ABCMdb

PMID: 23179156

Yoon JH, Choi HS, Jun DW, Yoo KS, Lee J, Yang SY, Kuver R
ATP-binding cassette sterol transporters are differentially expressed in normal and diseased human gallbladder.
Dig Dis Sci. 2013 Feb;58(2):431-9. doi: 10.1007/s10620-012-2481-0. Epub 2012 Nov 22., [PubMed]

Sentences

No. Mutations Sentence Comment

106 ABCG8 p.Asp19His ABCG8 p.Asp19His Buch et al. showed that the ABCG8 gene carrying a single nucleotide polymorphism, A-1791411, encoded the variant rs11887534 (D19H), and that there was a correlation between presence of ABCG8 D19H and cholesterol gallstones in Germans and Chileans after adjusting for BMI, gender, and age [21]. Login to comment 111 ABCG8 p.Asp19His *P \ 0.05. Lane 1 Normal gallbladder, lanes 2, 3 gallbladder with cholesterol polyps, lanes 4, 5 gallbladder with cholesterol gallstones and cholecystitis, lanes 6, 7 gallbladder with cholesterolosis (D19H) through thorough transcript mapping, mutation detection, and association analysis in ethnically different populations as the likely causative variant for gallstone susceptibility [22]. Login to comment 112 ABCG5 p.Gln604Glu ABCG8 p.Asp19His Other studies have identified a variety of polymorphisms in ABCG8 (A632 V, T400 K, D19H, and C54Y) and in ABCG5 (Q604E) that have been linked to baseline plasma cholesterol levels, cholesterol absorption, or responsiveness to dietary intervention [23-25]. Login to comment 113 ABCG8 p.Asp19His ABCA1 p.Cys54Tyr In addition, some genetic variations in the ABCG8 gene (D19H and T400 K) may increase the risk of gallstone disease in certain populations [26]. Login to comment