title: Genome-wide association study identified copy number variants important for appendicular lean mass.
abstract: Skeletal muscle is a major component of the human body. Age-related loss of muscle mass and function contributes to some public health problems such as sarcopenia and osteoporosis. Skeletal muscle, mainly composed of appendicular lean mass (ALM), is a heritable trait. Copy number variation (CNV) is a common type of human genome variant which may play an important role in the etiology of many human diseases. In this study, we performed genome-wide association analyses of CNV for ALM in 2,286 Caucasian subjects. We then replicated the major findings in 1,627 Chinese subjects. Two CNVs, CNV1191 and CNV2580, were detected to be associated with ALM (p = 2.26×10(-2) and 3.34×10(-3), respectively). In the Chinese replication sample, the two CNVs achieved p-values of 3.26×10(-2) and 0.107, respectively. CNV1191 covers a gene, GTPase of the immunity-associated protein family (GIMAP1), which is important for skeletal muscle cell survival/death in humans. CNV2580 is located in the Serine hydrolase-like protein (SERHL) gene, which plays an important role in normal peroxisome function and skeletal muscle growth in response to mechanical stimuli. In summary, our study suggested two novel CNVs and the related genes that may contribute to variation in ALM.
authors.affiliation: Center of System Biomedical Sciences, University of Shanghai for Science and Technology, Shanghai, People's Republic of China.
authors.forename: Shu
authors.initials: S
authors.lastname: Ran
authors.affiliation: Department of Biostatistics and Bioinformatics, Tulane University, New Orleans, Louisiana, United States of America.
authors.forename: Yong-Jun
authors.initials: YJ
authors.lastname: Liu
authors.affiliation: Center of System Biomedical Sciences, University of Shanghai for Science and Technology, Shanghai, People's Republic of China.
authors.forename: Lei
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Center of System Biomedical Sciences, University of Shanghai for Science and Technology, Shanghai, People's Republic of China.
authors.forename: Yufang
authors.initials: Y
authors.lastname: Pei
authors.affiliation: Key Laboratory of Biomedical Information Engineering of the Ministry of Education, Institute of Molecular Genetics, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, People's Republic of China.
authors.forename: Tie-Lin
authors.initials: TL
authors.lastname: Yang
authors.affiliation: Geriatrics Health Clinic of Inner Mongolia People's Hospital, Inner Mongolia, People's Republic of China.
authors.forename: Rong
authors.initials: R
authors.lastname: Hai
authors.affiliation: Center of System Biomedical Sciences, University of Shanghai for Science and Technology, Shanghai, People's Republic of China.
authors.forename: Ying-Ying
authors.initials: YY
authors.lastname: Han
authors.affiliation: Center of System Biomedical Sciences, University of Shanghai for Science and Technology, Shanghai, People's Republic of China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Lin
authors.affiliation: Department of Biostatistics and Bioinformatics, Tulane University, New Orleans, Louisiana, United States of America.
authors.forename: Qing
authors.initials: Q
authors.lastname: Tian
authors.affiliation: Center of System Biomedical Sciences, University of Shanghai for Science and Technology, Shanghai, People's Republic of China; Department of Biostatistics and Bioinformatics, Tulane University, New Orleans, Louisiana, United States of America.
authors.forename: Hong-Wen
authors.initials: HW
authors.lastname: Deng
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People; D015992:Body Mass Index; D002681:China; D056915:DNA Copy Number Variations; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics; D019204:GTP-Binding Proteins / Q000235:genetics*; D018628:Gene Dosage; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000502:physiology*; D010641:Phenotype; D011786:Quality Control; D015203:Reproducibility of Results; D012984:Software; D044465:White People
chemical_list: C450435:GIMAP1 protein, human; D008565:Membrane Proteins; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins