Genome-wide association of early-onset myocardial infarction with common single nucleotide polymorphisms, common copy number variants, and rare copy number variants. Nat Genet 2009;41: 334-341.

Kathiresan S, Voight BF, Purcell S, Musunuru K, et al. PMID: 19198609 (cited by 480). This is among the first published genome-wide association studies for the early-onset myocardial infarction (MI) phenotype.  We demonstrated that common DNA sequence variants at nine gene regions contribute to risk for MI, the leading cause of death in the U.S. … Read more

Polymorphisms associated with cholesterol and risk of cardiovascular events

Kathiresan S, Melander O, Roos C, Guiducci C, Burtt NP, Anevski D, Hirschhorn, JN, Berglund G, Hedblad B, Groop L, Altshuler DM, Newton-Cheh C, Orho-Melander, M. PMID: 18354102 (cited by 400). This study is among the first to empirically validate the concept of a genetic risk score.  We provided proof-of-concept that the additive combination of multiple … Read more

Common variants associated with plasma triglycerides and risk for coronary artery disease

Do R*, Willer CJ, Schmidt EM, Sengupta S, Global Lipids Genetics Consortium, Daly MJ, Neale BM, and Kathiresan S. PMID: 24097064 (cited by 12). Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiological studies, increased triglyceride levels correlate with higher risk for coronary artery disease (CAD). However, it has been hotly debated as to … Read more

Loss-of-function mutations in APOC3, Triglycerides, and Coronary Disease

Crosby J*, Peloso GM,* Auer PL*, TG and HDL Working Group of the Exome Sequencing Project, National, Heart, Lung, and Blood Institute, Reiner AP*, Boerwinkle E*, Kathiresan S*. In a large-scale population-based exome sequencing study for plasma lipids, we discovered that people who carry rare mutations that reduce the production of the APOC3 protein have very low levels … Read more

Inactivating mutations in NPC1L1 and protection from coronary heart disease

Myocardial Infarction Genetics Consortium Investigators, Stitziel NO, Won HH, Morrison AC, Peloso GM, Do R, Lange LA, Fontanillas P, Gupta N, Duga S, Goel A, Farrall M, Saleheen D, Ferrario P, König I, Asselta R, Merlini PA, Marziliano N, Notarangelo MF, Schick U, Auer P, Assimes TL, Reilly M, Wilensky R, Rader DJ, Hovingh GK, … Read more