临床荟萃 ›› 2016, Vol. 31 ›› Issue (1): 40-44.doi: 10.3969/j.issn.1004-583X.2016.01.010

• 论著 • 上一篇    下一篇

白细胞介素23受体的基因多态性与类风湿关节炎的相关性

谢庆云1, 魏萌2, 符培亮1, 孙久一1, 钱齐荣1   

  1. 1.第二军医大学长征医院 关节外科,上海 20003;
    2.解放军成都军区总医院 肾脏风湿科,四川 成都 610083
  • 收稿日期:2015-10-28 出版日期:2016-01-05 发布日期:2016-04-19
  • 通讯作者: 钱齐荣,E-mail:qianqr@163.com
  • 基金资助:
    国家自然科学基金资助项目(81001336);四川省卫生厅基金资助项目(130320;130322)

Association study between single nucleotide polymorphisms of interleukin 23 receptor and rheumatoid arthritis

Xie Qingyun1, Wei Meng2, Fu Peiliang1, Sun Jiuyi1, Qian Qirong1   

  1. 1.Department of Joint Surgery, Changzheng Hospital, Second Military Medical University, Shanghai 200003, China;
    2. Department of Nephrology and Rheumatology, General Hospital of Chengdu Military Region, Chengdu 610083, China
  • Received:2015-10-28 Online:2016-01-05 Published:2016-04-19
  • Contact: Qian Qirong, Email:qianqr@163.com

摘要: 目的 探讨白细胞介素23受体(interleukin 23 receptor,IL23R)基因的单核苷酸多态性(single nucleotide polymorphisms,SNPs)与类风湿关节炎(rheumatoid arthritis,RA)易感性之间的关系。方法 采用病例对照研究,以228例RA患者和228例正常对照为研究对象,从Hapmap中国人群数据库中选取IL23R基因的标签SNPs(tag-SNPs)。用基质辅助激光解吸电离飞行时间质谱法(MALDI-TOF MS)对IL23R基因的14个tag-SNPs位点进行基因分型,分析其等位基因分布频率及位点间的交互情况。结果 所检测的14个tag-SNPs中,共有3个位点rs10489628、rs10889675和 rs10889677的基因型频率分布在RA组和对照组之间差异有统计学意义(P<0.05)。各类型的单倍体在两组间的分布差异均无统计意义(P>0.05)。结论 IL23R基因的rs10489628、rs10889675和 rs10889677与RA之间存在相关性。

关键词: 关节炎, 类风湿, 多态性, 单核苷酸, 受体, 白细胞介素23, 关联分析

Abstract: Objective To analyze the association between single nucleotide polymorphisms (SNPs) of interleukin 23 receptor (IL23R) and rheumatoid arthritis (RA).Methods Case-control study was performed on 228 RA cases and 228 controls. Tag-SNPs in IL23R gene were selected from the HapMap database Chinese population. A total of 14 tag-SNPs was examined by matrix-assisted laser desorption ionization-time-of-flight mass spectrometry (MALDI-TOF MS).Results Significant differences were detected for three SNPs (rs10489628, rs10889675 and rs10889677) in genotype analysis between RA patients and healthy controls. No significant differences in the distribution of the haplotype were found.Conclusion This study suggests that IL23R is the susceptible gene for RA.

Key words: arthritis, rheumatoid, polymorphisms, single nucleotide, receptor,interleukin 23, association

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