【摘 要】
：
目的:探讨IL-13Ral基因单核苷酸多态性(SNPs)与延边地区朝鲜族和汉族特应性皮炎(atopic dermatitis,AD)发生的相关性.方法:利用SnaPshot单碱基延伸技术检测IL-13Ral基因5个SNPs (rs2495637、rs6603441、rs11553172、rs12836817、rs12840135)的基因型.共检测了559例,其中朝鲜族265例(AD患者49例,正常
【机 构】
：
延边大学附属医院皮肤科,吉林延吉133000 延边大学生物学教研室,吉林延吉133000
【出 处】
：
中国遗传学会第九次全国会员代表大会暨学术研讨会
论文部分内容阅读
目的:探讨IL-13Ral基因单核苷酸多态性(SNPs)与延边地区朝鲜族和汉族特应性皮炎(atopic dermatitis,AD)发生的相关性.方法:利用SnaPshot单碱基延伸技术检测IL-13Ral基因5个SNPs (rs2495637、rs6603441、rs11553172、rs12836817、rs12840135)的基因型.共检测了559例,其中朝鲜族265例(AD患者49例,正常对照组216例),汉族294例(AD患者84例,正常对照组210例).结果:1.等位基因频率和基因型分析结果:IL-13Ral基因SNPsrs2495637(T)、rs6603441(G)等位基因频率在朝鲜族AD与正常对照组分布各为0.45VS.0.39;0.46VS.0.42,在汉族AD与正常对照组分布各为0.52VS.0.50;0.53VS.0.52,rs2495637、rs6603441两个位点的等位基因频率均符合Hardy-Weinberg平衡定律(P＞0.05),但均未发现rs12840135、rs11553172、rs12836817多态性,提示rs12840135、rs11553172、rs12836817不属于延边朝鲜族和汉族多态;延边朝鲜族rs2495637和rs6603441等位基因频率显著低于汉族(p=0.000,p=0.002),rs2495637位点的3种基因型频率CC、CT和TT在朝鲜族和汉族分布分别为0.44VS.0.37、0.35VS.0.27、0.21VS.0.37,结果显示延边朝鲜族与汉族各种基因型频率存在显著性差异(p＜0.01).rs6603441位点的3种基因型频率GG、GT和TT在朝鲜族和汉族分布分别为0.22VS.0.40、0.39VS.0.24、0.39VS.0.36,结果显示延边朝鲜族与汉族3种基因型也存在显著性差异(p＜0.01).2.病例-对照关联分析结果:AD患者与正常对照组之间rs2495637和rs6603441位点的等位基因频率不存在显著性差异(p＞0.05).rs2495637位点的3种基因型频率CC、CT和TT在朝鲜族AD患者与对照组发病分别为0.43VS.0.44、0.25VS.0.35、0.33VS.0.21,结果发现携带TT基因型频率高于正常对照组(0.33VS.0.21),增加罹患AD风险为2.772倍p=0.002,OR=2.772(95％CI:1.44-5.33)],以隐性遗传模式传递.在汉族人群rs2495637位点的3种基因型频率CC、CT和TT在AD与对照组分布分别为0.33VS.0.37、0.30VS.0.27、0.37VS.0.37,汉族AD患者与正常对照组之间不存在显著性差异(p＞o.05);rs6603441位点的3种基因型频率GG、GT和TT在AD与朝鲜族、汉族正常对照组分布为0.35VS.0.22;0.39VS.0.40,0.22VS.0.39;0.27VS.0.24,0.43VS.0.39;0.33VS.0.36,结果显示各种基因型频率在朝鲜族、汉族组内AD与对照组之间均无显著性差异(p＞0.05).结论:IL-13Ral基因rs2495637多态T等位基因可能是延边朝鲜族患AD的危险因子,与汉族AD患病易感性不相关;rs6603441多态可能不是延边朝鲜族和汉族AD患病危险SNP。
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