新生儿高胆红素血症与基因多态性研究进展

Research advances in neonatal hyperbilirubinemia and gene polymorphisms

摘要:

高胆红素血症是一种新生儿普遍存在的疾病，也是新生儿生后第1周住院的主要原因，该病主要由胆红素产生与消除的不平衡所致。尿苷二磷酸葡萄糖醛酸转移酶1、有机阴离子转运载体2、血红素氧合酶1及胆绿素还原酶A在胆红素代谢过程中扮演至关重要的角色。这些酶的编码基因突变与高胆红素血症的关系越来越多地被认识。该文就常见胆红素代谢酶的基因多态性与高胆红素血症的相关研究进展进行总结。

Abstract:

Hyperbilirubinemia is a prevalent disease in neonates and is also a main reason for hospitalization within the first week after birth, and this disease is mainly caused by the imbalance between production and elimination of bilirubin. Uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1), organic anion transporter polypeptide 2 (OATP2), heme oxygenase 1 (HO-1), and biliverdin reductase A (BLVRA) play crucial roles in the metabolism of bilirubin. More and more studies have revealed the association between the variation of the encoding genes for these enzymes and hyperbilirubinemia. This article reviews the research advances in the association between the gene polymorphisms of bilirubin metabolic enzymes and hyperbilirubinemia.