Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Autor: Stavroula Kanoni, Sarah E. Graham, Yuxuan Wang, Ida Surakka, Shweta Ramdas, Xiang Zhu, Shoa L. Clarke, Konain Fatima Bhatti, Sailaja Vedantam, Thomas W. Winkler, Adam E. Locke, Eirini Marouli, Greg J. M. Zajac, Kuan-Han H. Wu, Ioanna Ntalla, Qin Hui, Derek Klarin, Austin T. Hilliard, Zeyuan Wang, Chao Xue, Gudmar Thorleifsson, Anna Helgadottir, Daniel F. Gudbjartsson, Hilma Holm, Isleifur Olafsson, Mi Yeong Hwang, Sohee Han, Masato Akiyama, Saori Sakaue, Chikashi Terao, Masahiro Kanai, Wei Zhou, Ben M. Brumpton, Humaira Rasheed, Aki S. Havulinna, Yogasudha Veturi, Jennifer Allen Pacheco, Elisabeth A. Rosenthal, Todd Lingren, QiPing Feng, Iftikhar J. Kullo, Akira Narita, Jun Takayama, Hilary C. Martin, Karen A. Hunt, Bhavi Trivedi, Jeffrey Haessler, Franco Giulianini, Yuki Bradford, Jason E. Miller, Archie Campbell, Kuang Lin, Iona Y. Millwood, Asif Rasheed, George Hindy, Jessica D. Faul, Wei Zhao, David R. Weir, Constance Turman, Hongyan Huang, Mariaelisa Graff, Ananyo Choudhury, Dhriti Sengupta, Anubha Mahajan, Michael R. Brown, Weihua Zhang, Ketian Yu, Ellen M. Schmidt, Anita Pandit, Stefan Gustafsson, Xianyong Yin, Jian’an Luan, Jing-Hua Zhao, Fumihiko Matsuda, Hye-Mi Jang, Kyungheon Yoon, Carolina Medina-Gomez, Achilleas Pitsillides, Jouke Jan Hottenga, Andrew R. Wood, Yingji Ji, Zishan Gao, Simon Haworth, Noha A. Yousri, Ruth E. Mitchell, Jin Fang Chai, Mette Aadahl, Anne A. Bjerregaard, Jie Yao, Ani Manichaikul, Chii-Min Hwu, Yi-Jen Hung, Helen R. Warren, Julia Ramirez, Jette Bork-Jensen, Line L. Kårhus, Anuj Goel, Maria Sabater-Lleal, Raymond Noordam, Pala Mauro, Floris Matteo, Aaron F. McDaid, Pedro Marques-Vidal, Matthias Wielscher, Stella Trompet, Naveed Sattar, Line T. Møllehave, Matthias Munz, Lingyao Zeng, Jianfeng Huang, Bin Yang, Alaitz Poveda, Azra Kurbasic, Claudia Lamina, Lukas Forer, Markus Scholz, Tessel E. Galesloot, Jonathan P. Bradfield, Sanni E. Ruotsalainen, EWarwick Daw, Joseph M. Zmuda, Jonathan S. Mitchell, Christian Fuchsberger, Henry Christensen, Jennifer A. Brody, Miguel Vazquez-Moreno, Mary F. Feitosa, Mary K. Wojczynski, Zhe Wang, Michael H. Preuss, Massimo Mangino, Paraskevi Christofidou, Niek Verweij, Jan W. Benjamins, Jorgen Engmann, Noah L. Tsao, Anurag Verma, Roderick C. Slieker, Ken Sin Lo, Nuno R. Zilhao, Phuong Le, Marcus E. Kleber, Graciela E. Delgado, Shaofeng Huo, Daisuke D. Ikeda, Hiroyuki Iha, Jian Yang, Jun Liu, Ayşe Demirkan, Hampton L. Leonard, Jonathan Marten, Mirjam Frank, Börge Schmidt, Laura J. Smyth, Marisa Cañadas-Garre, Chaolong Wang, Masahiro Nakatochi, Andrew Wong, Nina Hutri-Kähönen, Xueling Sim, Rui Xia, Alicia Huerta-Chagoya, Juan Carlos Fernandez-Lopez, Valeriya Lyssenko, Suraj S. Nongmaithem, Swati Bayyana, Heather M. Stringham, Marguerite R. Irvin, Christopher Oldmeadow, Han-Na Kim, Seungho Ryu, Paul R. H. J. Timmers, Liubov Arbeeva, Rajkumar Dorajoo, Leslie A. Lange, Gauri Prasad, Laura Lorés-Motta, Marc Pauper, Jirong Long, Xiaohui Li, Elizabeth Theusch, Fumihiko Takeuchi, Cassandra N. Spracklen, Anu