中国汉族原发性闭角型青光眼患者候选基因的SNPs位点与疾病的相关性分析

发布时间：2019-02-25 20:48

【摘要】：目的：本实验的目的是研究Vav2基因和Vav3基因以及MMP-9基因的单核苷酸多态性位点与中国汉族人群中原发性闭角型青光眼（Primaryangle-closure glaucoma，PACG）的遗传性是否有联系。方法：214名原发性闭角型青光眼患者和224名性别和种族匹配的健康对照者纳入到本病例对照研究中。6个单核苷酸多态（the singlenucleotide polymorphisms, SNPs）位点：rs2156323（Vav2），， rs2801219（Vav3），rs3918249、rs3918254、 rs17577以及rs3787268（MMP-9）的基因分型用聚合酶链反应的限制性片段长度多态性分析（polymerasechain reaction restriction fragment length polymorphism，PCR-RFLP）。这六个基因位点的多态性与PACG遗传性之间的关系用卡方检验来评价。结果：共有214名PACG患者和224名健康对照者纳入研究。所有健康人的基因型分布均符合哈德温伯格平衡(Hardy Weinberg Equilibrium,HWE, p0.05)。rs3918254中的CC型和CT型的分布在PACG患者中较健康对照者高（P=0.006, P corrected (Pc)=0.048）。单体型分析表明CCGG型与PACG有表面上的相关（P=0.015），但校正以后就不相关性了（Pc=0.105）。其余位点的等位基因频率和基因型频率的分布在PACG患者和正常对照者之间均没有差异。结论：我们的结果表明MMP-9基因中的rs3918254可能是中国PACG患者的易感基因位点，带有rs3918254中的CC型和CT型的人更易患PACG。中国汉族PACG患者的发病可能不受MMP-9中的rs3918249,rs3787268和rs17577基因位点以及rs2156323（Vav2）和rs2801219（Vav3）的影响。Vav2和Vav3基因可能不是中国汉族PACG患者的易感基因。
[Abstract]:Aim: to investigate whether the single nucleotide polymorphism sites of Vav2 gene, Vav3 gene and MMP-9 gene are associated with the heredity of primary angle closure glaucoma (Primaryangle-closure glaucoma,PACG) in Chinese Han population. Methods: 214patients with primary angle closure glaucoma and 224 sex and race matched healthy controls were enrolled in this case control study. Six single nucleotide polymorphism (the singlenucleotide polymorphisms, SNPs) loci: rs2156323 (Vav2), rs2801219 (Vav3), rs3918249,rs3918254, The genotyping of rs17577 and rs3787268 (MMP-9) was analyzed by polymerase chain reaction (PCR) restriction fragment length polymorphism (polymerasechain reaction restriction fragment length polymorphism,PCR-RFLP). The relationship between the polymorphism of these six loci and PACG heredity was evaluated by chi-square test. Results: a total of 214 PACG patients and 224 healthy controls were enrolled in the study. The distribution of CC and CT genotypes in PACG patients was higher than that in healthy controls (P < 0. 006, P corrected (Pc) = 0.048). The distribution of CC and CT genotype was higher in all healthy people than that in healthy controls (P < 0. 006, P corrected (Pc) = 0.048). The distribution of CC and CT genotype in rs3918254 was higher than that in healthy controls (P < 0.048). Haplotype analysis showed that there was a surface correlation between CCG type and PACG (P < 0. 015), but it was not correlated (Pc=0.105) after correction. There was no difference in allele frequency and genotype frequency between PACG patients and normal controls. Conclusion: our results suggest that rs3918254 in MMP-9 gene may be a susceptible gene locus in Chinese PACG patients, and those with CC and CT genotypes in rs3918254 are more likely to develop PACG.. The pathogenesis of PACG in Chinese Han nationality may not be affected by rs3918249,rs3787268 and rs17577 loci in MMP-9, rs2156323 (Vav2) and rs2801219 (Vav3). Vav2 and Vav3 genes may not be susceptible genes in Chinese Han people with PACG.
【学位授予单位】：重庆医科大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R775.2

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