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Does bilirubin level correspond to interaction of c.-3279T>G and A(TA)7TAA variants in UGT1A1 gene?
Corresponding Author(s) : L Slachtova
lenka.slachtova@gmail.com
Cellular and Molecular Biology,
Vol. 55 No. 1: Porphyrias and associated pathologies. Biochemistry and molecular biology Part 1
Abstract
Promoter variants c.-3279T>G and A(TA)7TAA show decreased level of expression of UDP-glucuronosyl transferase 1A1 (UGT1A1) and consequently reduced activity of the enzyme catalyzing glucuronidation of bilirubin in hepatocytes. Thus, coincidental occurence of both variants should lead to increase of hyperbilirubinemia or contribute to its manifestation. In this study, investigation of both variants in 101 patients and 84 controls in a Caucasian population was performed and the results were compared with serum bilirubin levels. Despite high linkage disequilibrium between the loci (D' = 0.91, r2 = 0.69), we have proven an interaction between the variants increasing the odds ratio for [(TA)7]+c.[-3279T>G] homozygotes to 54.2.
Keywords
c.-3279T>G
A(TA)7TAA
UGT1A1
Gilbert´s syndrome
bilirubin.
Slachtova, L., Kemlink, D., Martasek, P., & Kabicek, P. (2015). Does bilirubin level correspond to interaction of c.-3279T>G and A(TA)7TAA variants in UGT1A1 gene?. Cellular and Molecular Biology, 55(1), 98–101. Retrieved from https://mail.cellmolbiol.org/index.php/CMB/article/view/1076
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