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Newly identified loci that influence lipid concentrations and risk of coronary artery disease

Summary: Newly identified loci that influence lipid concentrations
and risk of coronary artery disease
Cristen J Willer1,18, Serena Sanna1,2,18, Anne U Jackson1, Angelo Scuteri3,4, Lori L Bonnycastle5,
Robert Clarke6, Simon C Heath7, Nicholas J Timpson8, Samer S Najjar3, Heather M Stringham1, James Strait3,
William L Duren1, Andrea Maschio2, Fabio Busonero2, Antonella Mulas2, Giuseppe Albai2, Amy J Swift5,
Mario A Morken5, Narisu Narisu5, Derrick Bennett6, Sarah Parish6, Haiqing Shen9, Pilar Galan10,
Pierre Meneton11, Serge Hercberg11, Diana Zelenika7, Wei-Min Chen1, Yun Li1, Laura J Scott1, Paul A Scheet1,
Jouko Sundvall12, Richard M Watanabe13,14, Ramaiah Nagaraja3, Shah Ebrahim15, Debbie A Lawlor8,
Yoav Ben-Shlomo8, George Davey-Smith8, Alan R Shuldiner9, Rory Collins6, Richard N Bergman13,
Manuela Uda2, Jaakko Tuomilehto16, Antonio Cao2, Francis S Collins5, Edward Lakatta3, G Mark Lathrop7,
Michael Boehnke1, David Schlessinger3, Karen L Mohlke17 & Gonc¸alo R Abecasis1
To identify genetic variants influencing plasma lipid concentrations, we first used genotype imputation and meta-analysis to
combine three genome-wide scans totaling 8,816 individuals and comprising 6,068 individuals specific to our study (1,874
individuals from the FUSION study of type 2 diabetes and 4,184 individuals from the SardiNIA study of aging-associated
variables) and 2,758 individuals from the Diabetes Genetics Initiative, reported in a companion study in this issue. We
subsequently examined promising signals in 11,569 additional individuals. Overall, we identify strongly associated variants in
eleven loci previously implicated in lipid metabolism (ABCA1, the APOA5-APOA4-APOC3-APOA1 and APOE-APOC clusters,
APOB, CETP, GCKR, LDLR, LPL, LIPC, LIPG and PCSK9) and also in several newly identified loci (near MVK-MMAB and
GALNT2, with variants primarily associated with high-density lipoprotein (HDL) cholesterol; near SORT1, with variants primarily
associated with low-density lipoprotein (LDL) cholesterol; near TRIB1, MLXIPL and ANGPTL3, with variants primarily associated


Source: Abecasis, Goncalo - Department of Biostatistics, University of Michigan


Collections: Biology and Medicine; Mathematics