Division of Newborn Medicine, Department of Pediatrics, Magee-Women's Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
Semin Fetal Neonatal Med. 2010 Jun;15(3):169-75. doi: 10.1016/j.siny.2009.11.003. Epub 2009 Dec 21.
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.
遗传变异在调节新生儿高胆红素血症风险方面的作用正逐渐被认识到。特别是，在胆红素生成和代谢相关的三个基因（葡萄糖-6-磷酸脱氢酶（G6PD）、尿苷二磷酸葡萄糖醛酸转移酶 1A1（UGT1A1）和溶质载体有机阴离子转运多肽 1B1（SLCO1B1））中存在的多态性可能相互作用，并与环境因素共同作用，导致显著的高胆红素血症。变异基因的共表达，包括复合和协同杂合性，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。
