MHC区域rs11966200单核苷酸多态性与汉族人寻常型白癜风临床特征的相关性研究

发布时间：2018-04-03 09:29

  本文选题：白癜风　切入点：汉族　出处：《安徽医科大学》2011年硕士论文

【摘要】：研究背景白癜风(Vitiligo)是一种常见的色素脱失性皮肤黏膜疾病。其确切发病机制尚未明确,目前普遍认为白癜风是一种由遗传因素和环境因素共同引起的多基因性疾病。本课题组通过白癜风全基因组关联分析(Genome-wide association study ,GWAS)研究发现主要组织相容性复合体(Major histocompatibility complex ,MHC)区域单核苷酸多态性(Single nucleotide polymorphism ,SNP)位点rs11966200与中国汉族人寻常型白癜风显著相关。 目的对中国汉族人MHC区域SNP rs11966200与寻常型白癜风发病年龄、发病程度、发病类型、家族史以及伴发自身免疫疾病史等临床特征之间的关联性进行分析,从而可以进一步了解MHC区域在白癜风发病过程中所起的作用。 方法本研究通过在病例-病例间(如发病年龄小于等于20岁和发病年龄大于20岁的患者)以及病例-对照间(如发病年龄小于等于20岁以及发病年龄大于20岁的患者与正常对照)分析MHC区域SNP rs11966200的等位基因分布差异从而确定与该位点相关的临床特征。6366例白癜风病例与6582例对照的基因分型(AA,AG,GG)资料均来自本课题组白癜风全基因组关联分析的分型数据。数据资料经过适当转化后,采用社会科学统计软件包SPSS11.0进行分析,P0.05认为有统计学意义。 结果1.发病年龄小于等于20岁和大于20岁的白癜风患者(OR = 1.54, P =2.01E-13);中重度患者(皮损累及体表面积≥5%)与轻度患者(皮损累及体表面积5%)(OR = 1.17, P = 0.025)MHC区域SNP rs11966200等位基因分布差异有统计学意义。 2.病例组与对照组之间等位基因分布有统计学意义。 结论MHC区域rs11966200单核苷酸多态性不仅与中国汉族人群寻常型白癜风易感性相关,而且还可能与寻常型白癜风的发病年龄以及发病程度相关。
[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.鍙戠梾骞撮緞灏忎簬绛変簬20宀佸拰澶т簬20宀佺殑鐧界櫆椋庢偅鑰，

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