title: Association of Pro12Ala polymorphism in peroxisome proliferator activated receptor gamma with proliferative diabetic retinopathy.
abstract: OBJECTIVE
  The association of non-synonymous substitution polymorphism rs1801282 (c.34C>G, p.Pro12Ala) in exon 4 of the peroxisome proliferator activated receptor gamma gene with diabetic retinopathy (DR) has been reported inconsistently. Therefore, the purpose of the present study was to understand the population-specific role of the Pro12Ala polymorphism in DR susceptibility in Pakistani subjects.
  
  
  METHODS
  A total of 180 subjects with DR, 193 subjects with type 2 diabetes mellitus (T2DM) with no diabetic retinopathy, and 200 healthy normoglycemic non-retinopathic Pakistani individuals were genotyped for the rs1801282 (c.34C>G) polymorphism using polymerase chain reaction-restriction fragment length polymorphism.
  
  
  RESULTS
  We found the individuals with T2DM carrying 12Ala were at a reduced risk of developing DR (odds ratio [OR]=0.53; 95% confidence interval [CI]=0.33-0.87). Upon stratified analysis regarding disease severity, we observed this protective effect was confined to proliferative DR (OR=0.4; 95% CI=0.2-0.8) with non-significant effects on the susceptibility of non-proliferative DR (OR=0.67; 95% CI=0.37-1.19).
  
  
  CONCLUSIONS
  We report a protective role of the 12Ala polymorphism against proliferative DR in individuals with T2DM in Pakistan.
authors.affiliation: Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan.
authors.forename: Khadija
authors.initials: K
authors.lastname: Tariq
authors.forename: Saira Bano
authors.initials: SB
authors.lastname: Malik
authors.forename: Syeda Hafiza Benish
authors.initials: SH
authors.lastname: Ali
authors.forename: Sundas Ejaz
authors.initials: SE
authors.lastname: Maqsood
authors.forename: Aisha
authors.initials: A
authors.lastname: Azam
authors.forename: Irfan
authors.initials: I
authors.lastname: Muslim
authors.forename: Muhammad Shakil
authors.initials: MS
authors.lastname: Khan
authors.forename: Maleeha
authors.initials: M
authors.lastname: Azam
authors.forename: Nadia Khalida
authors.initials: NK
authors.lastname: Waheed
authors.forename: Raheel
authors.initials: R
authors.lastname: Qamar
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D016022:Case-Control Studies; D003930:Diabetic Retinopathy / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D047495:PPAR gamma / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors
chemical_list: D047495:PPAR gamma
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