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

American Journal of Human Genetics

Volumn 94, Issue 2, 2014, Pages 233-245

  Lange, Leslie A ^a   Hu, Youna ^b   Zhang, He ^c   Xue, Chenyi ^c   Schmidt, Ellen M ^c   Tang, Zheng Zheng ^d   Bizon, Chris ^e   Lange, Ethan M ^a,d   Smith, Joshua D ^f   Turner, Emily H ^f   Jun, Goo ^b   Kang, Hyun Min ^b   Peloso, Gina ^g,h   Auer, Paul ^i,j   Li, Kuo Ping ^b   Flannick, Jason ^g,h   Zhang, Ji ^c   Fuchsberger, Christian ^b   Gaulton, Kyle ^k   Lindgren, Cecilia ^k   Locke, Adam ^b   Manning, Alisa ^h,j,l   Sim, Xueling ^b   Rivas, Manuel A ^k   Holmen, Oddgeir L ^m   Gottesman, Omri ⁿ   Lu, Yingchang ⁿ   Ruderfer, Douglas ⁿ   Stahl, Eli A ⁿ   Duan, Qing ^a   Li, Yun ^a,d,o   Durda, Peter ^p   Jiao, Shuo ⁱ   Isaacs, Aaron ^q   Hofman, Albert ^q   Bis, Joshua C ^r   Correa, Adolfo ^s   Griswold, Michael E ^s   Jakobsdottir, Johanna ^t   Smith, Albert V ^t,u   Schreiner, Pamela J ^v   Feitosa, Mary F ^w   Zhang, Qunyuan ^w   Huffman, Jennifer E ^x   Crosby, Jacy ^y   Wassel, Christina L ^z   Do, Ron ^g,h   Franceschini, Nora ^d   Martin, Lisa W ^aa   Robinson, Jennifer G ^ab   Assimes, Themistocles L ^ac   Crosslin, David R ^f,r   Rosenthal, Elisabeth A ^r   Tsai, Michael ^v   Rieder, Mark J ^f   Farlow, Deborah N ^h   Folsom, Aaron R ^v   Lumley, Thomas ^f,ad   Fox, Ervin R ^s   Carlson, Christopher S ⁱ   Peters, Ulrike ⁱ   Jackson, Rebecca D ^ae   van Duijn, Cornelia M ^q   Uitterlinden, André G ^q   Levy, Daniel ^af   Rotter, Jerome I ^ag   Taylor, Herman A ^s,ah,ai   Gudnason, Vilmundur ^t,u   Siscovick, David S ^f,r,aj   Fornage, Myriam ^y,ak   Borecki, Ingrid B ^w   Hayward, Caroline ^x   Rudan, Igor ^al   Eugene Chen, Y ^c   Bottinger, Erwin P ⁿ   Loos, Ruth J F ⁿ   Sætrom, Pål ^m   Hveem, Kristian ^m   Boehnke, Michael ^b   Groop, Leif ^am,an   McCarthy, Mark ^ao   Meitinger, Thomas ^ap,aq   Ballantyne, Christie M ^ar,as   Gabriel, Stacey B ^h   O’donnell, Christopher J ^g,af   Post, Wendy S ^at   North, Kari E ^d   Reiner, Alexander P ^f   Boerwinkle, Eric ^y   Psaty, Bruce M ^f,r,aj,au   Altshuler, David ^g,h,l   Kathiresan, Sekar ^g,h   Lin, Dan Yu ^d   Jarvik, Gail P ^f,r   Adrienne Cupples, L ^af,av   Kooperberg, Charles ⁱ   Wilson, James G ^s   Nickerson, Deborah A ^f   Abecasis, Goncalo R ^b   Rich, Stephen S ^aw   Tracy, Russell P ^p   Willer, Cristen J ^c   Allayee, Hooman ^ax   Cresci, Sharon ^ax   Daly, Mark J ^ax   de Bakker, Paul I W ^ax   Depristo, Mark A ^ax   Donnelly, Peter ^ax   Fennell, Tim ^ax   Garimella, Kiran ^ax   Hazen, Stanley L ^ax   Jordan, Daniel M ^ax   Kiezun, Adam ^ax   Lettre, Guillaume ^ax   Li, Bingshan ^ax   Li, Mingyao ^ax   Newton Cheh, Christopher H ^ax   Padmanabhan, Sandosh ^ax   Pulit, Sara ^ax   Rader, Daniel J ^ax   Reich, David ^ax   Reilly, Muredach P ^ax   Schwartz, Steve ^ax   Scott, Laura ^ax   Spertus, John A ^ax   Stitziel, Nathaniel O ^ax   Stoletzki, Nina ^ax   Sunyaev, Shamil R ^ax   Voight, Benjamin F ^ax   Akylbekova, Ermeg ^ax   Atwood, Larry D ^ax   Barbalic, Maja ^ax   Barr, R Graham ^ax   Benjamin, Emelia J ^ax   Bowden, Donald W ^ax   Brody, Jennifer ^ax   Budoff, Matthew ^ax   Burke, Greg ^ax   