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Association of DNA damage response pathway genes with rheumatoid arthritis risks: a case-control study


  • Mun, S. et al. Proteomics approach for the discovery of rheumatoid arthritis biomarkers using mass spectrometry. Int. J. Mol. Sci. 20 (18), 4368 (2019).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Radu, A. F. & Bungau, S. G. Management of rheumatoid arthritis: an overview. Cells 10 (11), 2857 (2021).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Padyukov, L. Genetics of rheumatoid arthritis. In Seminars in immunopathology. 44, 47–62 (2022).

  • Mukhtar, M. et al. Vitamin D Receptor Gene Polymorphism: an Important Predictor of Arthritis Development (BioMed research international, 2019).

  • Toledano, E. et al. A meta-analysis of mortality in rheumatic diseases. Reumatologia Clin. 8 (6), 334–341 (2012).

    Article 

    Google Scholar 

  • Curtis, J. R. & Singh, J. A. Use of biologics in rheumatoid arthritis: current and emerging paradigms of care. Clin. Ther. 33 (6), 679–707. https://doi.org/10.1016/j.clinthera.2011.05.044 (2011).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Zhang, J. et al. Impact of biologic agents with and without concomitant methotrexate and at reduced doses in older rheumatoid arthritis patients. Arthritis Care Res. (Hoboken). 67 (5), 624–632. https://doi.org/10.1002/acr.22510 (2015).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Singh, P., Kumar, A. & Chandra, P. Rheumatoid factor versus anti – cyclic citrullinated peptide antibody as screening tool for rheumatoid arthritis in an ophthalmic clinic. Indian J. Ophthalmol. 68 (1), 236–238. https://doi.org/10.4103/ijo.IJO_526_19 (2020).

    Article 
    PubMed 

    Google Scholar 

  • Hassan Sr, W. M. & Oxidative, D. N. A. Damage and zinc status in patients with rheumatoid arthritis in Duhok Iraq. Cureus 16(1), 1–7 (2024).

  • Beck, C., Robert, I., Reina-San-Martin, B., Schreiber, V. & Dantzer, F. Poly (ADP-ribose) polymerases in double-strand break repair: focus on PARP1, PARP2 and PARP3. Exp. Cell. Res. 329 (1), 18–25 (2014).

    Article 
    CAS 

    Google Scholar 

  • García, S. & Conde, C. The role of Poly (ADP-ribose) Polymerase-1 in rheumatoid arthritis. Mediators Inflamm. 2015 (1), 837250 (2015).

  • Ghodke-Puranik, Y. & Niewold, T. B. Immunogenetics of systemic lupus erythematosus: A comprehensive review. J. Autoimmun. 64, 125–136. https://doi.org/10.1016/j.jaut.2015.08.004 (2015).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Crow, Y. J. & Rehwinkel, J. Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Hum. Mol. Genet. 18, 130–136 (2009).

    Article 

    Google Scholar 

  • Wang, Y., Luo, W. & Wang, Y. PARP-1 and its associated nucleases in DNA damage response. DNA Repair. 81, 102651 (2019).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Yamanishi, Y. et al. Regulation of joint destruction and inflammation by p53 in collagen-induced arthritis. Am. J. Pathol. 160 (1), 123–130 (2002).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Cheng, Q. & Chen, J. Mechanism of p53 stabilization by ATM after DNA damage. Cell. Cycle. 9 (3), 472–478 (2010).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Dedmon, L. E. The genetics of rheumatoid arthritis. J. Rheumatol. 59 (10), 2661–2670 (2020).

    Article 
    CAS 

    Google Scholar 

  • Ling, D., Salvaterra, P. M. & Robust RT-qPCR data normalization: validation and selection of internal reference genes during post-experimental data analysis. PloS one, 6(3), e17762. (2011).

  • Debreova, M. et al. Rheumatoid arthritis: from synovium biology to cell-based therapy. Cytotherapy 24 (4), 365–375 (2022).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Souliotis, V. L., Vlachogiannis, N. I., Pappa, M., Argyriou, A. & Sfikakis, P. P. DNA damage accumulation, defective chromatin organization and deficient DNA repair capacity in patients with rheumatoid arthritis. Clin. Immunol. 203, 28–36 (2019).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Arya, R. & Bassing, C. H. V (D) J recombination exploits DNA damage responses to promote immunity. Trends Genet. 33 (7), 479–489 (2017).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Fang, Q., Zhou, C. & Nandakumar, K. S. Molecular and cellular pathways contributing to joint damage in rheumatoid arthritis. Mediators Inflamm. 2020 (1) 3830212 (2020).

  • Taghadosi, M., Adib, M., Jamshidi, A., Mahmoudi, M. & Farhadi, E. The p53 status in rheumatoid arthritis with focus on fibroblast-like synoviocytes. Immunol. Res. 69 (3), 225–238 (2021).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Shao, L. DNA damage response signals transduce stress from rheumatoid arthritis risk factors into T cell dysfunction. Front. Immunol. 9, 415589 (2018).

    Article 

    Google Scholar 

  • Hua, R. et al. Association between the PARP1 Val762Ala polymorphism and cancer risk: evidence from 43 studies. PLoS One 9(1), e87057 (2014).

  • Bashir, K., Sarwar, R., Saeed, S., Mahjabeen, I. & Kayani, M. A. Interaction among susceptibility genotypes of PARP1 SNPs in thyroid carcinoma. PLoS One 13(9), e0199007 (2018).

  • Zhang, Q. et al. PARP-1 Val762Ala polymorphism, CagA + H. Pylori infection and risk for gastric cancer in Han Chinese population. Mol. Biol. Rep. 36, 1461–1467 (2009).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Wang, X. B. et al. PARP-1 variant Rs1136410 confers protection against coronary artery disease in a Chinese Han population: a two-stage case-control study involving 5643 subjects. Front. Physiol. 8, 916 (2017).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Hur, J. W. et al. Poly (ADP-ribose) polymerase (PARP) polymorphisms associated with nephritis and arthritis in systemic lupus erythematosus. Rheumatol 45 (6), 711–717 (2006).

    Article 
    CAS 

    Google Scholar 

  • Onaran, İ. et al. The Val762Ala Polymorphism in the Poly (ADP-ribose) Polymerase-1 gene is not associated with susceptibility in Turkish rheumatoid arthritis patients. Rheumatol. Int. 29, 797–800 (2009).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Kauppinen, T. M. Multiple roles for Poly (ADP-ribose) Polymerase-1 in neurological disease. Neurochem Int. 50 (7–8), 954–958 (2007).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Koc, A. et al. Association of three SNPs in the PARP-1 gene with hashimoto’s thyroiditis. Hum. Genome Var. 1 (1), 1–6 (2014).

    Article 
    MathSciNet 

    Google Scholar 

  • Qian, D. et al. A pleiotropic ATM variant (rs1800057 C > G) is associated with risk of multiple cancers. Carcinogenesis 43 (1), 60–66 (2022).

    Article 
    PubMed 

    Google Scholar 

  • Mehmood, A., Kayani, M. A., Ahmed, M. W., Nisar, A. & Mahjabeen, I. Association between single nucleotide polymorphisms of DNA damage response pathway genes and increased risk in breast cancer. Future Oncol. 16 (26), 1977–1995 (2020).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Navinchandra, S. A. et al. ATM polymorphisms and their relationship to radiation toxicity in breast Cancer patients. Braz Appl. Sci. Rev. 4 (5), 3123–3148 (2020).

    Article 

    Google Scholar 

  • Bensouilah, F. