Association of rs11643718 SLC12A3 and rs741301 ELMO1 Variants with Diabetic Nephropathy in South Indian Population

Ann Hum Genet. 2016 Nov;80(6):336-341. doi: 10.1111/ahg.12174. Epub 2016 Oct 4.

Abstract

This study reports on the association of genetic variants selected from previous genome-wide association studies for type 2 diabetic nephropathy in south Indians. Eight variants were genotyped in 601 type 2 diabetic subjects without nephropathy (DM) and 583 type 2 diabetic subjects with nephropathy (DN) by MassARRAY. The minor allele frequencies of rs11643718 SLC12A3 variant and rs741301 ELMO1 variant were significantly different between DM and DN groups (P = 0.029 and 0.016, respectively). A combined analysis showed that the subjects carrying the risk genotypes of both these variants (GG of rs11643718 + AG/AA of rs741301) had a significant association with DN with an odds ratio [adjusted for age, sex, Body Mass Index (BMI), HbA1c, and systolic Blood Pressure (BP)] of 1.73 (1.30-2.30, P = 1.72 × 10-4 ) as compared to subjects carrying all other genotype combinations. This is the first study to report a significant association of the SLC12A3 rs11643718 and ELMO1 rs741301 (Single nucleotide Polymorphism) SNPs with diabetic nephropathy in south Indians.

Keywords: Diabetic nephropathy; ELMO1 gene; SLC12A3 gene; South Indians; rs11643718; rs741301.

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Aged
  • Asian People
  • Case-Control Studies
  • Diabetes Mellitus, Type 2 / complications
  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetic Nephropathies / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • India
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA
  • Solute Carrier Family 12, Member 3 / genetics

Substances

  • Adaptor Proteins, Signal Transducing
  • ELMO1 protein, human
  • SLC12A3 protein, human
  • Solute Carrier Family 12, Member 3