title: Association of specific genetic polymorphisms with age-related macular degeneration in a northern Chinese population.
abstract: OBJECTIVE
  The associations between genetic variants located in CFH, CFB, ARMS2 and HTRA1 and the risk of age-related macular degeneration (AMD) in a northern Chinese population were investigated.
  
  
  METHODS
  A case-control association study of 150 AMD patients and 145 ethnicity- and gender-matched controls were recruited. Genomic DNA was prepared from peripheral blood after the participants underwent comprehensive eye examinations. All individuals were genotyped for eight single nucleotide polymorphisms (SNPs) in four specific genes. Genotypic distribution was tested for Hardy-Weinberg equilibrium. Statistical analysis was performed for genotype, allele and haplotype frequencies along with their p values and corresponding odds ratios (OR), 95% confidence intervals (95% CI) and measures of linkage disequilibrium (LD). Bonferroni corrections for multiple comparisons were performed.
  
  
  RESULTS
  Among the SNPs genotyped, p values of seven SNPs were less than 0.05 in the genotypic distributions and allele frequencies between AMD and control subjects. However, after Bonferroni correction, the genotype and allele distributions of two SNPs in CFH (rs10737680, rs1410996), one SNP (rs10490924) in ARMS2 and one SNP (rs11200638) in HTRA1 differed significantly between the controls and AMD patients. Two SNPs were significantly associated with AMD in the allele distributions. They were rs800292 (p(allele) = 0.006, OR [CI] = 1.643[1.155-2.336]) in CFH and rs641153 (p(allele) = 0.002, OR [CI] = 0.273[0.120-0.620]) in CFB. Five haplotypes in CFH significantly predisposed patients to AMD after 50,000 permutations (p = 0.0099, p = 0.0099, p = 0.0013, p = 0.0414 and p = 0.0327).
  
  
  CONCLUSIONS
  Gene variants in CFH, ARMS2 and HTRA1 are related to an increased risk of AMD in a northern Chinese population.
authors.affiliation: Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region , Yinchuan , China .
authors.forename: Wenjuan
authors.initials: W
authors.lastname: Zhuang
authors.forename: HuiPing
authors.initials: H
authors.lastname: Li
authors.forename: Yani
authors.initials: Y
authors.lastname: Liu
authors.forename: Jingjing
authors.initials: J
authors.lastname: Zhao
authors.forename: Shaoping
authors.initials: S
authors.lastname: Ha
authors.forename: Wei
authors.initials: W
authors.lastname: Xiang
authors.forename: Xuewei
authors.initials: X
authors.lastname: Bai
authors.forename: Zili
authors.initials: Z
authors.lastname: Li
authors.forename: Ying
authors.initials: Y
authors.lastname: Han
authors.forename: Xunlun
authors.initials: X
authors.lastname: Sheng
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D011415:Complement Factor B / Q000235:genetics; D017242:Complement Factor H / Q000235:genetics; D005260:Female; D060005:Genotyping Techniques; D000074289:High-Temperature Requirement A Serine Peptidase 1; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics*; D012697:Serine Endopeptidases / Q000235:genetics*
chemical_list: C514392:ARMS2 protein, human; C493495:CFH protein, human; D011506:Proteins; D017242:Complement Factor H; D000074289:High-Temperature Requirement A Serine Peptidase 1; C474012:HTRA1 protein, human; D012697:Serine Endopeptidases; D011415:Complement Factor B
keywords: Age-related macular degeneration; genetic polymorphisms; specific gene