Cakan Nursen, Yılmaz Resul, Karaaslan Erhan, Ateş Ömer
Clinic of Pediatrics, Tokat State Hospital, Tokat, Turkey.
Division of Pediatric Critical Care, Department of Pediatrics, Selcuk University School of Medicine, Konya, Turkey.
J Pediatr Genet. 2020 Nov 25;11(2):91-98. doi: 10.1055/s-0040-1719053. eCollection 2022 Jun.
The aim of this study was to identify the genotypic analysis and allele frequencies of the -173 G/C polymorphism in the macrophage migration inhibitory factor ( ) gene in children diagnosed with familial Mediterranean fever (FMF). The study included 98 children who were diagnosed with FMF according to the Tel Hashomer criteria and one hundred and 57 healthy children as the control group. Genotyping was done for a polymorphism in a promoter region of the gene (G/C at position -173). The relationship of FMF prevalence and -173 G/C genotype of the gene was statistically significant. Individuals with the CC genotype seem to be predisposed to FMF. The C/C polymorphism at position -173 of the gene could be associated with excessive inflammation and immune response and can lead to susceptibility to FMF.
本研究的目的是确定诊断为家族性地中海热（FMF）的儿童巨噬细胞移动抑制因子（MIF）基因 -173 G/C多态性的基因型分析及等位基因频率。本研究纳入了98名根据泰尔哈绍梅尔标准诊断为FMF的儿童以及157名健康儿童作为对照组。对MIF基因启动子区域的一个多态性（-173位的G/C）进行基因分型。FMF患病率与MIF基因 -173 G/C基因型之间的关系具有统计学意义。CC基因型个体似乎易患FMF。MIF基因 -173位的C/C多态性可能与过度炎症和免疫反应相关，并可能导致对FMF易感。
