Association between the Specific UGT1A1 Promoter Sequence Variant (c-3279T>G) and Unconjugated Neonatal Hyperbilirubinemia.

ABSTRACT

We investigated the association between c-3279T>G and unconjugated neonatal hyperbilirubinemia. In all, 141 neonates were recruited; 63 had hyperbilirubinemia necessitating treatment, and 78 with bilirubin < 7 mg/dl served as the control group. The frequency of occurrence of c-3279T > G allele was significantly higher in the hyperbilirubinemic (49.2%) than in the control group (25.6%). The homozygous (p = 0.001, OR = 17.7 and CI = 3.9-79.3) rather than the heterozygous state (p = 0.3, OR = 0.7 and CI = 0.3-1.6) was associated with hyperbilirubinemia. Among the hyperbilirubinemic group, comparison between the three genotypes, homozygous mutation, heterozygous mutation and the normal allele, revealed that the former was associated with significantly higher mean peak total serum bilirubin [mean ± standard deviation (SD) 33.7 ± 8.2, 26.9 ± 2.8 and 21± 2.7, respectively, p-value = 0.0001], higher bilirubin/albumin ratio (p = 0.000) and a longer duration of hospital stay (p = 0.001). Homozygous c-3279T > G mutation represents an important risk factor for the development of neonatal hyperbilirubinemia.