Table of Contents Author Guidelines Submit a Manuscript
BioMed Research International
Volume 2014, Article ID 538564, 8 pages
http://dx.doi.org/10.1155/2014/538564
Research Article

The Gene-Gene Interaction of INSIG-SCAP-SREBP Pathway on the Risk of Obesity in Chinese Children

School of Public Health, Institute of Child and Adolescent Health, Peking University, No. 38 Xueyuan Road, Haidian District, Beijing 100191, China

Received 28 February 2014; Accepted 26 May 2014; Published 17 June 2014

Academic Editor: Abbas Dehghan

Copyright © 2014 Fang-Hong Liu 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. S. U. Raymond, S. Leeder, and H. M. Greenberg, “Obesity and cardiovascular disease in developing countries: a growing problem and an economic threat,” Current Opinion in Clinical Nutrition & Metabolic Care, vol. 9, no. 2, pp. 111–116, 2006. View at Publisher · View at Google Scholar · View at Scopus
  2. A. M. Prentice, “The emerging epidemic of obesity in developing countries,” International Journal of Epidemiology, vol. 35, no. 1, pp. 93–99, 2006. View at Publisher · View at Google Scholar · View at Scopus
  3. Y. Wang and H. Lim, “The global childhood obesity epidemic and the association between socio-economic status and childhood obesity,” International Review of Psychiatry, vol. 24, no. 3, pp. 176–188, 2012. View at Publisher · View at Google Scholar · View at Scopus
  4. M. S. Brown and J. L. Goldstein, “A proteolytic pathway that controls the cholesterol content of membranes, cells, and blood,” Proceedings of the National Academy of Sciences of the United States of America, vol. 96, no. 20, pp. 11041–11048, 1999. View at Publisher · View at Google Scholar · View at Scopus
  5. X. Hua, A. Nohturfft, J. L. Goldstein, and M. S. Brown, “Sterol resistance in CHO cells traced to point mutation in SREBP cleavage-activating protein,” Cell, vol. 87, no. 3, pp. 415–426, 1996. View at Publisher · View at Google Scholar · View at Scopus
  6. J. Sakai, A. Nohturfft, D. Cheng, Y. K. Ho, M. S. Brown, and J. L. Goldstein, “Identification of complexes between the COOH-terminal domains of sterol regulatory element-binding proteins (SREBPS) and SREBP cleavage-activating protein,” The Journal of Biological Chemistry, vol. 272, no. 32, pp. 20213–20221, 1997. View at Publisher · View at Google Scholar · View at Scopus
  7. X. Liu, Y. Li, X. Lu et al., “Interactions among genetic variants from SREBP2 activating-related pathway on risk of coronary heart disease in Chinese Han population,” Atherosclerosis, vol. 208, no. 2, pp. 421–426, 2010. View at Publisher · View at Google Scholar · View at Scopus
  8. T. Yang, P. J. Espenshade, M. E. Wright et al., “Crucial step in cholesterol homeostasis: sterols promote binding of SCAP to INSIG-1, a membrane protein that facilitates retention of SREBPs in ER,” Cell, vol. 110, no. 4, pp. 489–500, 2002. View at Publisher · View at Google Scholar · View at Scopus
  9. D. Yabe, M. S. Brown, and J. L. Goldstein, “Insig-2, a second endoplasmic reticulum protein that binds SCAP and blocks export of sterol regulatory element-binding proteins,” Proceedings of the National Academy of Sciences of the United States of America, vol. 99, no. 20, pp. 12753–12758, 2002. View at Publisher · View at Google Scholar · View at Scopus
  10. A. J. Brown, L. Sun, J. D. Feramisco, M. S. Brown, and J. L. Goldstein, “Cholesterol addition to ER membranes alters conformation of SCAP, the SREBP escort protein that regulates cholesterol metabolism,” Molecular Cell, vol. 10, no. 2, pp. 237–245, 2002. View at Publisher · View at Google Scholar · View at Scopus
  11. A. Herbert, N. P. Gerry, M. B. McQueen et al., “A common genetic variant is associated with adult and childhood obesity,” Science, vol. 312, no. 5771, pp. 279–283, 2006. View at Publisher · View at Google Scholar · View at Scopus
  12. D. H. Hall, T. Rahman, P. J. Avery, and B. Keavney, “INSIG-2 promoter polymorphism and obesity related phenotypes: association study in 1428 members of 248 families,” BMC Medical Genetics, vol. 7, no. 1, article 83, 2006. View at Publisher · View at Google Scholar · View at Scopus
  13. J. Kumar, R. R. Sunkishala, G. Karthikeyan, and S. Sengupta, “The common genetic variant upstream of INSIG2 gene is not associated with obesity in Indian population,” Clinical Genetics, vol. 71, no. 5, pp. 415–418, 2007. View at Publisher · View at Google Scholar · View at Scopus
