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5 results on '"Mangino, Massimo [0000-0002-2167-7470]"'

1. Rare and common genetic determinants of metabolic individuality and their effects on human health

Author

Surendran, Praveen, Stewart, Isobel, AuYeung, Victoria PW, Pietzner, Mark, Li, Chen, Smith, Rebecca F, Wittemans, Laura BL, Watkins, Nicholas A, Di Angelantonio, Emanuele, Soranzo, Nicole, Lotta, Luca A, Howson, Joanna MM, Wood, Angela M, Danesh, John, Wareham, Nicholas J, Butterworth, Adam S, Langenberg, Claudia, Pietzner, Maik [0000-0003-3437-9963], Wörheide, Maria A [0000-0002-9326-7227], Menni, Cristina [0000-0001-9790-0571], Zierer, Jonas [0000-0002-9693-1859], Mangino, Massimo [0000-0002-2167-7470], Falchi, Mario [0000-0002-5646-1004], Spector, Tim D [0000-0002-9795-0365], Soranzo, Nicole [0000-0003-1095-3852], Michelotti, Gregory A [0000-0002-3936-4675], Arlt, Wiebke [0000-0001-5106-9719], Howson, Joanna MM [0000-0001-7618-0050], Wareham, Nicholas J [0000-0003-1422-2993], Kastenmüller, Gabi [0000-0002-2368-7322], Fauman, Eric B [0000-0002-9739-0249], Butterworth, Adam S [0000-0002-6915-9015], Langenberg, Claudia [0000-0002-5017-7344], and Apollo - University of Cambridge Repository

Subjects
Plasma, Phenotype, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Metabolome, Humans, Metabolomics, Membrane Proteins, Metabolism, Inborn Errors
Abstract

Garrod’s concept of “chemical individuality” has contributed to comprehension of molecular origins of human diseases. Untargeted high throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale. Here we studied the genetic architecture of the human plasma metabolome using 913 metabolites assayed in 19,994 individuals. We identified 2,599 variant-metabolite associations (P

