Lammert F, Hochrath K
Department of Medicine II, Saarland University Medical Center, 66421 Homburg, Germany; Department of Medicine, University of California, San Diego, La Jolla, California, USA.
Department of Medicine, University of California, San Diego, La Jolla, California, USA.
Clin Res Hepatol Gastroenterol. 2015 Dec;39(6):655-8. doi: 10.1016/j.clinre.2015.08.004. Epub 2015 Sep 26.
Large-scale whole-genome sequencing of the Icelandic population identified an association between several mutations of ABCB4 encoding the hepatobiliary phosphatiylcholine floppase with liver diseases and function in the general population. Whereas rare mutations of this transporter were known to cause progressive familial intrahepatic cholestasis, the genome-wide association studies in Iceland find the common ABCB4 variant c.711A>T to be a general risk factor for elevated aminotransferases and higher impact variants to be potential determinants of early-onset gallstone disease, cholestasis of pregnancy, liver cirrhosis, and hepatobiliary cancer.
对冰岛人群进行的大规模全基因组测序发现，编码肝胆磷脂酰胆碱翻转酶的ABCB4的几种突变与普通人群的肝脏疾病及功能之间存在关联。虽然已知该转运蛋白的罕见突变会导致进行性家族性肝内胆汁淤积症，但冰岛的全基因组关联研究发现，常见的ABCB4变体c.711A>T是转氨酶升高的一般风险因素，而影响更大的变体则是早发性胆结石疾病、妊娠期胆汁淤积症、肝硬化和肝胆癌的潜在决定因素。
