Abstract
ABSTRACT Background: Autoimmune polyendocrine syndrome type-1 (APS-1) is a rare, childhood onset disease caused by mutations in the Autoimmune Regulator gene. The phenotypic expression is highly variable and includes disease manifestations in the oral cavity, including mucocutaneous candidiasis. Increasing evidence suggests a potential role of the skin, oral and gut microbiotas in the pathogenesis of autoimmunity. To date, no information exists regarding the oral microbiota in APS-1. Objective: To assess the bacterial microbiota of whole saliva in APS-1 patients by using high throughput sequencing. Design: Whole unstimulated saliva was collected from 10 APS-1 patients and 17 healthy controls and examined by high throughput sequencing of the hypervariable region V1-V2 of 16S rRNA using the 454 GS Junior system. Metastats (http://cbcb.umd.edu/software/metastats) was used to analyse the pyrosequencing reads. Results: A reduction in the total number of bacterial genera and species was detected in APS-1 compared to healthy controls. The proportion of the major phyla Firmicutes was higher (60% vs 41%, p = 0.002) and Bacteroidetes lower (15% vs 28%, p = 0.007) in APS-1 compared to healthy controls. On the genus level, Streptococcus and Gemella were prevalent in APS-1. Conclusion: Our findings indicate a significantly altered oral microbiota in APS-1.
Highlights
Autoimmune polyendocrine syndrome type-1 (APS-1) is a rare, childhood onset disease caused by mutations in the Autoimmune Regulator gene
0.001 0.031 0.046 0.047 0.023 0.0003* 0.0002* 0.001 0.023 0.048 0.0004* 0.001 0.006 0.010 0.045 0.023 0.028 0.001 0.006 0.001 0.026 0.008 0.016 0.002 0.018 0.026 0.039 0.019 0.001 0.029 0.044 0.018 0.018 0.035 0.008 0.019 0.015 0.002 0.029 0.018 0.029 0.031 0.048 higher in healthy subjects based on the observed species rarefaction curves Figure 5(b,c) gives the estimated species richness evaluated on the Chao1 matrix and the rarefaction curves based on the Shannon index, respectively showing an overall difference in alpha diversity, the latter shows no difference between health and APS-1
A PCoA 3D plot of all samples with the distances calculated using weighed normalized UniFrac matrix, and clearly indicates that the two groups have distinct beta diversity. These results show a richer diversity in controls compared to APS-1
Summary
Autoimmune polyendocrine syndrome type-1 (APS-1) is a rare, childhood onset disease caused by mutations in the Autoimmune Regulator gene. No information exists regarding the oral microbiota in APS-1. Objective: To assess the bacterial microbiota of whole saliva in APS-1 patients by using high throughput sequencing. Design: Whole unstimulated saliva was collected from 10 APS-1 patients and 17 healthy controls and examined by high throughput sequencing of the hypervariable region V1-V2 of 16S rRNA using the 454 GS Junior system. Results: A reduction in the total number of bacterial genera and species was detected in APS1 compared to healthy controls. The proportion of the major phyla Firmicutes was higher (60% vs 41%, p = 0.002) and Bacteroidetes lower (15% vs 28%, p = 0.007) in APS-1 compared to healthy controls. Conclusion: Our findings indicate a significantly altered oral microbiota in APS-1
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