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A large candidate-gene association study suggests genetic variants at IRF5 and PRDM1 to be associated with aggressive periodontitis

Schaefer, A. S., Jochens, A., Dommisch, H., Graetz, C., Jockel-Schneider, Y., Harks, I., Staufenbiel, I., Meyle, J., Eickholz, P., Folwaczny, M., Laine, M., Noack, B., Wijmenga, C., Lieb, W., Bruckmann, C., Schreiber, S., Jepsen, S. & Loos, B. G., Dec-2014, In : Journal of Clinical Periodontology. 41, 12, p. 1122-1131 10 p.

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  • A large candidate-gene association study suggests genetic variants at IRF5

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DOI

  • Arne S. Schaefer
  • Arne Jochens
  • Henrik Dommisch
  • Christian Graetz
  • Yvonne Jockel-Schneider
  • Inga Harks
  • Ingmar Staufenbiel
  • Joerg Meyle
  • Peter Eickholz
  • Mathias Folwaczny
  • Marja Laine
  • Barbara Noack
  • Cisca Wijmenga
  • Wolfgang Lieb
  • Corinna Bruckmann
  • Stefan Schreiber
  • Soren Jepsen
  • Bruno G. Loos

Aim: Epidemiological and clinical studies indicated a relationship of periodontitis with rheumatoid arthritis (RA). We aimed to identify shared genetic susceptibility loci of RA and periodontitis.

Materials and Methods: Forty-seven risk genes of genome-wide significance of RA and SLE were genotyped in a German case-control sample of aggressive periodontitis (AgP), using Immunochip genotyping arrays (Illumina, 600 cases, 1440 controls) and Affymetrix 500 K Genotyping Arrays (280 cases and 983 controls). Significant associations were replicated in 168 Dutch AgP cases and 679 controls and adjusted for the confounders smoking and sex.

Results: Variants at IRF5 and PRDM1 showed association with AgP. Upon covariate adjustment for smoking and sex, the most strongly associated variant at IRF5 was the rare variant rs62481981 (p(pooled) = 0.0012, odds ratio [OR] = 3.1, 95% confidence interval [95% CI] = 1.6-6.1; 801 cases, 1476 controls). Within PRDM1 it was rs6923419 (p(pooled) = 0.004, OR = 0.7, 95% CI = 0.6-0.9; 833 cases, 1440 controls). The associations lost significance after correction for multiple testing in the replication. Both genes are implicated in beta-interferon signalling and are also genome-wide associated with SLE and inflammatory bowel disease.

Conclusion: The study gives no definite evidence for a pathogenic genetic link of periodontitis and RA but suggests IRF5 and PRDM1 as shared susceptibility factors.

Original languageEnglish
Pages (from-to)1122-1131
Number of pages10
JournalJournal of Clinical Periodontology
Volume41
Issue number12
Publication statusPublished - Dec-2014

    Keywords

  • inflammatory bowel disease, IRF5, periodontitis, PRDM1, rheumatoid arthritis, systemic lupus erythrematosus, SYSTEMIC-LUPUS-ERYTHEMATOSUS, GENOME-WIDE ASSOCIATION, PRIMARY BILIARY-CIRRHOSIS, RHEUMATOID-ARTHRITIS, SUSCEPTIBILITY LOCI, CROHNS-DISEASE, MULTIPLE-SCLEROSIS, RISK LOCI, POPULATION, REPLICATION

ID: 15975232