Table 1 Suggestive associations observed for periodontal disease-related phenotypes
PhenotypeChr.SNPBPMAFORP-ValueGene(s) within 400 kbCorroborating Evidence
PD14p15rs733048128518950.222.401.0E-6HSP90AB2P, RAB28, BOD1L, and NKX3-2None
6q22-23rs104575251299146590.802.333.5E-6LAMA2 and ARHGAP18LAMA2 is expressed in periodontal ligament and gingival fibroblasts (Han and Amar 2002) and is differentially expressed between chronically inflamed and healthy periodontal ligaments (Gersdorff et al. 2008)
rs77499831299160480.192.392.4E-6
rs104575261299381940.782.266.0E-6
8q24rs78162211227653240.322.129.2E-6HAS2 and HAS2ASHAS2 and HAS2AS regulate hyaluronan, which is produced during tissue repair and has been shown to promote adhesion and proliferation of periodontal ligament cells (Takeda et al. 2011), and inhibits periodontal pathogens (Rodrigues et al. 2010)
rs38703711227663130.322.155.6E-6
rs9204551227693780.682.119.2E-6
11p15rs1279917267066330.642.125.1E-6Many genesnone
18q11rs11659841240408780.132.489.4E-6CDH2CDH2, a mediator of cell adhesion, is involved in periodontal ligament cell differentiation (Lin et al. 1999)
18q12rs8094794325067470.792.175.9E-6FHOD3, TPGS2, and KIAA1328None
PD23p22rs11713199319503250.701.876.9E-6OSBPL10, ZNF860, GPD1L, CMTM8, and STT3BNone
rs12630254319562310.301.906.7E-6
rs12630931319567710.301.896.2E-6
4p15rs733048128518950.221.954.4E-6HSP90AB2P, RAB28, BOD1L, and NKX3-2None
6q25rs22977781516867710.782.329.7E-6MTHFD1L, AKAP12, ZBTB2, RMND1, and ESR1ESR1 is involved in regulating alveolar bone formation and remodeling (Zhang et al. 2011a) and differentiation of periodontal ligament stem cells (Pan et al. 2011)
14q21rs3783412499263910.531.857.9E-6SOS2, L2HGDH, ATP5S, CDKL1, MAP4K5, ATL1, SAV1, and NINThis locus was the most significant association observed in an independent GWAS of severe chronic periodontitis in older adults (Divaris et al. 2013)
14q31rs12589327813689260.392.136.6E-6SEL1LNone
  • Chr, chromosome; SNP, single-nucleotide polymorphism; BP, base pair; MAF, minimum allele frequency; OR, odds ratio.