Abstract
Autoimmune gastritis (AIG) is an immuno-mediated disease characterized by the production of antibodies to the parietal cells of the stomach, which leads to the loss of the internal Castle factor and decrease in the production of hydrochloric acid. Diagnosis of AIG remains difficult due to the lack of symptoms at early stages, ineffective or costly screening strategies, and incomplete established etiology. Patients with AIG are at high risk of developing malignant neoplasms and neuroendocrine tumors, and they would greatly benefit from any means to predict the likelihood of developing and the severity of a possible disease. Here, we aim to summarize data on the genetic nature of AIG. We will also describe the clinical picture of AIG, Helicobacter pylori association with it, and elaborate on the pathogenesis of the disease.
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Kahaly, G. J., & Frommer, L. (2019). Autoimmune polyglandular diseases, 2019. Best Practice & Research Clinical Endocrinology & Metabolism, 33(6), 101344. https://doi.org/10.1016/j.beem.2019.101344
Lerner, A., Jeremias, P., & Matthias, T. (2016). The world incidence and prevalence of autoimmune diseases is increasing, 2016. International Journal of Colorectal Diseas, 3(4), 151–155. https://doi.org/10.12691/ijcd-3-4-8
Wiersinga, W., M. (2018). Hashimoto’s Thyroiditis, 2018. In: Vitti P, Hegedüs L, eds. Thyroid diseases. Endocrinology. Springer International Publishing:205-247. https://doi.org/10.1007/978-3-319-45013-1_7
Global Prevalence of Celiac Disease. Celiac Disease Foundation. Published August 23, 2018. Accessed December 29, 2021. https://celiac.org/about-the-foundation/featured-news/2018/08/global-prevalence-of-celiac-disease/
Smith, H., R., Brown A. (2021). Rheumatoid arthritis (RA): practice essentials, background, pathophysiology. Published online July 22, 2021. Accessed January 7, 2022. https://emedicine.medscape.com/article/331715-overview#a5
Bergqvist, C., & Ezzedine, K. (2020). Vitiligo: A review, 2020. Dermatology, 236(6), 571–592. https://doi.org/10.1159/000506103
Lenti, M. V., Rugge, M., Lahner, E., et al. (2020). Autoimmune gastritis, 2020. Nature Reviews. Disease Primers, 6(1), 56. https://doi.org/10.1038/s41572-020-0187-8
Carmel, R. (1996). Prevalence of undiagnosed pernicious anemia in the elderly, 1996. Archives of Internal Medicine, 156(10), 1097–1100.
Busada, J. T., Peterson, K. N., Khadka, S., et al. (2021). Glucocorticoids and androgens protect from gastric metaplasia by suppressing group 2 innate lymphoid cell activation, 2021. Gastroenterology, 161(2), 637-652.e4. https://doi.org/10.1053/j.gastro.2021.04.075
Massironi, S., Cavalcoli, F., Rossi, R. E., et al. (2013). Chronic autoimmune atrophic gastritis associated with primary hyperparathyroidism: A transversal prospective study, 2013. European Journal of Endocrinology., 168(5), 755–761. https://doi.org/10.1530/EJE-12-1067
Chen, W. C., Warner, R. R. P., Harpaz, N., Zhu, H., Roayaie, S., & Kim, M. K. (2019). Gastric neuroendocrine tumor and duodenal gastrinoma with chronic autoimmune atrophic gastritis, 2019. Pancreas, 48(1), 131–134. https://doi.org/10.1097/MPA.0000000000001204
Adar, T., Friedman, M., Rodgers, L. H., Shannon, K. M., Zukerberg, L. R., & Chung, D. C. (2019). Gastric cancer in Lynch syndrome is associated with underlying immune gastriti, 2019. Journal of Medical Genetics, 56(12), 844–845. https://doi.org/10.1136/jmedgenet-2018-105757
Belkovets, A., V, Kurilovich, S., A., Maksimov V., N., Scherbakova L., V., (2020). Genetic polymorphism of the inflammatory cytokines IL-1β and IL-6 in patients with serologically identified atrophic gastritis, 2020. Experimental and Clinical Gastroenterology. (10):25–32. (In Russ.) https://doi.org/10.31146/1682-8658-ecg-182-10-25-32
