ZMIZ1區(qū)域單核苷酸多態(tài)性rs11593576與漢族人白癜風表型相關(guān)性研究
發(fā)布時間：2018-09-18 08:08
【摘要】：研究背景:白癜風(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,中國漢族人的發(fā)病率約為0.19%。迄今為止,白癜風的發(fā)病機制尚不清楚,常見的發(fā)病學說有自身免疫學說、遺傳學說、神經(jīng)起源學說和黑素細胞自身破壞學說。但每種學說只能解釋疾病的一小部分。臨床和流行病學調(diào)查顯示白癜風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)了白癜風多個遺傳易感基因,但只有幾個位點,例如NLRP1 (編碼NLR家族,又叫NALP1)和HLA等位基因在多項研究中被重復。最近,我們團隊在中國漢族人白癜風易感基因全基因組關(guān)聯(lián)分析中發(fā)現(xiàn),ZMIZ1(SNP rs11593576)與漢族人白癜風有關(guān)聯(lián)。目的:研究ZMIZ1(SNP rs11593576)與漢族人白癜風某些臨床表型之間的關(guān)系,為闡述白癜風的發(fā)病機制打下基礎(chǔ)。 方法:采用統(tǒng)一設(shè)計的白癜風遺傳流行病學調(diào)查表和正常對照調(diào)查表,由經(jīng)過專門培訓的流行病學調(diào)查員以問卷調(diào)查的形式,收集白癜風病例6585例,對照8178例。所有研究對象的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芯片對漢族人白癜風進行全基因組關(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,采用SPSS13.0軟件進行統(tǒng)計學分析。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照組比較,等位基因和基因型的分布頻率在各表型組與對照組間的差異仍具有統(tǒng)計學意義(等位基因頻率在泛發(fā)型和對照組、肢端型和對照組之間差異無統(tǒng)計學意義,基因型頻率在泛發(fā)型與對照組之間無意義)。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(泛發(fā)型除外)的易感性相關(guān),但與白癜風患者的家族史、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.
【學位授予單位】：安徽醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2011
【分類號】：R758.41
本文編號：2247293
[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.
【學位授予單位】：安徽醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2011
【分類號】：R758.41
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