Genome-wide association study of pulpal and apical diseases

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...

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Bibliographic Details
Published in:Nature communications Vol. 16; no. 1; pp. 6774 - 14
Main Authors: Salminen, Aino, Hyvärinen, Kati, Ritari, Jarmo, Leppilahti, Jussi M., Palotie, Ulla, Vuollo, Ville, Kambur, Oleg, Reis, Kadri, Reigo, Anu, Palta, Priit, Perola, Markus, Sinisalo, Juha, Havulinna, Aki S., Mäntylä, Päivi, Gürsoy, Ulvi Kahraman, Suominen, A. Liisa, Rice, David P., Anttonen, Vuokko, Nieminen, Pekka, Pussinen, Pirkko J.
Format: Journal Article
Language:English
Published: London Nature Publishing Group UK 23.07.2025
Nature Publishing Group
Nature Portfolio
Subjects:
45/43
692/308/2056
692/699/3017/3019
Adult
Alleles
Antigen processing
Biological activity
Case-Control Studies
Chromosomes
Codes
Complications
Dental pulp
Diagnosis
Drb1 protein
Endodontics
Female
Finland
Genes
Genetic diversity
Genetic Predisposition to Disease
Genetic variance
Genome-wide association studies
Genome-Wide Association Study
Genomes
Genotype
Genotype & phenotype
Genotypes
Gum disease
Histocompatibility antigen HLA
HLA-DQ beta-Chains - genetics
HLA-DRB1 Chains - genetics
Humanities and Social Sciences
Humans
Immune response (humoral)
Immunogenetics
Infections
Major histocompatibility complex
Male
Males
Microbial activity
Microorganisms
Middle Aged
multidisciplinary
Necrosis
Pathogenesis
Periapical Periodontitis - genetics
Periapical Periodontitis - immunology
Periodontitis
Phenotypes
Polymorphism, Single Nucleotide
Pulpitis - genetics
Pulpitis - immunology
Science
Science (multidisciplinary)
Young Adult
Finland
ISSN:2041-1723, 2041-1723
Online Access:Get full text
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Summary: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. Here the authors aim to further increase our understanding of host genetic variants predisposition to endodontic infections and perform a GWAS on FinnGen participants with diagnosis codes of pulpal and apical diseases derived from Finnish national health registers.
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ISSN:2041-1723
2041-1723
DOI:10.1038/s41467-025-61721-1