title: Association of sequence variation in the CX3CR1 gene with geographic atrophy age-related macular degeneration in a Greek population.
abstract: OBJECTIVE
  To explore the association of two single nucleotide polymorphisms (SNPs) in the CX3CR1 gene with grades of age-related macular degeneration (AMD) in a population-based setting.
  
  
  METHODS
  The Thessaloniki Eye study is a cross-sectional population-based epidemiologic study of chronic eye diseases in Thessaloniki, Greece. A total of 371 subjects were included and classified according to their AMD status. Subjects with AMD Grades 0-1 (n = 188) were compared to those with AMD Grades 2-3 (n = 138), to those with AMD Grade 4 (geographic atrophy) (n = 20) and to those with AMD Grade 5 (neovascular AMD) (n = 25) with regard to the presence of CX3CR1 polymorphisms (V249I and T280M). Polychotomous logistic regression analysis adjusted for age, gender, and smoking was conducted and the log-additive allelic model was preferred.
  
  
  RESULTS
  Participants with AMD Grade 4 were approximately three times more likely to carry the VI249 and nine times more likely to carry the II249 alleles, compared to those with AMD Grades 0-1, whereas those with AMD Grades 2-3 or Grade 5 did not differ. The T280M polymorphism was not associated with either AMD Grades 2-3 or AMD Grades 4 or 5.
  
  
  CONCLUSIONS
  In this Greek population, after adjusting for known risk factors, increased risk of geographic atrophy (GA) AMD among the carriers of the V249I polymorphism in the CX3CR1 gene was found. Our study failed to reveal any association with the T280M polymorphism reported in previous studies. Additional studies in different ethnic populations using standardized methodology are needed in order to confirm this association.
authors: A' Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, AHEPA Hospital, Thessaloniki, Greece.
authors: Eleftherios
authors: E
authors: Anastasopoulos
authors: Anastasia
authors: A
authors: Kakoulidou
authors: Anne L
authors: AL
authors: Coleman
authors: Janet S
authors: JS
authors: Sinsheimer
authors: M Roy
authors: MR
authors: Wilson
authors: Fei
authors: F
authors: Yu
authors: Aggeliki
authors: A
authors: Salonikiou
authors: Archimidis
authors: A
authors: Koskosas
authors: Theofanis
authors: T
authors: Pappas
authors: Panayiota
authors: P
authors: Founti
authors: Alexandros
authors: A
authors: Lambropoulos
authors: Fotis
authors: F
authors: Topouzis
mesh_terms: D000368:Aged; D000483:Alleles; D000073883:CX3C Chemokine Receptor 1; D003430:Cross-Sectional Studies; D004252:DNA Mutational Analysis; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D060005:Genotyping Techniques; D057092:Geographic Atrophy / Q000208:ethnology / Q000235:genetics*; D006115:Greece / Q000453:epidemiology; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D019707:Receptors, Chemokine / Q000235:genetics*; D012307:Risk Factors; D044465:White People / Q000235:genetics*
chemical_list: D000073883:CX3C Chemokine Receptor 1; C095235:CX3CR1 protein, human; D019707:Receptors, Chemokine