Loukola, Sailalitha Bollepalli, Sophie C. Warner, Ya Xing Wang, Wen B. Wei, Teresa Nutile, Daniela Ruggiero, Yun Ju Sung, Shufeng Chen, Fangchao Liu, Jingyun Yang, Katherine A. Kentistou, Bernhard Banas, Giuseppe Giovanni Nardone, Karina Meidtner, Lawrence F. Bielak, Jennifer A. Smith, Prashantha Hebbar, Aliki-Eleni Farmaki, Edith Hofer, Maoxuan Lin, Maria Pina Concas, Simona Vaccargiu, Peter J. van der Most, Niina Pitkänen, Brian E. Cade, Sander W. van der Laan, Kumaraswamy Naidu Chitrala, Stefan Weiss, Amy R. Bentley, Ayo P. Doumatey, Adebowale A. Adeyemo, Jong Young Lee, Eva R. B. Petersen, Aneta A. Nielsen, Hyeok Sun Choi, Maria Nethander, Sandra Freitag-Wolf, Lorraine Southam, Nigel W. Rayner, Carol A. Wang, Shih-Yi Lin, Jun-Sing Wang, Christian Couture, Leo-Pekka Lyytikäinen, Kjell Nikus, Gabriel Cuellar-Partida, Henrik Vestergaard, Bertha Hidalgo, Olga Giannakopoulou, Qiuyin Cai, Morgan O. Obura, Jessica van Setten, Xiaoyin Li, Jingjing Liang, Hua Tang, Natalie Terzikhan, Jae Hun Shin, Rebecca D. Jackson, Alexander P. Reiner, Lisa Warsinger Martin, Zhengming Chen, Liming Li, Takahisa Kawaguchi, Joachim Thiery, Joshua C. Bis, Lenore J. Launer, Huaixing Li, Mike A. Nalls, Olli T. Raitakari, Sahoko Ichihara, Sarah H. Wild, Christopher P. Nelson, Harry Campbell, Susanne Jäger, Toru Nabika, Fahd Al-Mulla, Harri Niinikoski, Peter S. Braund, Ivana Kolcic, Peter Kovacs, Tota Giardoglou, Tomohiro Katsuya, Dominique de Kleijn, Gert J. de Borst, Eung Kweon Kim, Hieab H. H. Adams, M. Arfan Ikram, Xiaofeng Zhu, Folkert W. Asselbergs, Adriaan O. Kraaijeveld, Joline W. J. Beulens, Xiao-Ou Shu, Loukianos S. Rallidis, Oluf Pedersen, Torben Hansen, Paul Mitchell, Alex W. Hewitt, Mika Kähönen, Louis Pérusse, Claude Bouchard, Anke Tönjes, Yii-Der Ida Chen, Craig E. Pennell, Trevor A. Mori, Wolfgang Lieb, Andre Franke, Claes Ohlsson, Dan Mellström, Yoon Shin Cho, Hyejin Lee, Jian-Min Yuan, Woon-Puay Koh, Sang Youl Rhee, Jeong-Taek Woo, Iris M. Heid, Klaus J. Stark, Martina E. Zimmermann, Henry Völzke, Georg Homuth, Michele K. Evans, Alan B. Zonderman, Ozren Polasek, Gerard Pasterkamp, Imo E. Hoefer, Susan Redline, Katja Pahkala, Albertine J. Oldehinkel, Harold Snieder, Ginevra Biino, Reinhold Schmidt, Helena Schmidt, Stefania Bandinelli, George Dedoussis, Thangavel Alphonse Thanaraj, Sharon L. R. Kardia, Patricia A. Peyser, Norihiro Kato, Matthias B. Schulze, Giorgia Girotto, Carsten A. Böger, Bettina Jung, Peter K. Joshi, David A. Bennett, Philip L. De Jager, Xiangfeng Lu, Vasiliki Mamakou, Morris Brown, Mark J. Caulfield, Patricia B. Munroe, Xiuqing Guo, Marina Ciullo, Jost B. Jonas, Nilesh J. Samani, Jaakko Kaprio, Päivi Pajukanta, Teresa Tusié-Luna, Carlos A. Aguilar-Salinas, Linda S. Adair, Sonny Augustin Bechayda, H. Janaka de Silva, Ananda R. Wickremasinghe, Ronald M. Krauss, Jer-Yuarn Wu, Wei Zheng, Anneke Iden Hollander, Dwaipayan Bharadwaj, Adolfo Correa, James G. Wilson, Lars Lind, Chew-Kiat Heng, Amanda E. Nelson, Yvonne M. Golightly, James F. Wilson, Brenda Penninx, Hyung-Lae Kim, John Attia, Rodney J. Scott, D. C. Rao, Donna K. Arnett, Steven