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Disease Markers
Volume 2015, Article ID 351673, 6 pages
http://dx.doi.org/10.1155/2015/351673
Research Article

Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients

1Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia
2Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia
3Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
4Department of Biology, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia
5Department of Pharmacology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
6BGI, Beishan Industrial Zone, Yantian District, Shenzhen 518083, China
7Department of Pediatrics, King Fahd Armed Forces Hospital, Jeddah, Saudi Arabia
8Department of Pediatrics, Division of Gastroenterology, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia

Received 25 August 2015; Accepted 16 November 2015

Academic Editor: George Perry

Copyright © 2015 Omar I. Saadah 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. A. Di Sabatino and G. R. Corazza, “Coeliac disease,” The Lancet, vol. 373, no. 9673, pp. 1480–1493, 2009. View at Publisher · View at Google Scholar · View at Scopus
  2. A. Fasano and C. Catassi, “Celiac disease,” The New England Journal of Medicine, vol. 367, no. 25, pp. 2419–2426, 2012. View at Publisher · View at Google Scholar · View at Scopus
  3. A. H. Gudjónsdóttir, S. Nilsson, J. Ek, B. Kristiansson, and H. Ascher, “The risk of celiac disease in 107 families with at least two affected siblings,” Journal of Pediatric Gastroenterology and Nutrition, vol. 38, no. 3, pp. 338–342, 2004. View at Publisher · View at Google Scholar · View at Scopus
  4. G. Samaşca, G. Sur, and I. Lupan, “Current trends and investigative developments in celiac disease,” Immunological Investigations, vol. 42, no. 4, pp. 273–284, 2013. View at Publisher · View at Google Scholar · View at Scopus
  5. G. Telega, T. R. Bennet, and S. Werlin, “Emerging new clinical patterns in the presentation of celiac disease,” Archives of Pediatrics and Adolescent Medicine, vol. 162, no. 2, pp. 164–168, 2008. View at Publisher · View at Google Scholar · View at Scopus
  6. M. A. D'Amico, J. Holmes, S. N. Stavropoulos et al., “Presentation of pediatric celiac disease in the United States: prominent effect of breastfeeding,” Clinical Pediatrics, vol. 44, no. 3, pp. 249–258, 2005. View at Publisher · View at Google Scholar · View at Scopus
  7. M. Vives-Pi, S. Takasawa, I. Pujol-Autonell et al., “Biomarkers for diagnosis and monitoring of celiac disease,” Journal of Clinical Gastroenterology, vol. 47, no. 4, pp. 308–313, 2013. View at Publisher · View at Google Scholar · View at Scopus
  8. K. Barada, H. Abu Daya, K. Rostami, and C. Catassi, “Celiac disease in the developing world,” Gastrointestinal Endoscopy Clinics of North America, vol. 22, no. 4, pp. 773–796, 2012. View at Publisher · View at Google Scholar · View at Scopus
  9. M. B. Hariz, M. Kallel-Sellami, L. Kallel et al., “Prevalence of celiac disease in Tunisia: mass-screening study in schoolchildren,” European Journal of Gastroenterology and Hepatology, vol. 19, no. 8, pp. 687–694, 2007. View at Publisher · View at Google Scholar · View at Scopus
  10. M. Abu-Zekry, D. Kryszak, M. Diab, C. Catassi, and A. Fasano, “Prevalence of celiac disease in Egyptian children disputes the east-west agriculture-dependent spread of the disease,” Journal of Pediatric Gastroenterology and Nutrition, vol. 47, no. 2, pp. 136–140, 2008. View at Publisher · View at Google Scholar · View at Scopus
  11. U. Volta and V. Villanacci, “Celiac disease: diagnostic criteria in progress,” Cellular and Molecular Immunology, vol. 8, no. 2, pp. 96–102, 2011. View at Publisher · View at Google Scholar · View at Scopus
  12. D. A. van Heel, L. Franke, K. A. Hunt et al., “A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21,” Nature Genetics, vol. 39, no. 7, pp. 827–829, 2007. View at Publisher · View at Google Scholar · View at Scopus
  13. K. A. Hunt, A. Zhernakova, G. Turner et al., “Newly identified genetic risk variants for celiac disease related to the immune response,” Nature Genetics, vol. 40, no. 4, pp. 395–402, 2008. View at Publisher · View at Google Scholar · View at Scopus