Published
2022

2. Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects

Author

Howe, Laurence J, Nivard, Michel G, Morris, Tim T, Hansen, Ailin F, Rasheed, Humaira, Cho, Yoonsu, Chittoor, Geetha, Ahlskog, Rafael, Lind, Penelope A, Palviainen, Teemu, Van Der Zee, Matthijs D, Cheesman, Rosa, Mangino, Massimo, Wang, Yunzhang, Li, Shuai, Klaric, Lucija, Ratliff, Scott M, Bielak, Lawrence F, Nygaard, Marianne, Giannelis, Alexandros, Willoughby, Emily A, Reynolds, Chandra A, Balbona, Jared V, Andreassen, Ole A, Ask, Helga, Baras, Aris, Bauer, Christopher R, Boomsma, Dorret I, Campbell, Archie, Campbell, Harry, Chen, Zhengming, Christofidou, Paraskevi, Corfield, Elizabeth, Dahm, Christina C, Dokuru, Deepika R, Evans, Luke M, De Geus, Eco JC, Giddaluru, Sudheer, Gordon, Scott D, Harden, K Paige, Hill, W David, Hughes, Amanda, Kerr, Shona M, Kim, Yongkang, Kweon, Hyeokmoon, Latvala, Antti, Lawlor, Deborah A, Li, Liming, Lin, Kuang, Magnus, Per, Magnusson, Patrik KE, Mallard, Travis T, Martikainen, Pekka, Mills, Melinda C, Njølstad, Pål Rasmus, Overton, John D, Pedersen, Nancy L, Porteous, David J, Reid, Jeffrey, Silventoinen, Karri, Southey, Melissa C, Stoltenberg, Camilla, Tucker-Drob, Elliot M, Wright, Margaret J, Social Science Genetic Association Consortium, Within Family Consortium, Hewitt, John K, Keller, Matthew C, Stallings, Michael C, Lee, James J, Christensen, Kaare, Kardia, Sharon LR, Peyser, Patricia A, Smith, Jennifer A, Wilson, James F, Hopper, John L, Hägg, Sara, Spector, Tim D, Pingault, Jean-Baptiste, Plomin, Robert, Havdahl, Alexandra, Bartels, Meike, Martin, Nicholas G, Oskarsson, Sven, Justice, Anne E, Millwood, Iona Y, Hveem, Kristian, Naess, Øyvind, Willer, Cristen J, Åsvold, Bjørn Olav, Koellinger, Philipp D, Kaprio, Jaakko, Medland, Sarah E, Walters, Robin G, Benjamin, Daniel J, Turley, Patrick, Evans, David M, Davey Smith, George, Hayward, Caroline, Brumpton, Ben, Hemani, Gibran, Davies, Neil M, Howe, Laurence J [0000-0002-2819-9686], Nivard, Michel G [0000-0003-2015-1888], Morris, Tim T [0000-0001-8178-6815], Rasheed, Humaira [0000-0002-3331-5864], Cho, Yoonsu [0000-0001-6118-6652], Lind, Penelope A [0000-0002-3887-2598], Palviainen, Teemu [0000-0002-7847-8384], van der Zee, Matthijs D [0000-0003-4076-9167], Mangino, Massimo [0000-0002-2167-7470], Wang, Yunzhang [0000-0003-1165-3595], Klaric, Lucija [0000-0003-3105-8929], Bielak, Lawrence F [0000-0002-3443-8030], Nygaard, Marianne [0000-0003-0703-2665], Giannelis, Alexandros [0000-0003-4587-0336], Willoughby, Emily A [0000-0001-7559-1544], Reynolds, Chandra A [0000-0001-6502-7173], Balbona, Jared V [0000-0003-4466-248X], Andreassen, Ole A [0000-0002-4461-3568], Ask, Helga [0000-0003-0149-5319], Baras, Aris [0000-0002-6830-3396], Boomsma, Dorret I [0000-0002-7099-7972], Campbell, Archie [0000-0003-0198-5078], Chen, Zhengming [0000-0001-6423-105X], Corfield, Elizabeth [0000-0002-0119-157X], Evans, Luke M [0000-0002-7458-1720], Gordon, Scott D [0000-0001-7623-328X], Harden, K Paige [0000-0002-1557-6737], Hughes, Amanda [0000-0001-5896-7650], Kerr, Shona M [0000-0002-4137-1495], Kweon, Hyeokmoon [0000-0002-3649-0457], Lawlor, Deborah A [0000-0002-6793-2262], Magnusson, Patrik KE [0000-0002-7315-7899], Mallard, Travis T [0000-0002-3265-3001], Martikainen, Pekka [0000-0001-9374-1438], Njølstad, Pål Rasmus [0000-0003-0304-6728], Porteous, David J [0000-0003-1249-6106], Reid, Jeffrey [0000-0001-8645-4713], Southey, Melissa C [0000-0002-6313-9005], Stoltenberg, Camilla [0000-0002-8747-1985], Tucker-Drob, Elliot M [0000-0001-5599-6237], Wright, Margaret J [0000-0001-7133-4970], Keller, Matthew C [0000-0002-6075-9882], Lee, James J [0000-0001-6547-5128], Christensen, Kaare [0000-0002-5429-5292], Peyser, Patricia A [0000-0002-9717-8459], Smith, Jennifer A [0000-0002-3575-5468], Wilson, James F [0000-0001-5751-9178], Hägg, Sara [0000-0002-2452-1500], Spector, Tim D [0000-0002-9795-0365], Plomin, Robert [0000-0002-0756-3629], Havdahl, Alexandra [0000-0002-9268-0423], Bartels, Meike [0000-0002-9667-7555], Oskarsson, Sven [0000-0001-8698-2866], Willer, Cristen J [0000-0001-5645-4966], Åsvold, Bjørn Olav [0000-0003-3837-2101], Koellinger, Philipp D [0000-0001-7413-0412], Kaprio, Jaakko [0000-0002-3716-2455], Walters, Robin G [0000-0002-9179-0321], Benjamin, Daniel J [0000-0002-2642-5416], Evans, David M [0000-0003-0663-4621], Davey Smith, George [0000-0002-1407-8314], Hayward, Caroline [0000-0002-9405-9550], Brumpton, Ben [0000-0002-3058-1059], Hemani, Gibran [0000-0003-0920-1055], Davies, Neil M [0000-0002-2460-0508], and Apollo - University of Cambridge Repository

Subjects
Multifactorial Inheritance, Phenotype, 631/208/205/2138, article, Humans, 631/208/457, Mendelian Randomization Analysis, Polymorphism, Single Nucleotide, Genome-Wide Association Study
Abstract

Funder: Jacobs Foundation; doi: https://doi.org/10.13039/501100003986, Estimates from genome-wide association studies (GWAS) of unrelated individuals capture effects of inherited variation (direct effects), demography (population stratification, assortative mating) and relatives (indirect genetic effects). Family-based GWAS designs can control for demographic and indirect genetic effects, but large-scale family datasets have been lacking. We combined data from 178,086 siblings from 19 cohorts to generate population (between-family) and within-sibship (within-family) GWAS estimates for 25 phenotypes. Within-sibship GWAS estimates were smaller than population estimates for height, educational attainment, age at first birth, number of children, cognitive ability, depressive symptoms and smoking. Some differences were observed in downstream SNP heritability, genetic correlations and Mendelian randomization analyses. For example, the within-sibship genetic correlation between educational attainment and body mass index attenuated towards zero. In contrast, analyses of most molecular phenotypes (for example, low-density lipoprotein-cholesterol) were generally consistent. We also found within-sibship evidence of polygenic adaptation on taller height. Here, we illustrate the importance of family-based GWAS data for phenotypes influenced by demographic and indirect genetic effects.

