Haplotypes in vitamin D receptor gene encode risk in diabetic nephropathy

Gene. 2019 Jan 30:683:149-152. doi: 10.1016/j.gene.2018.10.017. Epub 2018 Oct 11.

Abstract

Background: Diabetic Nephropathy (DN) is one of the microvascular complications of diabetes and its early diagnosis can improve patient's quality of life. Genetic factors may increase the risk of DN development. This study aimed to evaluate the association of vitamin D receptor (VDR) gene polymorphisms and DN.

Method: A total of 313 Iranian participants including 104 diabetic patients with nephropathy (DN), 100 diabetic patients without nephropathy (D) and 109 healthy people (HC) were studied. The frequencies of rs7975232, rs731236 and rs4516035 variants of VDR gene were determined and compared between three groups. Estimated haplotype frequencies between polymorphisms in the cases and controls were also calculated.

Results: No significant differences were identified for allele /genotype frequencies in HC, D and DN groups. However haplotype analysis showed that haplotype encompassing CCC alleles for rs7975232, rs731236 and rs4516035 variants, respectively was more frequent in DN subjects compared to HC (p-value = 0.01) and also, haplotype comprising TCC alleles was more frequent in DN group compared to both HC and D groups (p-value = 0.004 and 0.007, respectively).

Conclusion: Our study identified that CCC and TCC VDR haplotypes are risk factors for DN in patients with diabetes type 2.

Keywords: Diabetes type 2; Diabetic nephropathy; Vitamin D receptor gene; rs731236 and rs4516035; rs7975232.

MeSH terms

  • Adult
  • Aged
  • Case-Control Studies
  • Diabetic Nephropathies / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Haplotypes*
  • Humans
  • Iran
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Receptors, Calcitriol / genetics*

Substances

  • Receptors, Calcitriol
  • VDR protein, human