title: Association of aldose reductase gene (AKR1B1) polymorphism with diabetic retinopathy.
abstract: OBJECTIVE
  Present study aimed to investigate the association of aldose reductase (AKR1B1) gene polymorphism (-106C>T; rs759853) with diabetic retinopathy (DR) in type 2 diabetes mellitus (T2DM) patients from north India.
  
  
  METHODS
  The present case-control association study recruited 926 subjects, including 487 DR patients and 439 individuals with confirmed T2DM as controls (CDR). AKR1B1 -106C>T polymorphism analysis in these 926 subjects was performed by polymerase chain reaction and direct DNA sequence analysis. Statistical analysis was performed using SPSS package.
  
  
  RESULTS
  Statistically significant differences were observed between the two analyzed groups in the age of onset of diabetes (p=0.000) and duration of diabetes (p=0.000). Genotype distribution of AKR1B1 -106C>T polymorphism differed significantly between DR and CDR groups (p=0.02), however, distribution of allele frequency did not differ significantly (p=0.19). Binary logistic regression analyses showed an association of homozygous recessive TT genotype with diabetic retinopathy (OR: 1.61%, 95% CI, 1.39-2.284, p<0.01) in comparison to wild type CC genotype.
  
  
  CONCLUSIONS
  These findings suggest a statistically significant association of AKR1B1 -106C>T polymorphism with retinopathy in North Indian patients. To our knowledge, this is the first report of association of -106C>T polymorphism in AKR1B1 in DR patients from India.
authors.affiliation: Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India. Electronic address: navdeepsidhu2490@gmail.com.
authors.forename: Navdeep
authors.initials: N
authors.lastname: Kaur
authors.affiliation: Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India. Electronic address: vanita_kumar@yahoo.com.
authors.forename: Vanita
authors.initials: V
authors.lastname: Vanita
mesh_terms: D000368:Aged; D000449:Aldehyde Reductase / Q000235:genetics*; D044466:Asian People; D016022:Case-Control Studies; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D003930:Diabetic Retinopathy / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: C484670:AKR1B1 protein, human; D000449:Aldehyde Reductase
keywords: -106C>T polymorphism; AKR1B1; Case-control association study; DNA sequencing; Diabetic retinopathy; Type 2 diabetes