  14. H. N. Lyon, V. Emilsson, A. Hinney et al., “The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts,” PLoS Genetics, vol. 3, no. 4, article e61, 2007. View at Publisher · View at Google Scholar · View at Scopus
  15. A. J. Smith, J. A. Cooper, L. K. Li, and S. E. Humphries, “INSIG2 gene polymorphism is not associated with obesity in Caucasian, Afro-Caribbean and Indian subjects,” International Journal of Obesity, vol. 31, no. 11, pp. 1753–1755, 2007. View at Publisher · View at Google Scholar · View at Scopus
  16. H. J. Wang, H. Zhang, S. W. Zhang, Y. P. Pan, and J. Ma, “Association of the common genetic variant upstream of INSIG2 gene with obesity related phenotypes in Chinese children and adolescents,” Biomedical and Environmental Sciences, vol. 21, no. 6, pp. 528–536, 2008. View at Publisher · View at Google Scholar · View at Scopus
  17. R. Deka, L. Xu, P. Pal et al., “A tagging SNP in INSIG2 is associated with obesity-related phenotypes among Samoans,” BMC Medical Genetics, vol. 10, no. 1, article 143, 2009. View at Publisher · View at Google Scholar · View at Scopus
  18. M. Fornage, G. Papanicolaou, C. E. Lewis, E. Boerwinkle, and D. S. Siscovick, “Common INSIG2 polymorphisms are associated with age-related changes in body size and high-density lipoprotein cholesterol from young adulthood to middle age,” Metabolism: Clinical and Experimental, vol. 59, no. 8, pp. 1084–1091, 2010. View at Publisher · View at Google Scholar · View at Scopus
  19. S. Le Hellard, F. M. Theisen, M. Haberhausen et al., “Association between the insulin-induced gene 2 (INSIG2) and weight gain in a German sample of antipsychotic-treated schizophrenic patients: perturbation of SREBP-controlled lipogenesis in drug-related metabolic adverse effects?” Molecular Psychiatry, vol. 14, no. 3, pp. 308–317, 2009. View at Publisher · View at Google Scholar · View at Scopus
  20. E. M. Smith, Y. Zhang, T. M. Baye et al., “INSIG1 influences obesity-related hypertriglyceridemia in humans,” The Journal of Lipid Research, vol. 51, no. 4, pp. 701–708, 2010. View at Publisher · View at Google Scholar · View at Scopus
  21. M. Fiegenbaum, F. R. Silveira, C. R. van der Sand et al., “Determinants of variable response to simvastatin treatment: the role of common variants of SCAP, SREBF-1a and SREBF-2 genes,” The Pharmacogenomics Journal, vol. 5, no. 6, pp. 359–364, 2005. View at Publisher · View at Google Scholar · View at Scopus
  22. B. Vedie, X. Jeunemaitre, J. L. Megnien, V. Atger, A. Simon, and N. Moatti, “A new DNA polymorphism in the 5′ untranslated region of the human SREBP-1a is related to development of atherosclerosis in high cardiovascular risk population,” Atherosclerosis, vol. 154, no. 3, pp. 589–597, 2001. View at Publisher · View at Google Scholar · View at Scopus
  23. L. Salek, S. Lutucuta, C. M. Ballantyne, A. M. Gotto Jr., and A. J. Marian, “Effects of SREBF-1a and SCAP polymorphisms on plasma levels of lipids, severity, progression and regression of coronary atherosclerosis and response to therapy with fluvastatin,” Journal of Molecular Medicine, vol. 80, no. 11, pp. 737–744, 2002. View at Google Scholar · View at Scopus
  24. D. Yaju, Y. Ruixing, L. Yiyang et al., “Polymorphism of the sterol regulatory element-binding protein-2 gene and its association with serum lipid levels in the Guangxi Hei Yi Zhuang and Han populations,” The American Journal of the Medical Sciences, vol. 337, no. 1, pp. 14–22, 2009. View at Publisher · View at Google Scholar · View at Scopus
  25. J. X. Liu, J. Liu, Q. Guo, and J. Liu, “Association of sterol regulatory element binding protein-1c genetic polymorphisms rs2297508 and rs11868035 with type 2 diabetes mellitus in Gansu Han and Dongxiang population,” Zhonghua Yi Xue Yi Chuan Xue Za Zhi, vol. 29, no. 3, pp. 328–333, 2012 (Chinese). View at Publisher · View at Google Scholar · View at Scopus
  26. D. Eberlé, K. Clément, D. Meyre et al., “SREBF-1 gene polymorphisms are associated with obesity and type 2 diabetes in French obese and diabetic cohorts,” Diabetes, vol. 53, no. 8, pp. 2153–2157, 2004. View at Publisher · View at Google Scholar · View at Scopus
  27. N. Grarup, K. L. Stender-Petersen, E. A. Andersson et al., “Association of variants in the sterol regulatory element-binding factor 1 (SREBF1) gene with type 2 diabetes, glycemia, and insulin resistance a study of 15,734 Danish subjects,” Diabetes, vol. 57, no. 4, pp. 1136–1142, 2008. View at Publisher · View at Google Scholar · View at Scopus
