GJB2基因多态性与寻常型银屑病易感性的关联研究

发布时间：2018-06-06 00:24

本文选题：银屑病 + GJB2　；参考：《中南大学》2012年硕士论文

【摘要】：目的本研究以中国南部汉族人群为研究对象,验证银屑病GWAS数据：GJB2基因单核苷酸多态性位点(single nucleotide polymorohism, SNP) rs3751385:TC与寻常型银屑病易感性的相关性,并进一步比较寻常型银屑病患者与健康对照者之间血浆Cx26水平的差异,探讨血浆中Cx26水平与患者病情严重程度的关系。方法 1.应用聚合酶链反应-限制性片段长度多态性(RFLP-PCR)的方法,通过病例-对照关联研究,对371例寻常型银屑病患者和330例健康对照者GJB2基因SNP位点rs3751385进行基因分型。 2.用酶联免疫吸附法(ELISA)检测55例寻常型银屑病患者与65例正常对照者的血浆Cx26水平,并结合病情严重程度进行统计分析。结果 1.病例-对照关联研究显示病例组和对照组中GJB2基因rs3751385位点CC, CT和TT基因型频率分别为21.56%,53.64%,24.80%和36.67%,44.85%,18.48%,两组间基因型的分布存在显著性差异(p=4.99×10-5),病例组C等位基因频率较对照组显著降低(p=6.02X10-5, Odds ratio [OR]=0.793,95%confidence interval (CI):0.706-0.889)。 2.寻常型银屑病患者组血浆Cx26水平较正常对照组显著下降(p=1.96×10-5),且与PASI评分呈负相关(r=-O.247,p=0.036)。结论 1.GJB2基因rs3751385:CT与中国南部汉族人群寻常型银屑病的易感性相关。 2.寻常型银屑病患者血浆Cx26水平较健康者显著降低,且与病情严重程度呈负相关。
[Abstract]:Purpose The aim of this study was to investigate the association between GWAS data of psoriasis and susceptibility to psoriasis vulgaris. The differences of plasma Cx26 levels between psoriasis vulgaris patients and healthy controls were further compared to explore the relationship between plasma Cx26 levels and severity of the disease. Method 1. Polymerase chain reaction-restriction fragment length polymorphism (RFLP-PCR) was used to type the GJB2 SNP locus rs3751385 in 371 patients with psoriasis vulgaris and 330 healthy controls by a case-control association study. 2. The plasma Cx26 levels in 55 patients with psoriasis vulgaris and 65 normal controls were detected by Elisa and the severity of the disease was analyzed statistically. Result 1. Case-control study showed that the frequencies of rs3751385 locus CCC, CT and TT of GJB2 gene in case group and control group were 21.56%, 53.64% and 36.6785%, respectively. There was a significant difference in the distribution of genotype between the two groups. The frequency of C allele in the case group was higher than that in the control group, and the frequency of C allele in the case group was higher than that in the control group. The Odds ratio [OR] was 0.79395 and the confidence interval was 0.706-0.8890.0.706-0.889%, 0.706-0.889, 0.706-0.889, 0.706-0.889, 0.706-0.889, 0.706-0.889, 0.706-0.889 respectively. 2. The plasma Cx26 level in psoriasis vulgaris group was significantly lower than that in normal control group (1.96 脳 10 ~ (-5) and negatively correlated with PASI score. Conclusion 1.GJB2 gene rs3751385:CT is associated with susceptibility to psoriasis vulgaris in the Han population in southern China. 2. Plasma Cx26 levels in psoriasis vulgaris were significantly lower than those in healthy controls, and were negatively correlated with the severity of the disease.
【学位授予单位】：中南大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R758.63

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