Genetic risk factors for periodontitis: a genome-wide association study using UK Biobank data

Chenyi Gao; Mark M Iles; David Timothy Bishop; Harriet Larvin; David Bunce; Bei Wu; Huabin Luo; Luigi Nibali; Susan Pavitt; Jianhua Wu; Jing Kang

doi:10.1007/s00784-025-06205-8

Genetic risk factors for periodontitis: a genome-wide association study using UK Biobank data

Chenyi Gao, Mark M Iles, David Timothy Bishop, Harriet Larvin, David Bunce, Bei Wu, Huabin Luo, Luigi Nibali, Susan Pavitt, Jianhua Wu, Jing Kang

Centre for Oral, Clinical & Translational Sciences

Research output: Contribution to journal › Article › peer-review

Abstract

OBJECTIVES: Periodontitis is linked with many health conditions, but its genetic basis is not yet understood. This genome-wide association study (GWAS) aimed to investigate the genetic variants associated with periodontitis.

MATERIALS AND METHODS: This study utilised UK Biobank participants of European descent. Individuals were categorised as "having periodontitis" if they self-reported having 'painful gums', 'bleeding gums' or 'loose teeth' (n = 68,482), or as "controls" for those without these symptoms (n = 307,342). We conducted GWAS of this binary periodontitis phenotype using logistic regression models with PLINK2.0 adjusting for age, sex and the first 15 principal components to account for population stratification.

RESULTS: There were 376,611 participants (mean baseline age = 57 ± 7.9 SD) included in the GWAS, and four significant loci were identified: rs775476621 on chromosome 11 (Odds Ratio, OR[T]: 3.08, p = 1.01 × 10 - 8), rs751014048 on chromosome 11 (OR[G]: 3.07, p = 1.04 × 10 - 8), rs149922301 on chromosome 4 near gene RP11-61G19.1 (OR[A]: 1.18, p = 2.71 × 10 - 8) and rs368467810 on chromosome 6 near gene HIST1H3L (OR[TTTA]: 0.96, p = 3.88 × 10 - 8).

CONCLUSIONS: Within the current limitations, such as self-reported phenotype and older age of the study population, four loci were detected for periodontitis that have not previously been linked with this condition. Further exploration of the function of these loci may contribute to improved understanding of periodontitis aetiology and subsequent drug development.

CLINICAL RELEVANCE: These findings offer new targets for future research to investigate the genetic impact on periodontitis and aid the future understanding of periodontitis pathology and the disease's progression.

Original language	English
Article number	129
Pages (from-to)	129
Journal	CLINICAL ORAL INVESTIGATIONS
Volume	29
Issue number	2
DOIs	https://doi.org/10.1007/s00784-025-06205-8
Publication status	Published - 14 Feb 2025

Keywords

Humans
Genome-Wide Association Study
Female
Male
Middle Aged
Periodontitis/genetics
United Kingdom
Biological Specimen Banks
Risk Factors
Genetic Predisposition to Disease
Phenotype
Polymorphism, Single Nucleotide
UK Biobank

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@article{78dbde148a5c4032b138cc5aed7dce41,

title = "Genetic risk factors for periodontitis: a genome-wide association study using UK Biobank data",

abstract = "OBJECTIVES: Periodontitis is linked with many health conditions, but its genetic basis is not yet understood. This genome-wide association study (GWAS) aimed to investigate the genetic variants associated with periodontitis.MATERIALS AND METHODS: This study utilised UK Biobank participants of European descent. Individuals were categorised as {"}having periodontitis{"} if they self-reported having 'painful gums', 'bleeding gums' or 'loose teeth' (n = 68,482), or as {"}controls{"} for those without these symptoms (n = 307,342). We conducted GWAS of this binary periodontitis phenotype using logistic regression models with PLINK2.0 adjusting for age, sex and the first 15 principal components to account for population stratification.RESULTS: There were 376,611 participants (mean baseline age = 57 ± 7.9 SD) included in the GWAS, and four significant loci were identified: rs775476621 on chromosome 11 (Odds Ratio, OR[T]: 3.08, p = 1.01 × 10 - 8), rs751014048 on chromosome 11 (OR[G]: 3.07, p = 1.04 × 10 - 8), rs149922301 on chromosome 4 near gene RP11-61G19.1 (OR[A]: 1.18, p = 2.71 × 10 - 8) and rs368467810 on chromosome 6 near gene HIST1H3L (OR[TTTA]: 0.96, p = 3.88 × 10 - 8). CONCLUSIONS: Within the current limitations, such as self-reported phenotype and older age of the study population, four loci were detected for periodontitis that have not previously been linked with this condition. Further exploration of the function of these loci may contribute to improved understanding of periodontitis aetiology and subsequent drug development.CLINICAL RELEVANCE: These findings offer new targets for future research to investigate the genetic impact on periodontitis and aid the future understanding of periodontitis pathology and the disease's progression.",

keywords = "Humans, Genome-Wide Association Study, Female, Male, Middle Aged, Periodontitis/genetics, United Kingdom, Biological Specimen Banks, Risk Factors, Genetic Predisposition to Disease, Phenotype, Polymorphism, Single Nucleotide, UK Biobank",

author = "Chenyi Gao and Iles, {Mark M} and Bishop, {David Timothy} and Harriet Larvin and David Bunce and Bei Wu and Huabin Luo and Luigi Nibali and Susan Pavitt and Jianhua Wu and Jing Kang",