Published
2022
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3. Genome-wide association study identifies 48 common genetic variants associated with handedness

Author

Cuellar-Partida, Gabriel, Tung, Joyce Y, Eriksson, Nicholas, Albrecht, Eva, Aliev, Fazil, Andreassen, Ole A, Barroso, Inês, Beckmann, Jacques S, Boks, Marco P, Boomsma, Dorret I, Boyd, Heather A, Breteler, Monique MB, Campbell, Harry, Chasman, Daniel I, Cherkas, Lynn F, Davies, Gail, de Geus, Eco JC, Deary, Ian J, Deloukas, Panos, Dick, Danielle M, Duffy, David L, Eriksson, Johan G, Esko, Tõnu, Feenstra, Bjarke, Geller, Frank, Gieger, Christian, Giegling, Ina, Gordon, Scott D, Han, Jiali, Hansen, Thomas F, Hartmann, Annette M, Hayward, Caroline, Heikkilä, Kauko, Hicks, Andrew A, Hirschhorn, Joel N, Hottenga, Jouke-Jan, Huffman, Jennifer E, Hwang, Liang-Dar, Ikram, M Arfan, Kaprio, Jaakko, Kemp, John P, Khaw, Kay-Tee, Klopp, Norman, Konte, Bettina, Kutalik, Zoltan, Lahti, Jari, Li, Xin, Loos, Ruth JF, Luciano, Michelle, Magnusson, Sigurdur H, Mangino, Massimo, Marques-Vidal, Pedro, Martin, Nicholas G, McArdle, Wendy L, McCarthy, Mark I, Medina-Gomez, Carolina, Melbye, Mads, Melville, Scott A, Metspalu, Andres, Milani, Lili, Mooser, Vincent, Nelis, Mari, Nyholt, Dale R, O'Connell, Kevin S, Ophoff, Roel A, Palmer, Cameron, Palotie, Aarno, Palviainen, Teemu, Pare, Guillaume, Paternoster, Lavinia, Peltonen, Leena, Penninx, Brenda WJH, Polasek, Ozren, Pramstaller, Peter P, Prokopenko, Inga, Raikkonen, Katri, Ripatti, Samuli, Rivadeneira, Fernando, Rudan, Igor, Rujescu, Dan, Smit, Johannes H, Smith, George Davey, Smoller, Jordan W, Soranzo, Nicole, Spector, Tim D, Pourcain, Beate St, Starr, John M, Stefánsson, Hreinn, Steinberg, Stacy, Teder-Laving, Maris, Thorleifsson, Gudmar, Stefánsson, Kári, Timpson, Nicholas J, Uitterlinden, André G, van Duijn, Cornelia M, van Rooij, Frank JA, Vink, Jaqueline M, Vollenweider, Peter, Vuoksimaa, Eero, Waeber, Gérard, Wareham, Nicholas J, Warrington, Nicole, Waterworth, Dawn, Werge, Thomas, Wichmann, H-Erich, Widen, Elisabeth, Willemsen, Gonneke, Wright, Alan F, Wright, Margaret J, Xu, Mousheng, Zhao, Jing Hua, Kraft, Peter, Hinds, David A, Lindgren, Cecilia M, Mägi, Reedik, Neale, Benjamin M, Evans, David M, Medland, Sarah E, Cuellar-Partida, Gabriel [0000-0001-7648-4097], Aliev, Fazil [0000-0001-8357-4699], Andreassen, Ole A [0000-0002-4461-3568], Barroso, Inês [0000-0001-5800-4520], Beckmann, Jacques S [0000-0002-9741-1900], Boks, Marco P [0000-0001-6163-7484], Boomsma, Dorret I [0000-0002-7099-7972], Boyd, Heather A [0000-0001-6849-9985], Breteler, Monique MB [0000-0002-0626-9305], Chasman, Daniel I [0000-0003-3357-0862], de Geus, Eco JC [0000-0001-6022-2666], Deary, Ian J [0000-0002-1733-263X], Deloukas, Panos [0000-0001-9251-070X], Dick, Danielle M [0000-0002-1636-893X], Feenstra, Bjarke [0000-0003-1478-649X], Geller, Frank [0000-0002-9238-3269], Gordon, Scott D [0000-0001-7623-328X], Hansen, Thomas F [0000-0001-6703-7762], Hayward, Caroline [0000-0002-9405-9550], Hicks, Andrew A [0000-0001-6320-0411], Hirschhorn, Joel N [0000-0002-1650-7901], Hottenga, Jouke-Jan [0000-0002-5668-2368], Huffman, Jennifer E [0000-0002-9672-2491], Hwang, Liang-Dar [0000-0002-5535-2199], Ikram, M Arfan [0000-0003-0372-8585], Kaprio, Jaakko [0000-0002-3716-2455], Kemp, John P [0000-0002-9105-2249], Konte, Bettina [0000-0001-5287-308X], Kutalik, Zoltan [0000-0001-8285-7523], Lahti, Jari [0000-0002-4310-5297], Li, Xin [0000-0002-0135-8800], Loos, Ruth JF [0000-0002-8532-5087], Luciano, Michelle [0000-0002-7306-3008], Magnusson, Sigurdur H [0000-0001-6669-3071], Mangino, Massimo [0000-0002-2167-7470], Marques-Vidal, Pedro [0000-0002-4548-8500], Martin, Nicholas G [0000-0003-4069-8020], McArdle, Wendy L [0000-0002-0605-5403], McCarthy, Mark I [0000-0002-4393-0510], Medina-Gomez, Carolina [0000-0001-7999-5538], Melbye, Mads [0000-0001-8264-6785], Metspalu, Andres [0000-0002-3718-796X], Milani, Lili [0000-0002-5323-3102], Nelis, Mari [0000-0001-9748-1020], Nyholt, Dale R [0000-0001-7159-3040], O'Connell, Kevin S [0000-0002-6865-8795], Ophoff, Roel A [0000-0002-8287-6457], Palviainen, Teemu [0000-0002-7847-8384], Pare, Guillaume [0000-0002-6795-4760], Paternoster, Lavinia [0000-0003-2514-0889], Polasek, Ozren [0000-0002-5765-1862], Prokopenko, Inga [0000-0003-1624-7457], Ripatti, Samuli [0000-0002-0504-1202], Rivadeneira, Fernando [0000-0001-9435-9441], Rudan, Igor [0000-0001-6993-6884], Smit, Johannes H [0000-0002-2062-8378], Smith, George Davey [0000-0002-1407-8314], Smoller, Jordan W [0000-0002-0381-6334], Spector, Tim D [0000-0002-9795-0365], Pourcain, Beate St [0000-0002-4680-3517], Stefánsson, Hreinn [0000-0002-9331-6666], Steinberg, Stacy [0000-0001-7726-5152], Teder-Laving, Maris [0000-0002-5872-1850], Stefánsson, Kári [0000-0003-1676-864X], Timpson, Nicholas J [0000-0002-7141-9189], Uitterlinden, André G [0000-0002-7276-3387], van Rooij, Frank JA [0000-0002-8600-9852], Vink, Jaqueline M [0000-0003-3910-3528], Waeber, Gérard [0000-0003-4193-788X], Warrington, Nicole [0000-0003-4195-775X], Werge, Thomas [0000-0003-1829-0766], Wright, Margaret J [0000-0001-7133-4970], Zhao, Jing Hua [0000-0002-1463-5870], Kraft, Peter [0000-0002-4472-8103], Hinds, David A [0000-0002-4911-803X], Lindgren, Cecilia M [0000-0002-4903-9374], Neale, Benjamin M [0000-0003-1513-6077], Evans, David M [0000-0003-0663-4621], Medland, Sarah E [0000-0003-1382-380X], and Apollo - University of Cambridge Repository

