摘要目的 探讨白细胞介素23受体(IL-23R)基因单核苷酸多态性(SNP)与中国西北地区汉族人群克山病的相关性.方法 选择陕西省黄陵县汉族人群285例为研究对象,其中克山病患者(病例组)79例、健康对照者(对照组)206例,采集外周血提取基因组DNA,采用飞行时间质谱分型技术对候选位点进行基因分型.应用拟合优度x2检验分析基因频率分布是否符合Hardy-Weinberg平衡定律;应用x2检验对病例组和对照组的基因型进行关联分析;应用logistic回归分析对年龄进行校正,再次对病例组和对照组的基因型进行关联分析.结果 病例组和对照组IL-23R基因rs10889677位点基因频率分布符合Hardy-Weinberg平衡(x2=0.254,P＞0.05).关联分析结果表明,IL-23R基因rs10889677位点基因型频率分布病例组(CC、CA、AA分别为6.3％、36.7％、57.0％)与对照组(CC、CA、AA分别为5.3％、43.2％、51.5％)比较差异无统计学意义(x2=1.00δ,P＞ 0.05).经年龄校正,IL-23R基因rs10889677位点基因型频率分布两组比较差异无统计学意义(x2sdj=0.669,P＞0.05).结论 IL-23R基因rs10889677位点与中国西北地区汉族人群克山病无相关性.

abstractsObjective To investigate the relationship between single nucleotide polymorphisms of interleukin 23 receptor (IL-23R) gene and Keshan disease (KD) in Northwest Chinese Han population.Methods A total of 285 Chinese Han subjects from Huangling,Shaanxi,including 79 KD patients (case group) and 206 control subjects (control group) were involved in this study.Genomic DNA was extracted from peripheral venous blood.The polymorphism of genetic variation was genotyped by matrix-assisted laser desorption/ionization-time of flight (MALDI-TOF).All sample groups were tested for Hardy-Weinberg equilibrium using goodness-of-fit x2 test.Differences in genotype distribution between two groups were compared by x2 test.Logistic regression analysis was applied to detect association using age as a confounding factor.Results The gene frequency distribution of IL-23R gene rs10889677 in case group and control group conformed to the Hardy-Weinberg equilibrium (x2 =0.254,P ＞ 0.05).Correlation analysis results:the difference of genotype frequency of IL-23R gene rs10889677 in case group (CC,CA,AA were 6.3％,36.7％,57.0％,respectively) and control group (CC,CA,AA were 5.3％,43.2％,51.5％,respectively) was not statistically significant (x2 =1.008,P ＞ 0.05).After age adjustment,there was no significant difference in genotype frequency of IL-23R gene rs10889677 (x2sdj =0.669,P ＞ 0.05) between two groups.Conclusion There is no correlation between IL-23R gene rs10889677 and KD in Northwest Chinese Han population.