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Disease Markers
Volume 2014 (2014), Article ID 291419, 10 pages
http://dx.doi.org/10.1155/2014/291419
Research Article

A New Susceptibility Locus for Myocardial Infarction, Hypertension, Type 2 Diabetes Mellitus, and Dyslipidemia on Chromosome 12q24

1Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia
2King Faisal Heart Institute, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia
3Cardiovascular and Pharmacogenomics Unit, MBC-03-05, Genetics Department, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia

Received 28 January 2014; Revised 15 May 2014; Accepted 28 May 2014; Published 26 June 2014

Academic Editor: Claudio Letizia

Copyright © 2014 Salma M. Wakil 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. D. T. Odom, H. Zizlsperger, D. B. Gordon et al., “Control of pancreas and liver gene expression by HNF transcription factors,” Science, vol. 303, no. 5662, pp. 1378–1381, 2004. View at Publisher · View at Google Scholar · View at Scopus
  2. G. Courtois, J. G. Morgan, L. A. Campbell, G. Fourel, and G. R. Crabtree, “Interaction of a liver-specific nuclear factor with the fibrinogen and α1-antitrypsin promoters,” Science, vol. 238, no. 4827, pp. 688–692, 1987. View at Google Scholar · View at Scopus
  3. S. Cereghini, M. Ott, S. Power, and M. Maury, “Expression patterns of vHNF1 and HNF1 homeoproteins in early postimplantation embryos suggest distinct and sequential developmental roles,” Development, vol. 116, no. 3, pp. 783–797, 1992. View at Google Scholar · View at Scopus
  4. P. Flodby, P. Antonson, C. Barlow, A. Blanck, I. Porsch-Hallstrom, and K. G. Xanthopoulos, “Differential patterns of expression of three C/EBP isoforms, HNF-1, and HNF-4 after partial hepatectomy in rats,” Experimental Cell Research, vol. 208, no. 1, pp. 248–256, 1993. View at Publisher · View at Google Scholar · View at Scopus
  5. L. W. Harries, J. E. Brown, and A. L. Gloyn, “Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes,” PLoS ONE, vol. 4, no. 11, Article ID e7855, 2009. View at Publisher · View at Google Scholar · View at Scopus
  6. B. Jafar-Mohammadi, C. J. Groves, K. R. Owen et al., “Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes,” PLoS ONE, vol. 4, no. 8, Article ID e0006615, 2009. View at Publisher · View at Google Scholar · View at Scopus
  7. D. Q. Shih, M. Bussen, E. Sehayek et al., “Hepatocyte nuclear factor-1α is an essential regulator of bile acid and plasma cholesterol metabolism,” Nature Genetics, vol. 27, no. 4, pp. 375–382, 2001. View at Publisher · View at Google Scholar · View at Scopus
  8. D. Q. Shih, S. Screenan, K. N. Munoz et al., “Loss of HNF-1α function in mice leads to abnormal expression of genes involved in pancreatic islet development and metabolism,” Diabetes, vol. 50, no. 7-12, pp. 2472–2480, 2001. View at Google Scholar · View at Scopus
  9. G. Thanabalasingham, A. Pal, M. P. Selwood et al., “Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young,” Diabetes Care, vol. 35, no. 6, pp. 1206–1212, 2012. View at Publisher · View at Google Scholar · View at Scopus
  10. A. P. Lopez, S. A. Foscaldi, M. S. Perez et al., “HNF1 alpha gene coding regions mutations screening, in a Caucasian population clinically characterized as MODY from Argentina,” Diabetes Research and Clinical Practice, vol. 91, no. 2, pp. 208–212, 2011. View at Publisher · View at Google Scholar · View at Scopus
  11. S. A. Eide, H. Raeder, S. Johansson et al., “Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 study),” Diabetic Medicine, vol. 25, no. 7, pp. 775–781, 2008. View at Publisher · View at Google Scholar · View at Scopus
  12. W. L. Awa, A. Thon, K. Raile et al., “Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database,” European Journal of Endocrinology, vol. 164, no. 4, pp. 513–520, 2011. View at Publisher · View at Google Scholar · View at Scopus
  13. E. A. C. Sellers, B. Triggs-Raine, C. Rockman-Greenberg, and H. J. Dean, “The prevalence of the HNF-1α G319S mutation in Canadian aboriginal youth with type 2 diabetes,” Diabetes Care, vol. 25, no. 12, pp. 2202–2206, 2002. View at Publisher · View at Google Scholar · View at Scopus
  14. C. Collet, M. Ducorps, H. Mayaudon et al., “Prevalence of the missense mutation Gly574Ser in the hepatocyte nuclear factor-1α in Africans with diabetes,” Diabetes and Metabolism, vol. 28, no. 1, pp. 39–44, 2002. View at Google Scholar · View at Scopus
