ArticleJournal of human genetics2012
Genome-wide association study of copy number variation identified gremlin1 as a candidate gene for lean body mass.
Article in Journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Three pleiotropic loci associated with bone mineral density and lean body mass.Molecular genetics and genomics : MGG · 2021Pooled it
- Replication of FTO Gene associated with lean mass in a Meta-Analysis of Genome-Wide Association Studies.Scientific reports · 2020Pooled it
- Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.Nature communications · 2017Pooled it
- Network construction using sparse Gaussian graphical model based on GWAS summary statistics.Scientific reports · 2025Article
- Unveiling genetic variants for age-related sarcopenia by conducting a genome-wide association study on Korean cohorts.Scientific reports · 2022Article
- Association of 3p27.1 Variants with Whole Body Lean Mass Identified by a Genome-wide Association Study.Scientific reports · 2020Article
- Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2.American journal of human genetics · 2019Article
- Two functional variants at 6p21.1 were associated with lean mass.Skeletal muscle · 2019Article
- Integrating CNVs into meta-QTL identified GBP4 as positional candidate for adult cattle stature.Functional & integrative genomics · 2018Article
- Genomics and metabolomics of muscular mass in a community-based sample of UK females.European journal of human genetics : EJHG · 2016Article
- Genome-wide association study of copy number variations (CNVs) with opioid dependence.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2015Article
- Article
- Large-scale analysis reveals a functional single-nucleotide polymorphism in the 5'-flanking region of PRDM16 gene associated with lean body mass.Aging cell · 2014Article
- Endocrine crosstalk between muscle and bone.Current osteoporosis reports · 2014Review
- A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer.Human genetics · 2014Article
- Genome-wide association study identified copy number variants important for appendicular lean mass.PloS one · 2014Article
- Article
- Continuing difficulties in interpreting CNV data: lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients.BMC medical genomics · 2013Article
- Article
- Genetic aspects of skeletal muscle strength and mass with relevance to sarcopenia.BoneKEy reports · 2012Review
Corrections and comments
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Authors and funding
15 authors.
Funding
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.
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