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Background  Rheumatoid arthritis (RA) and periodontitis (PD) are proven to share common risk markers, including genetic factors. In the present study we focused on genetic variants in  PTPN22  (rs2476601),  PADI4 ( rs2240340),  CTLA4  genes (rs3087243) and its impact on RA and PD.    Materials and methods  In the study 111 RA patients and 256 systemically healthy controls were involved. A subdivision of patients and controls was carried out according the severity of periodontitis (no/level 1 PD vs. level 2 PD).    Results  I. Evaluating the genetic impact on the occurrence of RA the T allele of rs2476601 ( PTPN22)  (bivariate:  p  < 0.001; multivariate:  p  = 0.018) and T allele of rs2240340 ( PADI4 ) (bivariate:  p  = 0.006; multivariate:  p  = 0.070) were associated with an increased vulnerability to RA.  II. Investigating the genetic influence on level 2 PD the T allele of rs2476601 ( PTPN22)  was shown to be associated with a higher susceptibility to PD within the RA group (bivariate: p = 0.043; multivariate:  p  = 0.024).  III. The T allele of rs2476601 ( PTPN22)  was proven to be a significant marker of RA and level 2 PD comorbidity (bivariate:  p  < 0.001; multivariate:  p  = 0.028).    Conclusions  These results support the thesis that genetic variations may represent a possible link between PD and RA. The study increases knowledge about disease-specific and cross-disease genetic pattern.

rs2476601 in PTPN22 gene in rheumatoid arthritis and periodontitis—a possible interface?