肿瘤坏死因子-α基因启动子376位点基因多态性与强直性脊柱炎的相关性

目的探讨中国汉族人强直性脊柱炎(AS)患者肿瘤坏死因子(TNF)-α基因启动子-376位点基因突变与AS的相关性,及其可能的致病分子生物学机制。方法用等位基因特异性扩增的方法,对164例AS患者和121例正常对照者的TNF-α基因启动子-376G/A单核苷酸多态性(single nucleotide polymorphisms,SNPs)进行基因分型,分析单个位点的等位基因和基因型频率是否与AS相关。结果 TNF-α-376位点的3个基因型频率在AS组中分别为89%、1.2%和9.8%,在对照组中分别为92.6%、0.8%和6.6%,2组之间基因型频率分布比较,差异无显著统计学意义(χ2=1.016,P=0.602);G和A等位基因频率在AS中分别为93.9%和6.1%,在对照组中分别为95.9%和4.1%,2组比较差异无显著统计学意义(χ2=0.721,P=0.346)。结论 TNF-α-376基因多态性与AS不存在显著的相关性,TNF-α-376可能不是AS的易感基因。

Association of Gene Polymorphisms of Tumor Necrosis Factor-alpha at Position-376 with Ankylosing Spondylitis

Objective To investigate the association between tumor necrosis factor-alpha （TNF-tx） 376 gene mutation and ankylosing spondylitis（AS） in Chinese Han population. Methods A correlation analysis was performed in a case-control cohort of 164 AS cases and 121 controls, two single nucleotide polymorphisms （SNPs） located in the promoters of TNF-ct gene （-376 G/A）were examined by allele specific amplification. Statistics product and service solutions（SPSS） software programs was used to calculate genotype and alleles frequencies and was applied to test the relationship between frequencies of genotype and alleles and AS. Results TNF-ct-376 genotypes were G/G homozygote in 89%, A/A homozygote in 1.2%, and G/A heterozygote in 9. 8% respectively in AS patiens. While TNF-α-376 genotypes were G/G homozygote in 92. 6%, A/A homozygote in 0. 8%, and G/A heterozygote in 6. 6% respectively in the control group. No significant difference was found in the distribution of TNF-α-376 genotype between both groups （ X^2 = 1. 016, P =0. 602）. The frequencies of TNF-α-376 alleles in AS patients were 93.9% for G and 6. 1%for A, while they were 95.9% for G and 4. 1% for A in the control group. No significant differences （ X^2 =0. 721, P =0. 346） were found at the polymorphic alleles in the TNF-α-376 G/A genes. Conclusions AS is not associated with polymorphism of TNF-α-376 in Chinese Han population. TNF-α-376 gene may do not be involved in AS susceptibility.