C. Hunt, Mark Walker, Heikki A. Koistinen, Giriraj R. Chandak, Josep M. Mercader, Maria C. Costanzo, Dongkeun Jang, Noël P. Burtt, Clicerio Gonzalez Villalpando, Lorena Orozco, Myriam Fornage, EShyong Tai, Rob M. van Dam, Terho Lehtimäki, Nish Chaturvedi, Mitsuhiro Yokota, Jianjun Liu, Dermot F. Reilly, Amy Jayne McKnight, Frank Kee, Karl-Heinz Jöckel, Mark I. McCarthy, Colin N. A. Palmer, Veronique Vitart, Caroline Hayward, Eleanor Simonsick, Cornelia M. van Duijn, Zi-Bing Jin, Jia Qu, Haretsugu Hishigaki, Xu Lin, Winfried März, Vilmundur Gudnason, Jean-Claude Tardif, Guillaume Lettre, Leen M.‘t Hart, Petra J. M. Elders, Scott M. Damrauer, Meena Kumari, Mika Kivimaki, Pim van der Harst, Tim D. Spector, Ruth J. F. Loos, Michael A. Province, Esteban J. Parra, Miguel Cruz, Bruce M. Psaty, Ivan Brandslund, Peter P. Pramstaller, Charles N. Rotimi, Kaare Christensen, Samuli Ripatti, Elisabeth Widén, Hakon Hakonarson, Struan F. A. Grant, Lambertus A. L. M. Kiemeney, Jacqueline de Graaf, Markus Loeffler, Florian Kronenberg, Dongfeng Gu, Jeanette Erdmann, Heribert Schunkert, Paul W. Franks, Allan Linneberg, J. Wouter Jukema, Amit V. Khera, Minna Männikkö, Marjo-Riitta Jarvelin, Zoltan Kutalik, Cucca Francesco, Dennis O. Mook-Kanamori, Ko Willems van Dijk, Hugh Watkins, David P. Strachan, Niels Grarup, Peter Sever, Neil Poulter, Lee-Ming Chuang, Jerome I. Rotter, Thomas M. Dantoft, Fredrik Karpe, Matt J. Neville, Nicholas J. Timpson, Ching-Yu Cheng, Tien-Yin Wong, Chiea Chuen Khor, Hengtong Li, Charumathi Sabanayagam, Annette Peters, Christian Gieger, Andrew T. Hattersley, Nancy L. Pedersen, Patrik K. E. Magnusson, Dorret I. Boomsma, Allegonda H. M. Willemsen, LAdrienne Cupples, Joyce B. J. van Meurs, Mohsen Ghanbari, Penny Gordon-Larsen, Wei Huang, Young Jin Kim, Yasuharu Tabara, Nicholas J. Wareham, Claudia Langenberg, Eleftheria Zeggini, Johanna Kuusisto, Markku Laakso, Erik Ingelsson, Goncalo Abecasis, John C. Chambers, Jaspal S. Kooner, Paul S. de Vries, Alanna C. Morrison, Scott Hazelhurst, Michèle Ramsay, Kari E. North, Martha Daviglus, Peter Kraft, Nicholas G. Martin, John B. Whitfield, Shahid Abbas, Danish Saleheen, Robin G. Walters, Michael V. Holmes, Corri Black, Blair H. Smith, Aris Baras, Anne E. Justice, Julie E. Buring, Paul M. Ridker, Daniel I. Chasman, Charles Kooperberg, Gen Tamiya, Masayuki Yamamoto, David A. van Heel, Richard C. Trembath, Wei-Qi Wei, Gail P. Jarvik, Bahram Namjou, M. Geoffrey Hayes, Marylyn D. Ritchie, Pekka Jousilahti, Veikko Salomaa, Kristian Hveem, Bjørn Olav Åsvold, Michiaki Kubo, Yoichiro Kamatani, Yukinori Okada, Yoshinori Murakami, Bong-Jo Kim, Unnur Thorsteinsdottir, Kari Stefansson, Jifeng Zhang, YEugene Chen, Yuk-Lam Ho, Julie A. Lynch, Daniel J. Rader, Philip S. Tsao, Kyong-Mi Chang, Kelly Cho, Christopher J. O’Donnell, John M. Gaziano, Peter W. F. Wilson, Timothy M. Frayling, Joel N. Hirschhorn, Sekar Kathiresan, Karen L. Mohlke, Yan V. Sun, Andrew P. Morris, Michael Boehnke, Christopher D. Brown, Pradeep Natarajan, Panos Deloukas, Cristen J. Willer, Themistocles L. Assimes, Gina M. Peloso

