Kaplan M, Wong R J, Stevenson D K
Faculty of Medicine, Hebrew University, Jerusalem, Israel.
Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
J Perinatol. 2017 Aug;37(8):901-905. doi: 10.1038/jp.2017.6. Epub 2017 Feb 16.
The role of genetic factors in the modulation of serum bilirubin levels and the pathophysiology of neonatal hyperbilirubinemia is being increasingly recognized. Heme oxygenase-1 (HO-1) is the rate-limiting enzyme by which heme is catabolized to biliverdin and thence to bilirubin, with the simultaneous release of equimolar quantities of ferrous iron (Fe) and carbon monoxide. Polymorphisms of the HO-1 gene promoter may modulate transcriptional activity, thereby augmenting or attenuating HO-1 expression with resultant modulation of the production of bilirubin. Few studies have related these polymorphisms to neonatal bilirubin metabolism and have reported conflicting results. In this clinical review, we surveyed the role of HO-1 gene promoter polymorphisms in the control of bilirubin production and further considered their role, if any, in the pathophysiology of neonatal hyperbilirubinemia.
遗传因素在调节血清胆红素水平及新生儿高胆红素血症病理生理学中的作用日益受到认可。血红素加氧酶-1（HO-1）是血红素分解代谢为胆绿素进而生成胆红素的限速酶，同时释放等摩尔量的亚铁离子（Fe）和一氧化碳。HO-1基因启动子的多态性可能调节转录活性，从而增强或减弱HO-1表达，进而调节胆红素的生成。很少有研究将这些多态性与新生儿胆红素代谢相关联，且报道的结果相互矛盾。在这篇临床综述中，我们探讨了HO-1基因启动子多态性在控制胆红素生成中的作用，并进一步考虑了它们在新生儿高胆红素血症病理生理学中的作用（若有）。
