FLG基因SNPs与延边朝鲜族特应性皮炎的相关性

Study of the Association between Single Nucleotide Polymorphisms( SNPs) of FLG Gene and the Atopic Dermatitis in Yanbian Chinese Koreans

目的探讨丝聚蛋白(FLG)基因单核苷酸多态性(SNPs)与延边地区朝鲜族特应性皮炎(AD)的关系。方法选择70例AD患者和90例正常对照人群作为研究对象,使用PCR法,分析FLG基因2个SNPs位点(rs11584340及rs3126085)的基因型与等位基因情况,探讨AD组及对照组等位基因、基因型频率分布情况。结果 FLG基因2个SNPs rs11584340(G)和rs3126085(G)等位基因频率、基因型频率在AD组、对照组之间均符合Hardy-Weinberg平衡定律(P>0.05);在延边朝鲜族人群AD组与对照组之间rs11584340和rs3126085位点的等位基因频率、基因型频率差异无统计学意义(P>0.05);rs11584340与rs3126085为强连锁不平衡(D'=1.00,r^2=0.84);延边地区朝鲜族FLG基因2个SNPs的等位基因频率与Hap Map数据库(ss41111533,ss17361789)比较均存在差异,rs11584340-G等位基因频率显著低于非洲人(YRI)和欧洲人(CEU)(P<0.01);rs3126085-G等位基因频率显著低于CEU(P<0.01)。结论延边朝鲜族rs11584340和rs3126085为强连锁不平衡;FLG基因SNP存在种族差异和民族差异;FLG基因rs11584340和rs3126085多态可能与中国延边地区朝鲜族AD易感性不相关。

Objective To investigate the association between single nucleotide polymorphisms（SNPs）of the gene of filaggrin（FLG）and atopic dermatitis（AD）in Yanbian Korean Chinese populations.Methods A total of 70 cases with AD, and 90 cases with health control were enrolled in this study.The genotypes and alleles of SNPs rs11584340 and rs3126085 were determined by the method of PCR.The distribution of allele and genotype frequencies were determined.Results AD and the control group, both allele and genotype frequency of 2 SNPs rs11584340（G）and rs3126085（G）conformed to the predication of Hardy-Weinberg equilibrium and showed no significant difference（P〉0.05）. In Yanbian Korean Chinese population, both allele and genotype frequency of rs11584340 and rs3126085 showed no significant difference between patiens with AD and the control group（P〉0.05）. rs11584340 was strong linkage disequilibrium with rs3126085（D＇=1.00,r2=0.84）.The alleles frequencies of 2 SNPs in Yanbian Korean Chinese populations had significant differences with that in HapMap database（ss41111533,ss17361789）.The allele G frequency of rs11584340 in Yanbian Korean Chinese was significantly lower than Yoruban in Ibadan（YRI）and European（CEU）（P〈0.01）.The frequencies of the alleles G of rs3126085 was significantly lower than CEU（P〈0.01）.Conclusion rs11584340 was strong linkage disequilibrium with rs3126085. FLG gene SNPs had nation difference and race difference. The polymorphism of rs11584340 and rs3126085 is not associated with susceptibility of AD in Yanbian Korean Chinese population.