title: Pigment epithelium-derived factor gene polymorphisms in exudative age-related degeneration in a chinese cohort.
abstract: OBJECTIVE
  To investigate polymorphisms in the pigment epithelium-derived factor (PEDF) gene in a Chinese cohort with exudative age-related macular degeneration (AMD).
  
  
  METHODS
  Two common single nucleotide polymorphisms (SNPs), Met72Thr (rs1136287) and -5736T>C (rs12150053), were genotyped, and four tagSNPs (tSNPs) were detected statistically in the PEDF gene of 168 exudative AMD patients and 230 age- and sex-matched control participants. Genetic analyses for additive, dominant, and recessive models were performed on all the available genotype data. All the possible haplotypes of these six SNPs were detected.
  
  
  RESULTS
  No association was found between the patients and the control participants in the allele frequencies for any individual SNP. There was evidence to suggest that heterozygotes for rs1136287 (C/T) exerted a protective effect against exudative AMD (additive model, OR 0.59, CI 0.36-0.95, p = 0.03), but none of the p-values in the other genotype groups were statistically significant. Likewise, haplotype analyses did not provide any evidence for an association between SNPs in the PEDF gene and the risk of exudative AMD in this Chinese cohort (p > 0.05).
  
  
  CONCLUSIONS
  Detection of SNPs in the PEDF gene was not found to be significantly associated with exudative AMD in the Chinese cohort. Further studies of comprehensive PEDF gene variations are required to characterize the susceptibility of PEDF gene in the pathogenesis of AMD.
authors.affiliation: Department of Ophthalmology, Qilu Hospital of Shandong University, 107 Wenhuaxi Road, Jinan, China. drquyi@gmail.com
authors.forename: Yi
authors.initials: Y
authors.lastname: Qu
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Zhang
authors.forename: Hong
authors.initials: H
authors.lastname: Dai
authors.forename: Fang
authors.initials: F
authors.lastname: Zhou
authors.forename: Xiaoyi
authors.initials: X
authors.lastname: Xu
authors.forename: Xiao
authors.initials: X
authors.lastname: Zhang
authors.forename: Hongsheng
authors.initials: H
authors.lastname: Bi
authors.forename: Xuemei
authors.initials: X
authors.lastname: Pan
authors.forename: Hongge
authors.initials: H
authors.lastname: Wang
authors.forename: Hua
authors.initials: H
authors.lastname: Jiang
authors.forename: Ningning
authors.initials: N
authors.lastname: Yin
authors.forename: Guangfu
authors.initials: G
authors.lastname: Dang
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D005122:Exudates and Transudates; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009414:Nerve Growth Factors / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D015843:Serpins / Q000235:genetics*; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D000099174:Pigment Epithelium-Derived Factor
chemical_list: D005136:Eye Proteins; D009414:Nerve Growth Factors; D015843:Serpins; D000099174:Pigment Epithelium-Derived Factor