Toll样受体3基因单核苷酸多态性与湿性年龄相关性黄斑变性的关联研究  

Association of polymorphisms of toll-like receptor 3 and wet age-related macular degeneration

作　　者：胡健艳[1] 杨晓钊[2] 管怀进[1] 庹旌生[1] 

机构地区：[1]南通大学附属医院眼科,江苏省南通市226001 [2]西安市第一医院眼科,陕西省西安市710002

出　　处：《眼科新进展》2010年第4期355-357,共3页Recent Advances in Ophthalmology

基　　金：江苏省医学重点学科基金资助(编号:XK200724)~~

摘　　要：目的分析中国平原地区汉族人群Toll样受体3(toll-like receptor3,TLR3)基因单核苷酸多态性(single nucleotide polymorphisms,SNP)的基因型分布,探讨该基因SNP与湿性年龄相关性黄斑变性(age-related macular degeneration,AMD)的相关关系。方法本研究是以医院病例资料为基础的对照研究。收集南通大学附属医院确诊的湿性AMD患者109例(病例组)及同一地区正常对照150例(对照组),采用TaqMan-MGB荧光探针法检测TLR3外显子4片段上SNP位点Leu412Phe(rs3775291),比较两组等位基因及基因型的频率分布。结果在平原地区汉族人群中TLR3基因Leu412Phe存在三种基因型(CC、CT、TT),其分布频率分别为48.7%、44.0%、7.3%。病例组与对照组年龄、性别、吸烟情况差异均无统计学意义(均为P>0.05),两组具有可比性。病例组的基因型频率分别为CC57.8%、CT34.9%、TT7.3%,同对照组相比差异均无统计学意义(均为P>0.05)。病例组等位基因T的频率低于对照组(分别为25%和29%),但2组差异无统计学意义(P=0.25)。结论中国平原地区汉族人群中TLR3基因的SNP位点rs3775291与湿性AMD的发生无明显相关性。Objective To investigate the genotype distribution of single nucleotide polymorphisms（SNP）in toll-like receptor 3（TLR3）in Chinese Han population of plain area and explore the association of SNP and wet age-related macular degeneration（AMD）.Methods Hospital-based case control study was taken.Wet AMD patients（109 cases,case group）diagnosed in Affiliated hospital of Nantong University and matched controls of Han Chinese（150 people,control group）were recruited in this study.SNP Leu412Phe（rs3775291）in exon4 of TLR3 was genotyped by TaqMan-MGB probe using the real-time PCR system.Frequencies of C/T allele and CC/CT/TT genotype were compared between case group and control group.Results CC,CT and TT were the 3 genotypes of TLR3 Leu412Phe in Han Chinese of plain area,genotype frequencies were 48.7%,44.0% and 7.3%,respectively.There was no statistical difference in age,genders and smoking between case group and control group（All P0.05）.There was comparability between the two groups.Frequencies of the genotype in case group were 57.8%,34.9% and 7.3% for CC,CT and TT,respectively,showing no significance comparing with the control group（All P0.05）.The T allele frequency in the case group was 25% lower than 29% in control group,but no significance was found between case group and control group（P=0.25）.Conclusion SNP rs3775291 in TLR3 is not associated with wet AMD in the Chinese Han population of plain area.

关 键 词：年龄相关性黄斑变性 TOLL样受体3 单核苷酸多态性 中国汉族人群 

分 类 号：R774.5[医药卫生—眼科]