, Sorensen, Thorkild I. A., Stumvoll, Michael, Tonjes, Anke, Towne, Bradford, Tranah, Gregory J., Tremblay, Angelo, Uitterlinden, Andre G., van der Harst, Pim, Vartiainen, Erkki, Viikari, Jorma S., Vitart, Veronique, Vohl, Marie-Claude, Volzke, Henry, Walker, Mark, Wallaschofski, Henri, Wild, Sarah, Wilson, James F., Yengo, Loic, Bishop, D. Timothy, Borecki, Ingrid B., Chambers, John C., Cupples, L. Adrienne, Dehghan, Abbas, Deloukas, Panos, Fatemifar, Ghazaleh, Fox, Caroline, Furey, Terrence S., Franke, Lude, Han, Jiali, Hunter, David J., Karjalainen, Juha, Karpe, Fredrik, Kaplan, Robert C., Kooner, Jaspal S., McCarthy, Mark I., Murabito, Joanne M., Morris, Andrew P., Bishop, Julia A. N., North, Kari E., Ohlsson, Claes, Ong, Ken K., Prokopenko, Inga, Richards, J. Brent, Schadt, Eric E., Spector, Tim D., Widen, Elisabeth, Willer, Cristen J., Yang, Jian, Ingelsson, Erik, Mohlke, Karen L., Hirschhorn, Joel N., Pospisilik, John Andrew, Zillikens, M. Carola, Lindgren, Cecilia, Kilpelainen, Tuomas Oskari, and Loos, Ruth J. F.

Abstract

To increase our understanding of the genetic basis of adiposity and its links to cardiometabolic disease risk, we conducted a genome-wide association meta-analysis of body fat percentage (BF%) in up to 100,716 individuals. Twelve loci reached genome-wide significance (P <5 x 10(-8)), of which eight were previously associated with increased overall adiposity (BMI, BF%) and four (in or near COBLL1/GRB14, IGF2BP1, PLA2G6, CRTC1) were novel associations with BF%. Seven loci showed a larger effect on BF% than on BMI, suggestive of a primary association with adiposity, while five loci showed larger effects on BMI than on BF%, suggesting association with both fat and lean mass. In particular, the loci more strongly associated with BF% showed distinct cross-phenotype association signatures with a range of cardiometabolic traits revealing new insights in the link between adiposity and disease risk.

