A large candidate-gene association study suggests genetic variants at IRF5 and PRDM1 to be associated with aggressive periodontitisSchaefer, 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.
Research output: Contribution to journal › Article › Academic › peer-review
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.
|Number of pages||10|
|Journal||Journal of Clinical Periodontology|
|Publication status||Published - Dec-2014|
- 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