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doi = "10.1007/s00784-025-06205-8",

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T1 - Genetic risk factors for periodontitis

T2 - a genome-wide association study using UK Biobank data

AU - Gao, Chenyi

AU - Iles, Mark M

AU - Bishop, David Timothy

AU - Larvin, Harriet

AU - Bunce, David

AU - Wu, Bei

AU - Luo, Huabin

AU - Nibali, Luigi

AU - Pavitt, Susan

AU - Wu, Jianhua

AU - Kang, Jing

N1 - Publisher Copyright: © The Author(s) 2025.

PY - 2025/2/14

Y1 - 2025/2/14

N2 - OBJECTIVES: Periodontitis is linked with many health conditions, but its genetic basis is not yet understood. This genome-wide association study (GWAS) aimed to investigate the genetic variants associated with periodontitis.MATERIALS AND METHODS: This study utilised UK Biobank participants of European descent. Individuals were categorised as "having periodontitis" if they self-reported having 'painful gums', 'bleeding gums' or 'loose teeth' (n = 68,482), or as "controls" for those without these symptoms (n = 307,342). We conducted GWAS of this binary periodontitis phenotype using logistic regression models with PLINK2.0 adjusting for age, sex and the first 15 principal components to account for population stratification.RESULTS: There were 376,611 participants (mean baseline age = 57 ± 7.9 SD) included in the GWAS, and four significant loci were identified: rs775476621 on chromosome 11 (Odds Ratio, OR[T]: 3.08, p = 1.01 × 10 - 8), rs751014048 on chromosome 11 (OR[G]: 3.07, p = 1.04 × 10 - 8), rs149922301 on chromosome 4 near gene RP11-61G19.1 (OR[A]: 1.18, p = 2.71 × 10 - 8) and rs368467810 on chromosome 6 near gene HIST1H3L (OR[TTTA]: 0.96, p = 3.88 × 10 - 8). CONCLUSIONS: Within the current limitations, such as self-reported phenotype and older age of the study population, four loci were detected for periodontitis that have not previously been linked with this condition. Further exploration of the function of these loci may contribute to improved understanding of periodontitis aetiology and subsequent drug development.CLINICAL RELEVANCE: These findings offer new targets for future research to investigate the genetic impact on periodontitis and aid the future understanding of periodontitis pathology and the disease's progression.

AB - OBJECTIVES: Periodontitis is linked with many health conditions, but its genetic basis is not yet understood. This genome-wide association study (GWAS) aimed to investigate the genetic variants associated with periodontitis.MATERIALS AND METHODS: This study utilised UK Biobank participants of European descent. Individuals were categorised as "having periodontitis" if they self-reported having 'painful gums', 'bleeding gums' or 'loose teeth' (n = 68,482), or as "controls" for those without these symptoms (n = 307,342). We conducted GWAS of this binary periodontitis phenotype using logistic regression models with PLINK2.0 adjusting for age, sex and the first 15 principal components to account for population stratification.RESULTS: There were 376,611 participants (mean baseline age = 57 ± 7.9 SD) included in the GWAS, and four significant loci were identified: rs775476621 on chromosome 11 (Odds Ratio, OR[T]: 3.08, p = 1.01 × 10 - 8), rs751014048 on chromosome 11 (OR[G]: 3.07, p = 1.04 × 10 - 8), rs149922301 on chromosome 4 near gene RP11-61G19.1 (OR[A]: 1.18, p = 2.71 × 10 - 8) and rs368467810 on chromosome 6 near gene HIST1H3L (OR[TTTA]: 0.96, p = 3.88 × 10 - 8). CONCLUSIONS: Within the current limitations, such as self-reported phenotype and older age of the study population, four loci were detected for periodontitis that have not previously been linked with this condition. Further exploration of the function of these loci may contribute to improved understanding of periodontitis aetiology and subsequent drug development.CLINICAL RELEVANCE: These findings offer new targets for future research to investigate the genetic impact on periodontitis and aid the future understanding of periodontitis pathology and the disease's progression.

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KW - Genome-Wide Association Study

KW - Female

KW - Male

KW - Middle Aged

KW - Periodontitis/genetics

KW - United Kingdom

KW - Biological Specimen Banks

KW - Risk Factors

KW - Genetic Predisposition to Disease

KW - Phenotype

KW - Polymorphism, Single Nucleotide

KW - UK Biobank

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ER -

Genetic risk factors for periodontitis: a genome-wide association study using UK Biobank data

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