湖南地区强直性脊柱炎患者TNFRⅡ基因多态性研究  

Polymorphism within the tumor necrosis factor receptor Ⅱ （ TNFR Ⅱ ） in patients with ankyiosing spondylitis in hunan province

作　　者：李先平[1] 王敏[1] 刘俊[1] 曹虹[1] 

机构地区：[1]中南大学湘雅二医院检验科,长沙410011

出　　处：《中华微生物学和免疫学杂志》2012年第4期326-330,共5页Chinese Journal of Microbiology and Immunology

摘　　要：目的通过对湖南地区强直性脊柱炎（AS）汉族患者及健康人群DNA中肿瘤坏死因子受体（TNFR）Ⅱnt587位点的多态性分析，研究TNFRⅡnt587位点基因多态性与强直性脊柱炎发病的相关性。方法采用聚合酶链反应．限制性片段长度多态性法（PCR-RFLP）对100例AS患者和100名健康对照TNFRⅡnt587位点进行基因分型检测。数据经SPSS处理，分析两组中基因型、等位基因频率差异。结果100例患者中TNFRⅡnt587位点T／T型43例（43．0％），T／G型32例（32．0％），G／G型25例（25．0％）；100例健康对照中TNFRⅡnt587位点T／T型56例（56．0％），T／G型34例（34．0％），G／G型10例（10．0％），AS患者中TNFRⅡnt587G频率（41．0％）较正常对照（27．0％）明显增高（χ^2=8．734，P=0．003）。与对照组相比，As患者TNFRⅡnt587位点基因型为G／G时比数比（OR=3．256）明显高于T／G型（OR=1．226）和T／T型（OR=1）。结论湖南地区汉族人群中TNFRⅡnt587位点多态性与AS发病具有相关性，且G／G基因型在AS发病中具有高风险性。Objective To investigate the association between ankylosing spondylitis （AS） in Han population from Hunan province of China and polymorphism located at the position nt587 in the tumor necrosis factor receptor Ⅱ （ TNFR Ⅱ ） gene. Methods Correlation analysis was performed in a case-control of 100 AS cases and 100 healthy control. The SNPs located in the TNFR Ⅱ gene （TNFR Ⅱ nt587 ） was examined by polymerase chain reaction restriction fragment length polymorphism （PCR-RFLP）. With the SPSS software, the relationship between AS and frequencies of genotype and alleles in TNFR Ⅱ nt587 were analyzed. Results There were 43 cases with TNFR Ⅱ nt587 T/T genotype, 32 cases with TNFR Ⅱ nt587 T/G genotype and 25 cases with TNFR Ⅱ nt587 G/G genotype in the AS cases. While in the healthy control, there were 56 eases with TNFR Ⅱ nt587 T/T genotype, 34 cases with TNFR Ⅱ nt587 T/G genotype and 10 cases with TNFR Ⅱ nt587 G/G genotype. At the same times, the allele frequencies of G in AS group was significantly higher （χ^2= 8.734, P=0.003） than the control group （41.0% vs. 27.0% ）. The odds ratio in AS cases with TNFR Ⅱ nt587 G/G genotype was 3. 256, which higher than those with G/G （OR= 1. 226） genotype and T/T genotype compared the healthy control. Conclusion The study demonstrates that poly- morphism within the TNFR Ⅱ at the position nt587 is associated with AS and TNFR Ⅱ nt587 G may play an important role in AS susceptibility, and TNFR Ⅱ nt587 G/G genotype may increase the sicken risk of AS in Hunan population.

关 键 词：强直性脊柱炎 肿瘤坏死因子受体 基因多态性 

分 类 号：R593.23[医药卫生—内科学]