Department of Gastroenterology and Hepatology, Karolinska Institutet, Karolinska University Hospital at Huddinge, S-14186 Stockholm, Sweden.
Biochem Biophys Res Commun. 2010 May 21;396(1):58-62. doi: 10.1016/j.bbrc.2010.02.143.
Gallstone disease is one of the most prevalent gastrointestinal diseases with a substantial burden to health care systems that is expected to increase in ageing populations at risk. This review summarizes recent data on the genetic background of cholesterol gallstones and the role of biliary lipid composition. Three previously unknown non-synonymous mutations in the ABCB4 gene encoding the hepatobiliary phospholipid-flippase MDR3 are presented.
胆石病是最常见的胃肠道疾病之一，给医疗保健系统带来了巨大负担，预计在面临风险的老年人口中这种负担还会增加。这篇综述总结了胆固醇胆石症遗传背景和胆汁脂质组成作用的最新数据。介绍了编码肝胆汁磷脂翻转酶 MDR3 的 ABCB4 基因中的三个以前未知的非同义突变。
