107: Genome-wide Association Study Reveals Genetic Links to Pulpal and Apical Diseases

Episode 107: Genome-wide Association Study Reveals Genetic Links to Pulpal and Apical Diseases In this episode of PaperCast Base by Base, we explore a large-scale genome-wide association study investigating the genetic underpinnings of pulpal and apical diseases. Using Finnish health registry data from over 485,000 individuals in the FinnGen cohort, researchers identified genetic loci linked to susceptibility to endodontic infections, independent of caries status. Study Highlights:The study analyzed three phenotypes—Pulpal and apical diseases, Pulpitis, and Necrosis of pulp or apical periodontitis—identifying 15 independent loci with genome-wide significance. Strong associations were found near the HORMAD2 gene on chromosome 22 and within the HLA class II region, particularly alleles DRB1*04:01 and DQB1*03:01. Functional analyses revealed that many of these loci regulate genes expressed in dental pulp tissue and are involved in immune pathways, especially antigen presentation via MHC class II. Replication in multiple cohorts confirmed associations for two HORMAD2-linked SNPs, and genetic correlations were observed between endodontic infections and pain, autoimmune, and cardiometabolic traits. Conclusion:These findings highlight immune dysregulation as a key mechanism in the pathogenesis of endodontic infections, opening new avenues for prevention, risk assessment, and targeted therapies. Reference:Salminen A, Hyvärinen K, Ritari J, Leppilahti JM, Palotie U, Vuollo V, et al. Genome-wide association study of pulpal and apical diseases. Nature Communications. 2025;16:6774. https://doi.org/10.1038/s41467-025-61721-1 License:This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/ Support: If you'd like to support Base by Base, you can make a one-time or monthly donation here: https://basebybase.castos.com/ On PaperCast Base by Base you’ll discover the latest in genomics, functional genomics, structural genomics, and proteomics. Keywords: GWAS, pulpitis, apical periodontitis, HLA, immune dysregulation Chapters (00:00:00) - How genetic science is reshaping how we treat dental problems(00:02:18) - Dental genetics and risk of loss of teeth(00:06:56) - Genetics of endodontics(00:09:22) - Dental infections, genetic heritability(00:13:52) - Genetic insights into endodontic infections(00:18:30) - Biology Base by Base

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