TNIP1基因多态性与中国北方汉族寻常性银屑病关联性分析  

Association analysis between TNIP1 gene polymorphisms and psoriasis vulgaris in a Han population from north China

作　　者：韩建文[1] 白云花 孙志强[1] 阿拉腾楚鲁[1] 刘佳[1] 吕新翔[1] 乌日娜[1] 

机构地区：[1]内蒙古医科大学附属医院皮肤科,呼和浩特010050 [2]呼伦贝尔市人民医院皮肤科

出　　处：《中华皮肤科杂志》2015年第11期756-760,共5页Chinese Journal of Dermatology

基　　金：国家自然科学基金（31160192）;内蒙古自治区卫生和计划生育委员会医疗卫生科研计划项目（201303057）;内蒙古自治区高等学校“青年科技英才支持计划”（NJYT-14-B17）;内蒙古医学院青年创新基金（NY2011QN005）

摘　　要：目的 探讨人肿瘤坏死因子α诱导蛋白3（TNFAIP3）相互作用蛋白1（TNIP1）基因多态性与中国北方汉族人寻常性银屑病的遗传关联性。 方法 收集寻常性银屑病患者465例，健康对照476例。受试者知情同意后采集外周静脉血5 ml。选择位于TNIP1基因区域的3个单核苷酸多态性（SNP），即rs17728338、rs3762999和rs999556，利用连接酶检测反应基因分型。利用PLINK1.07软件进行统计分析，卡方检验比较病例组及对照组等位基因频率及基因型频率，计算等位基因的相对危险度估计值比值比OR及其95%可信区间（95% CI）。对 3个SNP间进行连锁不平衡检验，计算两两间的r2和D′值。 结果 位于TNIP1基因区域的3个SNP在病例组和对照组中等位基因频率分布存在差异，但rs3762999和rs999556未达到Bonferroni校正水平。在显性模式下，rs3762999、rs999556的基因型频率在病例组和对照组间差异有统计学意义，达到Bonferroni校正水平（P 〈 0.016 7）。分层分析发现，3个SNP的等位基因频率、基因型频率在有家族史寻常性银屑病患者与健康对照组间的差异均具有统计学意义（均P 〈 0.016 7），rs17728338等位基因A的频率在寻常性银屑病组及各型（早发型、晚发型、有家族史、无家族史）病例组均显著高于对照组（均P 〈 0.0167）。rs3762999与 rs999556间存在强连锁不平衡（r2 = 0.910，D′ = 0.982），rs17728338与rs3762999和rs999556之间有中等程度的连锁不平衡（r2分别为0.371和0.353，D′分别为0.989和1）。 结论 TNIP1基因多态性rs17728338、rs3762999及rs999556与汉族人寻常性银屑病具有相关性。Objective To investigate the association between polymorphisms in the tumor necrosis factor α-induced protein 3 （TNFAIP3）-interacting protein 1 （TNIP1） gene and psoriasis vulgaris in a Han population from north China. Methods Totally, 465 patients with psoriasis vulgaris （PsV） and 476 healthy human controls were enrolled into the study. Five milliliters of venous blood samples were collected from these subjects after informed consent. Three single nucleotide polymorphisms （SNPs） in the TNIP1 gene, including rs17728338, rs3762999 and rs999556, were selected for genotyping with ligase detection reaction （LDR）. With the PLINK 1.07 package, statistical analysis was carried out by using the chi-square test for comparisons of allele frequencies and genotype frequencies between the patient group and control group. The allelic odds ratio （OR） and its 95% confidence interval （CI） were calculated. In addition, linkage disequilibrium analysis was performed for the three SNPs by calculating the r2 and D′ values. Results There was a difference in the allele frequencies of the three SNPs between the patients with psoriasis vulgaris and controls, but the difference was statistically significant in only the allele frequencies of rs17728338, but not in those of the other two SNPs after Bonferroni correction. Under the dominant inheritance model, the genotype frequencies of the 3 SNPs all significantly differed between the patients and controls after Bonferroni correction （all P 〈 0.016 7）. Stratification analysis showed that there was a significant difference in the allele and genotype frequencies of the three SNPs between the patients with a family history and healthy controls （all P 〈 0.016 7）, and the frequency of A allele of rs17728338 was significantly lower in the controls than in the patients with psoriasis vulgaris, patients with early-onset psoriasis vulgaris （n = 355）, patients with late-onset psoriasis vulgaris （n = 107）, patients with a family history （n = 68）, an

关 键 词：银屑病 多态性 单核苷酸 全基因组关联研究 基因 TNIP1 

分 类 号：R758.63[医药卫生—皮肤病学与性病学]