Article
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
American journal of human genetics - 6 Feb 2014
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, Martin Lisa W, Robinson Jennifer G, Assimes Themistocles L, Crosslin David R, Rosenthal Elisabeth A, Tsai Michael, Rieder Mark J, Farlow Deborah N, Folsom Aaron R, Lumley Thomas, Fox Ervin R, Carlson Christopher S, Peters Ulrike, Jackson Rebecca D, van Duijn Cornelia M, Uitterlinden André G, Levy Daniel, Rotter Jerome I, Taylor Herman A, Gudnason Vilmundur, Siscovick David S, Fornage Myriam, Borecki Ingrid B, Hayward Caroline, Rudan Igor, Chen Y Eugene, Bottinger Erwin P, Loos Ruth J F, Sætrom Pål, Hveem Kristian, Boehnke Michael, Groop Leif, McCarthy Mark, Meitinger Thomas, Ballantyne Christie M, Gabriel Stacey B, O'Donnell Christopher J, Post Wendy S, North Kari E, Reiner Alexander P, Boerwinkle Eric, Psaty Bruce M, Altshuler David, Kathiresan Sekar, Lin Dan-Yu, Jarvik Gail P, Cupples L Adrienne, Kooperberg Charles, Wilson James G, Nickerson Deborah A, Abecasis Goncalo R, Rich Stephen S, Tracy Russell P, Willer Cristen J
Abstract excerpt
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...
