Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

NHLBI Grand Opportunity Exome Sequencing Project; Leslie A Lange; Youna Hu; He Zhang; Chenyi Xue; Ellen M Schmidt; Zheng-Zheng Tang; Chris Bizon; Ethan M Lange; Joshua D Smith; Emily H Turner; Goo Jun; Hyun Min Kang; Gina Peloso; Paul Auer; Kuo-Ping Li; Jason Flannick; Ji Zhang; Christian Fuchsberger; Kyle Gaulton; Cecilia Lindgren; Adam Locke; Alisa Manning; Xueling Sim; Manuel A Rivas; Oddgeir L Holmen; Omri Gottesman; Yingchang Lu; Douglas Ruderfer; Eli A Stahl; Qing Duan; Yun Li; Peter Durda; Shuo Jiao; Aaron Isaacs; Albert Hofman; Joshua C Bis; Adolfo Correa; Michael E Griswold; Johanna Jakobsdottir; Albert V Smith; Pamela J Schreiner; Mary F Feitosa; Qunyuan Zhang; Jennifer E Huffman; Jacy Crosby; Christina L Wassel; Ron Do; Nora Franceschini; Caroline Hayward; Igor Rudan

doi:10.1016/j.ajhg.2014.01.010

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

NHLBI Grand Opportunity Exome Sequencing Project, Leslie A Lange, Youna Hu, He Zhang, Chenyi Xue, Ellen M Schmidt, Zheng-Zheng Tang, Chris Bizon, Ethan M Lange, Joshua D Smith, Emily H Turner, Goo Jun, Hyun Min Kang, Gina Peloso, Paul Auer, Kuo-Ping Li, Jason Flannick, Ji Zhang, Christian Fuchsberger, Kyle GaultonCecilia Lindgren, Adam Locke, Alisa Manning, Xueling Sim, Manuel A Rivas, Oddgeir L Holmen, Omri Gottesman, Yingchang Lu, Douglas Ruderfer, Eli A Stahl, Qing Duan, Yun Li, Peter Durda, Shuo Jiao, Aaron Isaacs, Albert Hofman, Joshua C Bis, Adolfo Correa, Michael E Griswold, Johanna Jakobsdottir, Albert V Smith, Pamela J Schreiner, Mary F Feitosa, Qunyuan Zhang, Jennifer E Huffman, Jacy Crosby, Christina L Wassel, Ron Do, Nora Franceschini, Caroline Hayward, Igor Rudan

Research output: Contribution to journal › Article › peer-review

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

Original language	English
Pages (from-to)	233-245
Number of pages	13
Journal	American Journal of Human Genetics
Volume	94
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2014.01.010
Publication status	Published - 6 Feb 2014

Keywords

DENSITY-LIPOPROTEIN-CHOLESTEROL
HEART-DISEASE
DESIGN
PLASMA
OBJECTIVES
ATHEROSCLEROSIS
SUSCEPTIBILITY
ABSORPTION
SPECTRUM
RISK

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10.1016/j.ajhg.2014.01.010

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NHLBI Grand Opportunity Exome Sequencing Project, Lange, L. A., Hu, Y., Zhang, H., Xue, C., Schmidt, E. M., Tang, Z-Z., Bizon, C., Lange, E. M., Smith, J. D., Turner, E. H., Jun, G., Kang, H. M., Peloso, G., Auer, P., Li, K-P., Flannick, J., Zhang, J., Fuchsberger, C., ... Rudan, I. (2014). Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol. American Journal of Human Genetics, 94(2), 233-245. https://doi.org/10.1016/j.ajhg.2014.01.010

