年龄相关性黄斑变性与基因单核苷酸多态性的相关性研究

发布时间：2018-03-10 01:05

本文选题：年龄相关性黄斑变性　切入点：单核苷酸多态性　出处：《华中科技大学》2012年硕士论文　论文类型：学位论文

【摘要】：【目的】年龄相关性黄斑变性(age-related macular degeneration, AMD)与基因单核苷酸多态性(single nucleotide polymorphisms, SNPs)的相关性已在其他种族人群中有所报道，由于疾病的易感基因在不同的种族人群中可能存在差异，故在我国大陆汉族人群中研究AMD与SNPs的关系是有必要的，可为探讨中国人群AMD发病机理和基因治疗提供依据。【方法】采用回顾性的病例对照研究设计，采集140例AMD患者和216例无血缘关系的健康对照者的外周静脉血，，提取DNA，运用实时荧光定量PCR检测6个SNPs(rs1410996，rs800292，rs4151667，rs9332739，rs2230199，rs10490924)，使用Logistic回归分析AMD与各个SNPs的相关性及各个SNPs之间的交互作用。【结果】调整了AMD组和对照组的年龄和性别后，LOC387715rs10490924TT增加了AMD的患病风险(P=0.0001, OR:3.46,95%CI:1.84,6.51)；CFHrs800292AA和CFH rs1410996CC在AMD患病中均显示出保护作用，P值、OR值和95%CI分别为(P=0.04, OR:0.48,95%CI:0.24,0.96；P=0.04, OR:0.48,95%CI:0.24,0.98)；然而，CFB rs4151667，C2rs9332739和C3rs2230199与AMD的患病未显示出相关性(P0.05)。单倍型C-A(CFH rs1410996-rs800292)和T-G(CFB rs4151667-C2rs9332739)显示出保护作用，OR值和95%CI分别为0.54(95%CI:0.39,0.75)和0.11(95%CI:0.02,0.50)；单倍型C-G(CFH rs1410996-rs800292)、T-A(CFH rs1410996-rs800292)和A-G(CFB rs4151667-C2rs9332739)则显示可增加AMD的患病风险，OR值和95%CI分别为2.75(95%CI:1.54,4.90)、2.44(95%CI:1.27,4.68)和9.08(95%CI:2.00,41.17)。rs10490924TT和rs800292GG联合作用的OR值为5.74(95%CI:2.09,15.77)。【结论】本次研究发现在中国大陆汉族人群中，LOC387715rs10490924TT是AMD发生的危险因素，rs800292AA和rs1410996CC在AMD患病中均显示出保护作用，而rs4151667，rs9332739和rs2230199与AMD的患病未显示出相关性。基因与基因之间的交互作用可能存在于CFH rs800292与LOC3887715rs10490924之间。
[Abstract]:[objective] the association between age-related macular generation (AMD-related) and single nucleotide polymorphism (SNPs) has been reported in other ethnic groups. Therefore, it is necessary to study the relationship between AMD and SNPs in the Han population of mainland China, which can provide a basis for the study of the pathogenesis and gene therapy of AMD in Chinese population. [methods] Peripheral venous blood was collected from 140 patients with AMD and 216 healthy controls without blood relationship by a retrospective case-control study. Logistic regression analysis was used to analyze the correlation between AMD and SNPs and the interaction between SNPs and six SNPs rs1410996, rs800292rs4151667, rs9332739, rs2230199rs10490924. [results] after adjusting the age and sex of AMD group and control group, LOC387715rs10490924TT increased the risk of AMD P0.0001, OR3.46-95CI1.844-6.51AA and CFH rs1410996CC showed protective effect in AMD disease, OR value and 95 CI value were 0.04, OR0.4895CI0.240.96P0.04, OR0.4895CI0.240.96P0.04, OR0.4895CI0.240.96P0.04, OR0.4895CI0.240.96P0.04, OR0.4895CI0.24895CI0.240.98. The disease showed no correlation (P0.05). Haplotype C-ACFH rs1410996-rs8002) and T-GG CFB rs4151667-C2rs9332739) showed that the OR and 95CI were 0.54 卤95CI 0.390.75) and 0.1195CI0.020.50 respectively; haplotype C-GCFH rs1410996-rs8002) and A-GCFB rs4151667-C2rs93339) showed an increased risk of AMD. [conclusion] this study found that LOC387715rs10490924TT is the risk factor of AMD. Both rs800292AA and rs1410996CC have protective effect on AMD. However, rs4151667 rs9332739 and rs2230199 were not correlated with AMD. The interaction between gene and gene may exist between CFH rs800292 and LOC3887715rs10490924.
【学位授予单位】：华中科技大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R774.5

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