title: RAD51 gene is associated with advanced age-related macular degeneration in Chinese population.
abstract: OBJECTIVE
  This study aims to investigate whether variations in RAD51, B3GALTL, TNFRSF10A and REST-C4ORF14-POLR2B-IGFBP7 are associated with advanced forms of age-related macular degeneration (AMD) in Chinese population.
  
  
  METHODS
  A total of 119 Chinese patients with AMD and 99 control individuals were recruited. Genomic DNA was extracted from peripheral blood leukocytes. Seven single nucleotide polymorphisms (SNPs) from CFH, HTRA1, RAD51, B3GALTL, TNFRSF10A and REST-C4ORF14-POLR2B-IGFBP7 were genotyped by polymerase chain reaction (PCR) followed by allele-specific restriction enzyme digestion or SNaPshot.
  
  
  RESULTS
  Rs10483810 in RAD51 was significantly associated with advanced AMD (P=0.045). Compared with the wild-type genotype GG, the odds ratio for the risk of advanced AMD was 4.92 (95% confidence interval: 1.04-23.36) for the heterozygous TG genotype. Moreover, the GT genotype at rs10483810 confers significantly increased risk of bilateral AMD compared to unilateral AMD (OR=12.04, 95% CI: 2.50-57.69, P=0.002). Rs13278062 in TNFRSF10A, rs1713985 in REST-C4ORF14-POLR2B-IGFBP7 and rs9542236 in B3GALTL were not found to be associated with AMD (all P>0.05).
  
  
  CONCLUSIONS
  Our data suggested that the risk allele T of rs10483810 in RAD51 gene is associated with an increased risk of advanced AMD, especially bilateral AMD, in Chinese population.
authors.affiliation: Molecular Medicine Research Center, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu 610041, China; Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu 610041, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Zhou
authors.forename: Dan
authors.initials: D
authors.lastname: Wang
authors.forename: Junjun
authors.initials: J
authors.lastname: Zhang
authors.forename: Meixia
authors.initials: M
authors.lastname: Zhang
authors.forename: Fang
authors.initials: F
authors.lastname: Lu
authors.forename: Guoxian
authors.initials: G
authors.lastname: Qiu
authors.forename: Ling
authors.initials: L
authors.lastname: Zhao
authors.forename: Duy H
authors.initials: DH
authors.lastname: Nguyen
authors.forename: Hongrong
authors.initials: H
authors.lastname: Luo
authors.forename: Guiqun
authors.initials: G
authors.lastname: Cao
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.forename: Wei
authors.initials: W
authors.lastname: Jiang
authors.forename: Gen
authors.initials: G
authors.lastname: Li
authors.forename: Kang
authors.initials: K
authors.lastname: Zhang
authors.forename: Ming
authors.initials: M
authors.lastname: Zhang
authors.forename: Zhiguang
authors.initials: Z
authors.lastname: Su
mesh_terms: D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D051135:Rad51 Recombinase / Q000235:genetics*
chemical_list: C495153:RAD51 protein, human; D051135:Rad51 Recombinase
keywords: Age-related macular degeneration; Genetic polymorphism; RAD51