title: Association of genetic polymorphisms and age-related macular degeneration in Chinese population.
abstract: OBJECTIVE
  We explored associations between age-related macular degeneration (AMD) and genetic variants of 10 genes in a nationwide Chinese population.
  
  
  METHODS
  In this multicenter case-control study, 535 AMD patients and 469 controls were recruited from 16 centers that spread from the north to the south of China. All participants underwent comprehensive eye examinations, and 40 single nucleotide polymorphisms (SNPs) of 10 genes were selected. DNA samples were genotyped with the MassArray system. The effect of the genotypes and haplotypes on AMD was assessed with logistic regression analysis, adjusted for age, sex, long-term residence, and family origin.
  
  
  RESULTS
  In our study, 11 SNPs in complement H (CFH), 2 in age-related maculopathy susceptibility 2 (ARMS2), and 2 in high-temperature requirement factor A1 (HTRA1) were associated significantly with AMD. They were rs551397, rs800292, rs1329424, rs1061170, rs10801555, rs12124794, rs10733086, rs10737680, rs2274700, rs1410996, and rs380390 in CFH; rs10490924 and rs2736912 in ARMS2; and rs11200638 and rs3793917 in HTRA1. Three haplotypes in CFH, predisposed the patients significantly to AMD (P<0.001, P=0.001, and P<0.001, respectively). With the sample size of our study, no relationship was found for AMD and the SNPs tested in complement 3 (C3); serpin peptidase inhibitor, clade G, member 1 (SERPING1); vascular endothelial growth factor (VEGF); cholesterol ester transfer protein (CETP); lipoprotein lipase (LPL); hepatic lipase (LIPC); and metallopeptidase inhibitor 3 (TIMP3) genes.
  
  
  CONCLUSIONS
  Gene variants in CFH, ARMS2, and HTRA1 contribute to AMD in the Chinese population.
authors.affiliation: Department of Epidemiology & Biostatistics, School of Public Health, Peking University Health Science Center, and Department of Ophthalmology, Peking University People's Hospital, Beijing, People's Republic of China.
authors.forename: Jun
authors.initials: J
authors.lastname: Tian
authors.forename: Wenzhen
authors.initials: W
authors.lastname: Yu
authors.forename: Xueying
authors.initials: X
authors.lastname: Qin
authors.forename: Kai
authors.initials: K
authors.lastname: Fang
authors.forename: Qing
authors.initials: Q
authors.lastname: Chen
authors.forename: Jing
authors.initials: J
authors.lastname: Hou
authors.forename: Juan
authors.initials: J
authors.lastname: Li
authors.forename: Dafang
authors.initials: D
authors.lastname: Chen
authors.forename: Yonghua
authors.initials: Y
authors.lastname: Hu
authors.forename: Xiaoxin
authors.initials: X
authors.lastname: Li
mesh_terms: D000368:Aged; D002681:China / Q000453:epidemiology; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011379:Prognosis
chemical_list: D005136:Eye Proteins