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Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

Authors :
Lange, L.A. (Leslie)
Hu, Y. (Youna)
Zhang, H. (He)
Xue, C. (Chenyi)
Schmidt, E.M. (Ellen)
Tang, Z.-Z. (Zheng-Zheng)
Bizon, C. (Chris)
Lange, E.M. (Ethan)
Smith, A.V. (Davey)
Turner, E.H. (Emily)
Jun, Y. (Yang)
Kang, H.M. (Hyun Min)
Peloso, G.M. (Gina)
Auer, P. (Paul)
Li, K.-P. (Kuo-Ping)
Flannick, J. (Jason)
Zhang, J. (Ji)
Fuchsberger, C. (Christian)
Gaulton, K. (Kyle)
Lindgren, C.M. (Cecilia)
Locke, A. (Adam)
Manning, A.K. (Alisa)
Sim, X. (Xueling)
Rivas, M.A. (Manuel)
Holmen, O.L. (Oddgeir)
Gottesman, R.F. (Rebecca)
Lu, Y. (Yingchang)
Ruderfer, D. (Douglas)
Stahl, E.A. (Eli)
Duan, Q. (Qing)
Li, Y. (Yun)
Durda, P. (Peter)
Jiao, S. (Shuo)
Isaacs, A.J. (Aaron)
Hofman, A. (Albert)
Bis, J.C. (Joshua)
Correa, D.D.
Griswold, M.D. (Michael)
Jakobsdottir, M. (Margret)
Schreiner, P.J. (Pamela)
Feitosa, M.F. (Mary Furlan)
Zhang, Q. (Qunyuan)
Huffman, J.E. (Jennifer)
Crosby, S.
Wassel, C.L. (Christina)
Do, R. (Ron)
Franceschini, N. (Nora)
Martin, L.W. (Lisa)
Robinson, J.G. (Jennifer)
Assimes, T.L. (Themistocles)
Crosslin, D.R. (David)
Rosenthal, E.A. (Elisabeth)
Tsai, M.Y. (Michael)
Rieder, M. (Mark)
Farlow, D.N. (Deborah)
Folsom, A.R. (Aaron)
Lumley, T. (Thomas)
Fox, E.R. (Ervin)
Carlson, C.S. (Christopher)
Peters, U. (Ulrike)
Jackson, R.D. (Rebecca)
Duijn, C.M. (Cornelia) van
Uitterlinden, A.G. (André)
Levy, D. (Daniel)
Rotter, J.I. (Jerome)
Taylor, H.A. (Herman)
Gudnason, V. (Vilmundur)
Siscovick, D.S. (David)
Fornage, M. (Myriam)
Borecki, I.B. (Ingrid)
Hayward, C. (Caroline)
Rudan, I. (Igor)
Chen, Y.E. (Y. Eugene)
Bottinger, E.P. (Erwin)
Loos, R.J.F. (Ruth)
Sætrom, P. (Pål)
Hveem, K. (Kristian)
Boehnke, M. (Michael)
Groop, L. (Leif)
McCarthy, M.I. (Mark)
Meitinger, T. (Thomas)
Ballantyne, C. (Christie)
Gabriel, S.B. (Stacey)
O'Donnell, C.J. (Christopher)
Post, W.S. (Wendy S.)
North, K.E. (Kari)
Reiner, A. (Alexander)
Boerwinkle, E.A. (Eric)
Psaty, B.M. (Bruce)
Altshuler, D. (David)
Kathiresan, S. (Sekar)
Lin, D.Y. (Dan)
Jarvik, G.P. (Gail)
Cupples, L.A. (Adrienne)
Kooperberg, C. (Charles)
Wilson, J.G. (James)
Nickerson, D.A. (Deborah)
Abecasis, G.R. (Gonçalo)
Rich, S.S. (Stephen)
Tracy, R.P. (Russell)
Willer, C.J. (Cristen)
Lange, L.A. (Leslie)
Hu, Y. (Youna)
Zhang, H. (He)
Xue, C. (Chenyi)
Schmidt, E.M. (Ellen)
Tang, Z.-Z. (Zheng-Zheng)
Bizon, C. (Chris)
Lange, E.M. (Ethan)
Smith, A.V. (Davey)
Turner, E.H. (Emily)
Jun, Y. (Yang)
Kang, H.M. (Hyun Min)
Peloso, G.M. (Gina)
Auer, P. (Paul)
Li, K.-P. (Kuo-Ping)
Flannick, J. (Jason)
Zhang, J. (Ji)
Fuchsberger, C. (Christian)
Gaulton, K. (Kyle)
Lindgren, C.M. (Cecilia)
Locke, A. (Adam)
Manning, A.K. (Alisa)
Sim, X. (Xueling)
Rivas, M.A. (Manuel)
Holmen, O.L. (Oddgeir)
Gottesman, R.F. (Rebecca)
