發(fā)布時(shí)間：2018-03-05 01:05

  本文選題：尋常型銀屑病　切入點(diǎn)：ZNF816A基因　出處：《安徽醫(yī)科大學(xué)》2011年碩士論文　論文類型：學(xué)位論文

【摘要】：研究背景:銀屑病(Psoriasis,OMIM#177900)是一種表皮過(guò)度增殖的慢性炎癥性皮膚病。銀屑病的病因和發(fā)病機(jī)制尚未清楚,現(xiàn)在普遍認(rèn)為銀屑病是一種復(fù)雜疾病,涉及多個(gè)位點(diǎn)、多個(gè)基因及和環(huán)境因素的共同作用。尋常型銀屑病(Psoriasis Vulgaris,PV)是最常見(jiàn)的臨床類型。本課題組通過(guò)全基因組關(guān)聯(lián)分析(Genome-wide Association Study,GWAS)研究在國(guó)際上首次報(bào)道了ZNF816A為銀屑病的易感基因。 目的:從性別、發(fā)病年齡、家族史及臨床類型四個(gè)角度對(duì)尋常型銀屑病進(jìn)行分層分析,在漢族人群中研究ZNF816A基因多態(tài)性(rs9304742)位點(diǎn)與臨床表型的相關(guān)性,為進(jìn)一步探討尋常型銀屑病的發(fā)病機(jī)制提供重要的遺傳學(xué)依據(jù)。 方法:采用統(tǒng)一設(shè)計(jì)的銀屑病遺傳流行病學(xué)調(diào)查表和正常對(duì)照調(diào)查表,由經(jīng)過(guò)專門培訓(xùn)的流行病學(xué)調(diào)查員以問(wèn)卷調(diào)查的形式,收集銀屑病病例7,318例,對(duì)照11,290例。所有研究對(duì)象的ZNF816A基因多態(tài)性rs9304742基因分型(CC、CT、TT)資料均來(lái)源于本研究小組利用Illumina 610芯片對(duì)漢族人銀屑病進(jìn)行全基因組關(guān)聯(lián)分析的基因分型數(shù)據(jù)。用Epi Info 6.0軟件建立數(shù)據(jù)庫(kù),采用SPSS15.0軟件進(jìn)行統(tǒng)計(jì)學(xué)分析。 結(jié)果:1. ZNF816A基因多態(tài)位點(diǎn)rs9304742等位基因和基因型的分布頻率在病例組與對(duì)照組之間的差異有統(tǒng)計(jì)學(xué)意義(P值分別為1.80×10~(-8)和8.32×10~(-8));將病例按照臨床表型分組后分別與對(duì)照組比較,等位基因和基因型的分布頻率在各表型組與對(duì)照組間的差異仍具有統(tǒng)計(jì)學(xué)意義(P值均小于0.01)。2. SNP rs9304742等位基因和基因型的分布頻率在男性患者和女性患者之間的差異無(wú)統(tǒng)計(jì)學(xué)意義(分別為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頻率在少兒發(fā)病組和成人發(fā)病組之間的差異無(wú)統(tǒng)計(jì)學(xué)意義(分別為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頻率在有家族史患者和無(wú)家族史患者之間的差異無(wú)統(tǒng)計(jì)學(xué)意義(分別為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點(diǎn)滴型患者組和斑塊型患者組之間的分布頻率差異無(wú)統(tǒng)計(jì)學(xué)意義(分別為χ~2=0.004,P=0.95;χ~2=0.47,P=0.79)。 結(jié)論:1. ZNF816A基因(rs9304742)遺傳多態(tài)性與中國(guó)漢族人群PV的易感性相 關(guān)聯(lián);2. ZNF816A基因(rs9304742)遺傳多態(tài)性與漢族人銀屑病的性別分布、家族史、發(fā)病年齡、臨床類型可能無(wú)明顯相關(guān)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.
【學(xué)位授予單位】：安徽醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2011
【分類號(hào)】：R758.63

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本文編號(hào)：1568061