CLEC16A基因多态与中国人Vogt-小柳原田综合征和Behcet’s病相关性研究

发布时间：2018-03-19 08:32

本文选题：CLEC16A基因　切入点：单核苷酸多态(SNP)　出处：《重庆医科大学》2015年博士论文　论文类型：学位论文

【摘要】：目的：Vogt-Koyanagi-Harada (VKH)综合征和Behcet's病(BD)是中国人中最常见的两种葡萄膜炎,其临床表现为眼部的全葡萄膜炎、前部或中间葡萄膜炎,有些病人也伴有全身多器官受累。C型凝集素家族16,成员A基因(CLEC16A),是C型凝集素超家族中的新成员之一。本文将探讨CLEC16A基因多态与VKH综合征及Behcet's病的相关性,以及这些多态性与这两种疾病全身的临床表现、性别、年龄之间的相关性,以期寻找到与此两种疾病相关的基因多态。方法：选取CLEC16A基因的8个SNP,包括：rs12708716,rs2903692, rs6498169, rs725613, rs17673553, rs2080272, rs998592和rs2041670,采用聚合酶链反应-限制性片段长度多态性方法(PCR-RFLP)进行基因分型。研究结果等位基因及基因型频率分析用χ2分析或Fisher's精确概率分析方法,并用Bonferroni校正法校正。结果：第一阶段实验的研究结果显示VKH患者的rs6498169位点的A等位基因频率明显低于对照组(Pc=1.1×10-2, OR=0.7, 95%CI=0.6-0.9)。BD病人和正常对照比较,基因型及等位基因频率均未发现显著性差异。第二阶段实验中我们增加600例VKH患者进一步分析CLEC16A基因的rs6498169位点和VKH的相关性。两部分实验数据综合分析后的数据显示：在VKH患者中rs6498169位点的AA基因型及A等位基因频率均显著降低(Pc=3.5×10-4, OR=0.6, 95%CI=0.5～0.7; Pc=8.2×10-4, OR=0.8,95%CI=0.7～0.9)。其余7个SNP位点未发现等位基因及基因型频率在VKH病例和正常对照比较有显著差异。结论：本研究结果表明,在中国人中CLEC16A基因多态可能是VKH综合征的保护性因素。
[Abstract]:Objective: Vogt-Koyanagi-Harada syndrome and Behcet's disease are the two most common uveitis in Chinese. Some patients also have multiple organ involvement. Type C lectin family 16, a member of the A gene, is a new member of the C-type lectin superfamily. This article will explore the association between polymorphism of CLEC16A gene and VKH syndrome and Behcet's disease. And the association between these polymorphisms and the clinical manifestations, gender, age of the two diseases, Methods: eight SNPs of the CLEC16A gene were selected, including: 1 / rs12708716 / rs2903692, rs64981699, rs725613, rs17673553, rs2080272, rs998592 and rs2041670, respectively. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to carry out the genotyping. Results the allele and genotype frequencies were analyzed by 蠂 2 analysis or Fisher's accurate probability analysis. Results: the frequency of A allele at rs6498169 locus in patients with VKH was significantly lower than that in control group (P < 0.01 脳 10 ~ (-2)). There was no significant difference in genotype and allelic frequency. In the second stage, we added 600 patients with VKH to further analyze the correlation between rs6498169 locus and VKH of CLEC16A gene. The results showed that the frequencies of AA genotype and A allele at rs6498169 locus in VKH patients were significantly lower than those in VKH patients (3.5 脳 10 ~ (-4), 0.6, 95CI = 0.50.70; Pc=8.2 脳 10 ~ (-4), 0.88 ~ (95) CI = 0.79%). There was no significant difference in alleles and genotype frequencies between VKH cases and normal controls in the other 7 SNP loci. Conclusion: the results of this study indicate that. Polymorphism of CLEC16A gene may be the protective factor of VKH syndrome in Chinese.
【学位授予单位】：重庆医科大学
【学位级别】：博士
【学位授予年份】：2015
【分类号】：R773.9

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