Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

Autor: Pradeep Natarajan, Akhil Pampana, Sarah E. Graham, Sanni E. Ruotsalainen, James A. Perry, Paul S. de Vries, Jai G. Broome, James P. Pirruccello, Michael C. Honigberg, Krishna Aragam, Brooke Wolford, Jennifer A. Brody, Lucinda Antonacci-Fulton, Moscati Arden, Stella Aslibekyan, Themistocles L. Assimes, Christie M. Ballantyne, Lawrence F. Bielak, Joshua C. Bis, Brian E. Cade, Ron Do, Harsha Doddapaneni, Leslie S. Emery, Yi-Jen Hung, Marguerite R. Irvin, Alyna T. Khan, Leslie Lange, Jiwon Lee, Rozenn N. Lemaitre, Lisa W. Martin, Ginger Metcalf, May E. Montasser, Jee-Young Moon, Donna Muzny, Jeffrey R. O’Connell, Nicholette D. Palmer, Juan M. Peralta, Patricia A. Peyser, Adrienne M. Stilp, Michael Tsai, Fei Fei Wang, Daniel E. Weeks, Lisa R. Yanek, James G. Wilson, Goncalo Abecasis, Donna K. Arnett, Lewis C. Becker, John Blangero, Eric Boerwinkle, Donald W. Bowden, Yi-Cheng Chang, Yii-Der I. Chen, Won Jung Choi, Adolfo Correa, Joanne E. Curran, Mark J. Daly, Susan K. Dutcher, Patrick T. Ellinor, Myriam Fornage, Barry I. Freedman, Stacey Gabriel, Soren Germer, Richard A. Gibbs, Jiang He, Kristian Hveem, Gail P. Jarvik, Robert C. Kaplan, Sharon L. R. Kardia, Eimear Kenny, Ryan W. Kim, Charles Kooperberg, Cathy C. Laurie, Seonwook Lee, Don M. Lloyd-Jones, Ruth J. F. Loos, Steven A. Lubitz, Rasika A. Mathias, Karine A. Viaud Martinez, Stephen T. McGarvey, Braxton D. Mitchell, Deborah A. Nickerson, Kari E. North, Aarno Palotie, Cheol Joo Park, Bruce M. Psaty, D. C. Rao, Susan Redline, Alexander P. Reiner, Daekwan Seo, Jeong-Sun Seo, Albert V. Smith, Russell P. Tracy, Ramachandran S. Vasan, Sekar Kathiresan, L. Adrienne Cupples, Jerome I. Rotter, Alanna C. Morrison, Stephen S. Rich, Samuli Ripatti, Cristen Willer, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, FinnGen, Gina M. Peloso

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)

The influence of X chromosome genetic variation on blood lipids and coronary heart disease (CHD) is not well understood. Here, the authors analyse X chromosome sequencing data across 65,322 multi-ancestry individuals, identifying associations of the

