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

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。

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

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.