Table of Contents Author Guidelines Submit a Manuscript
Journal of Obesity
Volume 2015, Article ID 623431, 7 pages
http://dx.doi.org/10.1155/2015/623431
Research Article

A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity

1Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA
2Cardiovascular Genetics Division, University of Utah School of Medicine, Salt Lake City, UT 84112, USA
3Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT 84112, USA
4ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
5Department of Genetic Medicine, Weill Cornell Medical College in Qatar, Doha, Qatar

Received 18 August 2015; Accepted 20 December 2015

Academic Editor: Eric Doucet

Copyright © 2015 Sandra J. Hasstedt et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. C. H. Sandholt, T. Hansen, and O. Pedersen, “Beyond the fourth wave of genome-wide obesity association studies,” Nutrition and Diabetes, vol. 2, article e37, 2012. View at Publisher · View at Google Scholar · View at Scopus
  2. D. Zegers, S. Beckers, R. Hendrickx et al., “Prevalence of rare MC3R variants in obese cases and lean controls,” Endocrine, vol. 44, no. 2, pp. 386–390, 2013. View at Publisher · View at Google Scholar · View at Scopus
  3. D. F. Conrad, D. Pinto, R. Redon et al., “Origins and functional impact of copy number variation in the human genome,” Nature, vol. 464, no. 7289, pp. 704–712, 2010. View at Publisher · View at Google Scholar · View at Scopus
  4. R. E. Peterson, H. H. Maes, P. Lin et al., “On the association of common and rare genetic variation influencing body mass index: a combined SNP and CNV analysis,” BMC Genomics, vol. 15, no. 1, article 368, 2014. View at Publisher · View at Google Scholar · View at Scopus
  5. W. Zhao, N. E. Wineinger, H. K. Tiwari et al., “Copy number variations associated with obesity-related traits in African Americans: a joint analysis between GENOA and HyperGEN,” Obesity, vol. 20, no. 12, pp. 2431–2437, 2012. View at Publisher · View at Google Scholar · View at Scopus
  6. T.-L. Yang, Y. Guo, H. Shen et al., “Copy number variation on chromosome 10q26.3 for obesity identified by a genome-wide study,” The Journal of Clinical Endocrinology & Metabolism, vol. 98, no. 1, pp. E191–E195, 2013. View at Publisher · View at Google Scholar · View at Scopus
  7. B.-Y. Sha, T.-L. Yang, L.-J. Zhao et al., “Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population,” Journal of Human Genetics, vol. 54, no. 4, pp. 199–202, 2009. View at Publisher · View at Google Scholar · View at Scopus
  8. C. Sun, M. Cao, J. Shi et al., “Copy number variations of obesity relevant loci associated with body mass index in young Chinese,” Gene, vol. 516, no. 2, pp. 198–203, 2013. View at Publisher · View at Google Scholar · View at Scopus
  9. I. Jarick, C. I. G. Vogel, S. Scherag et al., “Novel common copy number variation for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysis,” Human Molecular Genetics, vol. 20, no. 4, Article ID ddq518, pp. 840–852, 2011. View at Publisher · View at Google Scholar · View at Scopus
  10. C. J. Willer, E. K. Speliotes, R. J. Loos et al., “Six new loci associated with body mass index highlight a neuronal influence on body weight regulation,” Nature Genetics, vol. 41, no. 1, pp. 25–34, 2009. View at Google Scholar
  11. E. K. Speliotes, C. J. Willer, S. I. Berndt et al., “Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index,” Nature Genetics, vol. 42, no. 11, pp. 937–948, 2010. View at Publisher · View at Google Scholar
  12. T.-L. Yang, Y. Guo, S. M. Li et al., “Ethnic differentiation of copy number variation on chromosome 16p12.3 for association with obesity phenotypes in European and Chinese populations,” International Journal of Obesity, vol. 37, no. 2, pp. 188–190, 2013. View at Publisher · View at Google Scholar · View at Scopus
  13. R. G. Walters, S. Jacquemont, A. Valsesia et al., “A new highly penetrant form of obesity due to deletions on chromosome 16p11.2,” Nature, vol. 463, no. 7281, pp. 671–675, 2010. View at Publisher · View at Google Scholar · View at Scopus
  14. R. Bachmann-Gagescu, H. C. Mefford, C. Cowan et al., “Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity,” Genetics in Medicine, vol. 12, no. 10, pp. 641–647, 2010. View at Publisher · View at Google Scholar · View at Scopus
  15. E. G. Bochukova, N. Huang, J. Keogh et al., “Large, rare chromosomal deletions associated with severe early-onset obesity,” Nature, vol. 463, no. 7281, pp. 666–670, 2010. View at Publisher · View at Google Scholar · View at Scopus
  16. S. Jacquemont, A. Reymond, F. Zufferey et al., “Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus,” Nature, vol. 478, no. 7367, pp. 97–102, 2011. View at Publisher · View at Google Scholar
  17. R. G. Walters, L. J. Coin, A. Ruokonen et al., “Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity,” PLoS ONE, vol. 8, no. 3, Article ID e58048, 2013. View at Google Scholar
  18. K. Wang, W.-D. Li, J. T. Glessner, S. F. A. Grant, H. Hakonarson, and R. A. Price, “Large copy-number variations are enriched in cases with moderate to extreme obesity,” Diabetes, vol. 59, no. 10, pp. 2690–2694, 2010. View at Publisher · View at Google Scholar · View at Scopus
