Polymorphism and protein expression of MUTYH gene for risk of rheumatoid arthritis
Polymorphism and protein expression of MUTYH gene for risk of rheumatoid arthritis
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DOI：
10.1186/s12891-017-1437-0
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发表时间：
2017-02-07
影响因子：
2.3
通讯作者：
Tsai, Fuu-Jen
中科院分区：
文献类型：
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作者：
Chen, Shih-Yin;Chen, Hsin-Han;Tsai, Fuu-Jen
背景：我们先前已经描述了台湾人群中类风湿性关节炎(RA)的患病率与两个突变的同源(E.coli)(MUTYH)SNP(rs3219463和rs3219476)之间的关系。本研究旨在阐明SNPs在RA发病过程中是否会改变EGFR的表达。方法：队列研究包括368例台湾汉族RA患者和364例健康对照。分析参与者的血清MUTYH水平，并从他们的基因组DNA中鉴定MUTYH的rs3219463SNP。结果：我们的数据导致RA患者和对照组rs3219463的基因频率分布有统计学差异(p<；0.0002)。此外，携带G携带者的患者关节疼痛的可能性较小(P<；0.006)和DAS28评分(P<；0.003)。此外，血清MUTYH水平在RA患者中也有升高(p<；0.005)。结论：我们的研究表明RA与表皮生长因子受体基因rs3219463SNP和血清MUTYH蛋白水平升高有关。这些发现提示MUTYH作为RA的治疗靶点值得进一步研究。
Background: We have previously described the association between rheumatoid arthritis (RA) prevalence and the two mutY Homolog (E. coli) (MUTYH) SNPs (rs3219463 and rs3219476) among the Taiwanese population. This present study will aim to elucidate whether the SNPs can alter the expression of EGFR in the progression of RA.Methods: The cohort study included 368 Taiwan's Han Chinese RA patients and 364 healthy controls. Blood samples collected from the participants were analyzed to determine their serum MUTYH levels and to identify rs3219463 SNP of MUTYH from their genomic DNA.Results: Our data resulted in a statistically significant difference in genotype frequency distributions at rs3219463 for RA patients and controls (p < 0.0002). Also, the patients with G carrier at rs3219463 were less likely to suffer from painful joints (p < 0.006) and DAS28 scores (p < 0.003). Furthermore, the increase in serum level of MUTYH was also observed in RA patients (p < 0.005).Conclusions: Our study showed that RA is associated with rs3219463 SNP in EGFR gene and an increased serum level of the MUTYH protein. These findings suggest MUTYH is worthy of further investigation as a therapeutic target for RA.