Role of ATP Binding Cassette Subfamily G Member 2 (ABCG2) Gene Mutation (rs2231142) in Hyperuricemia and Gout in Egyptian Population

Background: Hyperuricemia means increased serum uric acid levels in the blood. Meanwhile, the immune system responds to monosodium urate crystals that precipitate in synovial fluid, resulting in gout, an inflammatory arthritis. ATP Binding Cassette Subfamily G Member 2 (ABCG2) protein is a uric acid transporter responsible for excretion of uric acid through intestine and kidneys. A common polymorphism (rs2231142) in the (ABCG2) gene is correlated with elevated serum uric acid concentration causing hyperuricemia and gout.Objective: To assess the role of ABCG2 gene single nucleotide polymorphism in hyperuricemia and gout in Egyptian population.Patients and Methods: This research has been performed on eighty subjects engaged from Ain Shams University Hospitals, Internal medicine department, outpatient clinics. Subjects of the research have been subdivided into 2 groups: Group I, involved sixty (60) cases which is further subdivided into 2 subgroups. Group (Ia) which includes thirty (30) cases with gout, group (Ib) which includes thirty (30) patients with hyperuricemia and a sex and age matched group Π which includes twenty (20) healthy individuals. An informed verbal consent has been attained from all recruited subjects and under the approval of the Research Ethics Committee of Ain Shams University.Results: The current investigation demonstrated that the (GG) genotype and the (G) allele frequencies were more prevalent in healthy controls than in cases. In contrast to healthy controls, cases showed a greater incidence of the (TT) and (GT) genotypes, in addition to the (T) allele.Conclusion: The current investigation showed the presence of a significant correlation among the ABCG2 (rs2231142) 421 G/T polymorphism and development of gout with GT genotype. Though, it pointed to the probability of presence of elevated probability of progress of gout and hyperuricemia with T allele. Additional investigations with greater sample size are required to explain the correlation.