Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years

G3 (Bethesda). 2014 Feb 19;4(2):307-14. doi: 10.1534/g3.113.008755.


The etiology of chronic periodontitis clearly includes a heritable component. Our purpose was to perform a small exploratory genome-wide association study in adults ages 18-49 years to nominate genes associated with periodontal disease-related phenotypes for future consideration. Full-mouth periodontal pocket depth probing was performed on participants (N = 673), with affected status defined as two or more sextants with probing depths of 5.5 mm or greater. Two variations of this phenotype that differed in how missing teeth were treated were used in analysis. More than 1.2 million genetic markers across the genome were genotyped or imputed and tested for genetic association. We identified ten suggestive loci (p-value ≤ 1E-5), including genes/loci that have been previously implicated in chronic periodontitis: LAMA2, HAS2, CDH2, ESR1, and the genomic region on chromosome 14q21-22 between SOS2 and NIN. Moreover, we nominated novel loci not previously implicated in chronic periodontitis or related pathways, including the regions 3p22 near OSBPL10 (a lipid receptor implicated in hyperlipidemia), 4p15 near HSP90AB2P (a heat shock pseudogene), 11p15 near GVINP1 (a GTPase pseudogene), 14q31 near SEL1L (an intracellular transporter), and 18q12 in FHOD3 (an actin cytoskeleton regulator). Replication of these results in additional samples is needed. This is one of the first research efforts to identify genetic polymorphisms associated with chronic periodontitis-related phenotypes by the genome-wide association study approach. Though small, efforts such this are needed in order to nominate novel genes and generate new hypotheses for exploration and testing in future studies.

Keywords: GWAS; chronic periodontitis.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Adult
  • Antigens, CD / genetics
  • Cadherins / genetics
  • Case-Control Studies
  • Chronic Periodontitis / diagnosis
  • Chronic Periodontitis / genetics*
  • Cytoskeletal Proteins / genetics
  • Estrogen Receptor alpha / genetics
  • Female
  • Formins
  • Genetic Loci*
  • Genome, Human*
  • Genome-Wide Association Study
  • Glucuronosyltransferase / genetics
  • HSP90 Heat-Shock Proteins / genetics
  • Humans
  • Hyaluronan Synthases
  • Laminin / genetics
  • Male
  • Microfilament Proteins
  • Middle Aged
  • Nuclear Proteins / genetics
  • Periodontal Pocket / diagnosis
  • Periodontal Pocket / genetics*
  • Receptors, Steroid / genetics
  • Son of Sevenless Proteins / genetics


  • Antigens, CD
  • CDH2 protein, human
  • Cadherins
  • Cytoskeletal Proteins
  • ESR1 protein, human
  • Estrogen Receptor alpha
  • FHOD3 protein, human
  • Formins
  • HSP90 Heat-Shock Proteins
  • Laminin
  • Microfilament Proteins
  • NIN protein, human
  • Nuclear Proteins
  • Receptors, Steroid
  • SOS2 protein, human
  • Son of Sevenless Proteins
  • laminin alpha 2
  • oxysterol binding protein
  • Glucuronosyltransferase
  • HAS2 protein, human
  • Hyaluronan Synthases