Kiraz Aslıhan, Sezer Ozlem, Alemdar Adem, Canbek Sezin, Duman Nilgun, Bisgin Atıl, Cora Tulin, Ruhi Hatice Ilgın, Ergoren Mahmut Cerkez, Geçkinli Bilgen Bilge, Sag Sebnem Ozemri, Gözden Hilmi Erdem, Oz Ozlem, Altıntaş Zuhal Mert, Yalcıntepe Sinem, Keskin Adem, Tak Ayşegül Yabacı, Paskal Şeyma Aktaş, Yürekli Uğur Fahri, Demirtas Mercan, Evren Emine Unal, Hanta Abdullah, Başdemirci Müşerref, Suer Kaya, Balta Burhan, Kocak Nadir, Karabulut Halil Gürhan, Cobanogulları Havva, Ateş Esra Arslan, Bozdoğan Sevcan Tuğ, Eker Damla, Ekinci Sadiye, Nergiz Süleyman, Tuncalı Timur, Yagbasan Serap, Alavanda Ceren, Kutlay Nuket Yurur, Evren Hakan, Erdoğan Murat, Altıner Sule, Sanlidag Tamer, Gonen Gizem Akıncı, Vicdan Arzu, Eras Nazan, Eker Hatice Koçak, Balasar Ozgür, Tuncel Gulten, Dundar Munis, Gurkan Hakan, Temel Sehime Gulsun
Kayseri City Training and Research Hospital, Genetic Diseases Evaluation Center, Kayseri, Turkey.
Samsun Training and Research Hospital, Genetic Diseases Evaluation Center, Samsun, Turkey.
J Med Virol. 2023 Feb;95(2):e28457. doi: 10.1002/jmv.28457.
Thrombotic and microangiopathic effects have been reported in COVID-19 patients. This study examined the contribution of the hereditary thrombophilia factors Prothrombin (FII) and Factor V Leiden (FVL) genotypes to the severity of COVID-19 disease and the development of thrombosis. This study investigated FII and FVL alleles in a cohort of 9508 patients (2606 male and 6902 female) with thrombophilia. It was observed that 930 of these patients had been infected by SARS-CoV-2 causing COVID-19. The demographic characteristics of the patients and their COVID-19 medical history were recorded. Detailed clinical manifestations were analyzed in a group of cases (n = 4092). This subgroup was age and gender-matched. FII and FVL frequency data of healthy populations without thrombophilia risk were obtained from Bursa Uludag University Medical Genetic Department's Exome Databank. The ratio of males (31.08%; 27.01%) and the mean age (36.85 ± 15.20; 33.89 ± 14.14) were higher among COVID-19 patients compared to non-COVID-19 patients. The prevalence of FVL and computerized tomography (CT) positivity in COVID-19 patients was statistically significant in the thrombotic subgroup (p < 0.05). FVL prevalence, CT positivity rate, history of thrombosis, and pulmonary thromboembolism complication were found to be higher in deceased COVID-19 patients (p < 0.05). Disease severity was mainly affected by FVL and not related to genotypes at the Prothrombin mutations. Overall, disease severity and development of thrombosis in COVID-19 are mainly affected by the variation within the FVL gene. Possible FVL mutation should be investigated in COVID-19 patients and appropriate treatment should be started earlier in FVL-positive patients.
在新冠肺炎患者中已报告有血栓形成和微血管病变效应。本研究探讨遗传性血栓形成倾向因素凝血酶原（FII）和因子V莱顿（FVL）基因型对新冠肺炎疾病严重程度及血栓形成的影响。本研究在9508例血栓形成倾向患者（2606例男性和6902例女性）队列中调查了FII和FVL等位基因。观察到其中930例患者感染了导致新冠肺炎的SARS-CoV-2。记录了患者的人口统计学特征及其新冠肺炎病史。对一组病例（n = 4092）的详细临床表现进行了分析。该亚组在年龄和性别上相匹配。从布尔萨乌鲁达大学医学遗传科的外显子数据库中获取无血栓形成倾向风险的健康人群的FII和FVL频率数据。与非新冠肺炎患者相比，新冠肺炎患者中的男性比例（31.08%；27.01%）和平均年龄（36.85±15.20；33.89±14.14）更高。在血栓形成亚组中，新冠肺炎患者中FVL的患病率和计算机断层扫描（CT）阳性率具有统计学意义（p < 0.05）。在死亡的新冠肺炎患者中，FVL患病率、CT阳性率、血栓形成史和肺血栓栓塞并发症更高（p < 0.05）。疾病严重程度主要受FVL影响，与凝血酶原突变的基因型无关。总体而言，新冠肺炎的疾病严重程度和血栓形成主要受FVL基因内变异的影响。应在新冠肺炎患者中调查可能的FVL突变，对于FVL阳性患者应更早开始适当治疗。
