UGT1A1 Gene Polymorphism Among Term And Late Pre-term Infants In Chongqing China

Aim: To investigte the distribution of UGT1A1(Uridine diphosphate glucuronosyltransferase enzyme 1A1)gene polymorphism in general term and late pre-term infants of Chongqing China,as well as the risk for developing neonatal hyperbilirubinemia associated with UGT1A1 211G>A mutation.Method: A prospective study was carried out among 219 term and late pre-term infants born in the obstetric ward of Chongqing area.the cord blood samples were obtained to detect the UGT1A1 gene polymorphism(including the promoter region and exon 1 sequence),and these infants were divided into two groups according to their UGT1A1 211G>A genotypes: 147 in wild group and 72 in mutant group.the subsequent transcutaneous bilirubin(TCB)levels within 1-3 days,4-7 days,neonatal hyperbilirubinemia incidence of these infants were tested as well as their phototherapy risk,and the logistic regression models were also employed to analyze the relationship between UGT1A1 211G>A mutation and the TCB levels,phototherapy risk of term and late pre-term infants.Result: The total mutation incidence,homozygous mutation rate and heterozygous mutation rate of 211G>A were 32.9%,3.7%,and 29.2%.the incidences of the infants with high-risk TCB levels within 1-3 days,4-7 days,and the phototherapy rate were 19.0%,20.4%,9.5%,respectively,in the wild group,whereas 51.4%,50.0%,20.8%,respectively,in the mutant group.The total 211G>A mutation incidences in hyperbilirubinemic infants and non-hyperbilirubinemic infants were 51.7%,30.0%.Logistic regression indicated,the OR(95%CI)of 211G>A mutation associated with high-risk TCB levels within 1-3 days,4-7 days and phototherapy risk were 4.49(2.42-8.34),4.36(2.36-8.04),2.80(1.16-6.76),respectively,and 2.80(1.16-6.76)for the incidence of neonatal hyperbilirubinemia in term and late pre-term infants of Chongqing China.Conclusion: UGT1A1 211G>A mutation was quite pop?lar among both term and late pre-term infants of Chongqing China,and was probably involved in the development of neonatal hyperbilirubinemia.