title: Association of RAGE (p.Gly82Ser) and MnSOD (p.Val16Ala) polymorphisms with diabetic retinopathy in T2DM patients from north India.
abstract: OBJECTIVE
  The present study aimed to examine the association of RAGE (p.Gly82Ser) and MnSOD (p.Val16Ala) polymorphisms with diabetic retinopathy (DR) in north Indian T2DM patients.
  
  
  METHODS
  In this case-control association study, 758 T2DM patients were recruited. 446 with retinal neovascularization, microneurysms and hemorrhages were considered as cases (DR) and 312 patients with T2DM and no clinical signs of retinopathy (DNR), were recruited as controls. Genotypes for RAGE (p.Gly82Ser) and MnSOD (p.Val16Ala) polymorphisms were generated by direct sequencing of amplified products.
  
  
  RESULTS
  Genotype distribution of p.Gly82Ser (RAGE) and p.Val16Ala (MnSOD) polymorphisms were significantly different between DR and DNR (p<0.05) whereas distribution of allele frequency did not differ significantly (p>0.05). A significantly higher frequency of homozygous Ser82 genotype in DR patients was detected compared with DNR (2.4% vs 0.64%) for p.Gly82Ser (RAGE) polymorphism whereas there was a higher frequency of homozygous Ala16 genotype for p.Val16Ala (MnSOD) polymorphism in DR patients compared with DNR (22.6% vs 19.3%). Binary logistic analyses showed an association of homozygous recessive genotype Ser82 with DR (OR: 2.63%, 95% CI: 0.16-15.88, p<0.033) for p.Gly82Ser (RAGE) polymorphism. However, we did not find a significant association of p.Val16Ala polymorphism in MnSOD with retinopathy.
  
  
  CONCLUSIONS
  The findings indicate a statistically significant association of p.Gly82Ser polymorphism in RAGE with DR in T2DM patients.
authors: Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India. Electronic address: vanita_kumar@yahoo.com.
authors: Vanita
authors: V
authors: Vanita
mesh_terms: D004247:DNA / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D003930:Diabetic Retinopathy / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D015995:Prevalence; D000067759:Receptor for Advanced Glycation End Products / Q000235:genetics* / Q000378:metabolism; D011971:Receptors, Immunologic / Q000235:genetics; D012189:Retrospective Studies; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013482:Superoxide Dismutase / Q000235:genetics* / Q000378:metabolism; D000099156:Superoxide Dismutase 2
chemical_list: D004247:DNA; D000067759:Receptor for Advanced Glycation End Products; D011971:Receptors, Immunologic; D013482:Superoxide Dismutase; D000099156:Superoxide Dismutase 2
keywords: Case-control association study; Diabetic retinopathy; Genotyping; MnSOD; Polymorphism; RAGE