title: CX3CR1 polymorphisms and the risk of age-related macular degeneration.
abstract: BACKGROUND
  Age-related macular degeneration (AMD), a most common eye disease, can lead to irreversible visual impairment. Age, genetic and environmental factors have been implicated in AMD. Chemokine (C-X3-C motif) receptor 1 (CX3CR1) gene polymorphisms could influence the susceptibility of AMD.
  
  
  METHODS
  We tested the association between AMD and single nocleotide polymorphisms (SNPs) of CX3CR1 gene (rs3732378 and rs3732379) in 102 cases and 115 controls from China. Genotypes were determined by MassArray genotyping assay method. Association between CX3CR1 gene polymorphisms and AMD were examined by χ(2) test and logistic regression.
  
  
  RESULTS
  Genotype distribution of CX3CR1 gene polymorphisms were in accordance with HWE examination. No obvious differences were observed in the genotypes of rs3732378 polymorphism between case and control groups (P>0.05), but A allele of it could increase the risk of AMD (P=0.025, OR=2.391, 95% CI=1.092-5.237). Both TT genotype and T allele of rs3732379 were significantly associated with the susceptibility of AMD (P=8.663, OR=8.663, 95% CI=1.044-71.874; P=0.021, OR=2.076, 95% CI=1.104-3.903). Age, gender and smoking status were used as common confounders to adjust the association between CX3CR1 gene polymorphism and AMD risk. Then we found that rs3732378 had no obvious association with AMD susceptibility. TT genotype of rs3732379 related to the occurrence of AMD, but the association was not significant (P=0.050, OR=8.274, 95% CI=1.002-69.963). T allele of rs3732379 might increase the susceptibility of AMD (P=0.029, OR=2.033, 95% CI=1.077-3.838).
  
  
  CONCLUSIONS
  T allele of rs3732379 might have a positive association with the susceptibility of AMD.
authors.affiliation: Department of Ophthalmology, Shandong Provincial Qianfoshan Hospital, Shandong University Jinan 250014, Shandong, China.
authors.forename: Baofeng
authors.initials: B
authors.lastname: Ma
authors.affiliation: Department of Ophthalmology, Shandong Provincial Qianfoshan Hospital, Shandong University Jinan 250014, Shandong, China.
authors.forename: Guangfu
authors.initials: G
authors.lastname: Dang
authors.affiliation: Department of Ophthalmology, Shandong Provincial Qianfoshan Hospital, Shandong University Jinan 250014, Shandong, China.
authors.forename: Shaoyuan
authors.initials: S
authors.lastname: Yang
authors.affiliation: Department of Ophthalmology, Shandong Provincial Qianfoshan Hospital, Shandong University Jinan 250014, Shandong, China.
authors.forename: Lian
authors.initials: L
authors.lastname: Duan
authors.affiliation: Department of Ophthalmology, Shandong Provincial Qianfoshan Hospital, Shandong University Jinan 250014, Shandong, China.
authors.forename: Yanwei
authors.initials: Y
authors.lastname: Zhang
mesh_terms: D000368:Aged; D000073883:CX3C Chemokine Receptor 1; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D019707:Receptors, Chemokine / Q000235:genetics*; D012307:Risk Factors
chemical_list: D000073883:CX3C Chemokine Receptor 1; C095235:CX3CR1 protein, human; D019707:Receptors, Chemokine
keywords: Age-related macular degeneration; CX3CR1 gene; polymorphisms