Buxbaum, Sarah ^ax   Carr, Jeff ^ax   Chen, Donna T ^ax   Chen, Ida Y ^ax   Chen, Wei Min ^ax   Concannon, Pat ^ax   D’agostino, Ralph ^ax   Destefano, Anita L ^ax   Dreisbach, Albert ^ax   Dupuis, Josée ^ax   Durda, J Peter ^ax   Ellis, Jaclyn ^ax   Fox, Caroline S ^ax   Funari, Vincent ^ax   Ganesh, Santhi K ^ax   Gardin, Julius ^ax   Goff, David ^ax   Gordon, Ora ^ax   Grody, Wayne ^ax   Gross, Myron ^ax   Guo, Xiuqing ^ax   Hall, Ira M ^ax   Heard Costa, Nancy L ^ax   Heckbert, Susan R ^ax   Heintz, Nicholas ^ax   Herrington, David M ^ax   Hickson, Demarc ^ax   Huang, Jie ^ax   Hwang, Shih Jen ^ax   Jacobs, David R ^ax   Jenny, Nancy S ^ax   Johnson, Andrew D ^ax   Johnson, Craig W ^ax   Kawut, Steven ^ax   Kronmal, Richard ^ax   Kurz, Raluca ^ax   Larson, Martin G ^ax   Lawson, Mark ^ax   Lewis, Cora E ^ax   Li, Dalin ^ax   Lin, Honghuang ^ax   Liu, Chunyu ^ax   Liu, Jiankang ^ax   Liu, Kiang ^ax   Liu, Xiaoming ^ax   Liu, Yongmei ^ax   Longstreth, William T ^ax   Loria, Cay ^ax   Lunetta, Kathryn ^ax   Mackey, Aaron J ^ax   Mackey, Rachel ^ax   Manichaikul, Ani ^ax   Maxwell, Taylor ^ax   McKnight, Barbara ^ax   Meigs, James B ^ax   Morrison, Alanna C ^ax   Musani, Solomon K ^ax   Mychaleckyj, Josyf C ^ax   Nettleton, Jennifer A ^ax   O’leary, Daniel ^ax   Ong, Frank ^ax   Palmas, Walter ^ax   Pankow, James S ^ax   Pankratz, Nathan D ^ax   Paul, Shom ^ax   Perez, Marco ^ax   Person, Sharina D ^ax   Polak, Joseph ^ax   Quinlan, Aaron R ^ax   Raffel, Leslie J ^ax   Ramachandran, Vasan S ^ax   Rice, Kenneth ^ax   Sanders, Jill P ^ax   Seshadri, Sudha ^ax   Shea, Steve ^ax   Sidney, Stephen ^ax   Silverstein, Kevin ^ax   Smith, Nicholas L ^ax   Sotoodehnia, Nona ^ax   Srinivasan, Asoke ^ax   Taylor, Kent ^ax   Thomas, Fridtjof ^ax   Volcik, Kelly A ^ax   Watson, Karol ^ax   Wei, Gina ^ax   White, Wendy ^ax   Wiggins, Kerri L ^ax   Wilk, Jemma B ^ax   Williams, O Dale ^ax   Wilson, Gregory ^ax   Wolf, Phillip ^ax   Zakai, Neil A ^ax   Hardy, John ^ax   Meschia, James F ^ax   Nalls, Michael ^ax   Singleton, Andrew ^ax   Worrall, Brad ^ax   Bamshad, Michael J ^ax   Barnes, Kathleen C ^ax   Abdulhamid, Ibrahim ^ax   Accurso, Frank ^ax   Anbar, Ran ^ax   Beaty, Terri ^ax   Bigham, Abigail ^ax   Black, Phillip ^ax   Bleecker, Eugene ^ax   Buckingham, Kati ^ax   Cairns, Anne Marie ^ax   Caplan, Daniel ^ax   Chatfield, Barbara ^ax   Chidekel, Aaron ^ax   Cho, Michael ^ax   Christiani, David C ^ax   Crapo, James D ^ax   Crouch, Julia ^ax   Daley, Denise ^ax   Dang, Anthony ^ax   Dang, Hong ^ax   De Paula, Alicia ^ax   Decelie Germana, Joan ^ax   Drumm, Allen Dozormitch ^ax   Dyson, Maynard ^ax   Emerson, Julia ^ax   Emond, Mary J ^ax   Ferkol, Thomas ^ax   Fink, Robert ^ax   Foster, Cassandra ^ax   Froh, Deborah ^ax   Gao, Li ^ax   Gershan, William ^ax   Gibson, Ronald L ^ax   Godwin, Elizabeth ^ax   Gondor, Magdalen ^ax   Gutierrez, Hector ^ax   Hansel, Nadia N ^ax   Hassoun, Paul M ^ax   Hiatt, Peter ^ax   Hokanson, John E ^ax   Howenstine, Michelle ^ax   Hummer, Laura K ^ax   Kanga, Jamshed ^ax   Kim, Yoonhee ^ax   Knowles, Michael R ^ax   Konstan, Michael ^ax   Lahiri, Thomas ^ax   Laird, Nan ^ax   Lange, Christoph ^ax   Lin, Lin ^ax   Lin, Xihong ^ax   Louie, Tin L ^ax   Lynch, David ^ax   Make, Barry ^ax   Martin, Thomas R ^ax   Mathai, Steve C ^ax   Mathias, Rasika A ^ax   McNamara, John ^ax   McNamara, Sharon ^ax   Meyers, Deborah ^ax   Millard, Susan ^ax   Mogayzel, Peter ^ax   Moss, Richard ^ax   Murray, Tanda ^ax   Nielson, Dennis ^ax   Noyes, Blakeslee ^ax   O’neal, Wanda ^ax   Orenstein, David ^ax   O’sullivan, Brian ^ax   Pace, Rhonda ^ax   Pare, Peter ^ax   Parker, H Worth ^ax   Passero, Mary Ann ^ax   Perkett, Elizabeth ^ax   Prestridge, Adrienne ^ax   Rafaels, Nicholas M ^ax   Ramsey, Bonnie ^ax   Regan, Elizabeth ^ax   Ren, Clement ^ax   Retsch Bogart, George ^ax   Rock, Michael ^ax   Rosen, Antony ^ax   Rosenfeld, Margaret ^ax   Ruczinski, Ingo ^ax   Sanford, Andrew ^ax   Schaeffer, David ^ax   Sell, Cindy ^ax   Sheehan, Daniel ^ax   Silverman, Edwin K ^ax   Sin, Don ^ax   Spencer, Terry ^ax   Stonebraker, Jackie ^ax   Tabor, Holly K ^ax   Varlotta, Laurie ^ax   Vergara, Candelaria I ^ax   Weiss, Robert ^ax   Wigley, Fred ^ax   Wise, Robert A ^ax   Wright, Fred A ^ax   Wurfel, Mark M ^ax   Zanni, Robert ^ax   Zou, Fei ^ax   Green, Phil ^ax   Shendure, Jay ^ax   Akey, Joshua M ^ax   Bustamante, Carlos D ^ax   Eichler, Evan E ^ax   Fox, P Keolu ^ax   Fu, Wenqing ^ax   Gordon, Adam ^ax   Gravel, Simon ^ax   Johnsen, Jill M ^ax   Kan, Mengyuan ^ax   Kenny, Eimear E ^ax   Kidd, Jeffrey M ^ax   Lara Garduno, Fremiet ^ax   Leal, Suzanne M ^ax   Liu, Dajiang J ^ax   McGee, Sean ^ax   O’connor, Timothy D ^ax   Paeper, Bryan ^ax   Robertson, Peggy D ^ax   Staples, Jeffrey C ^ax   Tennessen, Jacob A ^ax   Wang, Gao ^ax   Yi, Qian ^ax   Anderson, Garnet ^ax   Anton Culver, Hoda ^ax   Auer, Paul L ^ax   Beresford, Shirley ^ax   Black, Henry ^ax   Brunner, Robert ^ax   Brzyski, Robert ^ax   Burwen, Dale ^ax   Caan, Bette ^ax   Carty, Cara L ^ax   Chlebowski, Rowan ^ax   Cummings, Steven ^ax   Curb, J David ^ax   Eaton, Charles B ^ax   Ford, Leslie ^ax   Fullerton, Stephanie M ^ax   Gass, Margery ^ax   Geller, Nancy ^ax   Heiss, Gerardo ^ax   Howard, Barbara V ^ax   Hsu, Li ^ax   Hutter, Carolyn M ^ax   Ioannidis, John ^ax   Johnson, Karen C ^ax   Kuller, Lewis ^ax   Lacroix, Andrea ^ax   Lakshminarayan, Kamakshi ^ax   Lane, Dorothy ^ax   Lasser, Norman ^ax   Leblanc, Erin ^ax   Limacher, Marian ^ax   Logsdon, Benjamin A ^ax   Ludlam, Shari ^ax   Manson, Joann E ^ax   Margolis, Karen ^ax   McGowan, Joan ^ax   Monda, Keri L ^ax   Kotchen, Jane Morley ^ax   Nathan, Lauren ^ax   Ockene, Judith ^ax   O’sullivan, Mary Jo ^ax   Phillips, Lawrence S ^ax   Prentice, Ross L ^ax   Robbins, John ^ax   Rossouw, Jacques E ^ax   Sangi Haghpeykar, Haleh ^ax   Sarto, Gloria E ^ax   Shumaker, Sally ^ax   Simon, Michael S ^ax   Stefanick, Marcia L ^ax   Stein, Evan ^ax   Tang, Hua ^ax   Taylor, Kira C ^ax   Thomson, Cynthia A ^ax   Thornton, Timothy A ^ax   Van Horn, Linda ^ax   Vitolins, Mara ^ax   Wactawski Wende, Jean ^ax   Wallace, Robert ^ax   Wassertheil Smoller, Sylvia ^ax   Zeng, Donglin ^ax   Applebaum Bowden, Deborah ^ax   Feolo, Michael ^ax   Gan, Weiniu ^ax   Paltoo, Dina N ^ax   Sholinsky, Phyliss ^ax   Sturcke, Anne ^ax   more..