NHLBI Grand Opportunity Exome Sequencing Project ; Lange, Leslie A ; Hu, Youna ; Zhang, He ; Xue, Chenyi ; Schmidt, Ellen M ; Tang, Zheng-Zheng ; Bizon, Chris ; Lange, Ethan M ; Smith, Joshua D ; Turner, Emily H ; Jun, Goo ; Kang, Hyun Min ; Peloso, Gina ; Auer, Paul ; Li, Kuo-Ping ; Flannick, Jason ; Zhang, Ji ; Fuchsberger, Christian ; Gaulton, Kyle ; Lindgren, Cecilia ; Locke, Adam ; Manning, Alisa ; Sim, Xueling ; Rivas, Manuel A ; Holmen, Oddgeir L ; Gottesman, Omri ; Lu, Yingchang ; Ruderfer, Douglas ; Stahl, Eli A ; Duan, Qing ; Li, Yun ; Durda, Peter ; Jiao, Shuo ; Isaacs, Aaron ; Hofman, Albert ; Bis, Joshua C ; Correa, Adolfo ; Griswold, Michael E ; Jakobsdottir, Johanna ; Smith, Albert V ; Schreiner, Pamela J ; Feitosa, Mary F ; Zhang, Qunyuan ; Huffman, Jennifer E ; Crosby, Jacy ; Wassel, Christina L ; Do, Ron ; Franceschini, Nora ; Hayward, Caroline ; Rudan, Igor. / Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol. In: American Journal of Human Genetics. 2014 ; Vol. 94, No. 2. pp. 233-245.

@article{51626d5dc58b42d1ab28511f56ee4198,

title = "Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol",

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",

keywords = "DENSITY-LIPOPROTEIN-CHOLESTEROL, HEART-DISEASE, DESIGN, PLASMA, OBJECTIVES, ATHEROSCLEROSIS, SUSCEPTIBILITY, ABSORPTION, SPECTRUM, RISK",

author = "{NHLBI Grand Opportunity Exome Sequencing Project} and Lange, {Leslie A} and Youna Hu and He Zhang and Chenyi Xue and Schmidt, {Ellen M} and Zheng-Zheng Tang and Chris Bizon and Lange, {Ethan M} and Smith, {Joshua D} and Turner, {Emily H} and Goo Jun and Kang, {Hyun Min} and Gina Peloso and Paul Auer and Kuo-Ping Li and Jason Flannick and Ji Zhang and Christian Fuchsberger and Kyle Gaulton and Cecilia Lindgren and Adam Locke and Alisa Manning and Xueling Sim and Rivas, {Manuel A} and Holmen, {Oddgeir L} and Omri Gottesman and Yingchang Lu and Douglas Ruderfer and Stahl, {Eli A} and Qing Duan and Yun Li and Peter Durda and Shuo Jiao and Aaron Isaacs and Albert Hofman and Bis, {Joshua C} and Adolfo Correa and Griswold, {Michael E} and Johanna Jakobsdottir and Smith, {Albert V} and Schreiner, {Pamela J} and Feitosa, {Mary F} and Qunyuan Zhang and Huffman, {Jennifer E} and Jacy Crosby and Wassel, {Christina L} and Ron Do and Nora Franceschini and Caroline Hayward and Igor Rudan",

year = "2014",

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day = "6",

doi = "10.1016/j.ajhg.2014.01.010",

language = "English",

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pages = "233--245",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

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NHLBI Grand Opportunity Exome Sequencing Project, Lange, LA, Hu, Y, Zhang, H, Xue, C, Schmidt, EM, Tang, Z-Z, Bizon, C, Lange, EM, Smith, JD, Turner, EH, Jun, G, Kang, HM, Peloso, G, Auer, P, Li, K-P, Flannick, J, Zhang, J, Fuchsberger, C, Gaulton, K, Lindgren, C, Locke, A, Manning, A, Sim, X, Rivas, MA, Holmen, OL, Gottesman, O, Lu, Y, Ruderfer, D, Stahl, EA, Duan, Q, Li, Y, Durda, P, Jiao, S, Isaacs, A, Hofman, A, Bis, JC, Correa, A, Griswold, ME, Jakobsdottir, J, Smith, AV, Schreiner, PJ, Feitosa, MF, Zhang, Q, Huffman, JE, Crosby, J, Wassel, CL, Do, R, Franceschini, N, Hayward, C & Rudan, I 2014, 'Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol', American Journal of Human Genetics, vol. 94, no. 2, pp. 233-245. https://doi.org/10.1016/j.ajhg.2014.01.010

