TM6SF2rs58542926E167K单核苷酸多态性与肝硬化、
肝细胞癌易感性的关系
邴浩;沈剑华;李异玲
【期刊名称】《胃肠病学和肝病学杂志》 【年(卷),期】2017(026)004
【摘要】The transmembrane 6 superfamily member 2 (TM6SF2) is located on chromosome 19,mainly expressed in the intestine and liver,involved in lipid metabolism.The genic mutation of rs58542926 decreases the protein expression.Studies show that TM6SF2 rs58542926 E167K single nucleotide polymorphisms are associated with levels of liver fat,plasma liver enzyme levels and fibrosis severity,which are independent risk factors for nonalcoholic fatty liver disease (NAFLD).Recent studies find that TM6SF2 rs58542926 E167K single nucleotide polymorphisms are also associated with liver cirrhosis and hepatocellular carcinoma.%跨膜蛋白6超家族成员2(transmembrane 6 superfamily member 2,TM6 SF2)位于第19号染色体上,主要表达于小肠及肝脏,参与脂质的调控.rs58542926处基因突变致其编码的蛋白表达降低.研究显示,TM6SF2 rs58542926 E167K单核苷酸多态性与肝内脂质含量、血清肝酶含量及肝纤维化均有相关性,是非酒精性脂肪性肝病(non-alcoholic fatty liver disease,NAFLD)的独立危险因素.最近研究发现,TM6SF2 rs58542926 E167K单核苷酸多态性与肝硬化及肝细胞癌也具有一定相关性. 【总页数】3页(369-371)
TM6SF2rs58542926E167K单核苷酸多态性与肝硬化、肝细胞癌易感性的关系