Published
2016

17. New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk

Author

Lu, Yingchang, primary, Day, Felix R., additional, Gustafsson, Stefan, additional, Buchkovich, Martin L., additional, Na, Jianbo, additional, Bataille, Veronique, additional, Cousminer, Diana L., additional, Dastani, Zari, additional, Drong, Alexander W., additional, Esko, Tõnu, additional, Evans, David M., additional, Falchi, Mario, additional, Feitosa, Mary F., additional, Ferreira, Teresa, additional, Hedman, Åsa K., additional, Haring, Robin, additional, Hysi, Pirro G., additional, Iles, Mark M., additional, Justice, Anne E., additional, Kanoni, Stavroula, additional, Lagou, Vasiliki, additional, Li, Rui, additional, Li, Xin, additional, Locke, Adam, additional, Lu, Chen, additional, Mägi, Reedik, additional, Perry, John R. B., additional, Pers, Tune H., additional, Qi, Qibin, additional, Sanna, Marianna, additional, Schmidt, Ellen M., additional, Scott, William R., additional, Shungin, Dmitry, additional, Teumer, Alexander, additional, Vinkhuyzen, Anna A. E., additional, Walker, Ryan W., additional, Westra, Harm-Jan, additional, Zhang, Mingfeng, additional, Zhang, Weihua, additional, Zhao, Jing Hua, additional, Zhu, Zhihong, additional, Afzal, Uzma, additional, Ahluwalia, Tarunveer Singh, additional, Bakker, Stephan J. L., additional, Bellis, Claire, additional, Bonnefond, Amélie, additional, Borodulin, Katja, additional, Buchman, Aron S., additional, Cederholm, Tommy, additional, Choh, Audrey C., additional, Choi, Hyung Jin, additional, Curran, Joanne E., additional, de Groot, Lisette C. P. G. M., additional, De Jager, Philip L., additional, Dhonukshe-Rutten, Rosalie A. M., additional, Enneman, Anke W., additional, Eury, Elodie, additional, Evans, Daniel S., additional, Forsen, Tom, additional, Friedrich, Nele, additional, Fumeron, Frédéric, additional, Garcia, Melissa E., additional, Gärtner, Simone, additional, Han, Bok-Ghee, additional, Havulinna, Aki S., additional, Hayward, Caroline, additional, Hernandez, Dena, additional, Hillege, Hans, additional, Ittermann, Till, additional, Kent, Jack W., additional, Kolcic, Ivana, additional, Laatikainen, Tiina, additional, Lahti, Jari, additional, Leach, Irene Mateo, additional, Lee, Christine G., additional, Lee, Jong-Young, additional, Liu, Tian, additional, Liu, Youfang, additional, Lobbens, Stéphane, additional, Loh, Marie, additional, Lyytikäinen, Leo-Pekka, additional, Medina-Gomez, Carolina, additional, Michaëlsson, Karl, additional, Nalls, Mike A., additional, Nielson, Carrie M., additional, Oozageer, Laticia, additional, Pascoe, Laura, additional, Paternoster, Lavinia, additional, Polašek, Ozren, additional, Ripatti, Samuli, additional, Sarzynski, Mark A., additional, Shin, Chan Soo, additional, Narančić, Nina Smolej, additional, Spira, Dominik, additional, Srikanth, Priya, additional, Steinhagen-Thiessen, Elisabeth, additional, Sung, Yun Ju, additional, Swart, Karin M. A., additional, Taittonen, Leena, additional, Tanaka, Toshiko, additional, Tikkanen, Emmi, additional, van der Velde, Nathalie, additional, van Schoor, Natasja M., additional, Verweij, Niek, additional, Wright, Alan F., additional, Yu, Lei, additional, Zmuda, Joseph M., additional, Eklund, Niina, additional, Forrester, Terrence, additional, Grarup, Niels, additional, Jackson, Anne U., additional, Kristiansson, Kati, additional, Kuulasmaa, Teemu, additional, Kuusisto, Johanna, additional, Lichtner, Peter, additional, Luan, Jian'an, additional, Mahajan, Anubha, additional, Männistö, Satu, additional, Palmer, Cameron D., additional, Ried, Janina S., additional, Scott, Robert A., additional, Stancáková, Alena, additional, Wagner, Peter J., additional, Demirkan, Ayse, additional, Döring, Angela, additional, Gudnason, Vilmundur, additional, Kiel, Douglas