Association Of UGT1A1 Gene G71R Polymorphism With Severe Neonatal Hyperbilirubinemia

Objective To explore the association between the G71 R polymorphism of the UGT1A1 gene and severe neonatal hyperbilirubinemia.Method 52 newborns with severe hyperbilirubinemia treated in the neonatal department of my hospital from January 2017 to June 2020 were selected as the case group,and 48 newborns without jaundice or whose bilirubin level did not meet the diagnostic criteria of neonatal hyperbilirubinemia were selected as the control group.With the informed consent of their families,all subjects took 2ml of peripheral venous blood,extracted genomic DNA,amplified the target gene by PCR,and sequenced and analyzed the mutation.For data analysis,SPSS 24.0 was applied.The gene frequency of the G71 R mutation in the UGT1A1 gene was evaluated between the two groups using the Chi-square test,and the serum total bilirubin levels of children with different genotypes of UGT1A1 gene G71 R locus in the case group were observed.Result There was no significant difference in gender,gestational age,birth weight,postpartum age,diet,or mode of production between the two groups(P>0.05).In the case group,there were 15 cases of wild type(G/G),20 cases of heterozygous mutation(A/G),and 17 cases of homozygous mutation(A/A).The heterozygous mutation rate was 38.46%,and the homozygous mutation rate was 32.69%.In the control group,there were 8 cases of wild type(G/G),25 cases of heterozygous mutation(A/G),and 15 cases of homozygous mutation(A/A).The heterozygous mutation rate was 52.08%,and the homozygous mutation rate was 31.25%.The chi-square test value of the UGT1A1 gene G71 R mutation compared with wild type was 2.09,and there was no substantial distinction(P>0.05).The frequency of allele A in the case group was 51.9%,and that in the control group was 57.3%.The chi-square test value was 0.58,and the difference was not statistically significant(P>0.05).The serum total bilirubin levels of 52 neonates with the G71 R homozygous mutation,heterozygous mutation,and wild-type newborns of the UGT1A1 gene were measured as(396.46±54.16)μmol/L,(374.99±30.95)μmol/L and(383.11±48.17)μmol/L,one way ANOVA was used to compare the bilirubin levels of children with severe neonatal hyperbilirubinemia.There were obvious differences in bilirubin levels among children with different genotypes in the case group(P<0.05).Conclusion The results of this study suggest that the G71 R polymorphism of the UGT1A1 gene may not be significantly correlated with the prevalence of severe neonatal hyperbilirubinemia.