A novel locus for body mass index on 5p15.2: a meta-analysis of two genome-wide association studies

Gene. 2012 May 25;500(1):80-4. doi: 10.1016/j.gene.2012.03.046. Epub 2012 Mar 16.

Abstract

Objective: Genetic factors play an important role in modulating the vulnerability to body mass index (BMI). The purpose of this study is to identify novel genetic variants for BMI using genome-wide association (GWA) meta-analysis.

Methods: PLINK software was used to perform meta-analysis of two GWA studies (the FUSION and Marshfield samples) of 5218 Caucasian individuals with BMI. A replication study was conducted using the SAGE sample with 762 individuals.

Results: Through meta-analysis we identified 33 SNPs associated with BMI with p<10(-4). The most significant association was observed with rs2967951 (p=1.19×10(-6)) at 5p15.2 within ROPN1L gene. Two additional SNPs within ROPN1L and 5 SNPs within MARCH6 (the top SNP was rs2607292 with 4.27×10(-6)) further supported the association with BMI on 5p15.2 (p<1.8×10(-5)). Conditional analysis on 5p15.2 could not distinguish the effects of ROPN1L and MARCH6. Several SNPs within MARCH6 and ROPN1L were replicated in the SAGE sample (p<0.05).

Conclusion: We identified a novel locus for BMI. These findings offer the potential for new insights into the pathogenesis of BMI and obesity and will serve as a resource for replication in other populations to elucidate the potential role of these genetic variants in BMI and obesity.

Publication types

  • Meta-Analysis
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Body Mass Index
  • Chromosomes, Human, Pair 5*
  • Diabetes Mellitus, Type 2 / genetics*
  • Genome-Wide Association Study*
  • Humans
  • Obesity / genetics
  • Polymorphism, Single Nucleotide*