News & Research

By: Tory Asfahani

Michael Boehnke, Cristen Willer

Cristen Willer, PhD, a postdoctoral fellow training in the laboratory of Michael Boehnke, PhD, was lead author on a February 2008 paper published in Nature Genetics. 

The paper reports that Dr. Willer and others identified 11 gene locations involved in the metabolism of fats, including high-density lipoprotein (HDL) cholesterol, low-density lipoprotein (LDL) cholesterol, and triglycerides.  Dr. Willer and her colleagues performed a meta-analysis of three different studies in order to maximize their results.  Using data from 1,874 individuals from the type 2 diabetes FUSION study, 4,184 individuals from the aging-associated SardiNIA study, and 2,758 individuals from the Diabetes Genetics Intiative, as well as 11,569 additional individuals, researchers were able to verify the involvement of several previously suspected genes related to fat metabolism (ABCA1, the APOA5-APOA4-APOC3-APOA1 and APOE-APOC clusters, APOB, CETP, GCKR, LDLR, LPL, LIPC, LIPG and PCSK9), as well as several new gene locations (near MVK-MMAB and GALNT2, near SORT1, near TRIB1, MLXIPL and ANGPTL3, and several genes near NCAN).

Another significant discovery is that the 11 gene locations associated with increased LDL cholesterol were also linked to coronary artery disease.  The authors also note that several of the new gene locations may turn out to be good targets for cholesterol-lowering drugs that can not only improve cholesterol levels but also reduce the risk of cardiovascular disease.  Dr. Willer states, “These results greatly enhanced our understanding of the gene regions that influence lipid levels.  We hope this will eventually translate to better drug therapies for people at risk for cardiovascular disease."