Association Between udp-glucuronosyltransferase 1a1 (ugt1a1) Gene Polymorphism, (c.-3279t>g) and Phototherapy among Glucose-6-Phosphate Dehydrogenase (g6pd)-Deficient Neonates

Fook-Choe Cheah*¹, Fei-Liang Wong¹, Azlin Ithnin² and Ainoon Othman³

Received: January 22, 2018;   Published: January 31, 2018

DOI: 10.26717/BJSTR.2018.02.000714

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Abstract

Hyperbilirubinemia is one of the most commonly encountered conditions even in otherwise healthy newborn infants in the first week of life. There is emerging evidence that polymorphism of genes involved in bilirubin conjugation such as the UDP-glucuronosyltransferase 1A1 (UGT1A1) may contribute to some infants developing neonatal jaundice, significant enough to require phototherapy. In many parts of the world, glucose-6-phosphate dehydrogenase (G6PD) deficiency is also a major cause of severe neonatal hyperbilirubinemia. Some genetic polymorphisms of UGT1A1 and G6PD are associated with more severe hyperbilirubinemia. Recently, the c.-3279T>A mutation in the Phenobarbital responsive enhancer module was reported to decrease UGT1A1 transcriptional activity and associated with more neonatal jaundice. However, there are limited reports of co-inheritance of these two gene variants, whether this predisposes infants to greater risk for phototherapy. We studied a total of 133 infants and our results indicate that the occurrence of UGT1A1 allele c.-3279T>G was similar in G6PD deficient infants whether or not they required phototherapy in the first five days of life. Co-inheriting both the c.-3279T>G and G6PD variants in these deficient infants also did not significantly elevate the peak serum bilirubin in the first week.

Abbreviations: AAP: American Academy of Pediatrics; FST: Fluorescent spot test; G6PD: Glucose-6-phosphate dehydrogenate; UGT1A1: Uridine 5’-diphosphate glucuronosyl transferase 1A1; WHO: World Health Organization

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