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^d IL   (United States)

^e Renaissance Computing Institute   (United States)

^f UNIVERSITY OF WASHINGTON   (United States)

^g MASSACHUSETTS GENERAL HOSPITAL   (United States)

^h BROAD INSTITUTE OF MIT AND HARVARD   (United States)

ⁱ Fred Hutchinson Cancer Research Center   (United States)

^j UNIVERSITY OF WISCONSIN MILWAUKEE   (United States)

^k UNIVERSITY OF OXFORD   (United Kingdom)

^l HARVARD MEDICAL SCHOOL   (United States)

^m NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

ⁿ MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^o Brooks Computer Science Building   (United States)

^p UNIVERSITY OF VERMONT   (United States)

^q ERASMUS MEDICAL CENTER   (Netherlands)

^r UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^s UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^t ICELANDIC HEART ASSOCIATION   (Iceland)

^u UNIVERSITY OF ICELAND   (Iceland)

^v UNIVERSITY OF MINNESOTA   (United States)

^w WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^x UNIVERSITY OF EDINBURGH   (United Kingdom)

^y UNIVERSITY OF TEXAS   (United States)

^z UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^aa GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^ab UNIVERSITY OF IOWA   (United States)

^ac STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^ad UNIVERSITY OF AUCKLAND   (New Zealand)

^ae OHIO STATE UNIVERSITY   (United States)

^af NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^ag HARBOR UCLA MEDICAL CENTER   (United States)

^ah TOUGALOO COLLEGE   (United States)

^ai JACKSON STATE UNIVERSITY   (United States)

^aj UNIVERSITY OF WASHINGTON MEDICAL CENTER   (United States)