  15. S. Johansson, H. Irgens, K. K. Chudasama et al., “Exome sequencing and genetic testing for MODY,” PLoS ONE, vol. 7, no. 5, Article ID e38050, 2012. View at Publisher · View at Google Scholar · View at Scopus
  16. J. Timsit, C. Bellanné-Chantelot, D. Dubois-Laforgue, and G. Velho, “Diagnosis and management of maturity-onset diabetes of the young,” Treatments in Endocrinology, vol. 4, no. 1, pp. 9–18, 2005. View at Publisher · View at Google Scholar · View at Scopus
  17. K. R. Owen, A. Stride, S. Ellard, and A. T. Hattersley, “Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes,” Diabetes Care, vol. 26, no. 7, pp. 2088–2093, 2003. View at Publisher · View at Google Scholar · View at Scopus
  18. P. J. P. Corrales, M. P. López Garrido, S. A. Rodríguez et al., “Clinical differences between patients with MODY-3, MODY-2 and type 2 diabetes mellitus with I27L polymorphism in the HNF1α gene,” Endocrinologia y Nutricion, vol. 57, no. 1, pp. 4–8, 2010. View at Publisher · View at Google Scholar · View at Scopus
  19. E. Horová, M. Prázný, K. Kaňková, K. Brismar, and H. F. Gu, “Genetic and functional analyses of MRAS and HNF1A genes in diabetes and diabetic nephropathy,” Folia Biologica, vol. 58, no. 3, pp. 121–127, 2012. View at Google Scholar · View at Scopus
  20. R. A. Hegele, “Genes and environment in type 2 diabetes and atherosclerosis in aboriginal Canadians,” Current Atherosclerosis Reports, vol. 3, no. 3, pp. 216–221, 2001. View at Google Scholar · View at Scopus
  21. J. T. E. Shaw, P. K. Lovelock, J. B. Kesting et al., “Novel susceptibility gene for late-onset NIDDM is localized to human chromosome 12q,” Diabetes, vol. 47, no. 11, pp. 1793–1796, 1998. View at Publisher · View at Google Scholar · View at Scopus
  22. R. L. Pollex, A. J. G. Hanley, B. Zinman, S. B. Harris, and R. A. Hegele, “Clinical and genetic associations with hypertriglyceridemic waist in a Canadian aboriginal population,” International Journal of Obesity, vol. 30, no. 3, pp. 484–491, 2006. View at Publisher · View at Google Scholar · View at Scopus
  23. K. C. Chiu, L. M. Chuang, A. Chu, and M. Wang, “Transcription factor 1 and β-cell function in glucose-tolerant subjects,” Diabetic Medicine, vol. 20, no. 3, pp. 225–230, 2003. View at Publisher · View at Google Scholar · View at Scopus
  24. W. Winckler, N. P. Burtt, J. Holmkvist et al., “Association of common variation in the HNF1α gene region with risk of type 2 diabetes,” Diabetes, vol. 54, no. 8, pp. 2336–2342, 2005. View at Publisher · View at Google Scholar · View at Scopus
  25. S. C. Elbein, K. Teng, K. Eddings, D. Hargrove, and E. Scroggin, “Molecular scanning analysis of hepatocyte nuclear factor 1α (TCF1) gene in typical familial type 2 diabetes in african americans,” Metabolism: Clinical and Experimental, vol. 49, no. 2, pp. 280–284, 2000. View at Google Scholar · View at Scopus
  26. N. Babaya, H. Ikegami, Y. Kawaguchi et al., “Hepatocyte nuclear factor-1α gene and non-insulin-dependent diabetes mellitus in the Japanese population,” Acta Diabetologica, vol. 35, no. 3, pp. 150–153, 1998. View at Publisher · View at Google Scholar · View at Scopus
  27. A. P. Reiner, M. J. Barber, Y. Guan et al., “Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1α are associated with C-reactive protein,” The American Journal of Human Genetics, vol. 82, no. 5, pp. 1193–1201, 2008. View at Publisher · View at Google Scholar · View at Scopus
  28. M. E. Kleber, T. B. Grammer, W. Renner, and W. März, “Effect of the rs2259816 polymorphism in the HNF1A gene on circulating levels of c-reactive protein and coronary artery disease (the ludwigshafen risk and cardiovascular health study),” BMC Medical Genetics, vol. 11, no. 1, article 157, 2010. View at Publisher · View at Google Scholar · View at Scopus
  29. P. M. Ridker, G. Pare, A. Parker et al., “Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the women's genome health study,” Thr American Journal of Human Genetics, vol. 82, no. 5, pp. 1185–1192, 2008. View at Publisher · View at Google Scholar · View at Scopus
