Pathway-Based Genome-wide Association Studies Reveal That the Rac1 Pathway Is Associated with Plasma Adiponectin Levels

Sci Rep. 2015 Aug 24:5:13422. doi: 10.1038/srep13422.

Abstract

Pathway-based analysis as an alternative and effective approach to identify disease-related genes or loci has been verified. To decipher the genetic background of plasma adiponectin levels, we performed genome wide pathway-based association studies in extremely obese individuals and normal-weight controls. The modified Gene Set Enrichment Algorithm (GSEA) was used to perform the pathway-based analyses (the GenGen Program) in 746 European American females, which were collected from our previous GWAS in extremely obese (BMI > 35 kg/m(2)) and never-overweight (BMI<25 kg/m(2)) controls. Rac1 cell motility signaling pathway was associated with plasma adiponectin after false-discovery rate (FDR) correction (empirical P < 0.001, FDR = 0.008, family-wise error rate = 0.008). Other several Rac1-centered pathways, such as cdc42racPathway (empirical P < 0.001), hsa00603 (empirical P = 0.003) were among the top associations. The RAC1 pathway association was replicated by the ICSNPathway method, yielded a FDR = 0.002. Quantitative pathway analyses yielded similar results (empirical P = 0.001) for the Rac1 pathway, although it failed to pass the multiple test correction (FDR = 0.11). We further replicated our pathway associations in the ADIPOGen Consortium data by the GSA-SNP method. Our results suggest that Rac1 and related cell motility pathways might be associated with plasma adiponectin levels and biological functions of adiponectin.

Publication types

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

MeSH terms

  • Adiponectin / blood*
  • Body Mass Index
  • Case-Control Studies
  • Genome-Wide Association Study*
  • Humans
  • Polymorphism, Single Nucleotide / genetics
  • Reproducibility of Results
  • Signal Transduction / genetics*
  • White People / genetics
  • rac1 GTP-Binding Protein / metabolism*

Substances

  • ADIPOQ protein, human
  • Adiponectin
  • RAC1 protein, human
  • rac1 GTP-Binding Protein