An investigation of JAK2 mutation in patients with ulcerative colitis with a history of thrombosis

JAK2 mutation and ulcerative colitis

Authors

Keywords:

JAK2, thrombosis, mutation., ulcerative colitis

Abstract

Background/Aim: JAK2 is a gene that provides instructions for making a protein called Janus kinase 2, which is involved in the signaling process that regulates the growth and division of cells. Variations in the JAK2 gene have been associated with several different diseases, including certain blood disorders like myeloproliferative neoplasms (MPNs) and ulcerative colitis (UC). The exact reason for ulcerative colitis is not fully understood. This study aimed to examine the possible role of JAK2 V617F mutation in the etiopathogenesis of ulcerative colitis.

Methods: The included patients were selected with UC and with signs of thrombosis. The DNA isolation was carried out from peripheral blood for all included patients. RT-qPCR methods were used to find JAK2 V617F mutations in UC patients with signs of thrombosis.

Results: 73.3% of the included patients in this study had bloody diarrhea and 80% had abdominal pain. Also, the JAK2 V617F mutation rate was detected in 6.6% of the patients included in the study.

Conclusion: In this study, it was found that the V617F mutation was relatively rare in ulcerative colitis patients and there was no correlation with the JAK2 V617F mutation in most of the ulcerative colitis cases with thrombotic symptoms.

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References

Liu M, Zhu W, Wang J, Zhang J, Guo X, Wang J, et al. Interleukin-23 receptor genetic polymorphisms and ulcerative colitis susceptibility: A meta-analysis. Clin Res Hepatol Gastroenterol. 2015 Sep;39(4):516-25. doi: 10.1016/j.clinre.2014.10.009. DOI: https://doi.org/10.1016/j.clinre.2014.10.009

Sarlos P, Kovesdi E, Magyari L, Banfai Z, Szabo A, Javorhazy A, et al. Genetic update on inflammatory factors in ulcerative colitis: Review of the current literature. World J Gastrointest Pathophysiol. 2014 Aug 15;5(3):304-21. doi: 10.4291/wjgp.v5.i3.304. DOI: https://doi.org/10.4291/wjgp.v5.i3.304

Li J, Tian H, Jiang HJ, Han B. Interleukin-17 SNPs and serum levels increase ulcerative colitis risk: a meta-analysis. World J Gastroenterol. 2014 Nov 14;20(42):15899-909. doi: 10.3748/wjg.v20.i42.15899. DOI: https://doi.org/10.3748/wjg.v20.i42.15899

Obayashi T, Okamoto S, Hisamatsu T, Kamada N, Chinen H, Saito R, et al. IL23 differentially regulates the Th1/Th17 balance in ulcerative colitis and Crohn's disease. Gut. 2008 Dec;57(12):1682-9. doi: 10.1136/gut.2007.135053. DOI: https://doi.org/10.1136/gut.2007.135053

Podolsky DK. Inflammatory bowel disease. N Engl J Med. 2002 Aug 8;347(6):417-29. doi: 10.1056/NEJMra020831. DOI: https://doi.org/10.1056/NEJMra020831

Mitus AJ, Schafer AI. Thrombocytosis and thrombocythemia. Hematol Oncol Clin North Am. 1990 Feb;4(1):157-78. DOI: https://doi.org/10.1016/S0889-8588(18)30511-2

Gilbert HS, Dameshek W. The myeloproliferative disorders. Dis Mon. 1970 Oct:1-52. doi: 10.1016/s0011-5029(70)80012-8. DOI: https://doi.org/10.1016/S0011-5029(70)80012-8

Simons CM, Stratton CW, Kim AS. Peripheral blood eosinophilia as a clue to the diagnosis of an occult Coccidioides infection. Hum Pathol. 2011 Mar;42(3):449-53. doi: 10.1016/j.humpath.2010.09.005. DOI: https://doi.org/10.1016/j.humpath.2010.09.005

Horsted F, West J, Grainge MJ. Risk of venous thromboembolism in patients with cancer: a systematic review and meta-analysis. PLoS Med. 2012;9(7):e1001275. doi: 10.1371/journal.pmed.1001275. DOI: https://doi.org/10.1371/journal.pmed.1001275

Streiff MB, Holmstrom B, Angelini D, Ashrani A, Elshoury A, Fanikos J, et al. Cancer-Associated Venous Thromboembolic Disease, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2021 Oct 15;19(10):1181-1201. doi: 10.6004/jnccn.2021.0047.