  28. P. Zavattari, A. Loche, P. Civolani et al., “An INSIG2 polymorphism affects glucose homeostasis in Sardinian obese children and adolescents,” Annals of Human Genetics, vol. 74, no. 5, pp. 381–386, 2010. View at Publisher · View at Google Scholar · View at Scopus
  29. T. Reinehr, A. Hinney, A. M. Toschke, and J. Hebebrand, “Aggravating effect of INSIG2 and FTO on overweight reduction in a one-year lifestyle intervention,” Archives of Disease in Childhood, vol. 94, no. 12, pp. 965–967, 2009. View at Publisher · View at Google Scholar · View at Scopus
  30. D. Wang, J. Ma, S. Zhang et al., “Association of the MC4R V103I polymorphism with obesity: a Chinese case-control study and meta-analysis in 55,195 individuals,” Obesity, vol. 18, no. 3, pp. 573–579, 2010. View at Publisher · View at Google Scholar · View at Scopus
  31. C. Y. Ji, “Report on childhood obesity in China (1)—body mass index reference for screening overweight and obesity in Chinese school-age children,” Biomedical and Environmental Sciences, vol. 18, no. 6, pp. 390–400, 2005. View at Google Scholar · View at Scopus
  32. H. J. Wang, H. Zhang, J. Zhang, Y. Wang, and J. Ma, “Association of abnormal lipid metabolism with INSIG2 gene variant in overweight and obese children,” Zhonghua Liu Xing Bing Xue Za Zhi, vol. 31, no. 6, pp. 650–654, 2010 (Chinese). View at Google Scholar · View at Scopus
  33. X. Gao, “Multiple testing corrections for imputed SNPs,” Genetic Epidemiology, vol. 35, no. 3, pp. 154–158, 2011. View at Publisher · View at Google Scholar · View at Scopus
  34. X. Y. Lou, G. B. Chen, L. Yan et al., “A generalized combinatorial approach for detecting gene-by-gene and gene-by-environment interactions with application to nicotine dependence,” The American Journal of Human Genetics, vol. 80, no. 6, pp. 1125–1137, 2007. View at Publisher · View at Google Scholar · View at Scopus
  35. S. Purcell, B. Neale, K. Todd-Brown et al., “PLINK: a tool set for whole-genome association and population-based linkage analyses,” The American Journal of Human Genetics, vol. 81, no. 3, pp. 559–575, 2007. View at Publisher · View at Google Scholar · View at Scopus
  36. H. Mei, M. L. Cuccaro, and E. R. Martin, “Multifactor dimensionality reduction-phenomics: a novel method to capture genetic heterogeneity with use of phenotypic variables,” The American Journal of Human Genetics, vol. 81, no. 6, pp. 1251–1261, 2007. View at Publisher · View at Google Scholar · View at Scopus
  37. Q. Chen, C. Q. Yu, X. Tang et al., “Interactions of renin-angiotensin system gene polymorphisms and antihypertensive effect of benazepril in Chinese population,” Pharmacogenomics, vol. 12, no. 5, pp. 735–743, 2011. View at Publisher · View at Google Scholar · View at Scopus
  38. H. Shimano, “SREBPs: physiology and pathophysiology of the SREBP family,” The FEBS Journal, vol. 276, no. 3, pp. 616–621, 2009. View at Publisher · View at Google Scholar · View at Scopus
  39. L. Hartwell, “Robust interactions,” Science, vol. 303, no. 5659, pp. 774–775, 2004. View at Publisher · View at Google Scholar · View at Scopus
  40. P. C. Phillips, “Epistasis—the essential role of gene interactions in the structure and evolution of genetic systems,” Nature Reviews Genetics, vol. 9, no. 11, pp. 855–867, 2008. View at Publisher · View at Google Scholar · View at Scopus
  41. Y. J. Liou, Y. M. Bai, E. Lin et al., “Gene-gene interactions of the INSIG1 and INSIG2 in metabolic syndrome in schizophrenic patients treated with atypical antipsychotics,” The Pharmacogenomics Journal, vol. 12, no. 1, pp. 54–61, 2012. View at Publisher · View at Google Scholar · View at Scopus
  42. M. E. Talbert, C. D. Langefeld, J. T. Ziegler, S. M. Haffner, J. M. Norris, and D. W. Bowden, “INSIG2 SNPs associated with obesity and glucose homeostasis traits in hispanics: the IRAS family study,” Obesity, vol. 17, no. 8, pp. 1554–1562, 2009. View at Publisher · View at Google Scholar · View at Scopus
  43. A. Baylin, R. Deka, J. Tuitele, S. Viali, D. E. Weeks, and S. T. Mcgarvey, “INSIG2 variants, dietary patterns and metabolic risk in Samoa,” European Journal of Clinical Nutrition, vol. 67, no. 1, pp. 101–107, 2013. View at Publisher · View at Google Scholar · View at Scopus
  44. Y. Okada, M. Kubo, H. Ohmiya et al., “Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations,” Nature Genetics, vol. 44, no. 3, pp. 302–306, 2012. View at Publisher · View at Google Scholar · View at Scopus