本文選題：年齡相關性黃斑變性　切入點：單核苷酸多態(tài)性　出處：《華中科技大學》2012年碩士論文　論文類型：學位論文

【摘要】：【目的】年齡相關性黃斑變性(age-related macular degeneration, AMD)與基因單核苷酸多態(tài)性(single nucleotide polymorphisms, SNPs)的相關性已在其他種族人群中有所報道，由于疾病的易感基因在不同的種族人群中可能存在差異，故在我國大陸漢族人群中研究AMD與SNPs的關系是有必要的，可為探討中國人群AMD發(fā)病機理和基因治療提供依據(jù)。 【方法】采用回顧性的病例對照研究設計，采集140例AMD患者和216例無血緣關系的健康對照者的外周靜脈血，，提取DNA，運用實時熒光定量PCR檢測6個SNPs(rs1410996，rs800292，rs4151667，rs9332739，rs2230199，rs10490924)，使用Logistic回歸分析AMD與各個SNPs的相關性及各個SNPs之間的交互作用。 【結(jié)果】調(diào)整了AMD組和對照組的年齡和性別后，LOC387715rs10490924TT增加了AMD的患病風險(P=0.0001, OR:3.46,95%CI:1.84,6.51)；CFHrs800292AA和CFH rs1410996CC在AMD患病中均顯示出保護作用，P值、OR值和95%CI分別為(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與AMD的患病未顯示出相關性(P0.05)。單倍型C-A(CFH rs1410996-rs800292)和T-G(CFB rs4151667-C2rs9332739)顯示出保護作用，OR值和95%CI分別為0.54(95%CI:0.39,0.75)和0.11(95%CI:0.02,0.50)；單倍型C-G(CFH rs1410996-rs800292)、T-A(CFH rs1410996-rs800292)和A-G(CFB rs4151667-C2rs9332739)則顯示可增加AMD的患病風險，OR值和95%CI分別為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聯(lián)合作用的OR值為5.74(95%CI:2.09,15.77)。 【結(jié)論】本次研究發(fā)現(xiàn)在中國大陸漢族人群中，LOC387715rs10490924TT是AMD發(fā)生的危險因素，rs800292AA和rs1410996CC在AMD患病中均顯示出保護作用，而rs4151667，rs9332739和rs2230199與AMD的患病未顯示出相關性。基因與基因之間的交互作用可能存在于CFH rs800292與LOC3887715rs10490924之間。
[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 鹵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.
【學位授予單位】：華中科技大學
【學位級別】：碩士
【學位授予年份】：2012
【分類號】：R774.5

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