单核苷酸多态性rs2236313与汉族人寻常型白癜风表型的相关性研究

发布时间：2018-03-26 14:37

本文选题：白癜风　切入点：rs2236313　出处：《安徽医科大学》2011年硕士论文

【摘要】：背景白癜风(OMIM, #193200)是一种由于选择性黑色素细胞的破坏导致的皮肤和毛发的黑色素紊乱性疾病,在不同种族和地区发病率从0.1%到2.9%不等。白癜风的发病有许多病因学理论,包括黑素细胞自身破坏学说、生化学说、神经起源学说、自身免疫学说、遗传学说等,但具体的原因仍然不清楚。白癜风的发生可能有共同的遗传背景和环境因素。Pubmed数据库共收录了92个白癜风易感基因位点:HLA-A, HLA-B, HLA-C, SLEV1, VTLG, Mitf, AIS3,FBXO11, VIT1, NLRP1, PTPN22, TYR等。白癜风是一种复杂疾病,呈非孟德尔遗传模式,具有较强的种族差异和遗传异质性。在我们团队先前的全基因关联分析研究中,证明了rs2236313与中国汉族人白癜风相关,它位于染色体6q27上,该区域包含有RNASET2、FGFR1OP和CCR6等基因,rs2236313与这三个基因相关。这为白癜风的遗传学研究提供了一个新视野。为了研究该SNP点与寻常型白癜风表型的相关性,我们这里进行了白癜风基因型表型分析。目的探讨位于染色体6q27上的一个单核苷酸多态性(single nucleotide polymorphism, SNP)位点rs2236313与汉族人寻常型白癜风临床表型的相关性。方法在我们先前的全基因关联分析研究中(Genome-Wide Association Study, GWAS)选取6 458例寻常型白癜风患者和9 766例正常对照的rs2236313的基因分型(CC,CT,TT)资料和临床资料;用χ~2检验对各组间基因型和等位基因频率的分布进行比较。结果Rs2236313基因型频率和等位基因频率分布在病例组和对照组间存在显著性差异(P基因型=8.21×10~(-14), P等位基因=1.26×10~(-14))。早发患者和晚发患者,有伴发疾病患者和无伴发疾病患者之间的等位基因频率分布在统计学上有显著性差异(P0.05);家族史阳性患者和家族史阴性,轻度患者与中重度患者之间的基因型和等位基因频率分布无显著性差异(P0.05)。结论Rs2236313与汉族人寻常型白癜风易感性相关联,且与发病年龄、伴发疾病显著相关,但与家族史、病情严重程度无显著相关。
[Abstract]:Background OMIM (#193200) is a disorder of melanin in skin and hair caused by the destruction of selective melanocytes. The incidence of vitiligo varies from 0.1% to 2.9% in different races and regions. There are many etiological theories on the pathogenesis of vitiligo. Including melanocyte self-destruction theory, biochemical theory, neural origin theory, autoimmune theory, genetics theory, etc. The cause of vitiligo may have a common genetic background and environmental factors. Pubmed database contains 92 vitiligo susceptibility gene loci: HLA-A, HLA-B, HLA-CSLEV1, VTLGG, Mitf, AIS3FBXO11, VIT1, NLRP1, PTPN22, TYR, etc. There is a non-Mendelian genetic pattern with strong ethnic differences and genetic heterogeneity. In our team's previous gene association analysis, it was demonstrated that rs2236313 is associated with vitiligo in Han Chinese, which is located on chromosome 6q27. The region contains RNASET2FGFR1OP and CCR6 genes, rs2236313, which provide a new perspective for the genetic study of vitiligo, in order to study the association between the SNP site and the phenotype of vitiligo vulgaris. We performed a phenotypic analysis of vitiligo genotypes here. Objective to investigate the relationship between a single nucleotide polymorphism (SNPs) locus located on chromosome 6q27 and clinical phenotype of vitiligo vulgaris in Han nationality. Methods Genome-Wide Association study (GWAS) was performed in 6 458 patients with vitiligo vulgaris and 9 766 normal controls. The distribution of genotype and allele frequency was compared by 蠂 2 test. Results there were significant differences in the frequency of Rs2236313 genotypes and alleles between the two groups. The P genotype was 8.21 脳 10 ~ (-14) and the P allele was 1.26 脳 10 ~ (10) ~ (-14). The frequency distribution of alleles in patients with and without associated diseases was statistically significant difference (P 0.05), and the family history was positive and family history was negative, there were significant differences in the frequency distribution of alleles between the patients with and without the disease. There was no significant difference in genotype and allele frequency distribution between mild and moderate severe patients (P 0.05). Conclusion Rs2236313 is associated with susceptibility to vitiligo vulgaris in Han nationality, and is significantly associated with onset age and associated disease, but not with family history and severity.
【学位授予单位】：安徽医科大学
【学位级别】：硕士
【学位授予年份】：2011
【分类号】：R758.41

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