本文選題：白癜風(fēng)　切入點(diǎn)：漢族　出處：《安徽醫(yī)科大學(xué)》2011年碩士論文

【摘要】：研究背景白癜風(fēng)(Vitiligo)是一種常見的色素脫失性皮膚黏膜疾病。其確切發(fā)病機(jī)制尚未明確,目前普遍認(rèn)為白癜風(fēng)是一種由遺傳因素和環(huán)境因素共同引起的多基因性疾病。本課題組通過白癜風(fēng)全基因組關(guān)聯(lián)分析(Genome-wide association study ,GWAS)研究發(fā)現(xiàn)主要組織相容性復(fù)合體(Major histocompatibility complex ,MHC)區(qū)域單核苷酸多態(tài)性(Single nucleotide polymorphism ,SNP)位點(diǎn)rs11966200與中國漢族人尋常型白癜風(fēng)顯著相關(guān)。 目的對(duì)中國漢族人MHC區(qū)域SNP rs11966200與尋常型白癜風(fēng)發(fā)病年齡、發(fā)病程度、發(fā)病類型、家族史以及伴發(fā)自身免疫疾病史等臨床特征之間的關(guān)聯(lián)性進(jìn)行分析,從而可以進(jìn)一步了解MHC區(qū)域在白癜風(fēng)發(fā)病過程中所起的作用。 方法本研究通過在病例-病例間(如發(fā)病年齡小于等于20歲和發(fā)病年齡大于20歲的患者)以及病例-對(duì)照間(如發(fā)病年齡小于等于20歲以及發(fā)病年齡大于20歲的患者與正常對(duì)照)分析MHC區(qū)域SNP rs11966200的等位基因分布差異從而確定與該位點(diǎn)相關(guān)的臨床特征。6366例白癜風(fēng)病例與6582例對(duì)照的基因分型(AA,AG,GG)資料均來自本課題組白癜風(fēng)全基因組關(guān)聯(lián)分析的分型數(shù)據(jù)。數(shù)據(jù)資料經(jīng)過適當(dāng)轉(zhuǎn)化后,采用社會(huì)科學(xué)統(tǒng)計(jì)軟件包SPSS11.0進(jìn)行分析,P0.05認(rèn)為有統(tǒng)計(jì)學(xué)意義。 結(jié)果1.發(fā)病年齡小于等于20歲和大于20歲的白癜風(fēng)患者(OR = 1.54, P =2.01E-13);中重度患者(皮損累及體表面積≥5%)與輕度患者(皮損累及體表面積5%)(OR = 1.17, P = 0.025)MHC區(qū)域SNP rs11966200等位基因分布差異有統(tǒng)計(jì)學(xué)意義。 2.病例組與對(duì)照組之間等位基因分布有統(tǒng)計(jì)學(xué)意義。 結(jié)論MHC區(qū)域rs11966200單核苷酸多態(tài)性不僅與中國漢族人群尋常型白癜風(fēng)易感性相關(guān),而且還可能與尋常型白癜風(fēng)的發(fā)病年齡以及發(fā)病程度相關(guān)。
[Abstract]:Background Vitiligo is a common skin and mucosal disease with pigment loss.The exact pathogenesis of vitiligo is not clear. It is generally considered that vitiligo is a polygenic disease caused by both genetic and environmental factors.The genomic association analysis of Genome-wide association study (GWASA) showed that the single nucleotide polymorphism SNPs in the major histocompatibility complex Major histocompatibility complex were significantly associated with vitiligo vulgaris in Chinese Han nationality.Objective to analyze the relationship between SNP rs11966200 in MHC region and clinical features of vitiligo vulgaris, such as age, degree, type, family history and history of autoimmune disease.Thus, we can further understand the role of MHC region in the pathogenesis of vitiligo.Methods the present study was conducted between cases (such as those with onset age less than 20 years old and over 20 years old) and case control groups with age less than 20 years old or older than 20 years old.Analysis of allelic distribution of SNP rs11966200 in MHC region. Clinical features associated with this locus. 63666 patients with vitiligo and 6582 controls. All data were collected from our group of patients with vitiligoGenotyping data from genomic association analysis.After proper transformation, the data were analyzed by social science statistical software package SPSS11.0 (P0.05).Result 1.鍙戠梾騫撮緞灝忎簬絳変簬20宀佸拰澶т簬20宀佺殑鐧界櫆椋庢?zhèn)ｈ€，

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