ArticlePloS one2011
Bivariate genome-wide association analyses of femoral neck bone geometry and appendicular lean mass.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 3 of them syntheses that pooled it.
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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.
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Who cites it
16 citing papers in PubMed, 3 syntheses or guidelines pooled it, 25 citations in OpenAlex.
- Identification of pleiotropic loci underlying hip bone mineral density and trunk lean mass.Journal of human genetics · 2021Pooled 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
- Article
- Association of 3p27.1 Variants with Whole Body Lean Mass Identified by a Genome-wide Association Study.Scientific reports · 2020Article
- Genetics of Bone and Muscle Interactions in Humans.Current osteoporosis reports · 2019Review
- MiR-876-5p suppresses epithelial-mesenchymal transition of lung cancer by directly down-regulating bone morphogenetic protein 4.Journal of biosciences · 2017Article
- The genetics of bone mass and susceptibility to bone diseases.Nature reviews. Rheumatology · 2016Review
- Genomics and metabolomics of muscular mass in a community-based sample of UK females.European journal of human genetics : EJHG · 2016Article
- Review
- Endocrine crosstalk between muscle and bone.Current osteoporosis reports · 2014Review
- Article
- Genome-wide association study identified copy number variants important for appendicular lean mass.PloS one · 2014Article
- Suggestion of GLYAT gene underlying variation of bone size and body lean mass as revealed by a bivariate genome-wide association study.Human genetics · 2013Article
- Genome-wide approaches for identifying genetic risk factors for osteoporosis.Genome medicine · 2013Review
- 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
11 authors at 4 institutions in 2 countries.
Funding
Abstract
objectiveFemoral neck geometric parameters (FNGPs), such as periosteal diameter (W), cross-sectional area (CSA), cortical thickness (CT), buckling ratio (BR), and section modulus (Z), are highly genetically correlated with body lean mass. However, the specific SNPs/genes shared by these phenotypes are largely unknown.
methodsTo identify the specific SNPs/genes shared between FNGPs and appendicular lean mass (ALM), we performed an initial bivariate genome-wide association study (GWAS) by scanning ∼690,000 SNPs in 1,627 unrelated Han Chinese adults (802 males and 825 females) and a follow-up replicate study in 2,286 unrelated US Caucasians.
resultsWe identified 13 interesting SNPs that may be important for both FNGPs and ALM. Two SNPs, rs681900 located in the HK2 (hexokinase 2) gene and rs11859916 in the UMOD (uromodulin) gene, were bivariately associated with FNGPs and ALM (p = 7.58×10(-6) for ALM-BR and p = 2.93×10(-6) for ALM-W, respectively). The associations were then replicated in Caucasians, with corresponding p values of 0.024 for rs681900 and 0.047 for rs11859916. Meta-analyses yielded combined p values of 3.05×10(-6) and 2.31×10(-6) for rs681900 and rs11859916, respectively. Our findings are consistent with previous biological studies that implicated HK2 and UMOD in both FNGPs and ALM. Our study also identified a group of 11 contiguous SNPs, which spanned a region of ∼130 kb, were bivariately associated with FNGPs and ALM, with p values ranging from 3.06×10(-7) to 4.60×10(-6) for ALM-BR. The region contained two neighboring miRNA coding genes, MIR873 (MicroRNA873) and MIR876 (MicroRNA876).
conclusionOur study implicated HK2, UMOD, MIR873 and MIR876, as pleiotropic genes underlying variation of both FNGPs and ALM, thus suggesting their important functional roles in co-regulating both FNGPs and ALM.
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