Publikováno v: Genome Biology, Vol 23, Iss 1, Pp 1-42 (2022)

Abstract Background Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings

Externí odkaz: https://doaj.org/article/9cd978d7630d4adaa824100bc31d1ef2

Exome Sequencing Analysis Identifies Rare Variants in ATM and RPL8 That Are Associated With Shorter Telomere Length

Autor: Ashley van der Spek, Sophie C. Warner, Linda Broer, Christopher P. Nelson, Dina Vojinovic, Shahzad Ahmad, Pascal P. Arp, Rutger W. W. Brouwer, Matthew Denniff, Mirjam C. G. N. van den Hout, Jeroen G. J. van Rooij, Robert Kraaij, Wilfred F. J. van IJcken, Nilesh J. Samani, M. Arfan Ikram, André G. Uitterlinden, Veryan Codd, Najaf Amin, Cornelia M. van Duijn

Publikováno v: Frontiers in Genetics, Vol 11 (2020)

Telomeres are important for maintaining genomic stability. Telomere length has been associated with aging, disease, and mortality and is highly heritable (∼82%). In this study, we aimed to identify rare genetic variants associated with telomere len

Externí odkaz: https://doaj.org/article/c77eae33646043f3bedc794e8a9da48a

A major population resource of 474,074 participants in UK Biobank to investigate determinants and biomedical consequences of leukocyte telomere length

Autor: Crispin Musicha, Stephen Kaptoge, Nilesh J. Samani, Codd, Svetlana Stoma, Charley A. Budgeon, Sophie C Warner, Di Angelantonio E, Matthew Denniff, Danesh J, Christopher P. Nelson, Chloe Swinfield, Adam S. Butterworth, Shilpi Sheth, Tao Jiang, Bramley R, Bountziouka, John F. Thompson, Dominika E Nanus, Elias Allara, Angela M. Wood, Qingning Wang, Manolo Papakonstantinou

The determinants and biomedical consequences of variation in leukocyte telomere length (LTL), a proposed marker of biological age, are only partially understood. Here we report the creation and initial characterization of LTL measurements in 474,074

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::35ba5092c59c910ba0bed571232b5184
https://doi.org/10.1101/2021.03.18.21253457

Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length

Autor: Joris Deelen, Antonia Trichopoulou, Sara Hägg, Kim Overvad, Elisabete Weiderpass, Iryna O. Fedko, Rudolf Kaaks, Nicola D. Kerrison, Kirsi H. Pietiläinen, Ida Surakka, Veikko Salomaa, Svetlana Stoma, Jaakko Kaprio, Alessandra Allione, Cornelia M. van Duijn, Nicholas G. Martin, Veryan Codd, Olle Melander, Nilesh J. Samani, Josine E. Verhoeven, Anne Tjønneland, Natalia Pervjakova, Domenico Palli, Adam S. Butterworth, Nicholas J. Wareham, María Dolores Chirlaque, P. Eline Slagboom, Massimo Mangino, Pascal P. Arp, Christopher P. Nelson, Brenda W.J.H. Penninx, Jessica L. Buxton, Pietro Ferrari, Tao Jiang, Iiris Hovatta, Taylor K. Loe, N. Charlotte Onland-Moret, Salvatore Panico, Peter Jones, Heiner Boeing, Timothy J. Key, Luca A. Lotta, Miguel Rodríguez-Barranco, Diana van Heemst, Chen Li, Robert A. Scott, Sarah E. Medland, Giuseppe Matullo, Alexessander Couto Alves, Rosario Tumino, Jouke-Jan Hottenga, Ken K. Ong, Vittorio Krogh, Gonneke Willemsen, Andres Metspalu, Eva Albrecht, Elina Sillanpää, Johan G. Eriksson, Najaf Amin, Dale R. Nyholt, Reedik Mägi, Eros Lazzerini Denchi, Peter M. Nilsson, André G. Uitterlinden, Antonio Agudo, Yuri Milaneschi, Ashley van der Spek, Alessia Russo, Linda Broer, Federico Canzian, Marian Beekman, Grant W. Montgomery, Sophie C Warner, Guy Fagherazzi, Markus Perola, Alexandra I. F. Blakemore, Marjo-Riitta Järvelin, Robert Karlsson, Tim D. Spector, Paul W. Franks, H. Eka D. Suchiman, Claudia Langenberg, Liher Imaz, Nancy L. Pedersen, Scott D. Gordon, Stephen E. Hamby, J. Ramón Quirós, Yvonne T. van der Schouw, Concha Moreno, Christian Gieger, Pekka Jousilahti, Dorret I. Boomsma, Marc J. Gunter, Benjamin Miraglio, Gianluca Severi, John Danesh

