CDKAL1 rs7756992 is associated with diabetic retinopathy in a Chinese population with type 2 diabetes

Sci Rep. 2017 Aug 18;7(1):8812. doi: 10.1038/s41598-017-09010-w.

Abstract

Diabetic retinopathy (DR) is a major microvascular complication of diabetes. Susceptibility genes for type 2 diabetes may also impact the susceptibility of DR. This case-control study investigated the effects of 88 type 2 diabetes susceptibility loci on DR in a Chinese population with type 2 diabetes performed in two stages. In stage 1, 88 SNPs were genotyped in 1,251 patients with type 2 diabetes, and we found that ADAMTS9-AS2 rs4607103, WFS1 rs10010131, CDKAL1 rs7756992, VPS26A rs1802295 and IDE-KIF11-HHEX rs1111875 were significantly associated with DR. The association between CDKAL1 rs7756992 and DR remained significant after Bonferroni correction for multiple comparisons (corrected P = 0.0492). Then, the effect of rs7756992 on DR were analysed in two independent cohorts for replication in stage 2. Cohort (1) consisted of 380 patients with DR and 613 patients with diabetes for ≥5 years but without DR. Cohort (2) consisted of 545 patients with DR and 929 patients with diabetes for ≥5 years but without DR. A meta-analysis combining the results of stage 1 and 2 revealed a significant association between rs7756992 and DR, with the minor allele A conferring a lower risk of DR (OR 0.824, 95% CI 0.743-0.914, P = 2.46 × 10-4).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alleles*
  • Asian People*
  • Case-Control Studies
  • China / epidemiology
  • Diabetes Mellitus, Type 2 / complications*
  • Diabetes Mellitus, Type 2 / epidemiology*
  • Diabetes Mellitus, Type 2 / genetics
  • Diabetic Retinopathy / diagnosis
  • Diabetic Retinopathy / epidemiology*
  • Diabetic Retinopathy / etiology*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Odds Ratio
  • Polymorphism, Single Nucleotide
  • Severity of Illness Index
  • tRNA Methyltransferases / genetics*

Substances

  • tRNA Methyltransferases
  • CDKAL1 protein, human