Exploring the genetic architecture of neonatal hyperbilirubinemia
Exploring the genetic architecture of neonatal hyperbilirubinemia
复制标题
DOI：
10.1016/j.siny.2009.11.003
复制
发表时间：
2010-06-01
影响因子：
3
通讯作者：
Lin, Zhili
中科院分区：
文献类型：
--
作者：
Watchko, Jon F.;Lin, Zhili
遗传变异调节新生儿高胆红素血症风险的潜力正日益被认识到。特别是，涉及胆红素产生和代谢的三种基因[葡萄糖-6-磷酸脱氢酶（G6 PD）、尿苷二磷酸葡萄糖醛酸转移酶1A 1（UGT 1A 1）和溶质载体有机阴离子转运蛋白多肽1B 1（SLCO 1B 1）]的多态性可能相互作用和/或与环境因素相互作用，产生显著的高胆红素血症。包括复合和协同杂合性在内的变异基因共表达增加了高胆红素血症的风险，导致新生儿黄疸的病因异质性和复杂性。(C)2009爱思唯尔有限公司保留所有权利。
The potential for genetic variation to modulate neonatal hyperbilirubinemia risk is increasingly being recognized. In particular, polymorphisms across three genes involved in bilirubin production and metabolism [glucose-6-phosphate dehydrogenase (G6PD), uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1), and solute carrier organic anion transporter polypeptide 1B1 (SLCO1B1)] may interact with each other and/or environmental contributors to produce significant hyperbilirubinemia. Variant gene co-expression including compound and synergistic heterozygosity enhances hyperbilirubinemia risk, contributing to the etiologic heterogeneity and complex nature of neonatal jaundice. (C) 2009 Elsevier Ltd. All rights reserved.