title: Haplotypes of RHO polymorphisms and susceptibility to age-related macular degeneration.
abstract: OBJECTIVE
  To investigate whether haplotypes of rhodopsin (RHO) polymorphisms including rs7984, rs2855552, rs2855557 and rs2410 were associated with age-related macular degeneration (AMD) risk in Chinese Han population.
  
  
  METHODS
  Genotypes of rs7984, rs2855552, rs2855557 and rs2410 were detected with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 186 cases and 196 healthy controls. Then, the haplotypes were established with Haploview 4.2 software. And the effects of clinical charactersitics on the frequency of GTTG haplotype were also analyzed. Odds ratios (ORs) with 95% confidence interval (95% CI) were utilized to assess the relationship of haplotypes and genotypes of RHO polymorphisms with susceptibility to AMD.
  
  
  RESULTS
  Genotype distribution of all polymorphisms in control group were all in agreement with Hardy-Weinberg equilibrium (HWE) (P>0.05). In the analysis, we found that mutant alleles of rs7984 and rs2855557 were both associated with increased risk of AMD. For genotype analysis, rs7984 AA and rs2855557AA, rs2410GG genotypes all could increase the risk for AMD (OR=1.905, 95% CI=1.143-3.174; OR=2.226, 95% CI=1.261-3.932; OR=2.073, 95% CI=1.105-3.888). However, rs2855552 showed no effects on the onset of AMD. Compared with GTTA, the haplotypes of GGTG, ATAA and GTTG were all related with AMD susceptibility. Further analysis suggested that age, hypertension and hyperlipidemia history play important roles in the frequency alteration of GTTG haplotype.
  
  
  CONCLUSIONS
  RHO polymorphisms (rs7984, rs2855557 and rs2410) and haplotypes may confer remarkable susceptibility to AMD. Further investigation showed that gene and environmental factors may work together in the pathogenesis of AMD.
authors.affiliation: Department of Ophthalmology, General Hospital of People's Liberation Army Beijing 100853, China.
authors.forename: Kun
authors.initials: K
authors.lastname: Tang
authors.affiliation: Department of Radiology, General Hospital of Beijing Command of PLA Beijing 100700, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.affiliation: Department of Ophthalmology, General Hospital of People's Liberation Army Beijing 100853, China.
authors.forename: Qun
authors.initials: Q
authors.lastname: Wang
authors.affiliation: Department of Ophthalmology, General Hospital of People's Liberation Army Beijing 100853, China.
authors.forename: Liqiang
authors.initials: L
authors.lastname: Wang
authors.affiliation: Department of Ophthalmology, General Hospital of Beijing Command of PLA Beijing 100700, China.
authors.forename: Hua
authors.initials: H
authors.lastname: Bai
authors.affiliation: Department of Ophthalmology, The second Artillery General Hospital Beijing 100088, China.
authors.forename: Yanming
authors.initials: Y
authors.lastname: Jiang
authors.affiliation: Department of Ophthalmology, General Hospital of People's Liberation Army Beijing 100853, China.
authors.forename: Yifei
authors.initials: Y
authors.lastname: Huang
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*
chemical_list: D012243:Rhodopsin
keywords: Rhodopsin; age-related macular degeneration; haplotype; polymorphism