ABCMdb

PMID: 19060906

Kathiresan S, Willer CJ, Peloso GM, Demissie S, Musunuru K, Schadt EE, Kaplan L, Bennett D, Li Y, Tanaka T, Voight BF, Bonnycastle LL, Jackson AU, Crawford G, Surti A, Guiducci C, Burtt NP, Parish S, Clarke R, Zelenika D, Kubalanza KA, Morken MA, Scott LJ, Stringham HM, Galan P, Swift AJ, Kuusisto J, Bergman RN, Sundvall J, Laakso M, Ferrucci L, Scheet P, Sanna S, Uda M, Yang Q, Lunetta KL, Dupuis J, de Bakker PI, O'Donnell CJ, Chambers JC, Kooner JS, Hercberg S, Meneton P, Lakatta EG, Scuteri A, Schlessing
Common variants at 30 loci contribute to polygenic dyslipidemia.
Nat Genet. 2009 Jan;41(1):56-65. Epub 2008 Dec 7., [PubMed]

Sentences

No. Mutations Sentence Comment

85 ABCG8 p.Asp19His ABCG8 p.Asp19His For example, we found the previously studied ABCG8 D19H variant to be associated with LDL cholesterol (rs11887534, P ¼ 1 Â 10À11) and found an even stronger common variant signal, a SNP in intron 2 of ABCG8 (rs6544713, 0.15 s.d. unit change per copy, P ¼ 2 Â 10À29; r2 ¼ 0.02 with ABCG8 D19H). Login to comment 86 ABCG8 p.Asp19His Both D19H and a proxy for ABCG8 rs6544713 (rs4299376, r2 ¼ 1) were recently shown to affect risk for cholesterol gallstone disease30; for both the coding and intronic variants, the allele corresponding to lower plasma LDL cholesterol in the present study has been associated with higher risk of gallstones. Login to comment