  14. G. Trynka, A. Zhernakova, J. Romanos et al., “Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling,” Gut, vol. 58, no. 8, pp. 1078–1083, 2009. View at Publisher · View at Google Scholar · View at Scopus
  15. E. A. M. Festen, P. Goyette, T. Green et al., “A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease,” PLoS Genetics, vol. 7, no. 1, Article ID e1001283, 2011. View at Publisher · View at Google Scholar · View at Scopus
  16. G. Trynka, K. A. Hunt, N. A. Bockett et al., “Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease,” Nature Genetics, vol. 43, no. 12, pp. 1193–1201, 2011. View at Publisher · View at Google Scholar · View at Scopus
  17. P. C. A. Dubois, G. Trynka, L. Franke et al., “Multiple common variants for celiac disease influencing immune gene expression,” Nature Genetics, vol. 42, no. 4, pp. 295–302, 2010. View at Publisher · View at Google Scholar · View at Scopus
  18. C. P. Garner, J. A. Murray, Y. C. Ding, Z. Tien, D. A. van Heel, and S. L. Neuhausen, “Replication of celiac disease UK genome-wide association study results in a US population,” Human Molecular Genetics, vol. 18, no. 21, pp. 4219–4225, 2009. View at Publisher · View at Google Scholar · View at Scopus
  19. D. A. van Heel, K. Hunt, L. Greco, and C. Wijmenga, “Genetics in coeliac disease,” Best Practice and Research: Clinical Gastroenterology, vol. 19, no. 3, pp. 323–339, 2005. View at Publisher · View at Google Scholar · View at Scopus
  20. M. Ban, J. L. McCauley, R. Zuvich et al., “A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis,” Genes and Immunity, vol. 11, no. 8, pp. 660–664, 2010. View at Publisher · View at Google Scholar · View at Scopus
  21. J. Y. Huang, A. M. Bruno, C. A. Patel et al., “Human membrane metallo-endopeptidase-like protein degrades both beta-amyloid 42 and beta-amyloid 40,” Neuroscience, vol. 155, no. 1, pp. 258–262, 2008. View at Publisher · View at Google Scholar · View at Scopus
  22. S. Raychaudhuri, E. F. Remmers, A. T. Lee et al., “Common variants at CD40 and other loci confer risk of rheumatoid arthritis,” Nature Genetics, vol. 40, no. 10, pp. 1216–1223, 2008. View at Publisher · View at Google Scholar · View at Scopus
  23. A. Barton, W. Thomson, X. Ke et al., “Rheumatoid arthritis susceptibility loci at chromosomes 10p15, 12q13 and 22q13,” Nature Genetics, vol. 40, no. 10, pp. 1156–1159, 2008. View at Publisher · View at Google Scholar · View at Scopus
  24. P. Danoy, M. Wei, H. Johanna et al., “Association of variants in MMEL1 and CTLA4 with rheumatoid arthritis in the Han Chinese population,” Annals of the Rheumatic Diseases, vol. 70, no. 10, pp. 1793–1797, 2011. View at Publisher · View at Google Scholar
  25. M. J. H. Coenen, G. Trynka, S. Heskamp et al., “Common and different genetic background for rheumatoid arthritis and coeliac disease,” Human Molecular Genetics, vol. 18, no. 21, pp. 4195–4203, 2009. View at Publisher · View at Google Scholar · View at Scopus
  26. H. W. Jung, S. J. La, J. Y. Kim et al., “High levels of soluble herpes virus entry mediator in sera of patients with allergic and autoimmune diseases,” Experimental and Molecular Medicine, vol. 35, no. 6, pp. 501–508, 2003. View at Publisher · View at Google Scholar · View at Scopus
  27. G. Auburger, S. Gispert, S. Lahut et al., “12q24 locus association with type 1 diabetes: SH2B3 or ATXN2?” World Journal of Diabetes, vol. 5, no. 3, pp. 316–327, 2014. View at Publisher · View at Google Scholar
  28. L. Plaza-Izurieta, A. Castellanos-Rubio, I. Irastorza et al., “Revisiting genome wide association studies (GWAS) in coeliac disease: replication study in Spanish population and expression analysis of candidate genes,” Journal of Medical Genetics, vol. 48, no. 7, pp. 493–496, 2011. View at Publisher · View at Google Scholar · View at Scopus
  29. A. Zhernakova, C. C. Elbers, B. Ferwerda et al., “Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection,” American Journal of Human Genetics, vol. 86, no. 6, pp. 970–977, 2010. View at Publisher · View at Google Scholar · View at Scopus