MEFV Gene Variant Alleles in Normal Population of Northwest of Iran, Which Is Near to Mediterranean Sea

Q3 Biochemistry, Genetics and Molecular Biology

Genetics Research International Pub Date : 2019-08-18 DOI:10.1155/2019/6418759

F. Salehzadeh, A. Sharghi, Atena Motayayagheni, S. Hosseini Asl, M. Mottaghi, Sepehr Sarkhanloo

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引用次数: 6

Abstract

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.

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伊朗西北部靠近地中海地区正常人群MEFV基因变异等位基因分析

背景与目的MEFV基因编码的pyrine蛋白在FMF作为一种自身炎症性疾病中起主要作用。FMF在地中海地区的人群中更为常见。考虑到MEFV基因在许多风湿病甚至非风湿病中的重要作用，有必要确定这些突变在该地区健康和正常人群中的不同变异。方法按Cochran公式对224名健康(未受影响或对照组)进行研究。根据生产商说明(维也纳实验室，维也纳，奥地利)对血样进行12种常见MEFV基因变异多态性筛查。他们填写了一份包含所需信息的问卷。根据临床标准，对所有健康对照患者及其一级亲属的FMF症状和体征进行初步评估。所有资料均采用简单统计学方法进行分析。结果224例健康对照中，男性113例(50.4%)，女性111例(49.6%)。57例(25%)患者存在MEFV变异等位基因，其中男性28例(49.1%)，女性29例(50.9%)。最常见的变异是E148Q(18.3%)，其次是P369S (3.1%)， V726A (2.2%)， A744S (1.3%)， F479L, M694V和R761H(0.8%)，最后是K695R(0.4%)。一些变体如M694I、M680I (G/C)、M680I (G/A)和I692del在这些样品中没有看到。正常人群中存在E148Q/P369S、E148Q/V726A、E148Q/P369S和P369S/F479L的复合杂合子变异，未见FMF阳性。结论伊朗西北部正常人群携带MEFV基因变异的比例为25%，其中以E148Q突变最为常见(18.3%)。正常人群中M694I、M680I (G/C)、M680I (G/A)、I692del突变的存在可以谨慎解释，而特定的复合杂合子突变可以认为是正常变异。

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来源期刊

Genetics Research International Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.90

自引率

0.00%

发文量

期刊介绍： Genetics Research International is a peer-reviewed, Open Access journal that publishes original research articles as well as review articles in all areas of genetics and genomics. The journal focuses on articles bearing on heredity, biochemistry, and molecular biology, as well as clinical findings.