title: Genome-wide association study of copy number variation identified gremlin1 as a candidate gene for lean body mass.
abstract: Lean body mass (LBM) is a heritable trait predicting a series of health problems, such as osteoporotic fracture and sarcopenia. We aim to identify sequence variants associated with LBM by a genome-wide association study (GWAS) of copy number variants (CNVs). We genotyped genome-wide CNVs of 1627 individuals of the Chinese population with Affymetrix SNP6.0 genotyping platform, which comprised of 9 40 000 copy number probes. We then performed a GWAS of CNVs with lean mass at seven sites: left and right arms, left and right legs, total of limb, trunk and whole body. We identified a CNV that is associated with LBM variation at the genome-wide significance level (CNV2073, Bonferroni corrected P-value 0.002 at right arm). CNV2073 locates at chromosome 15q13.3, which has been implicated as a candidate region for LBM by our previous linkage studies. The nearest gene, gremlin1, has a key role in the regulation of skeletal muscle formation and repair. Our results suggest that the gremlin1 gene is a potentially important gene for LBM variation. Our findings also show the utility and efficacy of CNV as genetic markers in association studies.
authors: Center of System Biomedical Sciences, University of Shanghai for Science and Technology, 516 Jungong Road, Shanghai, PR China.
authors: Rong
authors: R
authors: Hai
authors: Yu-Fang
authors: YF
authors: Pei
authors: Hui
authors: H
authors: Shen
authors: Lei
authors: L
authors: Zhang
authors: Xiao-Gang
authors: XG
authors: Liu
authors: Yong
authors: Y
authors: Lin
authors: Shu
authors: S
authors: Ran
authors: Feng
authors: F
authors: Pan
authors: Li-Jun
authors: LJ
authors: Tan
authors: Shu-Feng
authors: SF
authors: Lei
authors: Tie-Lin
authors: TL
authors: Yang
authors: Yan
authors: Y
authors: Zhang
authors: Xue-Zhen
authors: XZ
authors: Zhu
authors: Lan-Juan
authors: LJ
authors: Zhao
authors: Hong-Wen
authors: HW
authors: Deng
mesh_terms: D000328:Adult; D001835:Body Weight / Q000235:genetics*; D056915:DNA Copy Number Variations / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D055106:Genome-Wide Association Study; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D013851:Thinness / Q000235:genetics*
chemical_list: C486399:GREM1 protein, human; D036341:Intercellular Signaling Peptides and Proteins