Miehsler W, Reinisch W, Valic E, Osterode W, Tillinger W, Feichtenschlager T, et al. Is inflammatory bowel disease an independent and disease specific risk factor for thromboembolism? Gut. 2004 Apr;53(4):542-8. doi: 10.1136/gut.2003.025411. DOI: https://doi.org/10.1136/gut.2003.025411

Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, et al; Cancer Genome Project. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005 Mar 19-25;365(9464):1054-61. doi: 10.1016/S0140-6736(05)71142-9. DOI: https://doi.org/10.1016/S0140-6736(05)71142-9

James C, Ugo V, Le Couédic JP, Staerk J, Delhommeau F, Lacout C, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005 Apr 28;434(7037):1144-8. doi: 10.1038/nature03546. DOI: https://doi.org/10.1038/nature03546

Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005 Apr 28;352(17):1779-90. doi: 10.1056/NEJMoa051113. DOI: https://doi.org/10.1056/NEJMoa051113

Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005 Apr;7(4):387-97. doi: 10.1016/j.ccr.2005.03.023. DOI: https://doi.org/10.1016/j.ccr.2005.03.023

Steensma DP, Dewald GW, Lasho TL, Powell HL, McClure RF, Levine RL, et al. The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes. Blood. 2005 Aug 15;106(4):1207-9. doi: 10.1182/blood-2005-03-1183. DOI: https://doi.org/10.1182/blood-2005-03-1183

Campbell PJ, Scott LM, Buck G, Wheatley K, East CL, Marsden JT, et al; United Kingdom Myeloproliferative Disorders Study Group; Medical Research Council Adult Leukaemia Working Party; Australasian Leukaemia and Lymphoma Group. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet. 2005 Dec 3;366(9501):1945-53. doi: 10.1016/S0140-6736(05)67785-9. DOI: https://doi.org/10.1016/S0140-6736(05)67785-9

Lindauer K, Loerting T, Liedl KR, Kroemer RT. Prediction of the structure of human Janus kinase 2 (JAK2) comprising the two carboxy-terminal domains reveals a mechanism for autoregulation. Protein Eng. 2001 Jan;14(1):27-37. doi: 10.1093/protein/14.1.27. DOI: https://doi.org/10.1093/protein/14.1.27

Yang SK, Jung Y, Kim H, Hong M, Ye BD, Song K. Association of FCGR2A, JAK2 or HNF4A variants with ulcerative colitis in Koreans. Dig Liver Dis. 2011 Nov;43(11):856-61. doi: 10.1016/j.dld.2011.07.006. DOI: https://doi.org/10.1016/j.dld.2011.07.006

Prager M, Büttner J, Haas V, Baumgart DC, Sturm A, Zeitz M, et al. The JAK2 variant rs10758669 in Crohn's disease: altering the intestinal barrier as one mechanism of action. Int J Colorectal Dis. 2012 May;27(5):565-73. doi: 10.1007/s00384-011-1345-y. DOI: https://doi.org/10.1007/s00384-011-1345-y

Karimi O, Crusius JB, Coucoutsi C, Heijmans R, Sambuelli AM, Peña AS, Koutroubakis IE. JAK2 V617F mutation is not involved in thromboembolism in IBD. Inflamm Bowel Dis. 2008 Nov;14(11):1606-7. doi: 10.1002/ibd.20471. DOI: https://doi.org/10.1002/ibd.20471

Can G, Tezel A, Gürkan H, Tozkır H, Ünsal G, Soylu AR, et al. Investigation of IL23R, JAK2, and STAT3 gene polymorphisms and gene-gene interactions in Crohn's disease and ulcerative colitis in a Turkish population. Turk J Gastroenterol. 2016 Nov;27(6):525-36. doi: 10.5152/tjg.2016.16327. DOI: https://doi.org/10.5152/tjg.2016.16327

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Published

2023-03-30

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Research Article

How to Cite

1.
Buran T, Batır MB, Çam FS, Kasap E. An investigation of JAK2 mutation in patients with ulcerative colitis with a history of thrombosis: JAK2 mutation and ulcerative colitis. J Surg Med [Internet]. 2023 Mar. 30 [cited 2024 Feb. 21];7(3):245-8. Available from: https://jsurgmed.com/article/view/7771