MPG基因rs2858056多态性、拷贝数变异及血清MPG蛋白水平对类风湿关节炎风险的影响。
Effect of MPG gene rs2858056 polymorphism, copy number variation, and level of serum MPG protein on the risk for rheumatoid arthritis.
作者信息
Huang Chung-Ming, Chen Shih-Yin, Huang Po-Hao, Tsai Fuu-Jen
机构信息
Division of Immunology and Rheumatology, Department of Internal Medicine, China Medical University Hospital, Taichung, Taiwan; Graduate Institute of Integrated Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan.
Genetic Center, Department of Medical Research, China Medical University Hospital, Taichung, Taiwan; Graduate Institute of Chinese Medical Science, College of Chinese Medicine, China Medical University, Taichung, Taiwan.
出版信息
PLoS One. 2015 Mar 10;10(3):e0120699. doi: 10.1371/journal.pone.0120699. eCollection 2015.
OBJECTIVE
This study examined the role of SNP rs2858056 of the MPG gene on the incidence and severity of rheumatoid arthritis (RA).
METHODS
This cohort study enrolled 365 RA patients and 375 age- and gender-matched healthy controls, all of whom had Han Chinese ethnicity and were from Taiwan. Gene polymorphism of the SNP rs2858056 of MPG was determined from genomic DNA. Allelic frequencies and genotypes were compared among cases and controls. Quantitation of rs2858056 copy number variation (CNV) was determined. Serum samples from RA patients and controls were analyzed to determine serum levels of MPG. The relationship between rs2858056 polymorphism and clinical manifestations of RA was evaluated.
RESULTS
Our results indicated a statistically significant difference in genotype frequency distributions at rs2858056 for RA patients and controls (p = 0.05) and a significant difference in allelic frequency in patients and controls (p = 0.04). Furthermore, there was a significantly greater level of serum MPG protein in patients than controls (p < 0.001). However, the cases and controls had no significant differences in MPG CNV (p = 0.12). We also did not detect any association of the MPG rs2858056 with rheumatoid factor (RF), extraarticular involvement, or bone erosion in the RA patients.
CONCLUSION
Our study suggests that RA is associated with a polymorphism in the MPG gene (rs2858056) and increased serum level of the MPG protein.
目的
本研究探讨MPG基因单核苷酸多态性（SNP）rs2858056在类风湿关节炎（RA）发病及严重程度中的作用。
方法
本队列研究纳入了365例RA患者和375例年龄及性别匹配的健康对照，所有研究对象均为来自台湾的汉族。从基因组DNA中确定MPG基因SNP rs2858056的基因多态性。比较病例组和对照组的等位基因频率及基因型。测定rs2858056拷贝数变异（CNV）。分析RA患者和对照的血清样本，以确定MPG的血清水平。评估rs2858056多态性与RA临床表现之间的关系。
结果
我们的结果表明，RA患者和对照组在rs2858056的基因型频率分布上存在统计学显著差异（p = 0.05），患者和对照组的等位基因频率也存在显著差异（p = 0.04）。此外，患者血清MPG蛋白水平显著高于对照组（p < 0.001）。然而，病例组和对照组在MPG CNV方面无显著差异（p = 0.12）。我们也未检测到MPG rs2858056与RA患者的类风湿因子（RF）、关节外受累或骨质侵蚀之间存在任何关联。
结论
我们的研究表明，RA与MPG基因多态性（rs2858056）及MPG蛋白血清水平升高有关。
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