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CCR1 和 CCR3 基因的 rs13075270 和 rs13092160 多态性与 PFAPA 综合征的口腔阿弗他样病变有关。

The rs13075270 and rs13092160 polymorphisms of CCR1 and CCR3 genes on oral aphthous-like lesions in PFAPA syndrome.

机构信息

Department of Stomatology, Tangshan Gongren Hospital, Tangshan, China.

出版信息

Cell Mol Biol (Noisy-le-grand). 2022 Jan 2;67(4):328-333. doi: 10.14715/cmb/2021.67.4.37.

Abstract

Fever is a common symptom of infection in children. Periodic fever syndromes are less common but more complex. One of these Periodic fever syndromes is PFAPA (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis) syndrome which is known as the most benign syndromes. The cause of this disease is unknown. Various factors, including environmental and genetic factors, are involved in the development of this disease. In this study, the association of rs13075270 and rs13092160 polymorphisms were investigated in CCR1 and CCR3 genes with susceptibility to this syndrome in the Chinese population. In this regard, 38 patients with PFAPA syndrome and 100 healthy individuals were selected. After DNA sampling and extraction, polymorphisms of CCR1 and CCR3 receptor genes were examined by the PCR-RFLP method. Findings were analyzed using SPSS software version 22 with a significant level of P <0.05. The frequency of T/T genotype rs13092160 polymorphism in the patient and control groups was 78.95% and 83%, respectively, C/T genotype was 21.05% and 17% (P = 0.421). The frequency of the C/C genotype was 0 in both groups. Regarding rs13075270 polymorphism, the frequency of T/T genotype in patient and control groups was 15.79% and 81%, C/T genotype was 78.95% and 18% and C/C genotype was 5.26% and 1%, respectively (P<0.05). Thus, in rs13075270 polymorphism, the C/T genotype was associated with the risk of PFAPA syndrome (P<0.05), but rs13092160 polymorphism did not show a significant difference between individuals with PFAPA syndrome and controls.

摘要

发热是儿童感染的常见症状。周期性发热综合征则较为少见但更为复杂。其中一种周期性发热综合征是 PFAPA(周期性发热、口疮性口炎、咽炎、颈淋巴结炎)综合征,被认为是最良性的综合征。这种疾病的病因尚不清楚。包括环境和遗传因素在内的各种因素都参与了这种疾病的发展。在这项研究中,我们研究了 CCR1 和 CCR3 基因中的 rs13075270 和 rs13092160 多态性与中国人易感性的关系。为此,选择了 38 例 PFAPA 综合征患者和 100 名健康对照者。在 DNA 采样和提取后,采用 PCR-RFLP 法检测 CCR1 和 CCR3 受体基因的多态性。使用 SPSS 软件版本 22 对结果进行分析,显著水平为 P<0.05。患者组和对照组 rs13092160 多态性 T/T 基因型的频率分别为 78.95%和 83%,C/T 基因型为 21.05%和 17%(P=0.421)。两组均未发现 C/C 基因型。关于 rs13075270 多态性,患者组和对照组 T/T 基因型的频率分别为 15.79%和 81%,C/T 基因型为 78.95%和 18%,C/C 基因型为 5.26%和 1%(P<0.05)。因此,在 rs13075270 多态性中,C/T 基因型与 PFAPA 综合征的风险相关(P<0.05),但 rs13092160 多态性在 PFAPA 综合征患者和对照组之间没有显著差异。

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Differentiating PFAPA syndrome from monogenic periodic fevers.区分PFAPA综合征与单基因周期性发热。
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