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. 2024 Apr 18;19(1):169.
doi: 10.1186/s13023-024-03164-3.

Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients

Heidi Arponen  1   2   3 , Svetlana Vakkilainen  4 , Natalie Tomnikov  5   6 , Teemu Kallonen  5   6 , Steffi Silling  7 , Outi Mäkitie #  4   8   9   10 , Jaana Rautava #  11   5   12
Affiliations

Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients

Heidi Arponen et al. Orphanet J Rare Dis. .

Abstract

Background: Cartilage-hair hypoplasia (CHH) is a rare syndromic immunodeficiency with metaphyseal chondrodysplasia and increased risk of malignancy. In this cross-sectional observational study, we examined HPV status and oral microbiome in individuals with CHH. Oral brush samples were collected from 20 individuals with CHH (aged 5-59 years) and 41 controls (1-69 years). Alpha HPVs (43 types) were tested by nested PCR followed by bead-based probe hybridization. Separately, beta-, gamma-, mu- and nu- HPV types were investigated, and a genome-based bacterial microbiome sequencing was performed.

Results: We found a similar alpha HPV prevalence in individuals with CHH (45%) and controls (36%). The HPV types of individuals with CHH were HPV-16 (25%), 27, 28, and 78, and of controls HPV-3, 16 (21%), 27, and 61. Beta HPV positivity and combined beta/gamma/mu/nu prevalence was detected in 11% and 11% of individuals with CHH and in 5% and 3% of the controls, respectively. Individuals with CHH differed from the controls in bacterial microbiota diversity, richness, and in microbial composition. Individuals with CHH had lower abundance of species Mitsuokella sp000469545, Parascardovia denticolens, Propionibacterium acidifaciens, UMGS1907 sp004151455, Salinicola halophilus, Haemophilus_A paraphrohaemolyticus, Fusobacterium massiliense, and Veillonella parvula, and higher abundance of Slackia exigua.

Conclusions: Individuals with CHH exhibit similar prevalence of HPV DNA but different bacterial microbiota on their oral mucosa compared to healthy controls. This may partly explain the previously observed high prevalence of oral diseases in CHH, and regular oral examination is warranted.

Keywords: Cartilage-hair hypoplasia; Human papilloma virus; Inborn errors of immunity; Microbiome.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Flow chart of study subjects
Fig. 2
Fig. 2
Alpha and beta diversity indices of individuals with Cartilage-hair hypoplasia and healthy controls with (A) Chao 1 bias-corrected (p = 0.03), (B) Shannon entropy (p = 0.02) metrics at species-level, and (C) Bray-Curtis (p = 0.01) metrics at species-level
Fig. 3
Fig. 3
Differential abundance analysis at species level between individuals with Cartilage-hair hypoplasia and healthy controls. The data is corrected for active caries and periodontal disease. The figure contains 9 most abundant and statistically significant (FDR<0.05) species. The color of the bar indicates the median abundance of the species. Fold change indicates direction and difference of the change. *=p-value <0.05, **=p-value <0.01, ***=p-value <0.001
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References

    1. Vakkilainen S, Taskinen M, Mäkitie O. Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management. Scand J Immunol. 2020;92(4):e12913. doi: 10.1111/sji.12913. - DOI - PubMed
    1. Ridanpää M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, et al. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell. 2001;104(2):195–203. doi: 10.1016/S0092-8674(01)00205-7. - DOI - PubMed
    1. Mckusick VA. Metaphyseal dysostosis and thin hair: a new recessively inherited syndrome? Lancet Lond Engl. 1964;1(7337):832–3. doi: 10.1016/S0140-6736(64)93029-6. - DOI - PubMed
    1. Mäkitie O. Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. J Med Genet. 1992;29(9):652–5. doi: 10.1136/jmg.29.9.652. - DOI - PMC - PubMed
    1. Vakkilainen S, Mäkitie R, Klemetti P, Valta H, Taskinen M, Husebye ES, et al. A wide spectrum of autoimmune manifestations and other symptoms suggesting Immune Dysregulation in patients with Cartilage-Hair Hypoplasia. Front Immunol. 2018;9:2468. doi: 10.3389/fimmu.2018.02468. - DOI - PMC - PubMed

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