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DC-SIGN 和 VDR 多态性与具有口腔表现的慢性副球孢子菌病有关。

DC-SIGN and VDR polymorphisms are associated with chronic form of paracoccidioidomycosis with oral manifestations.

机构信息

Departamento de Microbiologia e Imunologia, Universidade Federal de Alfenas, Alfenas, MG, Brazil.

Departamento de Patologia e Parasitologia, Universidade Federal de Alfenas, Alfenas, MG, Brazil.

出版信息

Mycoses. 2019 Feb;62(2):186-192. doi: 10.1111/myc.12866. Epub 2018 Nov 19.

Abstract

Paracoccidioidomycosis (PCM) is a granulomatous disease caused by fungi of the species complex of the Paracoccidioides genus. One of the main clinical manifestations of PCM is the presence of oral lesions with the presence of epithelioid granulomas. In this work, we aimed to evaluate the frequency of SNPs in the TNF-α, JAK1, VDR, DC-SIGN and FcγRIIa genes in patients with chronic PCM and verify possible association of these SNPs with the organisation pattern of the granulomas in the oral lesions. A total of 66 samples of DNA were obtained from oral lesions biopsies and 106 DNA samples were obtained from healthy individuals. The individuals were genotyped for SNPs in DC-SIGN (rs4804803), FcγRIIa (rs1801274), JAK1 (rs11208534), TNF-α (rs1800629) and VDR (rs7975232) by real-time PCR and allele discrimination method. Granulomas were classified as loose or dense according to the histological pattern. In the VDR (rs7975232), the CC genotype (P < 0.001, OR = 5.94, 95% CI = 2.07-17.05), and the C allele (P = 0.027, OR = 2.71, 95% CI = 1.07-6.86), as well as the GG genotype in DC-SIGN (rs4804803) (P = 0.032, OR: 3.76, 95%, I = 1.06-13.38) are associated with an increased risk of oral PCM. Our data indicate that VDR and DC-SIGN genetics variations are related to the susceptibility of oral PCM in the group of patients analysed.

摘要

球孢子菌病(PCM)是一种由球孢子菌属种复合体真菌引起的肉芽肿性疾病。PCM 的主要临床表现之一是存在口腔病变,伴有上皮样肉芽肿。在这项工作中,我们旨在评估 TNF-α、JAK1、VDR、DC-SIGN 和 FcγRIIa 基因中的 SNP 在慢性 PCM 患者中的频率,并验证这些 SNP 与口腔病变中肉芽肿的组织模式之间的可能关联。从口腔病变活检中获得了 66 份 DNA 样本,从 106 名健康个体中获得了 106 份 DNA 样本。通过实时 PCR 和等位基因区分方法对 DC-SIGN(rs4804803)、FcγRIIa(rs1801274)、JAK1(rs11208534)、TNF-α(rs1800629)和 VDR(rs7975232)的 SNP 进行基因分型。根据组织学模式将肉芽肿分类为疏松或致密。在 VDR(rs7975232)中,CC 基因型(P<0.001,OR=5.94,95%CI=2.07-17.05)和 C 等位基因(P=0.027,OR=2.71,95%CI=1.07-6.86),以及 DC-SIGN(rs4804803)中的 GG 基因型(P=0.032,OR:3.76,95%CI=1.06-13.38)与口腔 PCM 的发病风险增加相关。我们的数据表明,VDR 和 DC-SIGN 遗传变异与所分析患者组中口腔 PCM 的易感性有关。

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