Genome-wide association study identified copy number variants important for appendicular lean mass

PLoS ONE

Volumn 9, Issue 3, 2014, Pages

  Ran, Shu ^a   Liu, Yong Jun ^d   Zhang, Lei ^a   Pei, Yufang ^a   Yang, Tie Lin ^b   Hai, Rong ^c   Han, Ying Ying ^a   Lin, Yong ^a   Tian, Qing ^d   Deng, Hong Wen ^a,d  

^a UNIVERSITY OF SHANGHAI FOR SCIENCE AND TECHNOLOGY   (China)

^b XI'AN JIAOTONG UNIVERSITY   (China)

^c Geriatrics Health Clinic of Inner Mongolia People's Hospital   (China)

^d TULANE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; APPENDICULAR LEAN MASS; ARTICLE; CAUCASIAN; CHINESE; COPY NUMBER VARIATION; FEMALE; GENE; GENETIC ASSOCIATION; GTPASE OF THE IMMUNITY ASSOCIATED PROTEIN FAMILY GENE; HUMAN; LEAN BODY WEIGHT; MALE; SERINE HYDROLASE LIKE PROTEIN GENE; SINGLE NUCLEOTIDE POLYMORPHISM; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BODY MASS; CHINA; GENE DOSAGE; GENETIC VARIATION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; MIDDLE AGED; PHENOTYPE; PHYSIOLOGY; QUALITY CONTROL; REPRODUCIBILITY; SKELETAL MUSCLE; SOFTWARE;

GIMAP1 PROTEIN, HUMAN; GUANINE NUCLEOTIDE BINDING PROTEIN; GUANOSINE TRIPHOSPHATASE; MEMBRANE PROTEIN;

ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BODY MASS INDEX; CHINA; DNA COPY NUMBER VARIATIONS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE DOSAGE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; GTP PHOSPHOHYDROLASES; GTP-BINDING PROTEINS; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUSCLE, SKELETAL; PHENOTYPE; QUALITY CONTROL; REPRODUCIBILITY OF RESULTS; SOFTWARE;

EID: 84898740264     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0089776     Document Type: Article

References (37)

