有机阴离子转运体1B1基因与新生儿黄疸关系的研究进展

Research progress on the relationship between SLCO1B1 gene and neonatal jaundice

摘要:

有机阴离子转运体2(OATP2)是一种肝细胞膜上转运胆红素等物质的转运体,影响胆红素的代谢.OATP2 由有机阴离子转运体1B1(SLCO1B1)基因编码,该基因突变可抑制OATP2 的转运功能,致胆红素清除减慢,引起高胆红素血症.近年的研究显示,SLCO1B1 基因多态性可能与新生儿黄疸发生相关.该文综述了SLCO1B1 基因结构、功能及SLCO1B1 基因突变与新生儿黄疸的关系.

Abstract:

Organic anion transporter 2 (OATP2) is an uptake transporter located on the basolateral membrane of human hepatocytes. It mediates the transportation of various organic solutes including bilirubin and impacts bilirubinm etabolism. It is encoded by the gene of solute carrier organic anion transporter family member 1B1 and the genevariants that inhibit hepatic bilirubin uptake function may reduce the normal functional level of bilirubin eliminationand result in neonatal hyperbilirubinemia. In recent years, some studies have indicated that variants of SLCO1B1 areassociated with neonatal jaundice. This article reviews the research advance in SLCO1B1 with respect to the structureand function and the relationship between SLCO1B1 mutations and neonatal jaundice.