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BioMed Research International
Volume 2017, Article ID 5845849, 8 pages
https://doi.org/10.1155/2017/5845849
Research Article

HIF1A (rs11549465) and AKNA (rs10817595) Gene Polymorphisms Are Associated with Primary Sjögren’s Syndrome

1Department of Immunology and Rheumatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico
2Department of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City, Mexico
3Synovial Fluid Laboratory, Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra, Mexico City, Mexico
4Biological and Health Sciences PhD Program, Universidad Autónoma Metropolitana Iztapalapa, Mexico City, Mexico

Correspondence should be addressed to Gabriela Angélica Martínez-Nava; moc.liamg@ecitsuj.airema

Received 23 January 2017; Revised 6 March 2017; Accepted 23 March 2017; Published 6 April 2017

Academic Editor: Louise E. Glover

Copyright © 2017 Gabriela Hernández-Molina 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. M. Ramos-Casals and J. Font, “Primary Sjögren's syndrome: current and emergent aetiopathogenic concepts,” Rheumatology, vol. 44, no. 11, pp. 1354–1367, 2005. View at Publisher · View at Google Scholar · View at Scopus
  2. J. M. Kramer, “Early events in Sjögren's Syndrome pathogenesis: the importance of innate immunity in disease initiation,” Cytokine, vol. 67, no. 2, pp. 92–101, 2014. View at Publisher · View at Google Scholar · View at Scopus
  3. W. G. Feero, A. E. Guttmacher, and F. S. Collins, “Genomic medicine—an updated primer,” The New England Journal of Medicine, vol. 362, no. 21, pp. 2001–2011, 2010. View at Publisher · View at Google Scholar · View at Scopus
  4. P. D. Burbelo, K. Ambatipudi, and I. Alevizos, “Genome-wide association studies in Sjögren's syndrome: what do the genes tell us about disease pathogenesis?” Autoimmunity Reviews, vol. 13, no. 7, pp. 756–761, 2014. View at Publisher · View at Google Scholar · View at Scopus
  5. G. L. Semenza, “HIF-1: mediator of physiological and pathophysiological responses to hypoxia,” Journal of Applied Physiology, vol. 88, no. 4, pp. 1474–1480, 2000. View at Google Scholar · View at Scopus
  6. J. Fernández-Torres, C. Hernández-Díaz, R. Espinosa-Morales et al., “Polymorphic variation of hypoxia inducible factor-1 a (HIF1A) gene might contribute to the development of knee osteoarthritis: a pilot study,” BMC Musculoskeletal Disorders, vol. 16, no. 1, article 218, 2015. View at Publisher · View at Google Scholar · View at Scopus
  7. A. Palazon, A. W. Goldrath, V. Nizet, and R. S. Johnson, “HIF transcription factors, inflammation, and immunity,” Immunity, vol. 41, no. 4, pp. 518–528, 2014. View at Publisher · View at Google Scholar · View at Scopus
  8. E. V. Dang, J. Barbi, H.-Y. Yang et al., “Control of TH17/Treg balance by hypoxia-inducible factor 1,” Cell, vol. 146, no. 5, pp. 772–784, 2011. View at Publisher · View at Google Scholar · View at Scopus
  9. A. Sakai, Y. Sugawara, T. Kuroishi, T. Sasano, and S. Sugawara, “Identification of IL-18 and Th17 cells in salivary glands of patients with Sjögren's syndrome, and amplification of IL-17-mediated secretion of inflammatory cytokines from salivary gland cells by IL-18,” The Journal of Immunology, vol. 181, no. 4, pp. 2898–2906, 2008. View at Publisher · View at Google Scholar · View at Scopus
  10. Y. Seo, Y. W. Ji, S. M. Lee et al., “Activation of HIF-1α (hypoxia inducible factor-1α) prevents dry eye-induced acinar cell death in the lacrimal gland,” Cell Death & Disease, vol. 5, no. 6, Article ID e1309, 2014. View at Google Scholar
  11. S. Hua and T. H. Dias, “Hypoxia-Inducible Factor (HIF) as a target for novel therapies in rheumatoid arthritis,” Frontiers in Pharmacology, vol. 7, article 184, 2016. View at Publisher · View at Google Scholar · View at Scopus
  12. Z.-C. Yang and Y. Liu, “Hypoxia-inducible factor-1α and autoimmune lupus, arthritis,” Inflammation, vol. 39, no. 3, pp. 1268–1273, 2016. View at Publisher · View at Google Scholar · View at Scopus
  13. J. C. Sims-Mourtada, S. Bruce, M. R. McKeller et al., “The human AKNA gene expresses multiple transcripts and protein isoforms as a result of alternative promoter usage, splicing, and polyadenylation,” DNA and Cell Biology, vol. 24, no. 5, pp. 325–338, 2005. View at Publisher · View at Google Scholar · View at Scopus
  14. G. A. Martínez-Nava, K. Torres-Poveda, A. Lagunas-Martínez et al., “Cervical cancer-associated promoter polymorphism affects AKNA expression levels,” Genes and Immunity, vol. 16, no. 1, pp. 43–53, 2015. View at Publisher · View at Google Scholar · View at Scopus
  15. C. Chen, C. Bartenhagen, M. Gombert et al., “Next-generation-sequencing of recurrent childhood high hyperdiploid acute lymphoblastic leukemia reveals mutations typically associated with high risk patients,” Leukemia Research, vol. 39, no. 9, pp. 990–1001, 2015. View at Publisher · View at Google Scholar · View at Scopus
  16. L. Mao, P. Yang, S. Hou, F. Li, and A. Kijlstra, “Label-free proteomics reveals decreased expression of CD18 and AKNA in Peripheral CD4+ T Cells from patients with Vogt-Koyanagi-Harada syndrome,” PLoS ONE, vol. 6, no. 1, Article ID e14616, 2011. View at Publisher · View at Google Scholar · View at Scopus
  17. N. Papic, C. I. Maxwell, D. A. Delker, S. Liu, B. S. E. Heale, and C. H. Hagedorn, “RNA-sequencing analysis of 5' capped RNAs identifies many new differentially expressed genes in acute hepatitis C virus infection,” Viruses, vol. 4, no. 4, pp. 581–612, 2012. View at Publisher · View at Google Scholar · View at Scopus
  18. C. Vitali, S. Bombardieri, R. Jonsson et al., “Classification criteria for Sjögren's syndrome: a revised version of the European criteria proposed by the American-European Consensus Group,” Annals of the Rheumatic Diseases, vol. 61, no. 6, pp. 554–558, 2002. View at Publisher · View at Google Scholar · View at Scopus
  19. D. K. Lahiri and J. I. Numberger Jr., “A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies,” Nucleic Acids Research, vol. 19, article 5444, 1991. View at Publisher · View at Google Scholar · View at Scopus
  20. J.-H. Tao, J. Barbi, and F. Pan, “Hypoxia-inducible factors in T lymphocyte differentiation and function. A review in the theme: cellular responses to hypoxia,” American Journal of Physiology—Cell Physiology, vol. 309, no. 9, pp. C580–C589, 2015. View at Publisher · View at Google Scholar · View at Scopus
  21. L. D'Ignazio, D. Bandarra, and S. Rocha, “NF-κB and HIF crosstalk in immune responses,” FEBS Journal, vol. 283, no. 3, pp. 413–424, 2016. View at Publisher · View at Google Scholar · View at Scopus
  22. S. A. Gerber and J. S. Pober, “IFN-α induces transcription of hypoxia-inducible factor-1α to inhibit proliferation of human endothelial cells,” Journal of Immunology, vol. 181, no. 2, pp. 1052–1062, 2008. View at Publisher · View at Google Scholar · View at Scopus
  23. F. Hu, H. Liu, L. Xu et al., “Hypoxia-inducible factor-1α perpetuates synovial fibroblast interactions with T cells and B cells in rheumatoid arthritis,” European Journal of Immunology, vol. 46, no. 3, pp. 742–751, 2016. View at Publisher · View at Google Scholar · View at Scopus
  24. A. Nezos, F. Gravani, A. Tassidou et al., “Type I and II interferon signatures in Sjogren's syndrome pathogenesis: contributions in distinct clinical phenotypes and Sjogren's related lymphomagenesis,” Journal of Autoimmunity, vol. 63, pp. 47–58, 2015. View at Publisher · View at Google Scholar · View at Scopus
  25. E. T. Clambey, E. N. McNamee, J. A. Westrich et al., “Hypoxia-inducible factor-1 alpha-dependent induction of FoxP3 drives regulatory T-cell abundance and function during inflammatory hypoxia of the mucosa,” Proceedings of the National Academy of Sciences of the United States of America, vol. 109, no. 41, pp. E2784–E2793, 2012. View at Publisher · View at Google Scholar · View at Scopus
  26. H. Kojima, H. Gu, S. Nomura et al., “Abnormal B lymphocyte development and autoimmunity in hypoxia-inducible factor 1α-deficient chimeric mice,” Proceedings of the National Academy of Sciences of the United States of America, vol. 99, no. 4, pp. 2170–2174, 2002. View at Publisher · View at Google Scholar · View at Scopus