P., additional, Kühnel, Brigitte, additional, Mangino, Massimo, additional, Mcknight, Barbara, additional, Menni, Cristina, additional, O'Connell, Jeffrey R., additional, Oostra, Ben A., additional, Shuldiner, Alan R., additional, Song, Kijoung, additional, Vandenput, Liesbeth, additional, van Duijn, Cornelia M., additional, Vollenweider, Peter, additional, White, Charles C., additional, Boehnke, Michael, additional, Boettcher, Yvonne, additional, Cooper, Richard S., additional, Forouhi, Nita G., additional, Gieger, Christian, additional, Grallert, Harald, additional, Hingorani, Aroon, additional, Jørgensen, Torben, additional, Jousilahti, Pekka, additional, Kivimaki, Mika, additional, Kumari, Meena, additional, Laakso, Markku, additional, Langenberg, Claudia, additional, Linneberg, Allan, additional, Luke, Amy, additional, Mckenzie, Colin A., additional, Palotie, Aarno, additional, Pedersen, Oluf, additional, Peters, Annette, additional, Strauch, Konstantin, additional, Tayo, Bamidele O., additional, Wareham, Nicholas J., additional, Bennett, David A., additional, Bertram, Lars, additional, Blangero, John, additional, Blüher, Matthias, additional, Bouchard, Claude, additional, Campbell, Harry, additional, Cho, Nam H., additional, Cummings, Steven R., additional, Czerwinski, Stefan A., additional, Demuth, Ilja, additional, Eckardt, Rahel, additional, Eriksson, Johan G., additional, Ferrucci, Luigi, additional, Franco, Oscar H., additional, Froguel, Philippe, additional, Gansevoort, Ron T., additional, Hansen, Torben, additional, Harris, Tamara B., additional, Hastie, Nicholas, additional, Heliövaara, Markku, additional, Hofman, Albert, additional, Jordan, Joanne M., additional, Jula, Antti, additional, Kähönen, Mika, additional, Kajantie, Eero, additional, Knekt, Paul B., additional, Koskinen, Seppo, additional, Kovacs, Peter, additional, Lehtimäki, Terho, additional, Lind, Lars, additional, Liu, Yongmei, additional, Orwoll, Eric S., additional, Osmond, Clive, additional, Perola, Markus, additional, Pérusse, Louis, additional, Raitakari, Olli T., additional, Rankinen, Tuomo, additional, Rao, D. C., additional, Rice, Treva K., additional, Rivadeneira, Fernando, additional, Rudan, Igor, additional, Salomaa, Veikko, additional, Sørensen, Thorkild I. A., additional, Stumvoll, Michael, additional, Tönjes, Anke, additional, Towne, Bradford, additional, Tranah, Gregory J., additional, Tremblay, Angelo, additional, Uitterlinden, André G., additional, van der Harst, Pim, additional, Vartiainen, Erkki, additional, Viikari, Jorma S., additional, Vitart, Veronique, additional, Vohl, Marie-Claude, additional, Völzke, Henry, additional, Walker, Mark, additional, Wallaschofski, Henri, additional, Wild, Sarah, additional, Wilson, James F., additional, Yengo, Loïc, additional, Bishop, D. Timothy, additional, Borecki, Ingrid B., additional, Chambers, John C., additional, Cupples, L. Adrienne, additional, Dehghan, Abbas, additional, Deloukas, Panos, additional, Fatemifar, Ghazaleh, additional, Fox, Caroline, additional, Furey, Terrence S., additional, Franke, Lude, additional, Han, Jiali, additional, Hunter, David J., additional, Karjalainen, Juha, additional, Karpe, Fredrik, additional, Kaplan, Robert C., additional, Kooner, Jaspal S., additional, McCarthy, Mark I., additional, Murabito, Joanne M., additional, Morris, Andrew P., additional, Bishop, Julia A. N., additional, North, Kari E., additional, Ohlsson, Claes, additional, Ong, Ken K., additional, Prokopenko, Inga, additional, Richards, J. Brent, additional, Schadt, Eric E., additional, Spector, Tim D., additional, Widén, Elisabeth, additional, Willer, Cristen J., additional, Yang, Jian, additional, Ingelsson, Erik, additional, Mohlke, Karen L., additional, Hirschhorn, Joel N., additional, Pospisilik, John Andrew, additional, Zillikens, M. Carola, additional, Lindgren, Cecilia, additional, Kilpeläinen, Tuomas Oskari, additional, and Loos, Ruth J. F., additional