  30. A. P. Reiner, M. D. Gross, C. S. Carlson et al., “Common coding variants of the HNF1A gene are associated with multiple cardiovascular risk phenotypes in community-based samples of younger and older European-American adults: the coronary artery risk development in young adults study and the cardiovascular health study,” Circulation: Cardiovascular Genetics, vol. 2, no. 3, pp. 244–254, 2009. View at Publisher · View at Google Scholar · View at Scopus
  31. P. Elliott, J. C. Chambers, W. Zhang et al., “Genetic loci associated with C-reactive protein levels and risk of coronary heart disease,” The Journal of the American Medical Association, vol. 302, no. 1, pp. 37–48, 2009. View at Publisher · View at Google Scholar · View at Scopus
  32. M. Kong and C. Lee, “Genetic associations with C-reactive protein level and white blood cell count in the KARE study,” International Journal of Immunogenetics, vol. 40, no. 2, pp. 120–125, 2013. View at Publisher · View at Google Scholar · View at Scopus
  33. N. Vinayagamoorthy, H. J. Hu, S. H. Yim et al., “New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis,” PLoS ONE, vol. 9, no. 4, Article ID e95866, 2014. View at Google Scholar
  34. WHO, “Obesity and overweight,” Fact sheet No. 311, 2013, http://www.who.int/mediacentre/factsheets/fs311/en/.
  35. L. A. Hsu, Y. L. Ko, M. S. Teng et al., “Effect of obesity on the association between common variations in the HNF1A gene region and C-reactive protein level in Taiwanese,” Clinica Chimica Acta, vol. 412, no. 9-10, pp. 725–729, 2011. View at Publisher · View at Google Scholar · View at Scopus
  36. J. Erdmann, A. Großhennig, P. S. Braund et al., “New susceptibility locus for coronary artery disease on chromosome 3q22.3,” Nature Genetics, vol. 41, no. 3, pp. 280–282, 2009. View at Publisher · View at Google Scholar · View at Scopus
  37. S. Kathiresan, C. J. Willer, G. M. Peloso et al., “Common variants at 30 loci contribute to polygenic dyslipidemia,” Nature Genetics, vol. 41, no. 1, pp. 56–65, 2009. View at Publisher · View at Google Scholar · View at Scopus
  38. R. A. Hegele, H. Cao, S. B. Harris, A. J. G. Hanley, B. Zinman, and P. W. Connelly, “The private hepatocyte nuclear factor-1α G319S variant is associated with plasma lipoprotein variation in Canadian Oji-Cree,” Arteriosclerosis, Thrombosis, and Vascular Biology, vol. 20, no. 1, pp. 217–222, 2000. View at Google Scholar · View at Scopus
  39. F. M. A. Giuffrida, G. K. Furuzawa, T. S. Kasamatsu, M. M. Oliveira, A. F. Reis, and S. A. Dib, “HNF1A gene polymorphisms and cardiovascular risk factors in individuals with late-onset autosomal dominant diabetes: a cross-sectional study,” Cardiovascular Diabetology, vol. 8, article 28, 2009. View at Publisher · View at Google Scholar · View at Scopus
  40. D. Dlouhá, J. Piťha, V. Adámková, V. Lánská, and J. A. Hubáček, “Variants within HNF1α and ANGPTL4 genes and acute coronary syndrome in Czech population. The GENDEMIP study,” Neuroendocrinology Letters, vol. 33, supplement 2, pp. 13–16, 2012. View at Google Scholar · View at Scopus
  41. A. Dehghan, J. Dupuis, M. Barbalic et al., “Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels,” Circulation, vol. 123, no. 7, pp. 731–738, 2011. View at Publisher · View at Google Scholar · View at Scopus
  42. American Heart Association, “Arteriosclerosis, thrombosis, and vascular biology annual conference 2007,” Arteriosclerosis, Thrombosis, and Vascular Biology, vol. 27, no. 6, pp. e35–e137, 2007. View at Google Scholar
  43. O. A. Carretero and S. Oparil, “Essential hypertension—part I: definition and etiology,” Circulation, vol. 101, no. 3, pp. 329–335, 2000. View at Google Scholar · View at Scopus
  44. D. J. Schaid, C. M. Rowland, D. E. Tines, R. M. Jacobson, and G. A. Poland, “Score tests for association between traits and haplotypes when linkage phase is ambiguous,” The American Journal of Human Genetics, vol. 70, no. 2, pp. 425–434, 2002. View at Publisher · View at Google Scholar · View at Scopus
  45. S. L. Lake, H. Lyon, K. Tantisira et al., “Estimation and tests of haplotype-environment interaction when linkage phase is ambiguous,” Human Heredity, vol. 55, no. 1, pp. 56–65, 2003. View at Publisher · View at Google Scholar · View at Scopus
  46. L. Qi, L. Parast, T. Cai et al., “Genetic susceptibility to coronary heart disease in type 2 diabetes: 3 independent studies,” Journal of the American College of Cardiology, vol. 58, no. 25, pp. 2675–2682, 2011. View at Publisher · View at Google Scholar · View at Scopus