Lu, Y. (Yingchang)
Ruderfer, D. (Douglas)
Stahl, E.A. (Eli)
Duan, Q. (Qing)
Li, Y. (Yun)
Durda, P. (Peter)
Jiao, S. (Shuo)
Isaacs, A.J. (Aaron)
Hofman, A. (Albert)
Bis, J.C. (Joshua)
Correa, D.D.
Griswold, M.D. (Michael)
Jakobsdottir, M. (Margret)
Schreiner, P.J. (Pamela)
Feitosa, M.F. (Mary Furlan)
Zhang, Q. (Qunyuan)
Huffman, J.E. (Jennifer)
Crosby, S.
Wassel, C.L. (Christina)
Do, R. (Ron)
Franceschini, N. (Nora)
Martin, L.W. (Lisa)
Robinson, J.G. (Jennifer)
Assimes, T.L. (Themistocles)
Crosslin, D.R. (David)
Rosenthal, E.A. (Elisabeth)
Tsai, M.Y. (Michael)
Rieder, M. (Mark)
Farlow, D.N. (Deborah)
Folsom, A.R. (Aaron)
Lumley, T. (Thomas)
Fox, E.R. (Ervin)
Carlson, C.S. (Christopher)
Peters, U. (Ulrike)
Jackson, R.D. (Rebecca)
Duijn, C.M. (Cornelia) van
Uitterlinden, A.G. (André)
Levy, D. (Daniel)
Rotter, J.I. (Jerome)
Taylor, H.A. (Herman)
Gudnason, V. (Vilmundur)
Siscovick, D.S. (David)
Fornage, M. (Myriam)
Borecki, I.B. (Ingrid)
Hayward, C. (Caroline)
Rudan, I. (Igor)
Chen, Y.E. (Y. Eugene)
Bottinger, E.P. (Erwin)
Loos, R.J.F. (Ruth)
Sætrom, P. (Pål)
Hveem, K. (Kristian)
Boehnke, M. (Michael)
Groop, L. (Leif)
McCarthy, M.I. (Mark)
Meitinger, T. (Thomas)
Ballantyne, C. (Christie)
Gabriel, S.B. (Stacey)
O'Donnell, C.J. (Christopher)
Post, W.S. (Wendy S.)
North, K.E. (Kari)
Reiner, A. (Alexander)
Boerwinkle, E.A. (Eric)
Psaty, B.M. (Bruce)
Altshuler, D. (David)
Kathiresan, S. (Sekar)
Lin, D.Y. (Dan)
Jarvik, G.P. (Gail)
Cupples, L.A. (Adrienne)
Kooperberg, C. (Charles)
Wilson, J.G. (James)
Nickerson, D.A. (Deborah)
Abecasis, G.R. (Gonçalo)
Rich, S.S. (Stephen)
Tracy, R.P. (Russell)
Willer, C.J. (Cristen)
Publication Year :
2014

Abstract

Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for cardiovascular disease. Genome-wide association studies (GWASs) have identified 157 variants associated with lipid levels but are not well suited to assess the impact of rare and low-frequency variants. To determine whether rare or low-frequency coding variants are associated with LDL-C, we exome sequenced 2,005 individuals, including 554 individuals selected for extreme LDL-C (>98th or <2nd percentile). Follow-up analyses included sequencing of 1,302 additional individuals and genotype-based analysis of 52,221 individuals. We observed significant evidence of association between LDL-C and the burden of rare or low-frequency variants in PNPLA5, encoding a phospholipase-domain-containing protein, and both known and previousl

Details

Database :
OAIster
Notes :
American Journal of Human Genetics vol. 94 no. 2, pp. 233-245, English
Publication Type :
Electronic Resource
Accession number :
edsoai.ocn957102019
Document Type :
Electronic Resource
Full Text :
https://doi.org/10.1016.j.ajhg.2014.01.010
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