Genome-wide association study of pulpal and apical diseases

Aino Salminen (), Kati Hyvärinen, Jarmo Ritari, Jussi M. Leppilahti, Ulla Palotie, Ville Vuollo, Oleg Kambur, Kadri Reis, Anu Reigo, Priit Palta, Markus Perola, Juha Sinisalo, Aki S. Havulinna, Päivi Mäntylä, Ulvi Kahraman Gürsoy, A. Liisa Suominen, David P. Rice, Vuokko Anttonen, Pekka Nieminen and Pirkko J. Pussinen
Additional contact information
Aino Salminen: University of Helsinki and Helsinki University Hospital
Kati Hyvärinen: Research and Development
Jarmo Ritari: Research and Development
Jussi M. Leppilahti: University of Oulu
Ulla Palotie: University of Helsinki and Helsinki University Hospital
Ville Vuollo: University of Oulu
Oleg Kambur: Finnish Institute for Health and Welfare
Kadri Reis: University of Tartu
Anu Reigo: University of Tartu
Priit Palta: University of Tartu
Markus Perola: Finnish Institute for Health and Welfare
Juha Sinisalo: Helsinki University Hospital and University of Helsinki
Aki S. Havulinna: Finnish Institute for Health and Welfare
Päivi Mäntylä: University of Eastern Finland
Ulvi Kahraman Gürsoy: University of Turku
A. Liisa Suominen: University of Eastern Finland
David P. Rice: University of Helsinki and Helsinki University Hospital
Vuokko Anttonen: University of Oulu
Pekka Nieminen: University of Helsinki and Helsinki University Hospital
Pirkko J. Pussinen: University of Helsinki and Helsinki University Hospital

Nature Communications, 2025, vol. 16, issue 1, 1-14

Abstract: Abstract Infections of the dental pulp are common sequelae of microbial activity and host susceptibility, affecting >80% of adult population. We performed a genome-wide association study on endodontic infections utilizing Finnish health registry and genotype data from FinnGen. Cases [132,124 (27.2%)] had at least one ICD10-diagnosis code of pulpal or apical diseases, whereas 353,106 individuals without diagnoses served as controls. We investigated two clinical sub-phenotypes, Pulpitis and Necrosis of pulp or apical periodontitis. Our analysis resulted in significant associations in 12 chromosomes and 15 independent loci, such as those near HORMAD2 gene and those in the HLA region. The imputed HLA alleles, especially DRB1 * 04:01 and DQB1 * 03:01, were associated with endodontic infections. Bioinformatic analysis of the top variants indicated several potential regulatory variants which are involved in MHC class II protein complex, humoral immune responses, and antigen processing. Our study widens understanding on how immune dysregulation resulting from immunogenetic variation is involved in the pathogenesis of endodontic infections.

Date: 2025
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DOI: 10.1038/s41467-025-61721-1

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