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云南人群中PTPN22和PADI4基因多态性与类风湿关节炎的关联研究 被引量：5

Association of polymorphisms of PTPN22 and PADI4 genes with rheumatoid arthritis in Yunnan
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摘要 目的探讨云南人群PTPN22和PADl4基因的7个SNP多态与类风湿关节炎易感性的相关性。方法选取192例类风湿关节炎患者和288名正常人进行病例对照研究。分别用PCR-RFLP法检测PTPN22基因的rs33996649和1858位点、PADl4基因的rsll203366和rs874881位点，用焦磷酸测序法检测PADl4基因的rsl635579、rs2428736和rs2240340共7个SNP位点的基因型。结果在7个SNP位点中，PADl4基因的rs2240340位点的等位基因频率和基因型频率在病例组和对照组间差异有统计学意义（P〈0．05）。结论在云南人群中PADl4基因的rs2240340多态性与类风湿关节炎的易感性存在相关性。 Objective To assess the association between genetic polymorphisms of 7 SNPs inPTPN22 and PADI4 genes and susceptibility to rheumatoid arthritis in Yunnan. Methods A case-control study was carried out on 192 patients of rheumatoid arthritis and 288 healthy controls. Genotypes of rs33996649 and 1858 loci within PTPN22 gene, and rs11203366 and rs874881 loci within PADI4 gene were determined with polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） method. Genotypes of rs1635579, rs2428736 and rs2240340 in PADI4 gene were determined with pyro-sequencing. Results The frequencies of alleles and genotypes of rs2240340 locus in PADI4 gene showed a significant difference between rheumatoid arthritis and control in Yunnan population （P 〈 0. 05）. Conclusion Our results suggested that rs2240340 in PADI4 gene is associated with susceptibility to rheumatoid arthritis in Yunnan.
作者 李倩 林克勤 李芹 王静 俞娟 于亮 易薇 黄小琴 褚嘉祜 杨昭庆
机构地区 中国医学科学院&北京协和医学院医学生物学研究所 昆明医科大学 云南省第一人民医院风湿免疫科
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2013年第1期111-115,共5页 Chinese Journal of Medical Genetics
基金 国家自然科学基金面上项目（30971578）
关键词 类风湿关节炎 基因多态性 PTPN22基因 PADI4基因 Rheumatoid arthritis Gene polymorphism PTPN22 gene PADI4 gene
分类号 R593.22 [医药卫生—内科学]
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共引文献19

同被引文献109

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中华医学遗传学杂志
2013年 第1期

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