^ak UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^al UNIVERSITY OF EDINBURGH   (United Kingdom)

^am LUND UNIVERSITY   (Sweden)

^an GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

^ao UNIVERSITY OF OXFORD   (United Kingdom)

^ap INSTITUTE OF EPIDEMIOLOGY   (Germany)

^aq TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^ar BAYLOR COLLEGE OF MEDICINE   (United States)

^as HOUSTON METHODIST RESEARCH INSTITUTE   (United States)

^at JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^au CENTER FOR HEALTH STUDIES   (United States)

^av BOSTON UNIVERSITY SCHOOL OF PUBLIC HEALTH   (United States)

^aw UNIVERSITY OF VIRGINIA   (United States)

^ax NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; APOLIPOPROTEIN E; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ARTICLE; CHOLESTEROL BLOOD LEVEL; DYSLIPIDEMIA; ETHNICITY; EXOME; FOLLOW UP; GENE; GENE FREQUENCY; GENE REPLICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; LDLR GENE; MAJOR CLINICAL STUDY; MAXIMUM LIKELIHOOD METHOD; NONALCOHOLIC FATTY LIVER; NUCLEOTIDE SEQUENCE; PCSK 9 GENE; PNPLA 5 GENE; PRIORITY JOURNAL; RACE DIFFERENCE;

ADULT; AGED; APOLIPOPROTEINS E; CHOLESTEROL, LDL; COHORT STUDIES; DYSLIPIDEMIAS; EXOME; FEMALE; FOLLOW-UP STUDIES; GENE FREQUENCY; GENETIC CODE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; LIPASE; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROPROTEIN CONVERTASES; RECEPTORS, LDL; SEQUENCE ANALYSIS, DNA; SERINE ENDOPEPTIDASES;

EID: 84893720400     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.01.010     Document Type: Article

References (41)

