Genome-wide Association Study Suggested Copy Number Variation May Be Associated with Body Mass Index in the Chinese Population

Overview

Journal J Hum Genet

Specialty Genetics

Date 2009 Feb 21

PMID 19229253

Citations 42

Authors

Bao-Yong Sha

Tie-Lin Yang

Lan-Juan Zhao

Xiang-Ding Chen

Yan Guo

Yuan Chen

Feng Pan

Zhi-Xin Zhang

Shan-Shan Dong

Xiang-Hong Xu

Hong-Wen Deng

Affiliations

Soon will be listed here.

Abstract

Obesity is a major public health problem characterized with high body mass index (BMI). Copy number variations (CNVs) have been identified to be associated with complex human diseases. The effect of CNVs on obesity is unknown. In this study, we explored the association of CNVs with BMI in 597 Chinese Han subjects using Affymetrix GeneChip Human Mapping 500K Array Set. We found that one CNV at 10q11.22 (from 46.36 Mb to 46.56 Mb) was associated with BMI (the raw P=0.011). The CNV contributed 1.6% of BMI variation, and it covered one important obesity gene-pancreatic polypeptide receptor 1(PPYR1). It was reported that PPYR1 was a key regulator of energy homeostasis. Our findings suggested that CNV might be potentially important for the BMI variation. In addition, our study suggested that CNV might be used as a genetic marker to locate genes associated with BMI in Chinese population.

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References

Zhou B . Predictive values of body mass index and waist circumference for risk factors of certain related diseases in Chinese adults--study on optimal cut-off points of body mass index and waist circumference in Chinese adults. Biomed Environ Sci. 2002; 15(1):83-96. View

Boutin P, Dina C, Vasseur F, Dubois S, Corset L, Seron K . GAD2 on chromosome 10p12 is a candidate gene for human obesity. PLoS Biol. 2003; 1(3):E68. PMC: 270019. DOI: 10.1371/journal.pbio.0000068. View

Kamiji M, Inui A . Neuropeptide y receptor selective ligands in the treatment of obesity. Endocr Rev. 2007; 28(6):664-84. DOI: 10.1210/er.2007-0003. View

Batterham R, le Roux C, Cohen M, Park A, Ellis S, Patterson M . Pancreatic polypeptide reduces appetite and food intake in humans. J Clin Endocrinol Metab. 2003; 88(8):3989-92. DOI: 10.1210/jc.2003-030630. View

de Smith A, Tsalenko A, Sampas N, Scheffer A, Yamada N, Tsang P . Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases. Hum Mol Genet. 2007; 16(23):2783-94. DOI: 10.1093/hmg/ddm208. View

Ichihara S, Yamada Y . Genetic factors for human obesity. Cell Mol Life Sci. 2007; 65(7-8):1086-98. PMC: 11131721. DOI: 10.1007/s00018-007-7453-8. View

Di X, Matsuzaki H, Webster T, Hubbell E, Liu G, Dong S . Dynamic model based algorithms for screening and genotyping over 100 K SNPs on oligonucleotide microarrays. Bioinformatics. 2005; 21(9):1958-63. DOI: 10.1093/bioinformatics/bti275. View

Ciullo M, Nutile T, Dalmasso C, Sorice R, Bellenguez C, Colonna V . Identification and replication of a novel obesity locus on chromosome 1q24 in isolated populations of Cilento. Diabetes. 2007; 57(3):783-90. DOI: 10.2337/db07-0970. View

Redon R, Ishikawa S, Fitch K, Feuk L, Perry G, Andrews T . Global variation in copy number in the human genome. Nature. 2006; 444(7118):444-54. PMC: 2669898. DOI: 10.1038/nature05329. View

10.

Zhou B . Effect of body mass index on all-cause mortality and incidence of cardiovascular diseases--report for meta-analysis of prospective studies open optimal cut-off points of body mass index in Chinese adults. Biomed Environ Sci. 2002; 15(3):245-52. View

11.

Sainsbury A, Schwarzer C, Couzens M, Jenkins A, Oakes S, Ormandy C . Y4 receptor knockout rescues fertility in ob/ob mice. Genes Dev. 2002; 16(9):1077-88. PMC: 186243. DOI: 10.1101/gad.979102. View

12.

Darby K, Eyre H, Lapsys N, Copeland N, Gilbert D, Couzens M . Assignment of the Y4 receptor gene (PPYR1) to human chromosome 10q11.2 and mouse chromosome 14. Genomics. 1998; 46(3):513-5. DOI: 10.1006/geno.1997.5071. View

13.

Rosmond R . Aetiology of obesity: a striving after wind?. Obes Rev. 2004; 5(4):177-81. DOI: 10.1111/j.1467-789X.2004.00151.x. View

14.

Wong K, deLeeuw R, Dosanjh N, Kimm L, Cheng Z, Horsman D . A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet. 2006; 80(1):91-104. PMC: 1785303. DOI: 10.1086/510560. View

15.

Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P . Large-scale copy number polymorphism in the human genome. Science. 2004; 305(5683):525-8. DOI: 10.1126/science.1098918. View

16.

Marshall C, Noor A, Vincent J, Lionel A, Feuk L, Skaug J . Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet. 2008; 82(2):477-88. PMC: 2426913. DOI: 10.1016/j.ajhg.2007.12.009. View

17.

Mascie-Taylor C, Goto R . Human variation and body mass index: a review of the universality of BMI cut-offs, gender and urban-rural differences, and secular changes. J Physiol Anthropol. 2007; 26(2):109-12. DOI: 10.2114/jpa2.26.109. View

18.

Beckmann J, Estivill X, Antonarakis S . Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet. 2007; 8(8):639-46. DOI: 10.1038/nrg2149. View

19.

Liu Y, Liu X, Wang L, Dina C, Yan H, Liu J . Genome-wide association scans identified CTNNBL1 as a novel gene for obesity. Hum Mol Genet. 2008; 17(12):1803-13. PMC: 2900891. DOI: 10.1093/hmg/ddn072. View

20.

Schmidt P, Naslund E, Gryback P, Jacobsson H, Holst J, Hilsted L . A role for pancreatic polypeptide in the regulation of gastric emptying and short-term metabolic control. J Clin Endocrinol Metab. 2005; 90(9):5241-6. DOI: 10.1210/jc.2004-2089. View