UDP-Glucuronosyl Transferase 1A1 (UGT1A1) Gene Polymorphism in Neonatal Hyperbilirubinemia-a Preliminary Report

Background and objective: UDP-glucuronosyl transferase 1A1 (UGT1A1) is the key enzyme for bilirubin conjugation. The variations of the UGT1A1 gene have been reported to reduce enzyme activity and be a risk factor for neonatal hyperbilirubinemia. The aim of this study is to investigate the relationship between gene variation and neonatal hyperbilirubinemia. Also, the accuracy of denaturing high-performance liquid chromatography (DHPLC) is evaluated. Methods: This was a prospective population study. Cord blood of full-term newborns was prospectively collected for gene analysis. Variations of the UGT1A1 gene promoter and exon1 were analyzed by DHPLC and direct sequencing. Hyperbilirubinemia was defined as bilirubin≥15 mg/dL. Results: Neonates with variation of nucleotide 211 (c.211G＞A) of the UGT1A1 gene had higher bilirubin levels at 72 hours and higher peak levels within 7 days compared to those with promoter variation and the normal controls. The incidence of hyperbilirubinemia was also higher but not statistically significant (p=0.058). Among 30 neonates with hyperbilirubinemia, frequencies of different genetic polymorphism were analyzed. The odds ratios in neonates who carry c.211G＞A and promoter polymorphism were 2.4 (95% CI: 0.988-5.7; p=0.053) and 1.2 (95% CI: 0.3-4.0; p=0.25), respectively. In addition, DHPLC sensitivity and specificity reached 100%. Conclusion: We confirmed that c.211G＞A in the UGT1A1 gene was a possible risk factor for the development of neonatal hyperbilirubinemia. However, the influences need further evaluation by conducting a larger population study. In addition, DHPLC is indeed a powerful and rapid tool for detecting UGT1A1 gene polymorphism.

並列關鍵字

neonatal hyperbilirubinemia ； UGT1A1 gene ； DHPLC

國際替代計量

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