Radwan Noha A, Gohary Heba El, Hamed Dalia, Khalil Noha M, Abdelfatah Dalia, Wahab Amal Abdel, Elsharkawy Marwa Mahmoud
Departement of Clinical and Chemical Pathology, Kasr Alainy Medical School, Cairo University, Egypt.
Departement of Clinical and Chemical Pathology, Kasr Alainy Medical School, Cairo University, Egypt.
J Genet Eng Biotechnol. 2025 Mar;23(1):100473. doi: 10.1016/j.jgeb.2025.100473. Epub 2025 Mar 4.
The emergence of worldwide pandemic caused by coronavirus 2 (SARS-CoV-2) has caused a radical change in everyday life. Patients diseased with FMF show manifestations and labs highly similar to COVID infected patients. In the current study, we evaluate the presence of variants in exon 10 of MEFV gene and the relation with severity of symptoms in patients with COVID-19 pneumonia.
Thirty-nine COVID-19 infected patients admitted to Kasr Alainy medical school were divided into two groups moderate and severe. Sanger sequencing of exon 10 in MEVF gene was scanned in the 39 subjects.
We identified variants in 10 out of 39 patients (26 %) with heterozygous variants in 9 patients (23 %) and homozygous in one patient (2.5 %). The most frequent variant found was the silent variant p.(P706 = ) (12.9 %) followed by missense variants p.(A744S) (7.7 %) and p.(V726A) (5.1 %). Striking result was that 90 % of patients with MEFV variants had moderate symptoms and without progression into the severe form of COVID-19 pneumonia.
Our results indicated that the presence of variants in MEFV gene (either benign or of uncertain significance) could have a role in determination of COVID-19 severity.
由新型冠状病毒2（SARS-CoV-2）引起的全球大流行给日常生活带来了根本性变化。家族性地中海热（FMF）患者的表现和实验室检查结果与新冠病毒感染患者高度相似。在本研究中，我们评估了MEFV基因第10外显子变异的存在情况及其与新冠肺炎患者症状严重程度的关系。
将开罗大学医学院收治的39例新冠肺炎感染患者分为中度和重度两组。对这39名受试者的MEFV基因第10外显子进行桑格测序。
我们在39例患者中的10例（26%）检测到变异，其中9例（23%）为杂合变异，1例（2.5%）为纯合变异。最常见的变异是沉默变异p.(P706=)（12.9%），其次是错义变异p.(A744S)（7.7%）和p.(V726A)（5.1%）。显著的结果是，90%的MEFV变异患者症状为中度，且未进展为新冠肺炎的重症形式。
我们的结果表明，MEFV基因变异（无论是良性还是意义不明）的存在可能在新冠肺炎严重程度的判定中起作用。
