UGT1A1 gene promoter-region variants: Pakistani cohort
Description
This primary exploratory study was performed for the identification of UDP-glucuronosyltransferase 1A1 (UGT1A1) gene promoter-region variants (UGT1A1*1, *28, *36 and *37) in adults of Pakistani origin. Genomic DNA extraction was performed to find out the quantum of cases in the local Rawalpindi population using a fluorescent probe-based real-time Polymerase Chain Reaction technique while also measuring their baseline total bilirubin levels. Only 2 variants were expressed, the most prevalent wild-type allele, UGT1A1*1 and the reduced-function UGT1A1*28. The reduced-function allele (*28) was present at a similar frequency but the homozygous genotype (*28/*28) was at a substantially higher frequency compared to available South Asian data. No statistically significant associations (p-value >0.05) were found between the UGT1A1 promoter genotypes or gender and baseline total bilirubin levels, although trends suggested a potential influence of both on bilirubin levels. The study provides baseline data on local genetic diversity but findings may need to be validated by further studies.