  27. W. Gao, J. McCormick, M. Connolly et al., “Hypoxia and STAT3 signalling interactions regulate pro-inflammatory pathways in rheumatoid arthritis,” Annals of the Rheumatic Diseases, vol. 74, no. 6, pp. 1275–1283, 2015. View at Publisher · View at Google Scholar · View at Scopus
  28. W. Deng, Y. Ren, X. Feng et al., “Hypoxia inducible factor-1 alpha promotes mesangial cell proliferation in lupus nephritis,” American Journal of Nephrology, vol. 40, no. 6, pp. 507–515, 2014. View at Publisher · View at Google Scholar · View at Scopus
  29. S. C. Clifford, D. Astuti, L. Hooper, P. H. Maxwell, P. J. Ratcliffe, and E. R. Maher, “The pVHL-associated SCF ubiquitin ligase complex: molecular genetic analysis of elongin B and C, Rbx1 and HIF-1α in renal cell carcinoma,” Oncogene, vol. 20, no. 36, pp. 5067–5074, 2001. View at Publisher · View at Google Scholar · View at Scopus
  30. K. Tanimoto, K. Yoshiga, H. Eguchi et al., “Hypoxia-inducible factor-1α polymorphisms associated with enhanced transactivation capacity, implying clinical significance,” Carcinogenesis, vol. 24, no. 11, pp. 1779–1783, 2003. View at Publisher · View at Google Scholar · View at Scopus
  31. J. M. Hong, T.-H. Kim, S.-C. Chae et al., “Association study of hypoxia inducible factor 1α (HIF1α) with osteonecrosis of femoral head in a Korean population,” Osteoarthritis and Cartilage, vol. 15, no. 6, pp. 688–694, 2007. View at Publisher · View at Google Scholar · View at Scopus
  32. K. B. Norheim, S. Le Hellard, G. Nordmark et al., “A possible genetic association with chronic fatigue in primary Sjögren's syndrome: a candidate gene study,” Rheumatology International, vol. 34, no. 2, pp. 191–197, 2014. View at Publisher · View at Google Scholar · View at Scopus
  33. A. Siddiqa, J. C. Sims-Mourtada, L. Guzman-Rojas et al., “Regulation of CD40 and CD40 ligand by the AT-hook transcription factor AKNA,” Nature, vol. 410, no. 6826, pp. 383–387, 2001. View at Publisher · View at Google Scholar · View at Scopus
  34. M. F. Mackey, J. R. Gunn, C. Maliszewsky, H. Kikutani, R. J. Noelle, and R. J. Barth Jr., “Dendritic cells require maturation via CD40 to generate protective antitumor immunity,” The Journal of Immunology, vol. 161, no. 5, pp. 2094–2098, 1998. View at Google Scholar · View at Scopus
  35. A. L. Peters, L. L. Stunz, and G. A. Bishop, “CD40 and autoimmunity: the dark side of a great activator,” Seminars in Immunology, vol. 21, no. 5, pp. 293–300, 2009. View at Publisher · View at Google Scholar · View at Scopus
  36. A. Goules, A. G. Tzioufas, M. N. Manousakis, K. A. Kirou, M. K. Crow, and J. G. Routsias, “Elevated levels of soluble CD40 ligand (sCD40L) in serum of patients with systemic autoimmune diseases,” Journal of Autoimmunity, vol. 26, no. 3, pp. 165–171, 2006. View at Publisher · View at Google Scholar · View at Scopus
  37. R. Belkhir, N. Gestermann, M. Koutero et al., “Upregulation of membrane-bound CD40L on CD4+ T cells in women with primary Sjögren's syndrome,” Scandinavian Journal of Immunology, vol. 79, no. 1, pp. 37–42, 2014. View at Publisher · View at Google Scholar · View at Scopus
  38. W. Ma, B. Ortiz-Quintero, R. Rangel et al., “Coordinate activation of inflammatory gene networks, alveolar destruction and neonatal death in AKNA deficient mice,” Cell Research, vol. 21, no. 11, pp. 1564–1577, 2011. View at Publisher · View at Google Scholar · View at Scopus
  39. I. Song, H. Chen, Y. Lin et al., “Identification of susceptibility gene associated with female primary Sjögren’s syndrome in Han Chinese by genome-wide association study,” Human Genetics, vol. 135, no. 11, pp. 1287–1294, 2016. View at Publisher · View at Google Scholar
  40. K. E. Taylor, Q. Wong, D. M. Levine et al., “Genome-wide association analysis reveals genetic heterogeneity of Sjögren's syndrome according to ancestry,” Arthritis & Rheumatology, 2017. View at Publisher · View at Google Scholar
  41. G. R. Abecasis, A. Auton, L. D. Brooks et al., “An integrated map of genetic variation from 1,092 human genomes,” Nature, vol. 491, pp. 56–65, 2012. View at Google Scholar