Publikováno v: American Journal of Human Genetics, 106(3), 389-404. CELL PRESS
Li, C, Stoma, S, Lotta, L A, Warner, S, Albrecht, E, Allione, A, Arp, P P, Broer, L, Buxton, J L, Da Silva Couto Alves, A, Deelen, J, Fedko, I O, Gordon, S D, Jiang, T, Karlsson, R, Kerrison, N, Loe, T K, Mangino, M, Milaneschi, Y, Miraglio, B, Pervjakova, N, Russo, A, Surakka, I, van der Spek, A, Verhoeven, J E, Amin, N, Beekman, M, Blakemore, A I, Canzian, F, Hamby, S E, Hottenga, J-J, Jones, P D, Jousilahti, P, Mägi, R, Medland, S E, Montgomery, G W, Nyholt, D R, Perola, M, Pietiläinen, K H, Salomaa, V, Sillanpää, E, Suchiman, H E, van Heemst, D, Willemsen, G, Agudo, A, Boeing, H, Boomsma, D I, Chirlaque, M-D, Fagherazzi, G, Ferrari, P, Franks, P, Gieger, C, Eriksson, J G, Gunter, M, Hägg, S, Hovatta, I, Imaz, L, Kaprio, J, Kaaks, R, Key, T, Krogh, V, Martin, N G, Melander, O, Metspalu, A, Moreno, C, Onland-Moret, N C, Nilsson, P, Ong, K K, Overvad, K, Palli, D, Panico, S, Pedersen, N L, Penninx, B W J H, Quirós, J R, Jarvelin, M R, Rodríguez-Barranco, M, Scott, R A, Severi, G, Slagboom, P E, Spector, T D, Tjonneland, A, Trichopoulou, A, Tumino, R, Uitterlinden, A G, van der Schouw, Y T, van Duijn, C M, Weiderpass, E, Denchi, E L, Matullo, G, Butterworth, A S, Danesh, J, Samani, N J, Wareham, N J, Nelson, C P, Langenberg, C & Codd, V 2020, ' Genome-Wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length ', American Journal of Human Genetics, vol. 106, no. 3, pp. 389-404 . https://doi.org/10.1016/j.ajhg.2020.02.006
Am. J. Hum. Genet. 106, 389-404 (2020)
American Journal of Human Genetics, 106(3), 389-404. Cell Press
Dipòsit Digital de la UB
Universidad de Barcelona
Am J Hum Genet
American journal of human genetics, 106(3), 389-404. Cell Press
American Journal of Human Genetics
Li, C, Stoma, S, Lotta, L A, Warner, S, Albrecht, E, Allione, A, Arp, P P, Broer, L, Buxton, J L, Da Silva Couto Alves, A, Deelen, J, Fedko, I O, Gordon, S D, Jiang, T, Karlsson, R, Kerrison, N, Loe, T K, Mangino, M, Milaneschi, Y, Miraglio, B, Pervjakova, N, Russo, A, Surakka, I, van der Spek, A, Verhoeven, J E, Amin, N, Beekman, M, Blakemore, A I, Canzian, F, Hamby, S E, Hottenga, J J, Jones, P D, Jousilahti, P, Mägi, R, Medland, S E, Montgomery, G W, Nyholt, D R, Perola, M, Pietiläinen, K H, Salomaa, V, Sillanpää, E, Suchiman, H E, van Heemst, D, Willemsen, G, Agudo, A, Boeing, H, Boomsma, D I, Chirlaque, M D, Fagherazzi, G, Ferrari, P, Franks, P, Gieger, C, Eriksson, J G, Gunter, M, Hägg, S, Hovatta, I, Imaz, L, Kaprio, J, Kaaks, R, Key, T, Krogh, V, Martin, N G, Melander, O, Metspalu, A, Moreno, C, Onland-Moret, N C, Nilsson, P, Ong, K K, Overvad, K, Palli, D, Panico, S, Pedersen, N L, Penninx, B W J H, Quirós, J R, Jarvelin, M R, Rodríguez-Barranco, M, Scott, R A, Severi, G, Slagboom, P E, Spector, T D, Tjonneland, A, Trichopoulou, A, Tumino, R, Uitterlinden, A G, van der Schouw, Y T, van Duijn, C M, Weiderpass, E, Denchi, E L, Matullo, G, Butterworth, A S, Danesh, J, Samani, N J, Wareham, N J, Nelson, C P, Langenberg, C & Codd, V 2020, ' Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length ', American journal of human genetics, vol. 106, no. 3, pp. 389-404 . https://doi.org/10.1016/j.ajhg.2020.02.006