  19. E. Wheeler, N. Huang, E. G. Bochukova et al., “Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity,” Nature Genetics, vol. 45, no. 5, pp. 513–517, 2013. View at Publisher · View at Google Scholar · View at Scopus
  20. M.-L. Vuillaume, S. Naudion, G. Banneau et al., “New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity,” American Journal of Medical Genetics A, vol. 164, no. 8, pp. 1965–1975, 2014. View at Publisher · View at Google Scholar · View at Scopus
  21. S. G. Helder and D. A. Collier, “The genetics of eating disorders,” in Behavioral Neurobiology of Eating Disorders, vol. 6 of Current Topics in Behavioral Neurosciences, pp. 157–175, Springer, Berlin, Germany, 2011. View at Publisher · View at Google Scholar
  22. R. R. Williams, S. C. Hunt, G. K. Barlow et al., “Health family trees: a tool for finding and helping young family members of coronary and cancer prone pedigrees in Texas and Utah,” American Journal of Public Health, vol. 78, no. 10, pp. 1283–1286, 1988. View at Publisher · View at Google Scholar · View at Scopus
  23. T. D. Adams, E. Avelar, T. Cloward et al., “Design and rationale of the Utah obesity study. A study to assess morbidity following gastric bypass surgery,” Contemporary Clinical Trials, vol. 26, no. 5, pp. 534–551, 2005. View at Publisher · View at Google Scholar · View at Scopus
  24. G. Marenne, F. X. Real, N. Rothman et al., “Genome-wide CNV analysis replicates the association between GSTM1 deletion and bladder cancer: a support for using continuous measurement from SNP-array data,” BMC Genomics, vol. 13, article 326, 2012. View at Publisher · View at Google Scholar · View at Scopus
  25. S. J. Hasstedt, “jPAP: document-driven software for genetic analysis,” Genetic Epidemiology, vol. 29, article 255, 2005. View at Google Scholar
  26. S. J. Hasstedt and A. Thomas, “Detecting pleiotropy and epistasis using variance components linkage analysis in jPAP,” Human Heredity, vol. 72, no. 4, pp. 258–263, 2011. View at Publisher · View at Google Scholar · View at Scopus
  27. S. G. Self and K.-Y. Liang, “Asymptotic properties of maximum likelihood estimators and likelihood ratio tests under nonstandard conditions,” Journal of the American Statistical Association, vol. 82, no. 398, pp. 605–610, 1987. View at Publisher · View at Google Scholar · View at MathSciNet
  28. R. Redon, S. Ishikawa, K. R. Fitch et al., “Global variation in copy number in the human genome,” Nature, vol. 444, no. 7118, pp. 444–454, 2006. View at Publisher · View at Google Scholar · View at Scopus
  29. D. Hesse, A. Jaschke, B. Chung, and A. Schürmann, “Trans-Golgi proteins participate in the control of lipid droplet and chylomicron formation,” Bioscience Reports, vol. 33, no. 1, article A1, pp. 1–9, 2013. View at Publisher · View at Google Scholar · View at Scopus
  30. D. Hesse, A. Jaschke, T. Kanzleiter et al., “GTPase ARFRP1 is essential for normal hepatic glycogen storage and insulin-like growth factor 1 secretion,” Molecular and Cellular Biology, vol. 32, no. 21, pp. 4363–4374, 2012. View at Publisher · View at Google Scholar · View at Scopus
  31. S. Stone, V. Abkevich, D. L. Russell et al., “TBC1D1 is a candidate for a severe obesity gene and evidence for a gene/ gene interaction in obesity predisposition,” Human Molecular Genetics, vol. 15, no. 18, pp. 2709–2720, 2006. View at Publisher · View at Google Scholar · View at Scopus
  32. S. C. Hunt, V. Abkevich, C. H. Hensel et al., “Linkage of body mass index to chromosome 20 in Utah pedigrees,” Human Genetics, vol. 109, no. 3, pp. 279–285, 2001. View at Publisher · View at Google Scholar · View at Scopus
  33. I. B. Borecki, T. Rice, L. Pérusse, C. Bouchard, and D. C. Rao, “An exploratory investigation of genetic linkage with body composition and fatness phenotypes: the Québec Family Study,” Obesity Research, vol. 2, no. 3, pp. 213–219, 1994. View at Publisher · View at Google Scholar · View at Scopus
  34. J. H. Lee, D. R. Reed, W. D. Li, J. H. Lee et al., “Genome scan for human obesity and linkage to markers in 20q13,” The American Journal of Human Genetics, vol. 64, no. 1, pp. 196–209, 1999. View at Publisher · View at Google Scholar
  35. D. Shmulewitz, S. C. Heath, M. L. Blundell et al., “Linkage analysis of quantitative traits for obesity, diabetes, hypertension, and dyslipidemia on the island of Kosrae, Federated States of Micronesia,” Proceedings of the National Academy of Sciences of the United States of America, vol. 103, no. 10, pp. 3502–3509, 2006. View at Publisher · View at Google Scholar · View at Scopus
  36. J. Kettunen, M. Perola, N. G. Martin et al., “Multicenter dizygotic twin cohort study confirms two linkage susceptibility loci for body mass index at 3q29 and 7q36 and identifies three further potential novel loci,” International Journal of Obesity, vol. 33, no. 11, pp. 1235–1242, 2009. View at Publisher · View at Google Scholar · View at Scopus
  37. Y. S. Lee, “Genetics of nonsyndromic obesity,” Current Opinion in Pediatrics, vol. 25, no. 6, pp. 666–673, 2013. View at Publisher · View at Google Scholar · View at Scopus
  38. D. Albuquerque, E. Stice, R. Rodríguez-López, L. Manco, and C. Nóbrega, “Current review of genetics of human obesity: from molecular mechanisms to an evolutionary perspective,” Molecular Genetics and Genomics, vol. 290, no. 4, pp. 1191–1221, 2015. View at Publisher · View at Google Scholar