中国新生儿中2种胆红素代谢酶多态性与生理性胆红素水平的数量性状分析

Quantitative trait analysis of polymorphisms in two bilirubin metabolism enzymes to physiologic bilirubin levels in chinese newborns
作者:Zhou, Y.a, Wang, S.-N.b, Li, H.c, Zha, W.bd, Peng, Q.a, Li, S.a, Chen, Y.c, Jin, L.a
机构: 复旦大学生命科学学院 生物医学研究所
期刊: J PEDIATR-US2014年12月6期165卷

Objective To explore the effects of variants in Uridine Diphosphate Glucuronosyl Transferase 1A1 (UGT1A1) and Heme Oxygenase-1 (HMOX1) on daily physiological bilirubin levels and bilirubin changes during the first week after birth in Chinese newborns. Both UGT1A1 and HMOX1 code rate-limiting enzymes in the bilirubin metabolism pathway. Study design We conducted a retrospective quantitative trait study to analyze 4154 daily bilirubin values, 3129 bilirubin changes, and 11 polymorphisms of 988 newborns during the natural course of physiological hyperbilirubinemia. Results For UGT1A1, we found minor allele A of rs4148323 (G211A, UGT1A1∗6) contributed to higher daily bilirubin levels on days 4-6 (with contributions to variations increasing from 4.8% to 12.3%), minor allele T of rs887829 (c-364t) contributed to lower daily bilirubin levels for days 6 and 7 (with contributions to variations increasing from 7.0% to 10.2%) (P <.03 for all). In addition, minor alleles of rs887829 and (TA)n repeat (UGT1A1∗28), and haplotype T-long-G at rs887829-(TA)n-rs4148323 were associated with a decrease in bilirubin levels from day 5 to day 6 (P <.01 for all). No contribution from HMOX1 was found. Conclusion Bilirubin levels and changes during the middle and late parts of the first week were attributed to variants and haplotypes in UGT1A1. This quantitative trait study may provide a more robust statistical method for determining the association of genetic factors and bilirubin kinetics to predict the development of neonatal bilirubin in early postnatal life.

通讯作者: Institutes of Biomedical Sciences, School of Life Sciences, Fudan University, 220 Handan RdShanghai, China
学科代码:儿科学   关键词:中国新生儿;2种胆红素;代谢酶多态性;生理性胆红素; ,中国作者重要发表 爱思唯尔医学网, Elseviermed
来源: Scopus
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