Replication of association between a common variant near melanocortin-4 receptor gene and obesity-related traits in Asian Sikhs

Obesity (Silver Spring). 2010 Feb;18(2):425-9. doi: 10.1038/oby.2009.254. Epub 2009 Aug 13.

Abstract

Recent genome-wide association studies (GWAS) in Asian Indians reported strong associations of variants near melanocortin-4 receptor (MC4R) and MLX interacting protein-like (MLXIPL) genes with insulin resistance and several obesity-related quantitative traits (QTs). Here, we evaluated the association of two variants (rs12970134 and rs4450508) near MC4R and a nonsynonymous (Gln241His) variant (rs3812316) in MLXIPL gene with type 2 diabetes (T2D) and obesity-related QTs in our case-control cohort (n = 1,528; 745 T2D cases and 783 controls) from a Sikh population from North India. We have successfully replicated the association of MC4R (rs12970134) with BMI (P = 0.0005), total weight (WT) (P = 0.001), and waist circumference (WC) (P = 0.001). These associations remained significant after controlling for multiple testing by applying Bonferroni's correction. However, our data did not confirm the association of rs3812316 in the MLXIPL gene with triglyceride (TG) levels. These observations demonstrate that the genetic variation in MC4R locus can have a moderate contribution in the regional fat deposition and development of central obesity in Asian Indians.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian People / genetics*
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics
  • Body Mass Index
  • Body Weight / ethnology
  • Body Weight / genetics
  • Case-Control Studies
  • Diabetes Mellitus, Type 2 / ethnology
  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetes Mellitus, Type 2 / physiopathology
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • India / epidemiology
  • Insulin Resistance / ethnology
  • Insulin Resistance / genetics*
  • Linkage Disequilibrium
  • Male
  • Middle Aged
  • Obesity / ethnology
  • Obesity / genetics*
  • Obesity / physiopathology
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Quantitative Trait, Heritable
  • Receptor, Melanocortin, Type 4 / genetics*
  • Risk Assessment
  • Risk Factors
  • Waist Circumference / ethnology
  • Waist Circumference / genetics

Substances

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • MC4R protein, human
  • MLXIPL protein, human
  • Receptor, Melanocortin, Type 4