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首页> 外文期刊>Biochemical Genetics >Is the IL-6-174G/C Gene Polymorphism Related to the Disease Severity Score in Turkish Children with Familial Mediterranean Fever?
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Is the IL-6-174G/C Gene Polymorphism Related to the Disease Severity Score in Turkish Children with Familial Mediterranean Fever?

机译：IL-6-174G / C基因多态性与土耳其家族性地中海热儿童的疾病严重程度评分相关吗？

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Familial Mediterranean fever (FMF) is an autosomal recessively inherited disease characterized by recurrent self-limited attacks of fever accompanied by aseptic inflammation of serosal spaces, joints and skin, peritonitis, pleuritis, and arthritis. Clinical features differ according to genetics variants. The aim of this study was to identify relationship between IL-6 -174G/C gene polymorphisms and clinical features, disease severity score (DSS) and proteinuria in children diagnosed with FMF. In this study, 99 children who were followed-up in Gaziosmanpasa University Medical Faculty Department of Pediatrics and diagnosed with Familial Mediterranean fever according to Tel-Hashomer criteria were included. One hundred and fifty seven children who admitted to the hospital with any complain and found healthy included in control group. Genotyping was done for polymorphism in a promoter region of IL-6 gene (G/C at -174). The IL-6 -174G/C gene polymorphism and the clinical features of FMF, proteinuria, the DSS, and the healthy control group were investigated. Data for the clinical features were obtained retrospectively from the electronic records of patients. All of the genotyping of blood samples were done in Medical Genetic laboratory of Gaziosmanpasa University School of Medicine. The results revealed that the distribution of the genotypes and allele frequencies of the IL-6 -174G/C polymorphism were not significantly different between the FMF patients and the healthy controls. The IL-6 -174G/C polymorphisms did not affect proteinuria, the DSS, and the clinical features of FMF patients.
机译：家族性地中海热（FMF）是一种常染色体隐性遗传性疾病，其特征是反复出现的自发性发烧发作，并伴有浆膜间隙，关节和皮肤的无菌性炎症，腹膜炎，胸膜炎和关节炎。临床特征根据遗传变异而有所不同。这项研究的目的是确定IL-6 -174G / C基因多态性与诊断为FMF的儿童的临床特征，疾病严重程度评分（DSS）和蛋白尿之间的关系。在这项研究中，包括99名儿童，这些儿童在Gaziosmanpasa大学医学院儿科系进行了随访，并根据Tel-Hashomer标准被诊断出家族性地中海热。对照组中有157名儿童因抱怨而入院并发现健康。对IL-6基因的启动子区域（-174处的G / C）进行多态性的基因分型。研究了IL-6 -174G / C基因多态性以及FMF，蛋白尿，DSS和健康对照组的临床特征。回顾性地从患者的电子记录中获得临床特征数据。血液样本的所有基因分型均在加齐奥斯曼帕萨大学医学院的医学遗传实验室完成。结果表明，在FMF患者和健康对照组之间，IL-6 -174G / C多态性的基因型分布和等位基因频率无明显差异。 IL-6 -174G / C多态性不影响蛋白尿，DSS和FMF患者的临床特征。

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