Subjects
Adult, Male, Genetic Variation, Middle Aged, Polymorphism, Single Nucleotide, Functional Laterality, Linkage Disequilibrium, Quantitative Trait, Heritable, Sex Factors, Gene Frequency, Genetic Loci, Humans, Female, Aged, Genome-Wide Association Study
Abstract

Handedness has been extensively studied because of its relationship with language and the over-representation of left-handers in some neurodevelopmental disorders. Using data from the UK Biobank, 23andMe and the International Handedness Consortium, we conducted a genome-wide association meta-analysis of handedness (N = 1,766,671). We found 41 loci associated (P

Published
2021

4. Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

Author

Dennis O. Mook-Kanamori, Yalda Jamshidi, Peter K. Joshi, Seung Hoan Choi, Henry J. Lin, Rebecca D. Jackson, Alison D. Murray, May E. Montasser, Veikko Salomaa, Charles Kooperberg, Moritz F. Sinner, Gianfranco Sinagra, Luisa Foco, James G. Wilson, Johan Sundström, Kathleen A. Ryan, Eric A. Whitsel, Bruno H. Stricker, Sandosh Padmanabhan, Christopher Newton-Cheh, Ozren Polasek, Unnur Thorsteinsdottir, Niek Verweij, Pier D. Lambiase, Nathan R. Tucker, Stefan Kääb, Jun Ding, Stefan Weiss, Daniel F. Gudbjartsson, David Conen, Lars Lind, Ivana Kolcic, Lu-Chen Weng, J. Wouter Jukema, Kirill V. Tarasov, Xiuqing Guo, Stella Trompet, Patricia B. Munroe, Albert V. Smith, Elsayed Z. Soliman, Andrew Tinker, Antti Jula, J. Gustav Smith, Alexander P. Reiner, Sébastien Thériault, Kathryn L. Lunetta, Vilmundur Gudnason, Mika Kähönen, Massimo Mangino, Raymond Noordam, Joshua C. Bis, Alan R. Shuldiner, Tim D. Spector, Borbala Mifsud, Stefan van Duijvenboden, Jeffrey R. O'Connell, Emelia J. Benjamin, M. Benjamin Shoemaker, Stephan B. Felix, Peter W. Macfarlane, Lorenz Risch, Uwe Völker, Stephanie M. Gogarten, Maria Fernanda Lima-Costa, Julia Ramirez, Morten S. Olesen, Konstantin Strauch, Annette Peters, Aaron Isaacs, Steven A. Lubitz, Eric Boerwinkle, Carolina Roselli, James H. Cartwright, Nathalia M. Araujo, Ruth J. F. Loos, Diane Fatkin, Harry Campbell, Blair H. Smith, Thomas Meitinger, André G. Uitterlinden, Paul L. Huang, Tamara B. Harris, Kathleen F. Kerr, David J. Porteous, Martina Müller-Nurasyid, Francesco Cucca, Michiel Rienstra, Davíð O. Arnar, Amanda A. Seyerle, Caroline Hayward, M. Abdullah Said, Catriona L. K. Barnes, Kent D. Taylor, Nona Sotoodehnia, Nina Mononen, Dan M. Roden, Jonathan Marten, Terho Lehtimäki, Dan E. Arking, Anna F. Dominiczak, Jan A. Kors, Olli T. Raitakari, Igor Rudan, Yordi J. van de Vegte, Christopher P. Nelson, Erik Ingelsson, Ulrike Peters, Girish N. Nadkarni, Eduardo Tarazona-Santos, Edward G. Lakatta, Nina Hutri-Kähönen, Bruce M. Psaty, Patrick T. Ellinor, Christian Fuchsberger, Katharina Schramm, Amelia W. Hall, M. Yldau van der Ende, Alvaro Alonso, James F. Wilson, Sheila Ulivi, Rosa B. Thorolfsdottir, Stefanie Aeschbacher, Mary L. Biggs, Marten E. van den Berg, Nilesh J. Samani, Thibaud Boutin, Vilmantas Giedraitis, Honghuang Lin, Kjell Nikus, Helen R. Warren, Arie C. Maan, James J. Cranley, Adolfo Correa, Martin Gögele, Ian Ford, Katri Sääksjärvi, Georg Ehret, Michele Orini, Susan R. Heckbert, Cecilia M. Lindgren, Jie Yao, Maria Pina Concas, Pim van der Harst, Ioanna Ntalla, Jeffrey Haessler, Jerome I. Rotter, Pashupati P. Mishra, Michael J. Cutler, Erwin P. Bottinger, Cornelia M. van Duijn, Jennifer A. Brody, Paolo Gasparini, Lenore J. Launer, Andrew P. Morris, Renée de Mutsert, Aki S. Havulinna, James