台灣痛風人群中ABCG2基因rs2231142的多態性

Polymorphisms of rs2231142 in the ABCG2 gene in the Taiwanese gout population

目的：在白種人族群中的全基因組關聯研究中確定了與痛風相關的多個基因位點，包括ABCG2中的單核苷酸多態性（SNP）rs2231142。但是，這種關聯在台灣人群中還不清楚。方法：進行病例對照研究，以研究台灣人群ABCG2基因rs2231142多態性與痛風之間的關係。結果：總共178名研究參與者包括78名痛風患者和100名年齡和性別相配的匹配對照受試者。與對照組相比，痛風患者在SNP rs2231142處表現出更高頻率的AA基因型（35.9%病例對9.0%對照）和A等位基因（61.5%病例對29.5%對照）。AA基因型和CA基因型的勝算比（與CC基因型相比）很明顯：AA基因型為15.56（95%CI：5.65-42.81，p <0.001），CA基因型為4.88（95%CI：2.18–10.93，p <0.001）。A等位基因（與C等位基因相比）的比值比（OR）也很明顯，為3.82（95%CI：2.46-5.96，p <0.001）。結論：rs2231142的A等位基因與痛風的風險增加有關。SNP rs2231142（尤其是AA基因型）與台灣人群對痛風的敏感性增加有關。

Objectives: Genome-wide association studies in Caucasian populations have identified multiple gene loci associated with gout, including the single nucleotide polymorphism (SNP) rs2231142 in ABCG2. However, this association is not clear in the Taiwanese population. Methods: A case-control study was performed to investigate the association between the ABCG2 rs2231142 polymorphism and gout in the Taiwanese population. Results: A total of 178 study participants including 78 gout patients and 100 age- and sex-matched control subjects were included in this study. Compared with the controls, gout patients exhibited a higher frequency of the AA genotype (35.9% cases vs. 9.0% controls) and the A allele (61.5% cases vs. 29.5% controls) at SNP rs2231142. The odds ratios for the AA genotype and the CA genotype (compared to the CC genotype) were significant: 15.56 for the AA genotype (95% confidence interval (CI): 5.65–42.81, p < 0.001) and 4.88 for the CA genotype (95% CI: 2.18–10.93, p < 0.001). The odds ratio (OR) for the A allele (compared to the C allele) was also significant at 3.82 (95% CI: 2.46–5.96, p < 0.001). Conclusion: The A allele of rs2231142 was associated with an increased risk of gout. The SNP rs2231142, particularly the AA genotype, is associated with increased susceptibility to gout in the Taiwanese population.