PLoS ONE (Jan 2024)

Genome-wide association studies on periodontitis: A systematic review.

  • Chenyi Gao,
  • Mark Iles,
  • Harriet Larvin,
  • David Timothy Bishop,
  • David Bunce,
  • Mark Ide,
  • Fanyiwen Sun,
  • Susan Pavitt,
  • Jianhua Wu,
  • Jing Kang

DOI
https://doi.org/10.1371/journal.pone.0306983
Journal volume & issue
Vol. 19, no. 9
p. e0306983

Abstract

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ObjectivesThis study aims to systematically review the existing literature and critically appraise the evidence of genome-wide association studies (GWAS) on periodontitis. This study also aims to synthesise the findings of genetic risk variants of periodontitis from included GWAS.MethodsA systematic search was conducted on PubMed, GWAS Catalog, MEDLINE, GLOBAL HEALTH and EMBASE via Ovid for GWAS on periodontitis. Only studies exploring single-nucleotide polymorphisms(SNPs) associated with periodontitis were eligible for inclusion. The quality of the GWAS was assessed using the Q-genie tool. Information such as study population, ethnicity, genomic data source, phenotypic characteristics(definition of periodontitis), and GWAS methods(quality control, analysis stages) were extracted. SNPs that reached conventional or suggestive GWAS significance level(5e-8 or 5e-06) were extracted and synthesized.ResultsA total of 15 good-quality GWAS on periodontitis were included (Q-genie scores ranged from 38-50). There were huge heterogeneities among studies. There were 11 identified risk SNPs (rs242016, rs242014, rs10491972, rs242002, rs2978951, rs2738058, rs4284742, rs729876, rs149133391, rs1537415, rs12461706) at conventional GWAS significant level (pConclusionGWAS of periodontitis showed high heterogeneity of methodology used and provided limited SNPs statistics, making identifying reliable risk SNPs challenging. A clear guidance in dental research with requirement of expectation to make GWAS statistics available to other investigators are needed.