P. Cook, Hilma Holm, Patrick Sulem, Alessandro De Grandi, Cristian Pattaro, Gardar Sveinbjornsson, Antonio Luiz Pinho Ribeiro, Mark J. Caulfield, Gudmar Thorleifsson, Marcus Dörr, Muhammad B. Riaz, Peter P. Pramstaller, Yong Qian, Anubha Mahajan, Cathy C. Laurie, Kenneth Rice, Mark Chaffin, Kari Stefansson, Andrew A. Hicks, Solmaz Assa, Hao Mei, Leo-Pekka Lyytikäinen, Fabiola Del Greco M, Renan P. Souza, Michael Preuss, Adrienne M. Stilp, Barry London, Melanie Waldenberger, Christy L. Avery, Daniel Levy, Michael R. Barnes, Medical Informatics, Epidemiology, Internal Medicine, Weng, Lu-Chen [0000-0003-1475-4930], Hall, Amelia Weber [0000-0002-7915-0313], Tucker, Nathan R [0000-0002-5071-4218], Chaffin, Mark D [0000-0002-1234-5562], Roselli, Carolina [0000-0001-5267-6756], Barnes, Michael R [0000-0001-9097-7381], Mifsud, Borbala [0000-0003-3429-3094], Hayward, Caroline [0000-0002-9405-9550], Concas, Maria Pina [0000-0003-3598-2537], Boutin, Thibaud [0000-0003-4754-1675], Kolcic, Ivana [0000-0001-7918-6052], Rudan, Igor [0000-0001-6993-6884], Souza, Renan P [0000-0002-9479-4432], Giedraitis, Vilmantas [0000-0003-3423-2021], Ingelsson, Erik [0000-0003-2256-6972], Mahajan, Anubha [0000-0001-5585-3420], Morris, Andrew P [0000-0002-6805-6014], Hicks, Andrew A [0000-0001-6320-0411], Sundström, Johan [0000-0003-2247-8454], Nelson, Christopher P [0000-0001-8025-2897], Riaz, Muhammad B [0000-0002-5512-1745], Sinagra, Gianfranco [0000-0003-2700-8478], Mishra, Pashupati P [0000-0001-5177-3431], Caulfield, Mark J [0000-0001-9295-3594], Dominiczak, Anna [0000-0003-4913-3608], Risch, Lorenz [0000-0003-2692-6699], Joshi, Peter K [0000-0002-6361-5059], Wilson, James F [0000-0001-5751-9178], Isaacs, Aaron [0000-0001-5037-4834], van Duijn, Cornelia M [0000-0002-2374-9204], Gudnason, Vilmundur [0000-0001-5696-0084], Smith, Albert V [0000-0003-1942-5845], Loos, Ruth JF [0000-0002-8532-5087], Preuss, Michael H [0000-0001-5266-8465], Correa, Adolfo [0000-0002-9501-600X], Müller-Nurasyid, Martina [0000-0003-3793-5910], Waldenberger, Melanie [0000-0003-0583-5093], Mangino, Massimo [0000-0002-2167-7470], Rienstra, Michiel [0000-0002-2581-070X], van der Harst, Pim [0000-0002-2713-686X], Verweij, Niek [0000-0002-4303-7685], Fatkin, Diane [0000-0002-9010-9856], Brody, Jennifer A [0000-0001-8509-148X], Rice, Kenneth [0000-0002-3071-7278], Pattaro, Cristian [0000-0002-4119-0109], Wouter Jukema, J [0000-0002-3246-8359], Weiss, Stefan [0000-0002-3553-4315], Havulinna, Aki S [0000-0002-4787-8959], Sääksjärvi, Katri [0000-0002-5061-4911], Salomaa, Veikko [0000-0001-7563-5324], Rotter, Jerome I [0000-0001-7191-1723], Taylor, Kent D [0000-0002-2756-4370], Lakatta, Edward G [0000-0002-4772-0035], Lin, Honghuang [0000-0003-3043-3942], Lunetta, Kathryn L [0000-0002-9268-810X], Murray, Alison D [0000-0003-4915-4847], Porteous, David J [0000-0003-1249-6106], Smith, Blair H [0000-0002-5362-9430], Uitterlinden, André [0000-0002-7276-3387], Peters, Ulrike [0000-0001-5666-9318], Alonso, Alvaro [0000-0002-2225-8323], Ehret, Georg B [0000-0002-5730-0675], Soliman, Elsayed Z [0000-0001-5632-8150], Gogarten, Stephanie M [0000-0002-7231-9745], Kerr, Kathleen F [0000-0002-6438-9583], Abdullah Said, M [0000-0003-2920-7745], Orini, Michele [0000-0001-5773-0344], Ramirez, Julia [0000-0003-4130-5866], Van Duijvenboden, Stefan [0000-0001-8897-558X], Gudbjartsson, Daniel F [0000-0002-5222-9857], Sulem, Patrick [0000-0001-7123-6123], Thorolfsdottir, Rosa B [0000-0001-7475-0398], Benjamin, Emelia