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol. / NHLBI Grand Opportunity Exome Sequencing Project; Lange, Leslie A; Hu, Youna; Zhang, He; Xue, Chenyi; Schmidt, Ellen M; Tang, Zheng-Zheng; Bizon, Chris; Lange, Ethan M; Smith, Joshua D; Turner, Emily H; Jun, Goo; Kang, Hyun Min; Peloso, Gina; Auer, Paul; Li, Kuo-Ping; Flannick, Jason; Zhang, Ji; Fuchsberger, Christian; Gaulton, Kyle; Lindgren, Cecilia; Locke, Adam; Manning, Alisa; Sim, Xueling; Rivas, Manuel A; Holmen, Oddgeir L; Gottesman, Omri; Lu, Yingchang; Ruderfer, Douglas; Stahl, Eli A; Duan, Qing; Li, Yun; Durda, Peter; Jiao, Shuo; Isaacs, Aaron; Hofman, Albert; Bis, Joshua C; Correa, Adolfo; Griswold, Michael E; Jakobsdottir, Johanna; Smith, Albert V; Schreiner, Pamela J; Feitosa, Mary F; Zhang, Qunyuan; Huffman, Jennifer E; Crosby, Jacy; Wassel, Christina L; Do, Ron; Franceschini, Nora; Hayward, Caroline ; Rudan, Igor.

In: American Journal of Human Genetics, Vol. 94, No. 2, 06.02.2014, p. 233-245.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

AU - NHLBI Grand Opportunity Exome Sequencing Project

AU - Lange, Leslie A

AU - Hu, Youna

AU - Zhang, He

AU - Xue, Chenyi

AU - Schmidt, Ellen M

AU - Tang, Zheng-Zheng

AU - Bizon, Chris

AU - Lange, Ethan M

AU - Smith, Joshua D

AU - Turner, Emily H

AU - Jun, Goo

AU - Kang, Hyun Min

AU - Peloso, Gina

AU - Auer, Paul

AU - Li, Kuo-Ping

AU - Flannick, Jason

AU - Zhang, Ji

AU - Fuchsberger, Christian

AU - Gaulton, Kyle

AU - Lindgren, Cecilia

AU - Locke, Adam

AU - Manning, Alisa

AU - Sim, Xueling

AU - Rivas, Manuel A

AU - Holmen, Oddgeir L

AU - Gottesman, Omri

AU - Lu, Yingchang

AU - Ruderfer, Douglas

AU - Stahl, Eli A

AU - Duan, Qing

AU - Li, Yun

AU - Durda, Peter

AU - Jiao, Shuo

AU - Isaacs, Aaron

AU - Hofman, Albert

AU - Bis, Joshua C

AU - Correa, Adolfo

AU - Griswold, Michael E

AU - Jakobsdottir, Johanna

AU - Smith, Albert V

AU - Schreiner, Pamela J

AU - Feitosa, Mary F

AU - Zhang, Qunyuan

AU - Huffman, Jennifer E

AU - Crosby, Jacy

AU - Wassel, Christina L

AU - Do, Ron

AU - Franceschini, Nora

AU - Hayward, Caroline

AU - Rudan, Igor

PY - 2014/2/6

Y1 - 2014/2/6

N2 - 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

AB - 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

KW - DENSITY-LIPOPROTEIN-CHOLESTEROL

KW - HEART-DISEASE

KW - DESIGN

KW - PLASMA

KW - OBJECTIVES

KW - ATHEROSCLEROSIS

KW - SUSCEPTIBILITY

KW - ABSORPTION

KW - SPECTRUM

KW - RISK

U2 - 10.1016/j.ajhg.2014.01.010

DO - 10.1016/j.ajhg.2014.01.010

M3 - Article

C2 - 24507775

VL - 94

SP - 233

EP - 245

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 2

ER -

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

Abstract

Keywords

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