1. V.L. Roger, A.S. Go, D.M. Lloyd-Jones, E.J. Benjamin, J.D. Berry, W.B. Borden, D.M. Bravata, S. Dai, E.S. Ford, C.S. Fox American Heart Association Statistics Committee and Stroke Statistics Subcommittee Heart disease and stroke statistics - 2012 update: a report from the American Heart Association Circulation 125 2012 e2 e220
2. G. Pilia, W.M. Chen, A. Scuteri, M. Orrú, G. Albai, M. Dei, S. Lai, G. Usala, M. Lai, and P. Loi et al. Heritability of cardiovascular and personality traits in 6,148 Sardinians PLoS Genet. 2 2006 e132
3. S.V. de Miranda Chagas, S. Kanaan, H. Chung Kang, M. Cagy, R.E. de Abreu, L.A. da Silva, R.C. Garcia, and M.L. Garcia Rosa Environmental factors, familial aggregation and heritability of total cholesterol, low density lipoprotein-cholesterol and high density lipoprotein-cholesterol in a Brazilian population assisted by the Family Doctor Program Public Health 125 2011 329 337
4. A.R. Rahalkar, and R.A. Hegele Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum Mol. Genet. Metab. 93 2008 282 294 (Pubitemid 351193130)
5. K. Musunuru, J.P. Pirruccello, R. Do, G.M. Peloso, C. Guiducci, C. Sougnez, K.V. Garimella, S. Fisher, J. Abreu, and A.J. Barry et al. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia N. Engl. J. Med. 363 2010 2220 2227
6. M.S. Brown, and J.L. Goldstein A receptor-mediated pathway for cholesterol homeostasis Science 232 1986 34 47 (Pubitemid 16037973)
7. J. Cohen, A. Pertsemlidis, I.K. Kotowski, R. Graham, C.K. Garcia, and H.H. Hobbs Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9 Nat. Genet. 37 2005 161 165
8. J.C. Cohen, A. Pertsemlidis, S. Fahmi, S. Esmail, G.L. Vega, S.M. Grundy, and H.H. Hobbs Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels Proc. Natl. Acad. Sci. USA 103 2006 1810 1815 (Pubitemid 43228775)
9. T.M. Teslovich, K. Musunuru, A.V. Smith, A.C. Edmondson, I.M. Stylianou, M. Koseki, J.P. Pirruccello, S. Ripatti, D.I. Chasman, and C.J. Willer et al. Biological, clinical and population relevance of 95 loci for blood lipids Nature 466 2010 707 713
10. J.A. Tennessen, A.W. Bigham, T.D. O'Connor, W. Fu, E.E. Kenny, S. Gravel, S. McGee, R. Do, X. Liu, G. Jun Broad GO Seattle GO NHLBI Exome Sequencing Project Evolution and functional impact of rare coding variation from deep sequencing of human exomes Science 337 2012 64 69
11. The Atherosclerosis Risk in Communities (ARIC) Study: design and objectives. The ARIC investigators Am. J. Epidemiol. 129 1989 687 702
12. G.D. Friedman, G.R. Cutter, R.P. Donahue, G.H. Hughes, S.B. Hulley, D.R. Jacobs Jr., K. Liu, and P.J. Savage CARDIA: study design, recruitment, and some characteristics of the examined subjects J. Clin. Epidemiol. 41 1988 1105 1116 (Pubitemid 19039041)
13. L.P. Fried, N.O. Borhani, P. Enright, C.D. Furberg, J.M. Gardin, R.A. Kronmal, L.H. Kuller, T.A. Manolio, M.B. Mittelmark, and A. Newman et al. The Cardiovascular Health Study: design and rationale Ann. Epidemiol. 1 1991 263 276
14. T.R. Dawber, G.F. Meadors, and F.E. Moore Jr. Epidemiological approaches to heart disease: the Framingham Study Am. J. Public Health Nations Health 41 1951 279 281
15. H.A. Taylor Jr., J.G. Wilson, D.W. Jones, D.F. Sarpong, A. Srinivasan, R.J. Garrison, C. Nelson, and S.B. Wyatt Toward resolution of cardiovascular health disparities in African Americans: design and methods of the Jackson Heart Study Ethn. Dis. 15 Suppl 6 2005 S6-4-S6-17
16. D.E. Bild, D.A. Bluemke, G.L. Burke, R. Detrano, A.V. Diez Roux, A.R. Folsom, P. Greenland, D.R. Jacob Jr., R. Kronmal, and K. Liu et al. Multi-ethnic study of atherosclerosis: objectives and design Am. J. Epidemiol. 156 2002 871 881 (Pubitemid 35215769)
17. The Women's Health Initiative Study Group Design of the Women's Health Initiative clinical trial and observational study Control. Clin. Trials 19 1998 61 109
18. W.T. Friedewald, R.I. Levy, and D.S. Fredrickson Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge Clin. Chem. 18 1972 499 502
19. H. Li, and R. Durbin Fast and accurate short read alignment with Burrows-Wheeler transform Bioinformatics 25 2009 1754 1760
20. A. McKenna, M. Hanna, E. Banks, A. Sivachenko, K. Cibulskis, A. Kernytsky, K. Garimella, D. Altshuler, S. Gabriel, M. Daly, and M.A. DePristo The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data Genome Res. 20 2010 1297 1303