J [0000-0003-4076-2336], Stefansson, Kari [0000-0003-1676-864X], Ellinor, Patrick T [0000-0002-2067-0533], Jamshidi, Yalda [0000-0003-0151-6482], Lubitz, Steven A [0000-0002-9599-4866], Munroe, Patricia B [0000-0002-4176-2947], Apollo - University of Cambridge Repository, Medicum, Institute for Molecular Medicine Finland, Complex Disease Genetics, Helsinki Institute of Life Science HiLIFE, University of Helsinki, Cardiovascular Centre (CVC), Ntalla, I., Weng, L. -C., Cartwright, J. H., Hall, A. W., Sveinbjornsson, G., Tucker, N. R., Choi, S. H., Chaffin, M. D., Roselli, C., Barnes, M. R., Mifsud, B., Warren, H. R., Hayward, C., Marten, J., Cranley, J. J., Concas, M. P., Gasparini, P., Boutin, T., Kolcic, I., Polasek, O., Rudan, I., Araujo, N. M., Lima-Costa, M. F., Ribeiro, A. L. P., Souza, R. P., Tarazona-Santos, E., Giedraitis, V., Ingelsson, E., Mahajan, A., Morris, A. P., Del Greco M, F., Foco, L., Gogele, M., Hicks, A. A., Cook, J. P., Lind, L., Lindgren, C. M., Sundstrom, J., Nelson, C. P., Riaz, M. B., Samani, N. J., Sinagra, G., Ulivi, S., Kahonen, M., Mishra, P. P., Mononen, N., Nikus, K., Caulfield, M. J., Dominiczak, A., Padmanabhan, S., Montasser, M. E., O'Connell, J. R., Ryan, K., Shuldiner, A. R., Aeschbacher, S., Conen, D., Risch, L., Theriault, S., Hutri-Kahonen, N., Lehtimaki, T., Lyytikainen, L. -P., Raitakari, O. T., Barnes, C. L. K., Campbell, H., Joshi, P. K., Wilson, J. F., Isaacs, A., Kors, J. A., van Duijn, C. M., Huang, P. L., Gudnason, V., Harris, T. B., Launer, L. J., Smith, A. V., Bottinger, E. P., Loos, R. J. F., Nadkarni, G. N., Preuss, M. H., Correa, A., Mei, H., Wilson, J., Meitinger, T., Muller-Nurasyid, M., Peters, A., Waldenberger, M., Mangino, M., Spector, T. D., Rienstra, M., van de Vegte, Y. J., van der Harst, P., Verweij, N., Kaab, S., Schramm, K., Sinner, M. F., Strauch, K., Cutler, M. J., Fatkin, D., London, B., Olesen, M., Roden, D. M., Benjamin Shoemaker, M., Gustav Smith, J., Biggs, M. L., Bis, J. C., Brody, J. A., Psaty, B. M., Rice, K., Sotoodehnia, N., De Grandi, A., Fuchsberger, C., Pattaro, C., Pramstaller, P. P., Ford, I., Wouter Jukema, J., Macfarlane, P. W., Trompet, S., Dorr, M., Felix, S. B., Volker, U., Weiss, S., Havulinna, A. S., Jula, A., Saaksjarvi, K., Salomaa, V., Guo, X., Heckbert, S. R., Lin, H. J., Rotter, J. I., Taylor, K. D., Yao, J., de Mutsert, R., Maan, A. C., Mook-Kanamori, D. O., Noordam, R., Cucca, F., Ding, J., Lakatta, E. G., Qian, Y., Tarasov, K. V., Levy, D., Lin, H., Newton-Cheh, C. H., Lunetta, K. L., Murray, A. D., Porteous, D. J., Smith, B. H., Stricker, B. H., Uitterlinden, A., van den Berg, M. E., Haessler, J., Jackson, R. D., Kooperberg, C., Peters, U., Reiner, A. P., Whitsel, E. A., Alonso, A., Arking, D. E., Boerwinkle, E., Ehret, G. B., Soliman, E. Z., Avery, C. L., Gogarten, S. M., Kerr, K. F., Laurie, C. C., Seyerle, A. A., Stilp, A., Assa, S., Abdullah Said, M., Yldau van der Ende, M., Lambiase, P. D., Orini, M., Ramirez, J., Van Duijvenboden, S., Arnar, D. O., Gudbjartsson, D. F., Holm, H., Sulem, P., Thorleifsson, G., Thorolfsdottir, R. B., Thorsteinsdottir, U., Benjamin, E. J., Tinker, A., Stefansson, K., Ellinor, P. T., Jamshidi, Y., Lubitz, S. A., Munroe, P. B., Fysiologie, RS: FHML MaCSBio, RS: Carim - B01 Blood proteins & engineering, Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Verkfræði- og náttúruvísindasvið (HÍ), School of Engineering and Natural Sciences (UI), Háskóli Íslands, and University of Iceland