Externí odkaz: https://doaj.org/article/09cb57a2d8544b5e803b374995f412e4

Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes

Autor: George Hindy, Peter Dornbos, Mark D. Chaffin, Dajiang J. Liu, Minxian Wang, Margaret Sunitha Selvaraj, David Zhang, Joseph Park, Carlos A. Aguilar-Salinas, Lucinda Antonacci-Fulton, Diego Ardissino, Donna K. Arnett, Stella Aslibekyan, Gil Atzmon, Christie M. Ballantyne, Francisco Barajas-Olmos, Nir Barzilai, Lewis C. Becker, Lawrence F. Bielak, Joshua C. Bis, John Blangero, Eric Boerwinkle, Lori L. Bonnycastle, Erwin Bottinger, Donald W. Bowden, Matthew J. Bown, Jennifer A. Brody, Jai G. Broome, Noël P. Burtt, Brian E. Cade, Federico Centeno-Cruz, Edmund Chan, Yi-Cheng Chang, Yii-Der I. Chen, Ching-Yu Cheng, Won Jung Choi, Rajiv Chowdhury, Cecilia Contreras-Cubas, Emilio J. Córdova, Adolfo Correa, L. Adrienne Cupples, Joanne E. Curran, John Danesh, Paul S. de Vries, Ralph A. DeFronzo, Harsha Doddapaneni, Ravindranath Duggirala, Susan K. Dutcher, Patrick T. Ellinor, Leslie S. Emery, Jose C. Florez, Myriam Fornage, Barry I. Freedman, Valentin Fuster, Ma. Eugenia Garay-Sevilla, Humberto García-Ortiz, Soren Germer, Richard A. Gibbs, Christian Gieger, Benjamin Glaser, Clicerio Gonzalez, Maria Elena Gonzalez-Villalpando, Mariaelisa Graff, Sarah E. Graham, Niels Grarup, Leif C. Groop, Xiuqing Guo, Namrata Gupta, Sohee Han, Craig L. Hanis, Torben Hansen, Jiang He, Nancy L. Heard-Costa, Yi-Jen Hung, Mi Yeong Hwang, Marguerite R. Irvin, Sergio Islas-Andrade, Gail P. Jarvik, Hyun Min Kang, Sharon L.R. Kardia, Tanika Kelly, Eimear E. Kenny, Alyna T. Khan, Bong-Jo Kim, Ryan W. Kim, Young Jin Kim, Heikki A. Koistinen, Charles Kooperberg, Johanna Kuusisto, Soo Heon Kwak, Markku Laakso, Leslie A. Lange, Jiwon Lee, Juyoung Lee, Seonwook Lee, Donna M. Lehman, Rozenn N. Lemaitre, Allan Linneberg, Jianjun Liu, Ruth J.F. Loos, Steven A. Lubitz, Valeriya Lyssenko, Ronald C.W. Ma, Lisa Warsinger Martin, Angélica Martínez-Hernández, Rasika A. Mathias, Stephen T. McGarvey, Ruth McPherson, James B. Meigs, Thomas Meitinger, Olle Melander, Elvia Mendoza-Caamal, Ginger A. Metcalf, Xuenan Mi, Karen L. Mohlke, May E. Montasser, Jee-Young Moon, Hortensia Moreno-Macías, Alanna C. Morrison, Donna M. Muzny, Sarah C. Nelson, Peter M. Nilsson, Jeffrey R. O’Connell, Marju Orho-Melander, Lorena Orozco, Colin N.A. Palmer, Nicholette D. Palmer, Cheol Joo Park, Kyong Soo Park, Oluf Pedersen, Juan M. Peralta, Patricia A. Peyser, Wendy S. Post, Michael Preuss, Bruce M. Psaty, Qibin Qi, D.C. Rao, Susan Redline, Alexander P. Reiner, Cristina Revilla-Monsalve, Stephen S. Rich, Nilesh Samani, Heribert Schunkert, Claudia Schurmann, Daekwan Seo, Jeong-Sun Seo, Xueling Sim, Rob Sladek, Kerrin S. Small, Wing Yee So, Adrienne M. Stilp, E. Shyong Tai, Claudia H.T. Tam, Kent D. Taylor, Yik Ying Teo, Farook Thameem, Brian Tomlinson, Michael Y. Tsai, Tiinamaija Tuomi, Jaakko Tuomilehto, Teresa Tusié-Luna, Miriam S. Udler, Rob M. van Dam, Ramachandran S. Vasan, Karine A. Viaud Martinez, Fei Fei Wang, Xuzhi Wang, Hugh Watkins, Daniel E. Weeks, James G. Wilson, Daniel R. Witte, Tien-Yin Wong, Lisa R. Yanek, Sekar Kathiresan, Daniel J. Rader, Jerome I. Rotter, Michael Boehnke, Mark I. McCarthy, Cristen J. Willer, Pradeep Natarajan, Jason A. Flannick, Amit V. Khera, Gina M. Peloso

