Association of rs2231142 with Serum Uric Acid among the Nepalese Patient Visiting the Tertiary Care Hospital

Background: Uric acid is the byproduct of purine nucleotide catabolism. Hyperuricemia is an excess of uric acid in the blood which leads to gout. The single nucleotide polymorphism, C-to-A mutation rs223114 in ABCG2 gene, that results in a Q-to-K substitution at position 141, has been associated with hyperuricemia and gout. However, this association, in Nepalese patient, has not been established. Objectives: To examine the association of SNP rs2231142 in ABCG2 gene with serum uric acid in Nepalese people for the 1st time. Methods: A total of 30 samples with elevated serum uric acid were genotyped for rs2231142 and association of this variant with uric acid was investigated. Results: Among 30 samples, 40% of the patients tested positive for rs2231142 mutation and remaining 60% of the patient tested negative for the mutation. Both type of mutation (i.e. homozygous as well as heterozygous mutation) were found in which mainly heterozygous mutation was found to be predominant (30%). Conclusions: This study concluded the positive association of the rs2231142 variant of ABCG2 gene with serum uric acid in Nepalese population where heterozygous mutation was more prevalent.