Published
2016
Full Text
View/download PDF

18. Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

Author

Duffy, David L, Zhu, Gu, Li, Xin, Sanna, Marianna, Iles, Mark M, Jacobs, Leonie C, Evans, David M, Yazar, Seyhan, Beesley, Jonathan, Law, Matthew H, Kraft, Peter, Visconti, Alessia, Taylor, John C, Lui, Fan, Wright, Margaret J, Henders, Anjali K, Bowdler, Lisa, Glass, Dan, Ikram, Arfan M, Uitterlinden, André G, Madden, Pamela A, Heath, Andrew C, Nelson, Elliot C, Green, Adele C, Chanock, Stephen, Barrett, Jennifer H, Brown, Matthew A, Hayward, Nicholas K, MacGregor, Stuart, Sturm, Richard A, Hewitt, Alex W, Melanoma GWAS Consortium, Kayser, Manfred, Hunter, David J, Newton Bishop, Julia A, Spector, Timothy D, Montgomery, Grant W, Mackey, David A, Smith, George Davey, Nijsten, Tamar E, Bishop, D Timothy, Bataille, Veronique, Falchi, Mario, Han, Jiali, and Martin, Nicholas G

Subjects
Skin Neoplasms, Telomere-Binding Proteins, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Histone Deacetylases, White People, Receptors, G-Protein-Coupled, Group VI Phospholipases A2, Guanine Nucleotide Exchange Factors, Humans, Genetic Predisposition to Disease, skin and connective tissue diseases, Melanoma, Telomerase, Nevus, Pigmented, Stem Cell Factor, Microfilament Proteins, Nuclear Proteins, RNA-Binding Proteins, Genetic Pleiotropy, 3. Good health, Repressor Proteins, MicroRNAs, Cytochrome P-450 CYP1B1, Interferon Regulatory Factors, RNA, Carrier Proteins, Genome-Wide Association Study
Abstract

The total number of acquired melanocytic nevi on the skin is strongly correlated with melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from Australia, Netherlands, UK, and USA comprising 52,506 individuals. We confirm known loci including MTAP, PLA2G6, and IRF4, and detect novel SNPs in KITLG and a region of 9q32. In a bivariate analysis combining the nevus results with a recent melanoma GWAS meta-analysis (12,874 cases, 23,203 controls), SNPs near GPRC5A, CYP1B1, PPARGC1B, HDAC4, FAM208B, DOCK8, and SYNE2 reached global significance, and other loci, including MIR146A and OBFC1, reached a suggestive level. Overall, we conclude that most nevus genes affect melanoma risk (KITLG an exception), while many melanoma risk loci do not alter nevus count. For example, variants in TERC and OBFC1 affect both traits, but other telomere length maintenance genes seem to affect melanoma risk only. Our findings implicate multiple pathways in nevogenesis.

