Bivariate genome-wide association study suggests that the DARC gene influences lean body mass and age at menarche

Sci China Life Sci. 2012 Jun;55(6):516-20. doi: 10.1007/s11427-012-4327-6. Epub 2012 Jun 29.


Lean body mass (LBM) and age at menarche (AAM) are two important complex traits for human health. The aim of this study was to identify pleiotropic genes for both traits using a powerful bivariate genome-wide association study (GWAS). Two studies, a discovery study and a replication study, were performed. In the discovery study, 909622 single nucleotide polymorphisms (SNPs) were genotyped in 801 unrelated female Han Chinese subjects using the Affymetrix human genome-wide SNP array 6.0 platform. Then, a bivariate GWAS was performed to identify the SNPs that may be important for LBM and AAM. In the replication study, significant findings from the discovery study were validated in 1692 unrelated Caucasian female subjects. One SNP rs3027009 that was bivariately associated with left arm lean mass and AAM in the discovery samples (P=7.26×10(-6)) and in the replication samples (P=0.005) was identified. The SNP is located at the upstream of DARC (Duffy antigen receptor for chemokines) gene, suggesting that DARC may play an important role in regulating the metabolisms of both LBM and AAM.

Publication types

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

MeSH terms

  • Adult
  • Asian People / genetics
  • Body Composition / genetics*
  • China
  • Duffy Blood-Group System / genetics*
  • Female
  • Genome-Wide Association Study / methods*
  • Genotype
  • Humans
  • Linear Models
  • Menarche / genetics*
  • Middle Aged
  • Multivariate Analysis
  • Polymorphism, Single Nucleotide
  • Receptors, Cell Surface / genetics*
  • Young Adult


  • ACKR1 protein, human
  • Duffy Blood-Group System
  • Receptors, Cell Surface