title: [Association of M299V variant in ELOVL4 gene with exudative age-related macular degeneration in a Chinese population].
abstract: OBJECTIVE
  To investigate the association of M299V variant in the elongation of very long chain fatty acids-like 4 (ELOVL4) gene with exudative age-related macular degeneration (AMD) in a Chinese population.
  
  
  METHODS
  A total of 262 participants enrolled this study, including 145 patients with exudative AMD and 117 control individuals without AMD. Genomic DNA was extracted from peripheral blood. Genotyping for single nucleotide polymorphism (SNP) rs3812153: A > G (M299V) in ELOVL4 gene was performed using a method of polymerase chain reaction (PCR) followed by restriction enzyme digestion and direct sequencing. Numerical data were examined by Student t test. Genotypes and allele frequencies between AMD cases and the controls were compared by using the chi(2) test. Odd ratios (OR) and 95% confidence intervals (CI) were calculated according to the Woolf's equation. Compliance to Hardy-Weinberg equilibrium for distribution of genotypes was examined using Haploview version 4.0.
  
  
  RESULTS
  There was no significant difference in age or gender between AMD cases and the controls. Genotype distributions for M299V in AMD cases or the control subjects were in Hardy-Weinberg equilibrium. The M299V variant in ELOVL4 gene was not associated with exudative AMD in the population sample studied (chi(2) = 0.960, P = 0.619). Frequency of the rare allele G was 17.2% in cases with exudative AMD and 19.7% in the control individuals (chi(2) = 0.505, P = 0.477). Compared to the wild-type AA genotype, OR for risk of AMD was 0.99 (95%CI: 0.78 - 1.26) in heterozygous AG genotype and 0.56 (95%CI: 0.17 - 1.82) in homozygous GG genotype.
  
  
  CONCLUSIONS
  Our data suggested that there was no association between the M299V variant in ELOVL4 gene and exudative AMD in the Chinese population.
authors.affiliation: Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Gu
authors.forename: Lei
authors.initials: L
authors.lastname: Cui
authors.forename: Ning-pu
authors.initials: NP
authors.lastname: Liu
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: C418975:ELOVL4 protein, human; D005136:Eye Proteins; D008565:Membrane Proteins