【摘要】：研究背景:白癜風(fēng)(vitiligo)是一種常見的、累及皮膚和毛囊的色素脫失性皮膚病,可發(fā)生于全身任何部位,男女均可發(fā)病,全世界發(fā)病率約為~1%。各地區(qū)的發(fā)病率存在明顯差異,中國(guó)漢族人的發(fā)病率約為0.19%。迄今為止,白癜風(fēng)的發(fā)病機(jī)制尚不清楚,常見的發(fā)病學(xué)說有自身免疫學(xué)說、遺傳學(xué)說、神經(jīng)起源學(xué)說和黑素細(xì)胞自身破壞學(xué)說。但每種學(xué)說只能解釋疾病的一小部分。臨床和流行病學(xué)調(diào)查顯示白癜風(fēng)可能是一種多基因遺傳性疾病。連鎖和關(guān)聯(lián)研究發(fā)現(xiàn)了白癜風(fēng)多個(gè)遺傳易感基因,但只有幾個(gè)位點(diǎn),例如NLRP1 (編碼NLR家族,又叫NALP1)和HLA等位基因在多項(xiàng)研究中被重復(fù)。最近,我們團(tuán)隊(duì)在中國(guó)漢族人白癜風(fēng)易感基因全基因組關(guān)聯(lián)分析中發(fā)現(xiàn),ZMIZ1(SNP rs11593576)與漢族人白癜風(fēng)有關(guān)聯(lián)。目的:研究ZMIZ1(SNP rs11593576)與漢族人白癜風(fēng)某些臨床表型之間的關(guān)系,為闡述白癜風(fēng)的發(fā)病機(jī)制打下基礎(chǔ)。 方法:采用統(tǒng)一設(shè)計(jì)的白癜風(fēng)遺傳流行病學(xué)調(diào)查表和正常對(duì)照調(diào)查表,由經(jīng)過專門培訓(xùn)的流行病學(xué)調(diào)查員以問卷調(diào)查的形式,收集白癜風(fēng)病例6585例,對(duì)照8178例。所有研究對(duì)象的ZMIZ1區(qū)域SNP rs11593576基因分型資料均來源于本研究小組利用Illumina 610芯片對(duì)漢族人白癜風(fēng)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SPSS13.0軟件進(jìn)行統(tǒng)計(jì)學(xué)分析。結(jié)果:1.rs11593576等位基因和基因型分布頻率在病例組和對(duì)照組之間均有顯著性差異(P值分別為3.93×10~(-8)和4.81×10~(-7))。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(等位基因頻率在泛發(fā)型和對(duì)照組、肢端型和對(duì)照組之間差異無統(tǒng)計(jì)學(xué)意義,基因型頻率在泛發(fā)型與對(duì)照組之間無意義)。2. SNP rs11593576等位基因和基因型頻率在病例各臨床表型間均無意義(P0.05)。 結(jié)論:SNP rs11593576與漢族人白癜風(fēng)(泛發(fā)型除外)的易感性相關(guān),但與白癜風(fēng)患者的家族史、發(fā)病年齡、有無伴發(fā)疾病、皮損類型可能無顯著相關(guān)性。
[Abstract]:BACKGROUND: Vitiligo is a common depigmented dermatosis involving skin and hair follicles. It can occur anywhere in the body. The incidence of vitiligo in men and women is about 1% worldwide. The incidence of vitiligo varies greatly from region to region. The incidence of vitiligo in Chinese Han people is about 0.19%. It's not clear. Common pathogenesis theories include autoimmunity, genetics, neurogenesis, and melanocyte self-destruction. But each theory accounts for only a small fraction of the disease. Clinical and epidemiological investigations suggest that vitiligo may be a polygenic inherited disease. Linkage and association studies have identified multiple legacies of vitiligo. We recently found that ZMIZ1 (SNP rs11593576) was associated with vitiligo in Chinese Han population by genome-wide association analysis. Objective: To study the association between ZMIZ1 (SNP rs11593576) and vitiligo in Chinese Han population. 576) The relationship between vitiligo and some clinical phenotypes in Han nationality lays a foundation for explaining the pathogenesis of vitiligo.
Methods: A uniformly designed genetic epidemiological questionnaire and a normal control questionnaire were used to collect 6585 cases of vitiligo and 8178 cases of control by specially trained epidemiologists. The genotyping data of SNP rs11593576 in ZMIZ1 region of all subjects were obtained from the study group. Genome-wide association analysis of vitiligo was performed by Illumina 610 microarray. Epi Info 6.0 software was used to establish a database and SPSS 13.0 software was used for statistical analysis. Results: 1. The allele and genotype distribution frequencies of rs11593576 were significantly different between the case group and the control group (P values were 3.93 *10 ~ respectively). (8) and 4.81 * 10 ~ (- 7). After grouping the patients according to the clinical phenotype, the distribution frequencies of alleles and genotypes were still significantly different between the phenotype group and the control group (allele frequencies were not significantly different between the generalized hairstyle and the control group, acrotype and the control group, genotype frequencies were significantly different between the phenotype group and the control group). The allele and genotype frequencies of SNP rs11593576 were not significant among the clinical phenotypes (P 0.05).
Conclusion: SNP rs11593576 is associated with susceptibility to vitiligo (except for generalized vitiligo) in Han nationality, but not with family history, age of onset, concomitant disease and type of skin lesion.
【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)】：R758.41

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