中文摘要：

目的探索STAT2基因（rs2066808,C;rs2066807,G）,STAT3基因（rs744166,C）,IL12RB2基因（rs3790567,A;rs3790568,A）和JAK2基因（rs10758669,A）与强直性脊柱炎（AS）的关系,及6个SNP位点之间是否存在交互作用。方法通过对吉林汉族人群的48名患者与55名正常人收集的血液DNA,进行基因分型,建立基因型数据库,采用遗传学非参数分析方法,进行病例-对照分析和单纯病例分析各基因与中国人群AS患病风险的关联。采用SHEsis软件进行单倍型分析。应用MDR方法进行基因-基因交互作用分析。结果①STAT2基因（rs2066808,C;rs2066807,G）,STAT3基因（rs744166,C）,IL12RB2基因（rs3790567,A;rs3790568,A）和JAK2基因（rs10758669,A）与强直性脊柱炎（AS）关联分析显示各基因的风险等位基因和基因型频率在病例组和对照组间的分布差异无显著性（P〉0.05）。②IL12RB2基因上rs3790567,rs3790568的单倍型分析,分析结果无统计学意义（P-exact〉0.05）。③STAT2基因（rs2066808,C;rs2066807,G）,STAT3基因（rs744166,C）,IL12RB2基因（rs3790567,A;rs3790568,A）和JAK2基因（rs10758669,A）的6个多态性位点的交互作用表明,最佳模型包含了rs2066808,rs3790567,rs744166,rs107586669这4个位点,模型的P〈0.0001,交叉验证一致性为10/10,检验样本的准确度为0.7032,结果提示STAT2,STAT3,IL12RB2和JAK2基因之间可能存在基因-基因交互作用。节点图说明STAT3基因与JAK2基因之间距离更短,有最强的协同作用。结论 STAT2基因（rs2066808,C;rs2066807,G）,STAT3基因（rs744166,C）,IL12RB2基因（rs3790567,A;rs3790568,A）和JAK2基因（rs10758669,A）与强直性脊柱炎（AS）关联分析显示各基因的风险等位基因和基因型频率在病例组和对照组间的分布差异无显著性（P〉0.05）。四个基因之间存在交互作用。

英文摘要：

Objective To explore whether STAT2,STAT3,IL12RB2,JAK2 have the association with Ankylosing spondylitis （AS）,and whether STAT2,STAT3,IL12RB2,JAK2 have the interaction with each other. Methods Collect DNA of 48 cases and 55 controls from Jilin Province. Type gene,set up gene data-base and analyze the association of Chinese AS in the case-control and case-only model through the way of nonparametric. Analyze the interaction among genes in the means of MDR. Results ①There is no remarkable different distribution of risk alleles and genotype frequencies in cases and controls among the association of STAT2 （rs2066808,C; rs2066807,G）,STAT3（rs744166,C）,IL12RB2（rs3790567,A; rs3790568,A）,JAK2（rs10758669,A） and ankylosing sponkylitis（P0.05）. ②We analyze the haplotype of STAT2（rs2066808,rs2066807） and IL12RB2（rs3790567,rs3790568）. But there is no statistic meaning （P0.05）. ③ Analysis of the interaction of 6 SNPs in STAT2 （rs2066808,C; rs2066807,G）, STAT3（rs744166,C）,IL12RB2 （rs3790567,A; rs3790568,A） 和 JAK2 （rs10758669,A） show rs2066808,rs3790567,rs744166, rs107586669 composing the best model,P0.0001,CV consistency 10/10,training balance accuracy 0.7032 imply STAT2, STAT3,IL12RB2 and JAK2 might have the gene interaction. STAT2 and JAK2 have the closer distance in the force graph,they cooperate with each other intensely. Conclusion There is no remarkable different distribution of risk alleles and genotype frequencies in cases and controls among the association of STAT2（rs2066808,C; rs2066807,G）,STAT3（rs744166,C）,IL12RB2（rs3790567, A; rs3790568,A） ,JAK2（rs10758669,A） and ankylosing sponkylitis（P0.05）. These genes have the interaction with each other.