American Journal of Human Genetics, 106(3), 389. Cell Press
Li, C, Stoma, S, Lotta, L A, Warner, S, Albrecht, E, Allione, A, Arp, P P, Broer, L, Buxton, J L, Da Silva Couto Alves, A, Deelen, J, Fedko, I O, Gordon, S D, Jiang, T, Karlsson, R, Kerrison, N, Loe, T K, Mangino, M, Milaneschi, Y, Miraglio, B, Pervjakova, N, Russo, A, Surakka, I, van der Spek, A, Verhoeven, J E, Amin, N, Beekman, M, Blakemore, A I, Canzian, F, Hamby, S E, Hottenga, J-J, Jones, P D, Jousilahti, P, Mägi, R, Medland, S E, Montgomery, G W, Nyholt, D R, Perola, M, Pietiläinen, K H, Salomaa, V, Sillanpää, E, Suchiman, H E, van Heemst, D, Willemsen, G, Agudo, A, Boeing, H, Boomsma, D I, Chirlaque, M-D, Fagherazzi, G, Ferrari, P, Franks, P, Gieger, C, Eriksson, J G, Gunter, M, Hägg, S, Hovatta, I, Imaz, L, Kaprio, J, Kaaks, R, Key, T, Krogh, V, Martin, N G, Melander, O, Metspalu, A, Moreno, C, Onland-Moret, N C, Nilsson, P, Ong, K K, Overvad, K, Palli, D, Panico, S, Pedersen, N L, Penninx, B W J H, Quirós, J R, Jarvelin, M R, Rodríguez-Barranco, M, Scott, R A, Severi, G, Slagboom, P E, Spector, T D, Tjonneland, A, Trichopoulou, A, Tumino, R, Uitterlinden, A G, van der Schouw, Y T, van Duijn, C M, Weiderpass, E, Denchi, E L, Matullo, G, Butterworth, A S, Danesh, J, Samani, N J, Wareham, N J, Nelson, C P, Langenberg, C & Codd, V 2020, ' Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length ', American Journal of Human Genetics, vol. 106, no. 3, pp. 389-404 . https://doi.org/10.1016/j.ajhg.2020.02.006

Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e238cacd13be676a0aea71ee6af24125
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-169391

Exome Sequencing Analysis Identifies Rare Variants in

Autor: Ashley, van der Spek, Sophie C, Warner, Linda, Broer, Christopher P, Nelson, Dina, Vojinovic, Shahzad, Ahmad, Pascal P, Arp, Rutger W W, Brouwer, Matthew, Denniff, Mirjam C G N, van den Hout, Jeroen G J, van Rooij, Robert, Kraaij, Wilfred F J, van IJcken, Nilesh J, Samani, M Arfan, Ikram, André G, Uitterlinden, Veryan, Codd, Najaf, Amin, Cornelia M, van Duijn

Publikováno v: Frontiers in Genetics

Telomeres are important for maintaining genomic stability. Telomere length has been associated with aging, disease, and mortality and is highly heritable (∼82%). In this study, we aimed to identify rare genetic variants associated with telomere len

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ed0fbd600a8d08424ed4f17b79adaf87
https://pubmed.ncbi.nlm.nih.gov/32425970