Yüce Melek, Bagci Hasan, Cengiz Kuddusi
Department of Medical Services and Techniques, Ondokuz Mayıs University, 55139 Samsun, Turkey.
Department of Medical Biology, Faculty of Medicine, Ondokuz Mayıs University, 55139 Samsun, Turkey.
J Res Med Sci. 2018 Sep 24;23:78. doi: 10.4103/jrms.JRMS_1001_16. eCollection 2018.
Familial Mediterranean fever (FMF) is generally defined as an autosomal recessive disease, characterized by the automatic activation of the innate immune system in the absence of a detectable pathogenic stimulant. We hypothesize that the pathogenic factors, besides the genetic causes, may affect the development of FMF symptoms. To test this hypothesis, we examined the effects of human foamy virus (HFV) positivity on the occurrence of the clinical symptoms of FMF.
Two hundred and twenty-two FMF patients with definitive diagnosis according to Tel Hashomer criteria (study group 1 [SG1]), 205 symptomatic FMF patients who had definitive diagnosis according to the same criteria but did not carry any of the 12 most commonly occurring gene mutations (study group 2 [SG2]), and 200 healthy individuals were included as control group (study group 3 [SG3]) in the study. The genetic analysis was applied in the Molecular Genetics Laboratory of the Department of Medical Biology, Faculty of Medicine, Ondokuz Mayıs University. This study was designed as a case-control study. HFV positivity was tested by amplifying the HFV bel1 gene sequence with polymerase chain reaction technique. Statistical analyses were conducted using SPSS version 23.0 software.
HFV positivity showed significant differences between the study groups ( = 0.002). While 43 (19.02%) of the 222 SG1 patients were positive for the HFV bel1 gene sequence, 33 (16.09%) of the 205 SG2 patients were positive for the same sequence. Only 15 (7.5%) of the SG3 participants were positive for the presence of HFV bel1 gene sequence.
The results of our study suggested that HFV positivity can be a stimulant pathogenic factor of natural immune system which can cause the emergence of FMF symptoms.
家族性地中海热(FMF)通常被定义为一种常染色体隐性疾病,其特征是在没有可检测到的致病刺激物的情况下先天免疫系统自动激活。我们假设,除了遗传原因外,致病因素可能会影响FMF症状的发展。为了验证这一假设,我们研究了人类泡沫病毒(HFV)阳性对FMF临床症状发生的影响。
根据泰尔哈绍梅尔标准确诊的222例FMF患者(研究组1 [SG1])、205例根据相同标准确诊但未携带12种最常见基因突变中的任何一种的有症状FMF患者(研究组2 [SG2])以及200名健康个体作为对照组(研究组3 [SG3])纳入本研究。基因分析在翁多库兹迈伊斯大学医学院医学生物学系分子遗传学实验室进行。本研究设计为病例对照研究。采用聚合酶链反应技术扩增HFV bel1基因序列来检测HFV阳性。使用SPSS 23.0软件进行统计分析。
研究组之间HFV阳性存在显著差异(P = 0.002)。222例SG1患者中有43例(19.02%)HFV bel1基因序列呈阳性,205例SG2患者中有33例(16.09%)该序列呈阳性。SG3参与者中只有15例(7.5%)HFV bel1基因序列呈阳性。
我们的研究结果表明,HFV阳性可能是导致FMF症状出现的天然免疫系统的一种刺激性致病因素。