Abstract
Background and aims: Polymorphisms of UGT1A1 gene may contribute to neonatal hyperbilirubinemia (NNH). This study analyzes the role of seven variants of UGT1A1 gene and certain clinical risk factors in NNH.
Methods: This was a prospective case control study which included 247 cases. (serum bilirubin ≥15 mg/dl) and 278 control (serum bilirubin< 15 mg/dl) newborns in the first 2 weeks of age from central India. Both term and preterm neonates were studied. Genomic DNA was subjected to PCR-RFLP, SSCP and DNA sequencing to find out UGT1A1 gene variants.
Results: UGT1A1 -3297 G >T variant was found in 44(17.8%) cases and 22(7.9%) controls (OR 2.5; 95% CI 1.46-4.34). CAT box insertion (CAT)1 →
(CAT)2 was seen in 5(2.1%) cases and 1(0.4) control (OR 5.7; 95% CI 0.6-49.3). TATA box variant (TA)6→(TA)7 was detected in151 (61.2%) cases and 141 (50.7%) controls (OR1.42;95% CI 1.06-2.13). 211G>A variant was seen in 13 (5.3%) cases and 5(1.8%) controls (OR3.03;95% CI1.06-8.63). 1456 T>G variant was found in one case and none in controls while 686C>A and 1091 C>T variants were not detected in any case or control newborns. Compound variations of UGT1A1 gene such as -3297 G >T and 211G>A, -3297G>T and (TA)6→(TA)7, and 211G>A and(TA)6→(TA)7 significantly increased the risk of hyperbilirubinemia. Logistic regression analysis showed prematurity, ABO incompatibility, sepsis, weight loss ≥10%, and -3297G>T, CAT box insertion and TATA box variants as significant risk factors for NNH.
Conclusion: Variants of UGT1A1 gene, singly or in combination, contribute significantly to neonatal hyperbilirubinemia in Indian population.
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Kumar, A., Tiwari, P., Bhutada, A. et al. 816 Ugt1A1 Gene Variants in Neonatal Hyperbilirubinemia. Pediatr Res 68 (Suppl 1), 410 (2010). https://doi.org/10.1203/00006450-201011001-00816
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DOI: https://doi.org/10.1203/00006450-201011001-00816