Publikováno v: Hindy, G, Dornbos, P, Chaffin, M D, Liu, D J, Wang, M, Selvaraj, M S, Zhang, D, Park, J, Aguilar-Salinas, C A, Antonacci-Fulton, L, Ardissino, D, Arnett, D K, Aslibekyan, S, Atzmon, G, Ballantyne, C M, Barajas-Olmos, F, Barzilai, N, Becker, L C, Bielak, L F, Bis, J C, Blangero, J, Boerwinkle, E, Bonnycastle, L L, Bottinger, E, Bowden, D W, Bown, M J, Brody, J A, Broome, J G, Burtt, N P, Cade, B E, Centeno-Cruz, F, Chan, E, Chang, Y C, Chen, Y D I, Cheng, C Y, Choi, W J, Chowdhury, R, Contreras-Cubas, C, Córdova, E J, Correa, A, Cupples, L A, Curran, J E, Danesh, J, de Vries, P S, Grarup, N, Hansen, T, Linneberg, A, Loos, R J F, Pedersen, O, Witte, D R, AMP-T2D-GENES, Myocardial Infarction Genetics Consortium, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium & NHLBI TOPMed Lipids Working Group 2022, ' Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes ', American Journal of Human Genetics, vol. 109, no. 1, pp. 81-96 . https://doi.org/10.1016/j.ajhg.2021.11.021
Am J Hum Genet
Hindy, G, Dornbos, P, Chaffin, M D, Liu, D J, Wang, M, Selvaraj, M S, Zhang, D, Park, J, Aguilar-Salinas, C A, Antonacci-Fulton, L, Ardissino, D, Arnett, D K, Aslibekyan, S, Atzmon, G, Ballantyne, C M, Barajas-Olmos, F, Barzilai, N, Becker, L C, Bielak, L F, Bis, J C, Blangero, J, Boerwinkle, E, Bonnycastle, L L, Bottinger, E, Bowden, D W, Bown, M J, Brody, J A, Broome, J G, Burtt, N P, Cade, B E, Centeno-Cruz, F, Chan, E, Chang, Y C, Chen, Y D I, Cheng, C Y, Choi, W J, Chowdhury, R, Contreras-Cubas, C, Córdova, E J, Correa, A, Cupples, L A, Curran, J E, Danesh, J, de Vries, P S, DeFronzo, R A, Grarup, N, Hansen, T, Pedersen, O, Wang, F F, Witte, D R, AMP-T2D-GENES, Myocardial Infarction Genetics Consortium, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium & NHLBI TOPMed Lipids Working Group 2022, ' Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes ', American Journal of Human Genetics, vol. 109, no. 1, pp. 81-96 . https://doi.org/10.1016/j.ajhg.2021.11.021
Hindy, G, Dornbos, P, Chaffin, M D, Liu, D J, Wang, M, Selvaraj, M S, Zhang, D, Park, J, Aguilar-Salinas, C A, Antonacci-Fulton, L, Ardissino, D, Arnett, D K, Aslibekyan, S, Atzmon, G, Ballantyne, C M, Barajas-Olmos, F, Barzilai, N, Becker, L C, Bielak, L F, Bis, J C, Blangero, J, Boerwinkle, E, Bonnycastle, L L, Bottinger, E, Bowden, D W, Bown, M J, Brody, J A, Broome, J G, Burtt, N P, Cade, B E, Centeno-Cruz, F, Chan, E, Chang, Y-C, Chen, Y-D I, Cheng, C-Y, Choi, W J, Chowdhury, R, Contreras-Cubas, C, Córdova, E J, Correa, A, Cupples, L A, Curran, J E, Danesh, J, de Vries, P S, DeFronzo, R A, Doddapaneni, H, Duggirala, R, Dutcher, S K, Ellinor, P T, Grarup, N, Hansen, T, Pedersen, O, Linneberg, A, Witte, D R & AMP-T2D-GENES, Myocardial Infarction Genetics Consortium 2022, ' Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes ', American Journal of Human Genetics, vol. 109, no. 1, pp. 81-96 . https://doi.org/10.1016/j.ajhg.2021.11.021

