Association of aldose reductase gene (AKR1B1) polymorphism with diabetic retinopathy

Diabetes Res Clin Pract. 2016 Nov:121:41-48. doi: 10.1016/j.diabres.2016.08.019. Epub 2016 Sep 8.

Abstract

Aims: 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.

Keywords: -106C>T polymorphism; AKR1B1; Case-control association study; DNA sequencing; Diabetic retinopathy; Type 2 diabetes.

MeSH terms

  • Aged
  • Aldehyde Reductase / genetics*
  • Asian People
  • Case-Control Studies
  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetic Retinopathy / genetics*
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • India
  • Male
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • Sequence Analysis, DNA

Substances

  • AKR1B1 protein, human
  • Aldehyde Reductase