血管内皮生长因子受体1基因单核苷酸多态性及吸烟与宁夏地区汉族、回族年龄相关性黄斑变性的相关性  

Associations of single nucleotide polymorphisms of VEGFRI and smoking with age-related macular degeneration in Hui and Han populations from Ningxia region in China

作　　者：向伟[1] 迟昊[1] 薛中淇 张雯[1] 盛迅伦[2] 庄文娟[2] 

机构地区：[1]宁夏医科大学临床医学院,银川750004 [2]宁夏回族自治区人民医院眼科宁夏眼科医院,银川750001

出　　处：《中华实验眼科杂志》2016年第6期534-540,共7页Chinese Journal Of Experimental Ophthalmology

基　　金：国家重点基础研究发展计划973课题项目（2011CB510200）;国家自然科学基金项目（81460093）;宁夏自治区对外科技合作项目（2014ZYH65）

摘　　要：背景 年龄相关性黄斑变性（AMD）是引起中心视力进行性退变的一类遗传病.研究证明,在不同群体中,血管内皮生长因子受体l（VEGFR1）基因多态性和AMD的发生有关联,但这些结果在不同的种族和地区却不相同. 目的 探讨VEGFR1基因单核苷酸多态性（SNPs）及吸烟与宁夏地区汉族、回族AMD的关联.方法 本研究采取病例对照关联分析的方法,收集2011年3月至2015年6月宁夏地区无亲缘关系的AMD患者432例作为AMD组,其中汉族325例,回族107例,并纳入同期中度年龄相关性白内障患者906例作为对照组,其中汉族698例,回族208例.采集所有受检者静脉血5 ml,提取全基因组DNA,筛选出VEGFR1基因上rs2281827、rs3936415、rs7337610、rs7981680、rs9554320、rs9554322、rs9582036和rs9943922共8个标签SNPs,利用MassARRAYTM飞行时间质谱系统对受检者各SNPs基因型进行分型.采用卡方检验和多因素Logistic回归分析法分析和比较汉族与回族AMD患者各位点等位基因频率及基因型频率分布情况.结果 宁夏地区汉族与回族AMD组与对照组间年龄比较差异均有统计学意义（汉族：P=0.000;回族：P=0.009）;汉族AMD组与对照组间吸烟患者比例差异有统计学意义（P=0.000）,吸烟是宁夏地区汉族AMD发病的风险因素[优势比（OR）=2.622,95％可信区间（CI）：1.899 ～3.619].汉族和回族间AMD患者各SNPs位点等位基因频率比较差异均无统计学意义（均P＞0.05）,各种族AMD组与对照组间rs7337610和rs9554322SNPs基因型分布及等位基因频率的比较差异均有统计学意义（均P=0.00）,在汉族AMD组与对照组间rs9582036和rs9943922基因型分布比较差异均有统计学意义（P=0.002、0.00）.回族AMD组与对照组间rs7337610、rs9554322基因型分布及等位基因频率分布差异均有统计学意义（均P=0.00）,其中rs7337610的C等位基因是汉族和回族AMD发病的保护因素（OR=0.354,95％ CI：0.288 ～0.435;OR=0.446,95�Background Age-related macular degeneration （AMD） is a heritable,progressive degenerative disorder that triggers central visual impairment.Research demonstrated that the single nucleotide polymorphisms （SNPs） of vascular endothelial growth factor 1 （VEGFR1） gene is associated with AMD in different population.However,the results varied among diversified ethnic origin composition and distinct regions.Objective This study was to investigate the associations between the SNPs of VEGFR1 genetic variants along with smoking exposure and the risk of AMD in Hui and Han ethnics in the Ningxia population in China.Methods A case-control study was conducted.Four hundreds and thirty-two AMD patients including 325 Han ethnic patients and 107 Hui ethnic patients were recruited from March 2011 to June 2015,and 906 ethnicity-and gender-matched age-related cataract patients were contemporaneously recruited as control group,including 698 Han ethnic patients and 208 Hui ethnic patients.Periphery blood sample of 5 ml was collected from the subjects and genomic DNA was prepared.Eight tagging SNPs loci were acquired to cover rs2281827,rs3936415,rs7337610,rs7981680,rs9554320,rs9554322,rs9582036 and rs9943922,and the genotypes of SNPs were detected by using MassARRAYTM time-of-flight mass spectrometry system.Chi-square test and multi-factor Logistic regression analysis were utilized to estimate the discrepancy of allele frequency and genotype distribution in Hui and Han AMD patients.Moreover,the correlation of AMD with smoking and age statue were further analyzed.This study protocol complied with Helsinki Declaration and was approved by Ethic Committee of Ningxia Eye Hospital.Written informed consent was obtained before any relevant medical examination.Results There were significant differences in the age between AMD group and control group in both Han and Hui ethnicity （Han：P =0.000;Hui：P =0.009）.The smoking exposure was significantly different between AMD group and control group in Han ethnicity （P =0.000）,and smo

关 键 词：血管内皮生长因子受体1/基因 年龄相关性黄斑变性/民族 单核苷酸多态性/基因 危险因素 优势比 遗传易感性疾病 等位基因 吸烟/不利影响 病例对照研究 

分 类 号：R774.5[医药卫生—眼科]