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

Tahir Buran, M. B. Batır, F. Çam, E. Kasap
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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 73.3% 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.
有血栓病史的溃疡性结肠炎患者JAK2突变的研究
背景/目的:JAK2是一种为制造一种叫做Janus激酶2的蛋白质提供指令的基因,这种蛋白质参与调节细胞生长和分裂的信号传导过程。JAK2基因的变异与几种不同的疾病有关,包括某些血液疾病,如骨髓增生性肿瘤(mpn)和溃疡性结肠炎(UC)。溃疡性结肠炎的确切原因尚不完全清楚。本研究旨在探讨JAK2 V617F突变在溃疡性结肠炎发病机制中的可能作用。方法:选取UC伴血栓形成的患者。从所有纳入的患者的外周血中进行DNA分离。采用RT-qPCR方法在有血栓体征的UC患者中发现JAK2 V617F突变。结果:73.3%的患者有血性腹泻,80%的患者有腹痛。此外,研究中6.6%的患者检测到JAK2 V617F突变率。结论:本研究发现,V617F突变在溃疡性结肠炎患者中较为少见,在大多数有血栓症状的溃疡性结肠炎患者中,与JAK2 V617F突变无相关性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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