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MUTYH基因多态性与蛋白表达对类风湿关节炎风险的影响

Polymorphism and protein expression of MUTYH gene for risk of rheumatoid arthritis.

作者信息

Chen Shih-Yin, Chen Hsin-Han, Huang Yu-Chuen, Liu Shih-Ping, Lin Ying-Ju, Lo Sui-Foon, Chang Yuan-Yen, Lin Hui-Wen, Huang Chung-Ming, Tsai Fuu-Jen

机构信息

School of Chinese Medicine, China Medical University, Taichung, 404, Taiwan.

Genetics Center, Department of Medical Research, China Medical University Hospital, Taichung, 404, Taiwan.

出版信息

BMC Musculoskelet Disord. 2017 Feb 7;18(1):69. doi: 10.1186/s12891-017-1437-0.

Abstract

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.

摘要

背景

我们之前已经描述了台湾人群中类风湿关节炎(RA)患病率与双功能腺嘌呤DNA糖基化酶(大肠杆菌)(MUTYH)单核苷酸多态性(SNP)(rs3219463和rs3219476)之间的关联。本研究旨在阐明这些SNP是否会在RA进展过程中改变表皮生长因子受体(EGFR)的表达。

方法

队列研究纳入了368名台湾汉族RA患者和364名健康对照。对参与者采集的血样进行分析,以测定其血清MUTYH水平,并从其基因组DNA中鉴定MUTYH的rs3219463 SNP。

结果

我们的数据显示,RA患者和对照组在rs3219463的基因型频率分布上存在统计学显著差异(p < 0.0002)。此外,rs3219463位点携带G的患者出现关节疼痛(p < 0.006)和疾病活动评分28(DAS28)(p < 0.003)的可能性较小。此外,在RA患者中也观察到血清MUTYH水平升高(p < 0.005)。

结论

我们的研究表明,RA与EGFR基因中的rs3219463 SNP以及血清MUTYH蛋白水平升高有关。这些发现表明,MUTYH作为RA的治疗靶点值得进一步研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c5cd/5297156/5a73735d09ff/12891_2017_1437_Fig1_HTML.jpg

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