Common Polymorphisms in IFI16 and AIM2 Genes Are Associated With Periodontal Disease

Julie T Marchesan; Yizu Jiao; Kevin Moss; Kimon Divaris; William Seaman; Jennifer Webster-Cyriaque; Shaoping Zhang; Ning Yu; Catharine Song; Sompop Bencharit; Ricardo Teles; Steven Offenbacher

doi:10.1902/jop.2017.160553

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Common Polymorphisms in IFI16 and AIM2 Genes Are Associated With Periodontal Disease

Journal article

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Common Polymorphisms in IFI16 and AIM2 Genes Are Associated With Periodontal Disease

Julie T Marchesan, Yizu Jiao, Kevin Moss, Kimon Divaris, William Seaman, Jennifer Webster-Cyriaque, Shaoping Zhang, Ning Yu, Catharine Song, Sompop Bencharit, …

Journal of periodontology (1970), Vol.88(7), pp.663-672

07/2017

DOI: 10.1902/jop.2017.160553

PMCID: PMC5695043

PMID: 28387608

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https://hdl.handle.net/2027.42/142266View

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Abstract

The single nucleotide polymorphism (SNP) context of a previously identified periodontitis-associated locus is investigated, and its association with microbial, biologic, and periodontal disease clinical parameters is examined.\nA 200-kb spanning region of 1q12 previously highlighted in a genome-wide association scan among 4,766 European American individuals (SNP rs1633266) was annotated. Two haplotype blocks were selected. Association of these polymorphisms with data on microbial plaque composition, gingival crevicular fluid (GCF)-interleukin (IL)-1β levels, and clinical parameters of periodontal disease were examined. Descriptive analysis of IFI16 and AIM2 protein expression in gingival tissues from healthy individuals (n = 2) and individuals with chronic periodontitis (n = 2) was done via immunohistochemistry.\nThe highlighted locus is a 100-kb region containing the interferon γ-inducible protein 16 (IFI16) and absent in melanoma 2 (AIM2) genes. Two haplotype blocks, rs6940 and rs1057028, were significantly associated with increased extent bleeding on probing and levels of microorganisms Porphyromonas gingivalis, Tannerella forsythia, and Campylobacter rectus (P ≤0.05). Haplotype block rs1057028 was also significantly associated with pathogens Fusobacterium nucleatum and Aggregatibacter actinomycetemcomitans, increased GCF-IL-1β levels, and extent of probing depth ≥4 mm (P ≤0.05). Prevalence of severe periodontitis (biofilm-gingival interface P3 classification) was positively associated with haplotype block rs1057028. Similar trends were observed for haplotype block rs1057028. IFI16 and AIM2 protein expression was observed in multiple cell types of gingival tissues, including inflammatory cells.\nThis study found IFI16 and AIM2 SNPs associated with higher levels of periodontal microorganisms and an increased percentage of periodontal disease clinical parameters, suggesting the need for functional studies and additional fine-mapping of variants in the 1q12-locus.

Genome-Wide Association Study

Humans

Middle Aged

European Continental Ancestry Group

Male

Nuclear Proteins - metabolism

Aggregatibacter actinomycetemcomitans - isolation & purification

Phosphoproteins - genetics

DNA-Binding Proteins - genetics

Phosphoproteins - metabolism

DNA-Binding Proteins - metabolism

Dental Plaque - microbiology

Gingiva - metabolism

Chronic Periodontitis - microbiology

Chronic Periodontitis - genetics

Female

Aged

Polymorphism, Single Nucleotide

Chronic Periodontitis - metabolism

Nuclear Proteins - genetics

Fusobacterium nucleatum - isolation & purification

Gingiva - microbiology

Details

Title: Subtitle: Common Polymorphisms in IFI16 and AIM2 Genes Are Associated With Periodontal Disease
Creators: Julie T Marchesan - General Oral Health Clinic, School of Dentistry, University of North Carolina at Chapel Hill
Yizu Jiao - Department of Periodontology, School of Dentistry, University of North Carolina at Chapel Hill, Chapel Hill, NC
Kevin Moss - General Oral Health Clinic, School of Dentistry, University of North Carolina at Chapel Hill
Kimon Divaris - Department of Pediatric Dentistry, School of Dentistry and Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill
William Seaman - UNC Lineberger, School of Medicine, University of North Carolina at Chapel Hill
Jennifer Webster-Cyriaque - Department of Dental Ecology, School of Dentistry, University of North Carolina at Chapel Hill
Shaoping Zhang - General Oral Health Clinic, School of Dentistry, University of North Carolina at Chapel Hill
Ning Yu - Department of Periodontics and Oral Medicine, University of Michigan, Ann Arbor, MI
Catharine Song - Department of Periodontology, School of Dentistry, University of North Carolina at Chapel Hill, Chapel Hill, NC
Sompop Bencharit - Department of Prosthodontics, School of Dentistry, University of North Carolina at Chapel Hill
Ricardo Teles - General Oral Health Clinic, School of Dentistry, University of North Carolina at Chapel Hill
Steven Offenbacher - General Oral Health Clinic, School of Dentistry, University of North Carolina at Chapel Hill
Resource Type: Journal article
Publication Details: Journal of periodontology (1970), Vol.88(7), pp.663-672
DOI: 10.1902/jop.2017.160553
PMID: 28387608
PMCID: PMC5695043
NLM abbreviation: J Periodontol
ISSN: 0022-3492
eISSN: 1943-3670
Publisher: United States
Grant note: HHSN268201100010C / NHLBI NIH HHS\nUL1 RR025005 / NCRR NIH HHS\nHHSN268201100005C / NHLBI NIH HHS\nR01 HL059367 / NHLBI NIH HHS\nHHSN268201100007C / NHLBI NIH HHS\nU01 HG004402 / NHGRI NIH HHS\nT90 DE021986 / NIDCR NIH HHS\nHHSN268201100008C / NHLBI NIH HHS\nHHSN268201100008I / NHLBI NIH HHS\nR01 HL086694 / NHLBI NIH HHS\nR90 DE022527 / NIDCR NIH HHS\nHHSN268201100005G / NHLBI NIH HHS\nR01 DE023836 / NIDCR NIH HHS\nHHSN268201100005I / NHLBI NIH HHS\nP30 ES010126 / NIEHS NIH HHS\nR01 HL087641 / NHLBI NIH HHS\nHHSN268201100006C / NHLBI NIH HHS\nHHSN268201100009C / NHLBI NIH HHS\nR01 DE011551 / NIDCR NIH HHS\nHHSN268201100011C / NHLBI NIH HHS\nR01 DE021418 / NIDCR NIH HHS\nHHSN268201100011I / NHLBI NIH HHS\nHHSN268201100007I / NHLBI NIH HHS\nHHSN268201100009I / NHLBI NIH HHS
Language: English
Date published: 07/2017
Academic Unit: Periodontics
Record Identifier: 9984065718902771

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