De Re, V., Repetto, O., De Zorzi, M., et al. (2019). Polymorphism in toll-like receptors and helicobacter pylori motility in autoimmune atrophic gastritis and gastric cancer, 2019. Cancers, 11(5), 648. https://doi.org/10.3390/cancers11050648
Lahner, E., & Annibale, B. (2009). Pernicious anemia: New insights from a gastroenterological point of view, 2009. World Journal of Gastroenterology, 15(41), 5121. https://doi.org/10.3748/wjg.15.5121
Rustgi, S. D., Bijlani, P., & Shah, S. C. (2021). Autoimmune gastritis, with or without pernicious anemia: Epidemiology, risk factors, and clinical management, 2021. Therapeutic Advances in Gastroenterology, 14, 175628482110387. https://doi.org/10.1177/17562848211038771
Dimitrova Kovacheva-Slavova M., Asenov Angelov T., Yankov Valkov H., Ilianov Iliev H., Georgiev Vladimirov B. (2021). Current view on autoimmune gastritis, 2021. In: Maria Roesler B, ed. Gastritis - New Approaches and Treatments. IntechOpen 2019. https://doi.org/10.5772/intechopen.87006
Kamada, T., Haruma, K., Suehimi, M., et al. (2020). Prevalence and clinical characteristics of autoimmune gastritis in patients with severe atrophic gastritis, 2020. General Surgery, 5, 6.
Anaya, J. M., Gómez, L., & Castiblanco, J. (2006). Is there a common genetic basis for autoimmune diseases? 2006. Clinical and Developmental Immunology, 13(2–4), 185–195. https://doi.org/10.1080/17402520600876762
Kulnigg-Dabsch, S. (2016). Autoimmune gastritis, 2016. Wiener Medizinische Wochenschrift, 166(13–14), 424–430. https://doi.org/10.1007/s10354-016-0515-5
De Block, C. E. M., De Leeuw, I. H., & Van Gaal, L. F. (2008). Autoimmune gastritis in type 1 diabetes: A clinically oriented review, 2008. The Journal of Clinical Endocrinology & Metabolism, 93(2), 363–371. https://doi.org/10.1210/jc.2007-2134
Youssefi, M., Tafaghodi, M., Farsiani, H., Ghazvini, K., & Keikha, M. (2021). Helicobacter pylori infection and autoimmune diseases; is there an association with systemic lupus erythematosus, rheumatoid arthritis, autoimmune atrophy gastritis and autoimmune pancreatitis? A systematic review and meta-analysis study, 2021. Journal of Microbiology, Immunology and Infection, 54(3), 359–369. https://doi.org/10.1016/j.jmii.2020.08.011
Weck, M. N., & Brenner, H. (2008). Association of Helicobacter pylori infection with chronic atrophic gastritis: Meta-analyses according to type of disease definition, 2008. International Journal of Cancer, 123(4), 874–881. https://doi.org/10.1002/ijc.23539
Wanstrat, A., & Wakeland, E. (2001). The genetics of complex autoimmune diseases: Non-MHC susceptibility genes, 2001. Nature Immunology, 2(9), 802–809. https://doi.org/10.1038/ni0901-802
Baxter, A. G., Jordan, M. A., Silveira, P. A., Wilson, W. E., & Van Driel, I. R. (2005). Genetic control of susceptibility to autoimmune gastritis, 2005. International Reviews of Immunology, 24(1–2), 55–62. https://doi.org/10.1080/08830180590884404
Silveira, P. A., Wilson, W. E., Esteban, L. M., Jordan, M. A., van Driel, I. R., & Baxter, A. G. (2001). Identification of the Gasa3 and Gasa4 autoimmune gastritis susceptibility genes using congenic mice and partitioned, segregative and interaction analyses, 2001. Immunogenetics, 53(9), 741–750. https://doi.org/10.1007/s00251-001-0391-y
Rodriguez-Castro, K. I., Franceschi, M., Miraglia, C., et al. (2018). Autoimmune diseases in autoimmune atrophic gastritis. Acta Bio Medica Atenei Parmensis, 89(8-S), 100–103. https://doi.org/10.23750/abm.v89i8-S.7919
Larina, A. A., Troshina, E. A., & Ivanova, O. N. (2014). Autoimmune polyglandular syndromes in the adults: the genetic and immunological diagnostic criteria, 2014. Problems of Endocrinology, 60(3), 43–52. https://doi.org/10.14341/probl201460343-52. (In Russ.).
