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

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. K E Y W O R D S chronic paracoccidioidomycosis, DC-SIGN, single nucleotide polymorphism, VDR | 187 ALVES PEREIRA NETO ET AL.

Vitamin D receptor genetic polymorphisms are associated with oral lichen planus susceptibility in a Chinese Han population

“…The heterogeneity test suggested that our final results were robust and unaffected by other factors. Additionally, due to the strong LD between VDR rs7975232 and rs2239185, haplotype analysis was further conducted with the results suggested that SNP-SNP interactions in the VDR gene increased susceptibility to OLP, which further validated the single-gene analysis results [23,24,25].…”

Vitamin D receptor genetic polymorphisms are associated with oral lichen planus susceptibility in a Chinese Han population

“…The heterogeneity test suggested that our final results were robust and unaffected by other factors. Additionally, due to the strong LD between VDR rs7975232 and rs2239185, haplotype analysis was further conducted with the results suggested that SNP-SNP interactions in the VDR gene increased susceptibility to OLP, which further validated the single-gene analysis results [21][22][23].…”

Vitamin D receptor genetic polymorphisms are associated with oral lichen planus susceptibility in a Chinese Han population

“…Our study found the association between the genetic variation of VDR and OLP susceptibility .The results revealed that mutations in VDR rs2239185 and rs7975232 increased the risk of OLP, and OLP risk increased with increasing adverse alleles. The heterogeneity test suggested our results were not heterogeneous in different populations, which confirmed that our final results were robust and unaffected by other factors.Additionally, due to the strong LD between VDR rs7975232 and rs2239185, further haplotype analysis was conducted with the results suggested that SNP-SNP interactions in the VDR gene increased susceptibility to OLP, which further validated the single-gene analysis results[23, 24,25].. .…”