1. Sipila S, Heikkinen E, Cheng S, Suominen H, Saari P, et al. (2006) Endogenous hormones, muscle strength, and risk of fall-related fractures in older women. J. Gerontol. A Biol. Sci. Med. Sci. 61: 92-96. (Pubitemid 43227806)
2. Karakelides H, Nair KS (2005) Sarcopenia of aging and its metabolic impact. Curr. Top Dev. Biol. 68: 123-148. (Pubitemid 43588859)
3. Baumgartner RN (2000) Body composition in healthy aging. Ann.N Y.Acad.Sci. 904: 437-48.
4. Gallagher D, Visser M, De Meersman RE, Sepulveda D, Baumgartner RN, et al. (1997) Appendicular skeletal muscle mass: effects of age, gender, and ethnicity. J Appl. Physiol. 83: 229-239. (Pubitemid 27304754)
5. Newman AB, Kupelian V, Visser M Simonsick E, Goodpaster B, et al. (2003) Sarcopenia: alternative definitions and associations with lower extremity function. J. Am. Geriatr. Soc. 51: 1602-1609. (Pubitemid 37409595)
6. Delmonico MJ, Harris TB, Lee JS, Visser M, Nevitt M, et al. (2007) Alternative definitions of sarcopenia, lower extremity performance, and functional impairment with aging in older men and women. J. Am. Geriatr. Soc. 55: 769-74. (Pubitemid 46668965)
7. Thomis MA, Huygens W, Heuninckx S, Chagnon M, Maes HHM, et al. (2004). Exploration of myostatin polymorphisms and the angiotensin-converting enzyme insertion/deletion genotype in responses of human muscle to strength training. Eur J Appl Physiol 92: 267-274. (Pubitemid 39117488)
8. Arden NK, Spector TD (1997) Genetic influences on muscle strength, lean body mass, and bone mineral density: a twin study. J Bone Miner Res, 12, 2076-2081. (Pubitemid 27524484)
9. Sun L, Tan LJ, Lei SF, Chen XD, Li X, et al. (2011) Bivariate genome-wide association analyses of femoral neck bone geometry and appendicular lean mass. PLoS One 6: e27325.
10. Han YY, Pei YF, Liu YZ, Zhang L, Wu SY, et al. (2012) Bivariate genome-wide association study suggests fatty acid desaturase genes and cadherin DCHS2 for variation of both compressive strength index and appendicular lean mass in males. Bone 51: 1000-1007.
11. Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, et al. (2008) Rare structural variants disrupt multiple genes in neuro developmental pathways in schizophrenia. Science 320: 539-543. (Pubitemid 351590668)
12. The International Schizophrenia Consortium (2008) Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455: 237-241.
13. Ibanez P, Bonnet AM, Debarges B, Lohmann E, Tison F, et al. (2004) Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet 364: 1169-1171. (Pubitemid 39296605)
14. Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, et al. (2009) Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459: 569-573.
15. Feuk L, Carson AR, Scherer SW (2006) Structural variation in the human genome. Nat Rev Genet 7: 85-97. (Pubitemid 43128895)
16. Repping S, van Daalen SK, Brown LG, Korver CM, Lange J, et al. (2006) High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nat Genet 38: 463-467.
17. McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, et al. (2006) Common deletion polymorphisms in the human genome. Nat Genet 38: 86-92. (Pubitemid 43011887)
18. Buckland PR (2003) Polymorphically duplicated genes: their relevance to phenotypic variation in humans. Ann Med 35: 308-315.
19. Nguyen DQ, Webber C, Ponting CP (2006) Bias of selection on human copy number variants. PLoS Genet 2: e20.
20. Freeman JL, Perry GH, Feuk L, Redon R, McCarroll SA, et al. (2006) Copy number variation: new insights in genome diversity. Genome Res 16: 949-961. (Pubitemid 44162254)
21. Lupski JR, Stankiewicz P (2005) Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PloS Genet 1: e49.
22. Feuk L, Marshall CR, Wintle RF, Scherer SW (2006) Structural variants: changing the landscape of chromosomes and design of disease studies. Hum Mol Genet 15 Spec No 1: R57-66.
23. Hai R, Pei YF, Shen H, Zhang L, Liu XG, et al. (2011) Genome-wide association study of copy number variation identified gremlin1 as a candidate gene for lean body mass. J Hum Genet 57: 33-37.
24. Deng HW, Deng HY, Liu YJ, Liu YZ, Xu FH, et al. (2002) A genomewide linkage scan for quantitative-trait loci for obesity phenotypes. Am J Hum Genet. 70(5): 1138-1151.
25. Korn JM, Kuruvilla FG, McCarroll SA, Wysoker A, Nemesh J, et al. (2008) Integrated enotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet 40: 1253-1260.
26. McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, et al. (2008) Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 40: 1166-1174.
27. Kathiresan S, Voight BF, Purcell S, Musunuru K, Ardissino D, et al. (2009) Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet 41: 334-341.
28. R Development Core Team (2010) R: A language and environment for statistical computing. R Foundation for Statistical Computing, Vienna, Austria. ISBN 3-900051-07-0. Available: http://www.R-project.org/.
29. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, et al. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38: 904-909. (Pubitemid 44141658)
30. Fisher KA, Miles R (2008) Modeling the acoustic radiation force in microfluidic chambers. J Acoust Soc Am 123: 1862-1865. (Pubitemid 351502966)
31. Saunders A, Lamb T, Pascall J, Hutchings A, Dion C, et al. (2009) Expression of GIMAP1, a GTPase of the immunity-associated protein family, is not upregulated in malaria. Malar J. 8: 53.
32. Schwefel D, Daumke O (2011) GTP-dependent scaffold formation in the GTPase of Immunity Associated Protein family. Small GTPases 2:1: 27-30.
33. Raymond F, Metairon S, Kussmann M, Colomer J, Nascimento A, et al. (2010) Comparative gene expression profiling between human cultured myotubes and skeletal muscle tissue. BMC Genomics 11: 125.
34. Liaubet L, Lobjois V, Faraut T, Tircazes A, Benne F, et al. (2011) Genetic variability of transcript abundance in pig peri-mortem skeletal muscle: eQTL localized genes involved in stress response, cell death, muscle disorders and metabolism. BMC Genomics 12: 548.
35. Ravnik-Glavač M, Hrašovec S, Bon J, Dreu J, Glavač D (2012) Genome-wide expression changes in a higher state of consciousness. Consciousness and Cognition 21(3): 1322-1344.
36. Sadusky TJ, Kemp TJ, Simon M, Carey N, Coulton GR (2001) Identification of Serhl, a new member of the serine hydrolase family induced by passive stretch of skeletal muscle in vivo. Genomics 73: 38-49. (Pubitemid 32382385)
37. Economou M, Trikalinos TA, Loizou KT, Tsianos EV, Ioannidis JP (2004) Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis. Am J Gastroenterol 99: 2393-2404. (Pubitemid 40039371)