Larina, A. A., & Troshina, E. A. (2013). Autoimmune diseases associated with type 1 diabetes mellitus: possible interplay, 2013. Problems of Endocrinology, 59(1), 35–43. https://doi.org/10.14341/probl201359135-43. (In Russ.).
Husebye, E. S., Anderson, M. S., & Kämpe, O. (2018). Autoimmune polyendocrine syndromes, 2018. New England Journal of Medicine, 378(26), 2543–2544. https://doi.org/10.1056/NEJMc1805308
Batdyeva, A. H., & Popov, A. A. (2017). Znachenie genov sistemy HLA pri prognozirovanii mul’tifaktornyh zabolevanij, 2017. Bulletin of Medical internet Conferences, 7(6), 1069. (In Russ.).
Valitova ER, Yanova TI, Polyakova VV, Berezina OI, Bodunova NA, Bordin DS. (2021). Modern views on ethyopathogenesis and achalasia treatment, 2021. EPh 17(28):62–70. https://doi.org/10.33978/2307-3586-2021-17-28-62-70
Ungar, B., Mathews, J. D., Tait, B. D., & Cowling, D. C. (1981). HLA-DR patterns in pernicious anaemia, 1981. BMJ, 282(6266), 768–770. https://doi.org/10.1136/bmj.282.6266.768
Lahner, E., Spoletini, M., Buzzetti, R., et al. (2010). HLA-DRB1*03 and DRB1*04 are associated with atrophic gastritis in an Italian population, 2010. Digestive and Liver Disease, 42(12), 854–859. https://doi.org/10.1016/j.dld.2010.04.011
Oksanen, A. M. (2010). Immunogenetic characteristics of patients with autoimmune gastritis, 2010. World Journal of Gastroenterology, 16(3), 354. https://doi.org/10.3748/wjg.v16.i3.354
Laisk, T., Lepamets, M., Koel, M., et al. (2021). Genome-wide association study identifies five risk loci for pernicious anemia, 2021. Nature Communications, 12(1), 3761. https://doi.org/10.1038/s41467-021-24051-6
Li X, Thomsen H, Sundquist K, Sundquist J, Försti A, Hemminki K. (2021). Familial risks between pernicious anemia and other autoimmune diseases in the population of Sweden, 2021. Rego M, ed. Autoimmune Diseases. 1–5. https://doi.org/10.1155/2021/8815297
Idris, A. B., Idris, E. B., Ataelmanan, A. E., et al. (2021). First insights into the molecular basis association between promoter polymorphisms of the IL1B gene and Helicobacter pylori infection in the Sudanese population: Computational approach, 2021. BMC Microbiology, 21(1), 16. https://doi.org/10.1186/s12866-020-02072-3
Thye, T., Burchard, G. D., Nilius, M., Müller-Myhsok, B., & Horstmann, R. D. (2003). Genomewide linkage analysis identifies polymorphism in the human interferon-γ receptor affecting Helicobacter pylori infection, 2003. The American Journal of Human Genetics., 72(2), 448–453. https://doi.org/10.1086/367714
Lubani, M. M., Al-Saleh, Q. A., Teebi, A. S., Moosa, A., & Kalaoui, M. H. (1991). Cystic fibrosis and Helicobacter pylori gastritis, megaloblastic anaemia, subnormal mentality and minor anomalies in two siblings: A new syndrome? 1991. European Journal of Pediatrics, 150(4), 253–255. https://doi.org/10.1007/BF01955524
Boz, V., Valencic, E., Girardelli, M., et al. (2021). Case report: refractory autoimmune gastritis responsivE to abatacept in LRBA deficiency, 2021. Frontiers in Immunology, 12, 619246. https://doi.org/10.3389/fimmu.2021.619246
Cuchet-Lourenço, D., Eletto, D., Wu, C., et al. (2018). Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation, 2018. Science, 361(6404), 810–813. https://doi.org/10.1126/science.aar2641
Soto-Solís, R., Romano-Munive, A. F., Santana de Anda, K., & Barreto-Zuñiga, R. (2019). Factores relacionados a tumores neuroendocrinos gástricos, 2019. Revista de Gastroenterología de México, 84(1), 52–56. https://doi.org/10.1016/j.rgmx.2018.03.002. (In Spa.).