Subjects
0301 basic medicine, Male, Multifactorial Inheritance, General Physics and Astronomy, Gene Expression, Genome-wide association study, 030204 cardiovascular system & hematology, Arrhythmias, Genome-wide association studies, CALCINEURIN, Electrocardiography, 0302 clinical medicine, Cardiovascular Disease, Multi-ancestry GWAS, ELEMENTS, Medicine, Cardiac and Cardiovascular Systems, Blóðrásarsjúkdómar, lcsh:Science, RISK, DECREASE, education.field_of_study, Multidisciplinary, Kardiologi, medicine.diagnostic_test, 1184 Genetics, developmental biology, physiology, Atrial fibrillation, 3142 Public health care science, environmental and occupational health, 3. Good health, Endophenotype, Arrhythmias, Cardiac, Cardiovascular Diseases, Endophenotypes, Female, Genetic Loci, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Humans, Quantitative Trait Loci, cardiovascular system, Cardiology, medicine.symptom, Erfðarannsóknir, Cardiac, Medical Genetics, Human, Bradycardia, medicine.medical_specialty, Science, GENOME-WIDE ASSOCIATION, ATRIAL-FIBRILLATION, MUTATIONS, DURATION, CARDIOMYOPATHY, BRADYCARDIA, Population, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Internal medicine, Cardiac conduction, PR interval, education, Medicinsk genetik, business.industry, Cardiovascular genetics, General Chemistry, Arfgengi, medicine.disease, 030104 developmental biology, lcsh:Q, business
Abstract