Large-scale gene sequencing studies for complex traits have the potential to identify causal genes with therapeutic implications. We performed gene-based association testing of blood lipid levels with rare (minor allele frequency < 1%) predicted dama

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d53d518c5a9781ccf6a21517fa2887b9
https://hdl.handle.net/20.500.12105/15626

Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program

Autor: Charles Kooperberg, Stephen T. McGarvey, Robert Sladek, Tanika N. Kelly, Juan M. Peralta, Ching-Ti Liu, Yii-Der Ida Chen, Alain G. Bertoni, Alanna C. Morrison, Ravindranath Duggirala, James A. Perry, Jose C. Florez, JoAnn E. Manson, James G. Wilson, Seonwook Lee, Rita R. Kalyani, Elizabeth Selvin, Emily M. Russell, Lawrence F. Bielak, Timothy D. Majarian, Patricia A. Peyser, Daniel DiCorpo, Brian E. Cade, Josée Dupuis, L. Adrienne Cupples, Kent D. Taylor, Eric Boerwinkle, Heming Wang, Xihong Lin, Laura M. Raffield, Sharon L.R. Kardia, Alvaro Alonso, Peitao Wu, Jerome I. Rotter, Douglas Loesch, Ricardo D’Oliveira Albanus, Samantha Lent, Jennifer A. Smith, Abigail S. Baldridge, Wei Zhao, Ramachandran S. Vasan, Bertha Hidalgo, Mark O. Goodarzi, Daniel E. Weeks, Arushi Varshney, Anne U. Jackson, Marguerite R. Irvin, Xiuqing Guo, Leslie A. Lange, Marcio Almeida, Kenneth Westerman, Jeffrey R. O'Connell, Braxton D. Mitchell, Alisa K. Manning, Susan R. Heckbert, Jiang He, Jie Yao, Donna K. Arnett, Stephen S. Rich, Paul S. de Vries, Heather M. Highland, Huichun Xu, Joanne E. Curran, Nicholette D. Palmer, Bruce M. Psaty, James S. Floyd, Won Jung Choi, Adolfo Correa, John Blangero, James B. Meigs, May E. Montasser, Ryan W. Kim, Jennifer A. Brody, Deepti Jain, Stephen C. J. Parker, Simin Liu, Laura J. Rasmussen-Torvik, Sheila M. Gaynor, Susan Redline, Alexander P. Reiner, Chloé Sarnowski, Alan R. Shuldiner, James S. Pankow, Jennifer Wessel, Lisa R. Yanek, Stella Aslibekyan, Karine A. Viaud-Martinez, Natalie R Hasbani, Rasika A. Mathias, Chung-Shiuan Chen

The genetic determinants of fasting glucose (FG) and fasting insulin (FI) have been studied mostly through genome and exome arrays, resulting in over 100 associated variants. We extended this work with a high-coverage whole genome sequencing (WGS) an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5e058b121e3f0d09a277f465d848e734
https://doi.org/10.1101/2020.12.31.20234310

Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes

Autor: Heming Wang, Lu-Chen Weng, Ryan W. Kim, May E. Montasser, Stephen T. McGarvey, Anubha Mahajan, Robert Sladek, Marcio Almeida, Dan M. Roden, Deepti Jain, Barry I. Freedman, Jeffrey R. O'Connell, Donna K. Arnett, Alanna C. Morrison, Susan R. Heckbert, Nicholette D. Palmer, Jie Yao, Jorge Ferrer, Timothy D. Majarian, Wei Zhao, JoAnn E. Manson, Mark I. McCarthy, Sharon L.R. Kardia, James A. Perry, Nicholas L. Smith, Alain G. Bertoni, James G. Wilson, Mark O. Goodarzi, Leslie A. Lange, Donald W. Bowden, L. Adrienne Cupples, Laura J. Rasmussen-Torvik, Yii-Der Ida Chen, Jennifer A. Smith, James S. Floyd, Sílvia Bonàs-Guarch, Zachary T. Yoneda, Rita R. Kalyani, Won Jung Choi, Ramachandran S. Vasan, Eric Boerwinkle, Ching-Ti Liu, Stephen C. J. Parker, Susan Redline, Paul S. de Vries, Huichun Xu, Daniel DiCorpo, Adolfo Correa, James S. Pankow, Stephen S. Rich, Heather M. Highland, Ravindranath Duggirala, Elizabeth Selvin, Kent D. Taylor, Dawood Darbar, Tanika N. Kelly, Bruce M. Psaty, Simin Liu, Xianyong Yin, Michael H. Cho, Abigail S. Baldridge, Alexander P. Reiner, Patricia A. Peyser, Seung Hoan Choi, Brian E. Cade, Chloé Sarnowski, Aladdin H. Shadyab, Gregory L Kinney, Daniel E. Weeks, Braxton D. Mitchell, Alisa K. Manning, Douglas Loesch, Steven A. Lubitz, Josée Dupuis, Ryan Irvin, Samantha Lent, Sridharan Raghavan, Bertha Hidalgo, Arushi Varshney, Ricardo D’Oliveira Albanus, Xiuqing Guo, Jennifer Wessel, Rasika A. Mathias, Jennifer A. Brody, Aaron Leong, John Blangero, James B. Meigs, Chung-Shiuan Chen, Lawrence F. Bielak, Lisa R. Yanek, Stella Aslibekyan, Rami Nassir, Karine A. Viaud-Martinez, Natalie R Hasbani, Irene Miguel-Escalada, Alvaro Alonso, Charles Kooperberg, Juan M. Peralta, Jose C. Florez, M. Benjamin Shoemaker, Seonwook Lee, Peitao Wu, Jerome I. Rotter, Jiang He, Patrick T. Ellinor, Mindy D. Szeto, Joanne E. Curran

Type 2 diabetes is increasing in all ancestry groups1. Part of its genetic basis may reside among the rare (minor allele frequency 2. We analyzed high-coverage (mean depth 38.2x) whole genome sequencing from 9,639 individuals with T2D and 34,994 cont

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fc824b69cd35fc07803a4169be0a6784
https://doi.org/10.1101/2020.11.13.20221812

Genome analysis of Hibiscus syriacus provides insights of polyploidization and indeterminate flowering in woody plants

Autor: Pan-Gyu Kim, Seon-In Yeom, Yong-Min Kim, Myung-Shin Kim, Min-Seo Kim, Tae-Jin Yang, Beom-Seok Park, Seong-Jin Park, Namjin Koo, Sang-Bong Choi, JiHye Hwang, Gunhwan Ko, Ji-Eun Park, Jungho Lee, Ik-Young Choi, Insu Jang, Ki-Byung Lim, Won-Hee Kang, Eunyoung Seo, Doil Choi, Seungill Kim, Suk-Yoon Kwon, Ah-Young Shin, Ryan W. Kim, Jinhyuk Choi, Je Min Lee, Iksu Byeon

Publikováno v: DNA Research: An International Journal for Rapid Publication of Reports on Genes and Genomes

Hibiscus syriacus (L.) (rose of Sharon) is one of the most widespread garden shrubs in the world. We report a draft of the H. syriacus genome comprised of a 1.75 Gb assembly that covers 92% of the genome with only 1.7% (33 Mb) gap sequences. Predicte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9a141bbf8e3f3086c445b15dc669bd6
http://europepmc.org/articles/PMC5381346