Embutnieks, Yu. V., Voynovan, I. N., Kolbasnikov, S. V., & Bordin, D. S. (2017). Autoimmune gastritis: Pathogenesis, modern approaches to diagnosi and treatment, 2017. Pharmateca, S5, 8–15. (In Russ.).
Di Mario, F., Moussa, A. M., Caruana, P., et al. (2003). ‘Serological biopsy’ in first-degree relatives of patients with gastric cancer affected by Helicobacter pylori infection? 2003. Scandinavian Journal of Gastroenterology., 38(12), 1223–1227. https://doi.org/10.1080/00365520310007044
Yu, G., Wang, G. X., Wang, H. G., Mo, F. F., & Tang, B. B. (2019). The value of detecting pepsinogen and gastrin-17 levels in serum for pre-cancerous lesion screening in gastric cancer, 2019. Neoplasma, 66(04), 637–640. https://doi.org/10.4149/neo_2018_180825N647
Paloheimo, L., Tiusanen, T., Suovaniemi, O., & Syrjänen, K. (2021). Serological biomarker test (GastroPanel®) in the diagnosis of functional gastric disorders, Helicobacter pylori and atrophic gastritis in patients examined for dyspeptic symptoms, 2021. Anticancer Research, 41(2), 811–819. https://doi.org/10.21873/anticanres.14833
Belkovets, A. V., Ozhiganova, N. V., Antipenko, A. G., & Kurilovich, S. A. (2020). Autoimmune gastritis in clinical practice, 2020. Experimental and Clinical Gastroenterology, 10, 142–147. https://doi.org/10.31146/1682-8658-ecg-182-10-142-147. (In Russ.).
Lenti, M. V., Lahner, E., Bergamaschi, G., et al. (2019). Cell blood count alterations and patterns of anaemia in autoimmune atrophic gastritis at diagnosis: A multicentre study, 2019. Journal of Clinical Medicine, 8(11), 1992. https://doi.org/10.3390/jcm8111992
Diagnosis of Pernicious Anaemia | Pernicious Anaemia Society. Accessed January 10, 2022. https://pernicious-anaemia-society.org/diagnosis/
Zhang, N., Li, R. H., Ma, L., et al. (2019). Subacute combined degeneration, pernicious anemia and gastric neuroendocrine tumor occured simultaneously caused by autoimmune gastritis, 2019. Frontiers in Neuroscience, 13, 1. https://doi.org/10.3389/fnins.2019.00001
Martin, K., & Bajbouj, M. (2019). OLGA-Gastritis Staging – Prediktor für das Magenkarzinom? 2019. Zeitschrift fur Gastroenterologie, 57(06), 781–782. https://doi.org/10.1055/a-0894-6203. (In Germ.).
Livzan, M. A., Gaus, O. V., Mozgovoi, S. I., & Bordin, D. S. (2021). Chronic autoimmune gastritis: Modern diagnostic principles, 2021. Diagnostics, 11(11), 2113. https://doi.org/10.3390/diagnostics11112113
Kalkan, Ç., & Soykan, I. (2016). Polyautoimmunity in autoimmune gastritis. European Journal of Internal Medicine, 31, 79–83. https://doi.org/10.1016/j.ejim.2016.03.025
Derevyanko, O. S., Ibragimova, L. I., Ragimov, M. R., & Nikonova, T. V. (2018). Autoimmune gastritis: comorbid pathology in type 1 diabetes, 2018. Diabetes Mellitus, 21(5), 404–408. https://doi.org/10.14341/DM9465. (In Russ.).
