摘要
目的：在中国湖南籍汉族强直性脊柱炎（AS）患者中,探讨肿瘤坏死因子（TNF）-α基因多态性与AS的相关性,及其致病的分子生物学机制。方法：在164例AS患者和121名健康志愿者对照中,用等位基因特异性扩增的方法,对TNF-α基因启动子的2个单核苷酸多态性（SNPs）-863C/A、-857C/T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：在AS患者中,TNF-α-857T的等位基因频率（P=0.002）和基因型频率（P=0.000002）均显著超过正常对照组,经Bonferroni校正后仍为阳性;TNF-α-863的等位基因频率及基因型频率与正常对照组差异无统计学意义。结论：本研究显示TNF-α-857基因多态性与AS存在显著的相关性,TNF-α-857T可能增加AS的易感性。
Objective To investigate the association between tumor necrosis factor-alpha （TNF-α） gene polymorphism and ankylosing spondylitis （AS） in Han population from Hunan province of China. Methods Correlation analysis was performed in a case-control cohort of 163 AS cases and 122 control, two SNPs located in the promoters of TNF-α gene （-863C/A,-857C/T） were examined by allele specific amplification. SPSS software programs were used to analyze genotype and alleles frequencies and study the relationship between frequencies of genotype and alleles of the two sites and AS. Results The frequency of allele T at position -857 significantly increased in AS cases compared with control, so was their genotype frequencies. These differences remained significant after Bonferronis correction. No association was found in AS and TNF-α-863. Conclusion The study demonstrates that AS is closely associated with polymorphism of TNF-α-857 in Chinese Han population. TNF-α-857T gene may play a role in AS susceptibility.
出处
《中华风湿病学杂志》
CAS
CSCD
2007年第9期537-540,共4页
Chinese Journal of Rheumatology
关键词
强直性脊柱炎
肿瘤坏死因子Α
基因型
多态性
Ankylosing spondylitis
Tumor necrosis factor-alpha
Genotype
Polymorphism
