Background and Objective. MEFV gene codes the pyrine protein that has major role in FMF as an autoinflammatory disorder. FMF is more often seen in the people of the Mediterranean area. Considering the significant role of MEFV gene in many rheumatologic diseases and even nonrheumatologic disorders, it is necessary to identify different variations of these mutations in the healthy and normal population of this area. Methods. 224 healthy (unaffected or control) people based on the Cochran formula entered this study. The blood samples were screened for the 12 common MEFV gene variants polymorphisms according to manufacturer’s instructions (FMF Strip Assay, Vienna lab, Vienna, Austria). They filled a questionnaire containing required information. All healthy control cases initially were evaluated for FMF symptoms and signs in themselves and their first-degree relatives based on clinical criteria. All data were analyzed by simple statistical method. Results. Among 224 healthy control cases, 113 (50.4%) were male and 111 (49.6%) female. There were MEFV variants alleles in 57 patients (25%): 28 were male (49.1%) and 29 female (50.9%). The most frequent variants were E148Q (18.3%), followed by P369S (3.1%), V726A (2.2%), A744S (1.3%), and F479L, M694V, and R761H (0.8%), and eventually K695R (0.4%), respectively. Some variants such as M694I, M680I (G/C), M680I (G/A), and I692del were not seen in these samples. There were compound heterozygote variations of E148Q/P369S, E148Q/V726A, E148Q/P369S, and P369S/F479L in normal population without any findings in favor of FMF. Conclusion. Twenty-five percent of the normal populations of the northwest of Iran are carrying MEFV gene variants, and the most common mutation is E148Q (18.3%). The presence of M694I, M680I (G/C), M680I (G/A), I692del mutations in the normal population can be interpreted cautiously, while particular compound heterozygote mutations can be considered as normal variants.
Background and Objective. CRMO is an inflammatory disease of bone that occurs more often in children. The clinical manifestations are intermittent fever, pain, and bone lesions, especially in long bones. Although there is an idiopathic type of disease, it is usually associated with some autoimmune disorders. This study evaluates MEFV gene mutations as background pathology of idiopathic CRMO. Methods. Blood samples of patients, who diagnosed as childhood idiopathic CRMO by imaging and pathologic study from June 2011 until September 2018, have been screened for the 12 common pathogenic variants of MEFV gene mutations. Result. Nine patients enrolled in this study, and eight of them were male. The most common involvement locations were tibia and femur, and the least ones were zygoma, calcaneus, and radius. The mean duration of the involvement was 1.3 years. Six patients had only 1 involved location, 2 patients showed two sites of involvement, and one patient had three affected areas. There were two positive MEFV gene mutations (22%), as E148Q/wt and K695R/wt both in the heterozygote form. There was no meaningful relationship between MEFV gene mutations and the age of onset, gender, and location of involvement. Patients with positive mutation had more involved sites and long duration of involvement significantly. Conclusion. There is no significant immunopathogenic relationship between the common MEFV gene variant alleles and CRMO disease.
Introduction: Gastric cancer is the 4th prevalent cancer around the world and it is responsible for the second reason of cancer-related mortality. Ardabil province is one of the most susceptible areas for gastric cancers in Iran. In this research the geographical distribution of gastric cancer and its effect on risk factors of gastric cancer such as smoking and distance between Sabalan volcano and patient's residence region have been studied in province of Ardabil.
Background & objectives: MEFV gene has a major role in Familial Mediterranean Fever (FMF) as an auto-inflammatory disorder. FMF is most often seen in the people of the Mediterranean area. Considering the significant role of the MEFV gene in many rheumatologic diseases and even non-rheumatologic disorders, it is necessary to identify different variations of these mutations in the healthy and normal population of this area. Methods: 224 healthy people entered into this study. The blood samples were screened for the 12 most common MEFV gene variants according to manufacturer's instructions. (FMF Strip Assay, Vienna lab, Vienna, Austria) They filled a questionnaire containing the required information. All patients were initially evaluated for the FMF symptoms and signs in themselves and their first-degree relatives based on clinical criteria. Chi-squared test and t-test were employed for statistical analysis using SPSS ver.24. Results: Among 224 cases, 113 cases (50.4%) were male, and 111 cases (49.6%) were female. MEFV mutations were detected in 57 patients (25%) of them, 28 cases were male (49.1%) and 29 cases were female (50.9%). The most frequent mutations were E148Q (18.3%, 41cases), followed by P369S (3.1%, 7 cases), V726A (2.2%, 5cases), A744S (1.3%, 3cases), F479L, M694V and R761H (0.8%, each 2 cases), and eventually K695R (0.4%) respectively. Some mutations such as M694I, M680I (G/C), M680I (G/A), I692del were not seen in these samples. There were compound heterozygous mutations of E148Q/P369S, E148Q/V726A, E148Q/P369S, and P369S / F479L in normal population without any findings in favor of FMF. Conclusion: Twenty-five percent of the normal population of the northwest of Iran carrying a heterozygous variant of the MEFV gene, E148Q (18.3%) as a most common mutation, which can be considered as a normal variant in the healthy population. The presence of M694I, M680I (G/C), M680I (G/A) and I692del mutations in the normal population can be interpreted with cautiously, while particular compound heterozygous mutations can be considered as normal variants.
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