摘要：
为了研究中国人群中TNFα基因与强直性脊柱炎（ankylosing spondylitis，AS）病理发生的潜在关系，我们通过对中国南方75名AS患者的TNFα基因启动子进行扫描分析，发现-850处突变型T等位基因出现频率较高(39.3%)。经Case-Control研究发现TT突变基因型在AS组中的分布显著高于对照组(10.7% vs 2.1% ，P=0.003)；突变型T等位基因携带者在AS组与对照组间分布差异极其显著(68.0% vs 21.4%，P=7.928×10－13)。按性别分组后，发现TX基因型和非TX基因型在AS组和对照组之间的分布差异同样具有统计学意义(男性:P=1.029×10-10；女性: P=0.001)，此多态位点在男性和女性中都与AS发生存在显著性关联。经文献查新未见本突变位点在国内外有与AS存在相关的报道。本研究证实了我们的研究假设，TNFα基因启动子-850C→T的突变可能是AS发生的新易感基因。Abstract: To study the potential correlations between variances of TNFαgene and onset of ankylosing spondylitis in Chinese population, We scanned and analyzed the promoters of TNFαgenes in 75 AS patients from south of China and found –850 T mutation allele frequency rather high (39.3%).By case-control study, the distribution of TT genotype is significantly higher in AS patients than that in normal subjects (10.7% VS 2.1%,P=0.003); Mutation T allele has a remarkable difference between AS group and normal control (68.0% vs 21.4%，P=7.928×10－13). The difference in distribution of TX genotype and non -TX genotype is also significant statistically between different genders(male: P=1.029×10-10；female: P=0.001).The result suggests that this variation has a strong association with AS in males and females. No similar reports about the association between AS and the T mutation allele have been acquired. Therefore, our hypothesis can be supported by our results on the whole and the –850C→T mutation allele in the region on promoter of TNFαgene is likely one of susceptible genes to AS.