19. New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk

Author

Loos, Ruth J. F., Kanoni, Stavroula, Fatemifar, Ghazaleh, Laatikainen, Tiina, Menni, Cristina, Lu, Yingchang, Vinkhuyzen, Anna A. E., Blüher, Matthias, Mägi, Reedik, Harris, Tamara B., Ahluwalia, Tarunveer Singh, Cederholm, Tommy, Leach, Irene Mateo, Perry, John R. B., Dehghan, Abbas, Luan, Jian'an, De Jager, Philip L., Spector, Tim D., Eriksson, Johan G., Friedrich, Nele, Wareham, Nicholas J., Hillege, Hans, Bishop, D. Timothy, McKenzie, Colin A., Jula, Antti, Boehnke, Michael, Justice, Anne E., Döring, Angela, Dhonukshe-Rutten, Rosalie A. M., Spira, Dominik, Esko, Toñu, Rudan, Igor, Stumvoll, Michael, Loh, Marie, Palmer, Cameron D., Czerwinski, Stefan A., Fumeron, Frédéric, Vartiainen, Erkki, Bouchard, Claude, Forouhi, Nita G., Kovacs, Peter, Liu, Tian, Bertram, Lars, Lichtner, Peter, Havulinna, Aki S., Widén, Elisabeth, Sung, Yun Ju, Kähönen, Mika, Kumari, Meena, Choi, Hyung Jin, Knekt, Paul B., Srikanth, Priya, Hansen, Torben, Lyytikaïnen, Leo-Pekka, Forrester, Terrence, Schadt, Eric E., Van Der Velde, Nathalie, Zhu, Zhihong, Kiel, Douglas P., Li, Xin, Orwoll, Eric S., Langenberg, Claudia, Pérusse, Louis, Ohlsson, Claes, Franke, Lude, Buchkovich, Martin L., Van Duijn, Cornelia M., Naranäiä, Nina Smolej, Cho, Nam H., Enneman, Anke W., Viikari, Jorma S., Vohl, Marie-Claude, Peters, Annette, Heliövaara, Markku, Cousminer, Diana L., Vandenput, Liesbeth, Day, Felix R., Eckardt, Rahel, Uitterlinden, André G., Palotie, Aarno, Nielson, Carrie M., Raitakari, Olli T., Fox, Caroline, Bishop, Julia A. N., Murabito, Joanne M., Hysi, Pirro G., Verweij, Niek, Rice, Treva K., Michaëlsson, Karl, Sarzynski, Mark A., Wright, Alan F., Cupples, L. Adrienne, Kent, Jack W., Luke, Amy, Karpe, Fredrik, Gansevoort, Ron T., Lobbens, Stéphane, Männistö, Satu, Na, Jianbo, Blangero, John, Qi, Qibin, Schmidt, Ellen M., Gärtner, Simone, Tayo, Bamidele O., Yang, Jian, Campbell, Harry, Pers, Tune H., Taittonen, Leena, Jackson, Anne U., Oostra, Ben A., Hayward, Caroline, Osmond, Clive, Han, Bok-Ghee, Tanaka, Toshiko, Swart, Karin M. A., Morris, Andrew P., Cooper, Richard S., McCarthy, Mark I., Wilson, James F., Yengo, Loïc, Lind, Lars, Gustafsson, Stefan, Curran, Joanne E., Zhang, Weihua, Boettcher, Yvonne, Salomaa, Veikko, Hunter, David J., Wallaschofski, Henri, Bataille, Veronique, Strauch, Konstantin, Pospisilik, John Andrew, Zmuda, Joseph M., Jørgensen, Torben, Tikkanen, Emmi, Kajantie, Eero, Rao, Karjalainen, Juha, Ried, Janina S., Lehtimäki, Terho, Jousilahti, Pekka, Kooner, Jaspal S., Ferreira, Teresa, Hingorani, Aroon, Oozageer, Laticia, Scott, William R., Buchman, Aron S., Kristiansson, Kati, Demuth, Ilja, Falchi, Mario, Bennett, David A., Haring, Robin, Demirkan, Ayse, Walker, Ryan W., Kivimaki, Mika, Borecki, Ingrid B., Liu, Youfang, Choh, Audrey C., Furey, Terrence S., Koskinen, Seppo, Kuulasmaa, Teemu, Drong, Alexander W., Li, Rui, Shuldiner, Alan R., Kuusisto, Johanna, Sørensen, Thorkild I. A., McKnight, Barbara, Rivadeneira, Fernando, Ingelsson, Erik, Hofman, Albert, Linneberg, Allan, Rankinen, Tuomo, Tönjes, Anke, North, Kari E., O'Connell, Jeffrey R., Hastie, Nicholas, Vollenweider, Peter, De Groot, Lisette C. P. G. M., Paternoster, Lavinia, Mahajan, Anubha, Richards, J. Brent, Kaplan, Robert C., Eklund, Niina, Gudnason, Vilmundur, Deloukas, Panos, Kühnel, Brigitte, Han, Jiali, Scott, Robert A., Grarup, Niels, Garcia, Melissa E., Nalls, Mike A., Song, Kijoung, Lindgren, Cecilia, Wagner, Peter J., Franco, Oscar H., Perola, Markus, Evans, David M., Evans, Daniel S., Tranah, Gregory J., Grallert, Harald, Iles, Mark M., Westra, Harm-Jan, Dastani, Zari, Zhang, Mingfeng, Lee, Jong-Young, Vitart, Veronique, Kilpelaïnen, Tuomas Oskari, Wild, Sarah, Pascoe, Laura, Borodulin, Katja, Tremblay, Angelo, Hernandez, Dena, Lu, Chen, Chambers, John C., Ong, Ken K., Hedman, Åsa K., Afzal, Uzma, Froguel, Philippe, Yu, Lei, Pedersen, Oluf, Zillikens, M. Carola, Bellis, Claire, Shungin, Dmitry, Liu, Yongmei, Shin, Chan Soo, Gieger, Christian, Forsen, Tom, Ferrucci, Luigi, Lee, Christine G., Hirschhorn, Joel N., Laakso, Markku, Prokopenko, Inga, Mohlke, Karen L., Sanna, Marianna, Cummings, Steven R., Stancáková, Alena, Medina-Gomez, Carolina, Eury, Elodie, Ripatti, Samuli, Feitosa, Mary F., Van Schoor, Natasja M., Walker, Mark, Bakker, Stephan J. L., Van Der Harst, Pim, Locke, Adam, Lahti, Jari, Willer, Cristen J., White, Charles C., Jordan, Joanne M., Steinhagen-Thiessen, Elisabeth, Kolcic, Ivana, Mangino, Massimo, Towne, Bradford, Bonnefond, Amélie, Zhao, Jing Hua, Polašek, Ozren, Ittermann, Till, Völzke, Henry, Lagou, Vasiliki, and Teumer, Alexander

Subjects
3. Good health
Abstract

To increase our understanding of the genetic basis of adiposity and its links to cardiometabolic disease risk, we conducted a genome-wide association meta-analysis of body fat percentage (BF%) in up to 100,716 individuals. Twelve loci reached genome-wide significance (P

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