21. T. Joachims Making large-scale Support Vector Machine Learning Practical B. Schölkopf, C.J.C. Burges, A.J. Smola, Advances in Kernel Methods: Support Vector Learning 1999 MIT Press Cambridge 169 184
22. H. Li, B. Handsaker, A. Wysoker, T. Fennell, J. Ruan, N. Homer, G. Marth, G. Abecasis, R. Durbin 1000 Genome Project Data Processing Subgroup The Sequence Alignment/Map format and SAMtools Bioinformatics 25 2009 2078 2079
23. M.P. Epstein, W.L. Duren, and M. Boehnke Improved inference of relationship for pairs of individuals Am. J. Hum. Genet. 67 2000 1219 1231
24. S. Purcell, B. Neale, K. Todd-Brown, L. Thomas, M.A. Ferreira, D. Bender, J. Maller, P. Sklar, P.I. de Bakker, M.J. Daly, and P.C. Sham PLINK: a tool set for whole-genome association and population-based linkage analyses Am. J. Hum. Genet. 81 2007 559 575 (Pubitemid 47330214)
25. K. Wang, M. Li, and H. Hakonarson ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Res. 38 2010 e164
26. B. Li, and S.M. Leal Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data Am. J. Hum. Genet. 83 2008 311 321
27. C.J. Willer, Y. Li, and G.R. Abecasis METAL: fast and efficient meta-analysis of genomewide association scans Bioinformatics 26 2010 2190 2191
28. S. Lee, M.J. Emond, M.J. Bamshad, K.C. Barnes, M.J. Rieder, D.A. Nickerson, D.C. Christiani, M.M. Wurfel, X. Lin NHLBI GO Exome Sequencing Project - ESP Lung Project Team Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies Am. J. Hum. Genet. 91 2012 224 237
29. T. Zemunik, M. Boban, G. Lauc, S. Janković, K. Rotim, Z. Vatavuk, G. Bencić, Z. Dogas, V. Boraska, and V. Torlak et al. Genome-wide association study of biochemical traits in Korcula Island, Croatia Croat. Med. J. 50 2009 23 33
30. M. Higgins, M. Province, G. Heiss, J. Eckfeldt, R.C. Ellison, A.R. Folsom, D.C. Rao, J.M. Sprafka, and R. Williams NHLBI Family Heart Study: objectives and design Am. J. Epidemiol. 143 1996 1219 1228 (Pubitemid 26178734)
31. T.B. Harris, L.J. Launer, G. Eiriksdottir, O. Kjartansson, P.V. Jonsson, G. Sigurdsson, G. Thorgeirsson, T. Aspelund, M.E. Garcia, and M.F. Cotch et al. Age, Gene/Environment Susceptibility-Reykjavik Study: multidisciplinary applied phenomics Am. J. Epidemiol. 165 2007 1076 1087 (Pubitemid 46598837)
32. A. Hofman, D.E. Grobbee, P.T. de Jong, and F.A. van den Ouweland Determinants of disease and disability in the elderly: the Rotterdam Elderly Study Eur. J. Epidemiol. 7 1991 403 422
33. W.B. Kannel, T.R. Dawber, A. Kagan, N. Revotskie, and J. Stokes 3rd Factors of risk in the development of coronary heart disease - six year follow-up experience. The Framingham Study Ann. Intern. Med. 55 1961 33 50
34. S. Krokstad, A. Langhammer, K. Hveem, T.L. Holmen, K. Midthjell, T.R. Stene, G. Bratberg, J. Heggland, and J. Holmen Cohort Profile: The HUNT Study, Norway Int. J. Epidemiol. 42 2013 968 977
35. S. Romeo, J. Kozlitina, C. Xing, A. Pertsemlidis, D. Cox, L.A. Pennacchio, E. Boerwinkle, J.C. Cohen, and H.H. Hobbs Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease Nat. Genet. 40 2008 1461 1465
36. J.D. Horton, J.C. Cohen, and H.H. Hobbs PCSK9: a convertase that coordinates LDL catabolism J. Lipid Res. 50 Suppl 2009 S172 S177
37. I.F. Fokkema, J.T. den Dunnen, and P.E. Taschner LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach Hum. Mutat. 26 2005 63 68 (Pubitemid 41040673)
38. I.K. Kotowski, A. Pertsemlidis, A. Luke, R.S. Cooper, G.L. Vega, J.C. Cohen, and H.H. Hobbs A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol Am. J. Hum. Genet. 78 2006 410 422 (Pubitemid 43291224)
39. M.H. Lee, K. Lu, S. Hazard, H. Yu, S. Shulenin, H. Hidaka, H. Kojima, R. Allikmets, N. Sakuma, and R. Pegoraro et al. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption Nat. Genet. 27 2001 79 83 (Pubitemid 32044523)
40. C.J. Willer, E.M. Schmidt, S. Sengupta, G.M. Peloso, S. Gustafsson, S. Kanoni, A. Ganna, J. Chen, M.L. Buchkovich, S. Mora Global Lipids Genetics Consortium Discovery and refinement of loci associated with lipid levels Nat. Genet. 45 2013 1274 1283
41. S.G. Young, S.J. Bertics, L.K. Curtiss, B.W. Dubois, and J.L. Witztum Genetic analysis of a kindred with familial hypobetalipoproteinemia. Evidence for two separate gene defects: one associated with an abnormal apolipoprotein B species, apolipoprotein B-37; and a second associated with low plasma concentrations of apolipoprotein B-100 J. Clin. Invest. 79 1987 1842 1851 (Pubitemid 17117293)