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类风湿性关节炎和牙周炎中PTPN22基因的rs2476601——一个可能的关联点?

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

作者信息

Schulz Susanne, Zimmer Pauline, Pütz Natalie, Jurianz Elisa, Schaller Hans-Günter, Reichert Stefan

机构信息

Department of Operative Dentistry and Periodontology, Martin Luther University Halle-Wittenberg, Halle, Germany.

出版信息

J Transl Med. 2020 Oct 15;18(1):389. doi: 10.1186/s12967-020-02548-w.

Abstract

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.

摘要

背景

类风湿关节炎(RA)和牙周炎(PD)已被证实有共同的风险标志物,包括遗传因素。在本研究中,我们重点关注蛋白酪氨酸磷酸酶非受体型22(PTPN22)基因(rs2476601)、肽基精氨酸脱亚氨酶4(PADI4)基因(rs2240340)、细胞毒性T淋巴细胞相关抗原4(CTLA4)基因(rs3087243)的基因变异及其对RA和PD的影响。

材料与方法

本研究纳入了111例RA患者和256例全身健康对照者。根据牙周炎的严重程度(无/1级PD与2级PD)对患者和对照者进行了细分。

结果

I. 评估基因对RA发病的影响时,rs2476601(PTPN22)的T等位基因(双变量分析:p<0.001;多变量分析:p = 0.018)和rs2240340(PADI4)的T等位基因(双变量分析:p = 0.006;多变量分析:p = 0.070)与RA易感性增加相关。II. 研究基因对2级PD的影响时,rs2476601(PTPN22)的T等位基因在RA组中显示与PD易感性较高相关(双变量分析:p = 0.043;多变量分析:p = 0.024)。III. rs2476601(PTPN22)的T等位基因被证实是RA与2级PD合并症的重要标志物(双变量分析:p<0.001;多变量分析:p = 0.028)。

结论

这些结果支持了基因变异可能是PD与RA之间潜在联系的论点。该研究增加了对疾病特异性和跨疾病遗传模式的认识。

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