FLG基因SNPs与延边朝鲜族特应性皮炎的相关性
发布时间:2018-01-23 18:05
本文关键词: 丝聚蛋白 单核苷酸多态性 朝鲜族 出处:《中国皮肤性病学杂志》2017年03期 论文类型:期刊论文
【摘要】: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(P0.05);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(P0.05);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)(P0.01);rs3126085-G等位基因频率显著低于CEU(P0.01)。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。
[Abstract]:Objective to investigate the single nucleotide polymorphisms (SNPsSNPs) of the silk polypeptide FLG gene (FLG) and its association with AD in Korean atopic dermatitis in Yanbian area. Methods 70 AD patients and 90 normal controls were selected as subjects. The genotypes and alleles of two SNPs loci of FLG gene, rs11584340 and rs3126085, were analyzed by PCR method. Results the allele frequencies of two SNPs rs11584340G and rs3126085G) of FLG gene were found in AD group. The balance law of Hardy-Weinberg was obeyed between the control group and the control group (P 0.05). The allelic frequencies of rs11584340 and rs3126085 loci were not significantly different between AD group and control group in Yanbian Korean population (P 0.05). Rs11584340 and rs3126085 were strongly linked disequilibrium. The allelic frequencies of two SNPs alleles of FLG gene in Yanbian ethnic group were different from those in Hap Map database (SS41111533S17361789). The frequency of rs11584340-G allele was significantly lower than that of African YRI) and European CEUU (P0.01). The frequency of rs3126085-G allele was significantly lower than that of CEUU P0.01.Conclusion rs11584340 and rs3126085 are strongly linkage disequilibrium in Yanbian Korean nationality. There were ethnic and ethnic differences in SNP of FLG gene. Rs11584340 and rs3126085 polymorphisms of FLG gene may not be associated with AD susceptibility of Korean nationality in Yanbian area of China.
【作者单位】: 延边大学附属医院皮肤科;延边大学医学院医学遗传学教研室;
【基金】:国家自然科学基金(81560503);国家自然科学基金(81060124)
【分类号】:R758.2
【正文快照】: 特应性皮炎(atopic dermatitis,AD),又称遗传过敏性湿疹,是一个与遗传相关的慢性皮肤病,主要特点是皮肤瘙痒,是常伴或先于过敏性鼻炎和哮喘等过敏性疾病的皮肤病[1-2]。AD发病的分子基础可能是多个基因单核苷酸多态(single-nucleotide polymorphisms,SNPs)及其特定组合的累积
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1 南美兰;方宇辉;杨康鹃;朱莲花;金哲虎;;FLG基因SNPs与延边朝鲜族特应性皮炎的相关性[J];中国皮肤性病学杂志;2017年03期
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