Levkina, M. V., Bondarenko, E. A., & Shilova, L. N. (2018). Autoimmunnye poliglanduljarnye sindromy, 2018. Lekarstvennyj vestnik., 12(2), 41–45. (In Russ.).
Zingone, F., Marsilio, I., Fassan, M., et al. (2021). Duodenal histological findings and risk of coeliac disease in subjects with autoimmune atrophic gastritis: A retrospective evaluation, 2021. Digestion, 102(4), 615–621. https://doi.org/10.1159/000510354
Yao, J. C., Hassan, M., Phan, A., et al. (2008). One hundred years after “carcinoid”: Epidemiology of and prognostic factors for neuroendocrine tumors in 35,825 cases in the United States, 2008. Journal of Clinical Oncology, 26(18), 3063–3072. https://doi.org/10.1200/JCO.2007.15.4377
Magris, R., De Re, V., Maiero, S., et al. (2020). Low pepsinogen I/II ratio and high gastrin-17 levels typify chronic atrophic autoimmune gastritis patients with gastric neuroendocrine tumors, 2020. Clinical Journal of Gastroenterology, 11(9), e00238.
Treatment by cancer type. NCCN. Accessed January 7, 2022. https://www.nccn.org/guidelines/category_1
Benítez, J., Marra, R., Reyes, J., & Calvete, O. (2020). A genetic origin for acid–base imbalance triggers the mitochondrial damage that explains the autoimmune response and drives to gastric neuroendocrine tumours, 2020. Gastric Cancer, 23(1), 52–63. https://doi.org/10.1007/s10120-019-00982-4
Venerito, M., Radünz, M., Reschke, K., Reinhold, D., Frauenschläger, K., Jechorek, D., Di Mario, F., & Malfertheiner, P. (2015). Autoimmune gastritis in autoimmune thyroid disease. Alimentary Pharmacology & Therapeutics, 41, 686–693. https://doi.org/10.1111/apt.13097
Nehme, F., Rowe, K., Palko, W., Tofteland, N., & Salyers, W. (2014). Autoimmune metaplastic atrophic gastritis and association with neuroendocrine tumors of the stomach, 2014. Clinical Journal of Gastroenterology, 13(3), 299–307. https://doi.org/10.1007/s12328-019-01074-7
Vannella, L., Lahner, E., Osborn, J., & Annibale, B. (2013). Systematic review: Gastric cancer incidence in pernicious anaemia, 2013. Alimentary Pharmacology & Therapeutics, 37(4), 375–382. https://doi.org/10.1111/apt.12177
Weise, F., Vieth, M., Reinhold, D., et al. (2020). Gastric cancer in autoimmune gastritis: A case-control study from the German centers of the staR project on gastric cancer research, 2020. United European Gastroenterology Journal, 8(2), 175–184. https://doi.org/10.1177/2050640619891580
Anderson, W. F., Rabkin, C. S., Turner, N., Fraumeni, J. F., Rosenberg, P. S., & Camargo, M. C. (2018). The changing face of noncardia gastric cancer incidence among US non-Hispanic whites, 2018. JNCI: Journal of the National Cancer Institute, 110(6), 608–615. https://doi.org/10.1093/jnci/djx262
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This paper was supported by the Kazan Federal University Strategic Academic Leadership Program (PRIORITY-2030).
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Concept and design of the study: Vera Polyakova, Natalia Bodunova, Igor Khatkov, Dmitry Bordin, Tatiana Yanova.
Collection and processing of materials: Vera Polyakova, Tatiana Yanova.
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Text writing: Vera Polyakova, Natalia Bodunova, Konstantin Rumyantsev, Dmitry Bordin, Philipp Sviridov, Tatiana Yanova.
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Polyakova, V., Bodunova, N., Rumyantsev, K. et al. Genetic Determinants of Autoimmune Gastritis. BioNanoSci. 13, 322–329 (2023). https://doi.org/10.1007/s12668-023-01068-3
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DOI: https://doi.org/10.1007/s12668-023-01068-3