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Table 2 Chronic periodontitis GWAS loci and candidate genes from previous studies

From: Epigenetic findings in periodontitis in UK twins: a cross-sectional study

Gene symbola

450 K probes b

SNPs

Functional association with periodontitis or other diseases

References

NIN

2

rs12883458

Genome-wide significant association with severe chronic periodontitis

Rhodin et al. [1]

ABHD12B

2

rs12883458

WHAMM

9

rs2890313

KCNK1

0

rs11800854

Genome-wide significant association with red complex high colonization

DAB2IP

0

rs10760187

Genome-wide significant association with Porphyromonas gingivalis high colonization

CLEC19A

1

rs1156327

Genome-wide significant association with PCT1 (microbial community structure that has a high correlation and positive loading with all pathogens)

Offenbacher et al. [2]

TRA

0

rs3811273

TM9SF2P

1

rs9557237

GGTA2P

0

rs17184007

IFI16

1

rs1633266

RBMS3

0

rs17718700

C1QTNF7

0

rs4074082

Genome-wide significant association with PCT3 (high positive loading of GCF-IL-1β and Aggregatibacter actinomycetemcomitans)

TSNARE

1

rs9772881

HPVC1

0

rs10232172

Genome-wide significant association with PCT4 (mixed-infection community with high positive loading of GCF-IL1, weak positive loadings of Pn, Pi, and Td, and low levels of Aa)

SLC15A4

1

rs7135417

Genome-wide significant association with PCT5 (chronic periodontitis)

PKP2

2

rs6488099

SNRPN

9

rs904310

IL8

3

 

Regulation of innate and acquired immune response

Increased in gingival crevicular fluid from patients with periodontitis

Zhan et al. [11]

CD44

34

 

Smoking-induced periodontal tissue destruction

CXCL1

7

 

Stimulation of lipopolysaccharide in oral fibroblasts which leads to development of periodontal inflammation

IL6ST

17

 

Signal transducer for the interleukin family; regulates osteoclasts and calcium homeostasis

CCR1

11

 

Trigger of bone resorption process

MMP7

7

 

Innate host defense in periodontal tissues

MMP13

10

 

Immunoreactivity in gingival crevicular fluid

MMP3

12

 

Physiological tissue remodeling of periodontal tissue

TLR9

0

 

Protective role against alveolar bone loss in the absence of Porphyromonas gingivalis

IL18

15

 

Inflammation and modulation of the activity of macrophages and neutrophils.

Significantly higher in patients with chronic periodontitis compared to healthy controls

IFNB1

0

 

TNFa, via the autocrine action of IFNbeta, differentially regulates the expression of proinflammatory genes and DNA synthesis

GLT6D1

2

rs1537415

Genome-wide significant association with aggressive periodontitis

Schaefer et al. [12]

IL1B

8

 

The carriage rate of the R allele (frequency of N/R and R/R genotypes) among cases and controls

Laine et al. [13]

IL1RN

13

 

IL6

14

 

IL10

7

 

VDR

23

 

CD14

29

 

TLR4

4

 

MMP1

11

 
  1. aGene names in bold were not used in the analysis because they were not well represented on the Infinium HumanMethylation450k array
  2. bNumber of probes annotated to map to each gene in Infinium HumanMethylation450k array