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IL-1基因的多态性与豫南地区汉族人群类风湿性关节炎的相关性 被引量:1

Association between IL - 1 gene polymorphism and rheumatoid arthritis in Han population in the south of Henan province in China
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摘要 目的 探讨豫南地区汉族人群白细胞介素-1(IL-1) 基因IL-1α+4845、IL-1β-511、IL-1β+3954和IL-1RA+2018位点单核苷酸多态性(SNP)与类风湿性关节炎(RA)易感性之间的关系.方法 采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的基因多态性分析方法对来自豫南地区的120例汉族RA患者(RA组)和100名健康人(正常对照组)进行基因多态性检测.结果 在IL-1α+4845、IL-1β-511和IL-1RA+2018位点,等位基因频率和基因型频率差异无统计学意义(P>0.05);但在IL-1β+3954位点,与正常对照组相比,RA组中TT型明显增加(RA组13.3% vs.正常对照组5%,P<0.05).Logistic回归分析结果显示IL-1β+3954位点TT基因型(OR=3.486,95%可信区间(95% CI)=1.198~10.139,P<0.05)和T等位基因(OR=1.773,95% CI=1.154~2.722,P<0.01)对于RA都是危险因素,其余位点的等位基因和基因型与RA的相关性不明显.结论 IL-1β+3954位点与豫南汉族人群的RA发病风险相关,T等位基因可作为诊断豫南地区汉族人群RA的一个潜在标志. Objective To investigate the association between IL - 1 α + 4845, IL - 1β- 511, IL - 1β+ 3954, and IL - 1 RA + 2018 single nneleotide polymorphisms (SNP) in IL - 1 region and rheumatoid arthritis (RA) in Han population in the south of Henan province. Methods 120 RA patients of Han population in the south of Henan province ( RA group) and 100 healthy subjects (normal control group) were recruited in the study. Genotype for SNPs including IL- 1 α + 4845, IL - 1β - 511, IL - 1 β + 3954 and IL - 1RA + 2018 was performed by amplifying the polymorphic region using polymerase chain reaction -restriction fragment length polymorphism (PCR -RFLP) analysis. Results No differences were observed in the genotype carriage rate and allele frequency in RA patients and normal controls for IL - 1α+ 4845, IL- 1β -51 l, and IL- 1RA + 2018 polymorphisms (P 〉 0.05 ). Comparison of RA patients and normal controls revealed significant increase in the carriage rate of rare (TT) genotype for IL- 1β + 3954 in the RA eases (13.3% in RA group vs. 5% in normal control group, P 〈0.05). TT genotype (OR =3. 486, 95% CI = 1. 198 - 10. 139,P 〈 0.05 ) and T allele ( OR = 1. 773, 95% CI = 1. 154 - 2. 722, P 〈 0.01 ) were risk factors for RA, which were confirmed by Logistic regression. No significant associations were observed in other SNPs. Conclusion IL - 1β + 3954 is associated with susceptibility to RA in Han population in the south of Henan province and T allele can be used as a potential prognostic marker for RA in Han population in the south of Henan province.
出处 《徐州医学院学报》 CAS 2012年第1期27-31,共5页 Acta Academiae Medicinae Xuzhou
基金 基金项目:国家自然科学基金青年基金(30801010) 信阳师范学院青年科研基金(20080207)
关键词 类风湿性关节炎 单核苷酸多态性 白细胞介素-1 rheumatoid arthritis single nucleotide polymorphism interleukin - 1
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