Belmokhtar Karam Yahya, Errahhali Mounia Elidrissi, Lhousni Saida, Errahhali Manal Elidrissi, Bouagaga Rachida, Ouarzane Meryem, Charif Majida, Attar Nadia Al, Sidqi Zaina, Hamaz Siham, Bachir Houda, Serraj Khalid Andaloussi, Boulouiz Redouane, Alaoui Habiba, Bellaoui Mohammed
Genetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
Department of Internal Medicine, Mohammed VI University Hospital, Laboratory of Immunohematology and Cellular Therapy, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
Afr Health Sci. 2024 Sep;24(3):138-146. doi: 10.4314/ahs.v24i3.18.
The JAK2 V617F somatic mutation is a hallmark of myeloproliferative neoplasms (MPN) and is present in some patients with splanchnic venous thrombosis (SVT).
We investigated for the first time in Eastern Morocco the JAK2 mutational status and germline risk factors, such as the TERT and JAK2 polymorphisms, in MPN and SVT patients.
This study included 38 patients with MPN, 24 patients presenting with SVT and 60 healthy donors from the BRO Biobank. JAK2 mutations were analyzed using qPCR and Sanger sequencing. Predisposing polymorphisms to MPN were evaluated using Sanger sequencing.
JAK2 V617F mutation was positive in 64.5% of patients with MPN and 20.8% of patients with SVT. The JAK2 V617F allelic burden ranged from 2% to 97.53%. We found a strong association between the JAK2 rs56241661 polymorphism of the JAK2 46/1 haplotype and the development of MPN. However, no association was detected between the TERT rs2736100 polymorpism and MPN.
The JAK2 mutational status and its allelic burden in Eastern Morocco are consistent with previous studies. The JAK2 46/1 haplotype was strongly associated with MPN. However, unlike other previously studied populations, the TERT polymorphism rs2736100 has no effect on the occurrence of MPN in our population.
JAK2 V617F体细胞突变是骨髓增殖性肿瘤（MPN）的一个标志，并且存在于一些内脏静脉血栓形成（SVT）患者中。
我们首次在摩洛哥东部调查了MPN和SVT患者的JAK2突变状态以及种系危险因素，如TERT和JAK2多态性。
本研究纳入了来自BRO生物样本库的38例MPN患者、24例表现为SVT的患者以及60名健康供者。使用qPCR和桑格测序分析JAK2突变。使用桑格测序评估MPN的易感多态性。
JAK2 V617F突变在64.5%的MPN患者和20.8%的SVT患者中呈阳性。JAK2 V617F等位基因负担范围为2%至97.53%。我们发现JAK2 46/1单倍型的JAK2 rs56241661多态性与MPN的发生之间存在强关联。然而，未检测到TERT rs2736100多态性与MPN之间存在关联。
摩洛哥东部的JAK2突变状态及其等位基因负担与先前的研究一致。JAK2 46/1单倍型与MPN密切相关。然而，与其他先前研究的人群不同，TERT多态性rs2736100对我们人群中MPN的发生没有影响。
