ZNF816A基因多态性与汉族人寻常型银屑病表型的相关性研究

发布时间：2018-03-05 01:05

本文选题：寻常型银屑病　切入点：ZNF816A基因　出处：《安徽医科大学》2011年硕士论文　论文类型：学位论文

【摘要】：研究背景:银屑病(Psoriasis,OMIM#177900)是一种表皮过度增殖的慢性炎症性皮肤病。银屑病的病因和发病机制尚未清楚,现在普遍认为银屑病是一种复杂疾病,涉及多个位点、多个基因及和环境因素的共同作用。寻常型银屑病(Psoriasis Vulgaris,PV)是最常见的临床类型。本课题组通过全基因组关联分析(Genome-wide Association Study,GWAS)研究在国际上首次报道了ZNF816A为银屑病的易感基因。目的:从性别、发病年龄、家族史及临床类型四个角度对寻常型银屑病进行分层分析,在汉族人群中研究ZNF816A基因多态性(rs9304742)位点与临床表型的相关性,为进一步探讨寻常型银屑病的发病机制提供重要的遗传学依据。方法:采用统一设计的银屑病遗传流行病学调查表和正常对照调查表,由经过专门培训的流行病学调查员以问卷调查的形式,收集银屑病病例7,318例,对照11,290例。所有研究对象的ZNF816A基因多态性rs9304742基因分型(CC、CT、TT)资料均来源于本研究小组利用Illumina 610芯片对汉族人银屑病进行全基因组关联分析的基因分型数据。用Epi Info 6.0软件建立数据库,采用SPSS15.0软件进行统计学分析。结果:1. ZNF816A基因多态位点rs9304742等位基因和基因型的分布频率在病例组与对照组之间的差异有统计学意义(P值分别为1.80×10~(-8)和8.32×10~(-8));将病例按照临床表型分组后分别与对照组比较,等位基因和基因型的分布频率在各表型组与对照组间的差异仍具有统计学意义(P值均小于0.01)。2. SNP rs9304742等位基因和基因型的分布频率在男性患者和女性患者之间的差异无统计学意义(分别为χ~2=0.63,P=0.43;χ~2=0.88,P=0.65)。3. SNP rs9304742等位基因和基因型的分布频率在少儿发病组和成人发病组之间的差异无统计学意义(分别为χ~2=1.12,P=0.30;χ~2=1.11,P=0.57)。4.SNP rs9304742等位基因和基因型的分布频率在有家族史患者和无家族史患者之间的差异无统计学意义(分别为χ~2=2.37,P=0.13;χ~2=4.43,P=0.11)。5. SNP rs9304742等位基因和基因型在点滴型患者组和斑块型患者组之间的分布频率差异无统计学意义(分别为χ~2=0.004,P=0.95;χ~2=0.47,P=0.79)。结论:1. ZNF816A基因(rs9304742)遗传多态性与中国汉族人群PV的易感性相关联;2. ZNF816A基因(rs9304742)遗传多态性与汉族人银屑病的性别分布、家族史、发病年龄、临床类型可能无明显相关性。
[Abstract]:Background: Psoriasisl OMIM #177900) is a chronic inflammatory skin disease with excessive epidermis proliferation. The etiology and pathogenesis of psoriasis are not clear. Now psoriasis is generally considered to be a complex disease involving multiple loci. Psoriasis Vulgaris PVV is the most common clinical type of psoriasis vulgaris. The study of Genome-wide Association study GWASS has reported that ZNF816A is a susceptible gene of psoriasis in the world for the first time. Objective: to study the relationship between ZNF816A gene polymorphism rs9304742 and clinical phenotypes by stratified analysis of psoriasis vulgaris from gender, onset age, family history and clinical type. To further explore the pathogenesis of psoriasis vulgaris provides an important genetic basis. Methods: 7,318 cases of psoriasis were collected by the questionnaire of genetic epidemiology of psoriasis and normal control questionnaire. The data of ZNF816A polymorphism rs9304742 genotyping in all subjects were obtained from the genotyping data of the whole genome association analysis of psoriasis using Illumina 610 microarray. Epi Info 6.0 was used to analyze psoriasis in Han nationality. Software to establish a database, SPSS15.0 software was used for statistical analysis. Results the distribution frequency of rs9304742 allele and genotype in ZNF816A gene polymorphism locus were significantly different between the case group and the control group (P = 1.80 脳 10 ~ (-8)) and 8.32 脳 10 ~ (10) ~ (-8), respectively, and were compared with the control group according to the clinical phenotype. The distribution frequency of alleles and genotypes in each phenotypic group and control group were still significantly different (P < 0.01). 2. The difference of allele and genotype distribution frequency between male and female patients. There was no significant difference in alleles and genotypes of SNP rs9304742 between children and adults (蠂 ~ 2 / 2, 0.63, P = 0.43; 蠂 ~ (2 +) 0.88). The frequencies of alleles and genotypes of SNP rs9304742 were not significantly different between children and adults (蠂 ~ (21.11) P ~ (0.57)); 蠂 ~ (21.11) P _ (0.57). 4. The frequencies of distribution of rs9304742 alleles and genotypes of SNP were found to be significant in children and adults (蠂 ~ (2 / 21) P ~ (0.12) P ~ (0.30); 蠂 ~ (21.11) P ~ (0.57)). There was no significant difference between the patients with family history and those with no family history (蠂 ~ (2) 2 / 37) P ~ (0.13); 蠂 ~ (2 +) ~ (2.43) P ~ (0.11). 5. There was no significant difference in the distribution frequency of SNP rs9304742 allele and genotype between the drip type group and the plaque type group (蠂 ~ (2 0.004) P ~ (0.95); 蠂 ~ (2) 0.47 ~ (7) P _ (0.79)). Conclusion 1. ZNF816A gene rs9304742) genetic polymorphism and PV susceptibility in Chinese Han population. The genetic polymorphism of ZNF816A gene rs9304742 had no significant correlation with the sex distribution, family history, onset age and clinical type of psoriasis in Han nationality.
【学位授予单位】：安徽医科大学
【学位级别】：硕士
【学位授予年份】：2011
【分类号】：R758.63

【参考文献】