Publisher's version (útgefin grein), The electrocardiographic PR interval reflects atrioventricular conduction, and is associated with conduction abnormalities, pacemaker implantation, atrial fibrillation (AF), and cardiovascular mortality. Here we report a multi-ancestry (N = 293,051) genome-wide association meta-analysis for the PR interval, discovering 202 loci of which 141 have not previously been reported. Variants at identified loci increase the percentage of heritability explained, from 33.5% to 62.6%. We observe enrichment for cardiac muscle developmental/contractile and cytoskeletal genes, highlighting key regulation processes for atrioventricular conduction. Additionally, 8 loci not previously reported harbor genes underlying inherited arrhythmic syndromes and/or cardiomyopathies suggesting a role for these genes in cardiovascular pathology in the general population. We show that polygenic predisposition to PR interval duration is an endophenotype for cardiovascular disease, including distal conduction disease, AF, and atrioventricular pre-excitation. These findings advance our understanding of the polygenic basis of cardiac conduction, and the genetic relationship between PR interval duration and cardiovascular disease., We provide all investigator and study-specific acknowledgements in Supplementary Note 1, and funding sources in Supplementary Note 2.

Published
2020

5. GWAS of epigenetic aging rates in blood reveals a critical role for TERT

Author

Steve Horvath, Morgan E. Levine, Andrea A. Baccarelli, Allan F. McRae, Massimo Mangino, James D. Stewart, Alexia Cardona, Eric A. Whitsel, Jordana T. Bell, Alexander P. Reiner, Ken K. Ong, Austin Quach, Yun Li, Philip S. Tsao, Nicholas J. Wareham, Brian H. Chen, Riccardo E. Marioni, Luting Xue, Elias Salfati, Joanne M. Murabito, Devin Absher, Abraham Aviv, Daniel Levy, Douglas P. Kiel, Pei-Chien Tsai, Lifang Hou, Toshiko Tanaka, Idil Yet, Naomi R. Wray, Luigi Ferrucci, John R. B. Perry, Roby Joehanes, Ake T. Lu, Ken Raj, Themistocles L. Assimes, Peter M. Visscher, Ian J. Deary, Felix R. Day, Kathryn L. Lunetta, Xue, Luting [0000-0001-6159-1885], Chen, Brian H [0000-0001-9065-3301], Joehanes, Roby [0000-0001-5549-9054], Mangino, Massimo [0000-0002-2167-7470], McRae, Allan F [0000-0001-5286-5485], Visscher, Peter M [0000-0002-2143-8760], Wray, Naomi R [0000-0001-7421-3357], Whitsel, Eric A [0000-0003-4843-3641], Day, Felix R [0000-0003-3789-7651], and Apollo - University of Cambridge Repository

Subjects
0301 basic medicine, Male, Telomerase, Aging, General Physics and Astronomy, Genome-wide association study, Epigenesis, Genetic, 80 and over, Leukocytes, 2.1 Biological and endogenous factors, Aetiology, lcsh:Science, Child, Cells, Cultured, Genetics, Aged, 80 and over, Multidisciplinary, Cultured, Mendelian Randomization Analysis, Middle Aged, Telomere, DNA methylation, Female, Menopause, Adult, Adolescent, Science, Cells, and over, Biology, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Young Adult, Genetic, Humans, Telomerase reverse transcriptase, Epigenetics, Gene, Aged, Menarche, Human Genome, General Chemistry, DNA Methylation, Fibroblasts, 030104 developmental biology, lcsh:Q, CpG Islands, Generic health relevance, Epigenesis, Genome-Wide Association Study
Abstract

DNA methylation age is an accurate biomarker of chronological age and predicts lifespan, but its underlying molecular mechanisms are unknown. In this genome-wide association study of 9907 individuals, we find gene variants mapping to five loci associated with intrinsic epigenetic age acceleration (IEAA) and gene variants in three loci associated with extrinsic epigenetic age acceleration (EEAA). Mendelian randomization analysis suggests causal influences of menarche and menopause on IEAA and lipoproteins on IEAA and EEAA. Variants associated with longer leukocyte telomere length (LTL) in the telomerase reverse transcriptase gene (TERT) paradoxically confer higher IEAA (P, Epigenetic clocks based on DNA methylation levels are estimators of chronological age. Here, the authors perform a GWAS of epigenetic aging rates in blood and find SNP variants in the TERT locus associated with increased intrinsic epigenetic age are also associated with longer telomeres.

Published
2017

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