V12M SNP of ABCG2 Among Minahasan with Gout Arthritis

Abstract

An increasing prevalence of gout in various world populations has encouraged the GWAS study of urate transporter genes. Some findings stated SNP V12M of ABCG2 as one of the protective gene against gout and has a specific contribution towards certain populations. As the highest topacheous gout prevalence in Indonesia, Minahasa might be related to the high incidence of gout in Austronesian ancestry. This study aims to describe the distribution of V12M genetic variants both in genotype and allele forms and their associations with the risk of gout / tophus in the Minahasan community. This study involved 75 genome DNA samples of gout participants from one village in Tomohon. The distribution of V12M within the participants identified by Taqman SNP Genotyping Assay. Statistics analysis used ANOVA, Chi-Square test, independent t-test, and binary logistic regression. The study found CC homozygous was the dominant genotype in whole respondent (52%, n = 75) and group cases ( > 45% ). The frequency of C allele was higher than the T allele and consistent within the tophaceous subgroup (C = 0.794), non-tophaceous (C = 0.663) and non-gout normouricaemia (C = 0.667). There was a significant difference of sUA levels among the groups case both in C allele carriers (p < 0.001) and T allele carriers (p = 0.008). But the value was more significant in C allele carriers. The significant differences among group cases were also identified in homozygous CC genotype (p = 0.001) and heterozygous CT carriers (p = 0.002). No significant association was found between the V12M variant and the risk of gout (p > 0.05). Based on frequency analysis T allele of V12M may have a protective effect towards gout. However, statistic test were not able conclude that the T allele of T V12M has the protective effect on on gout and tophus.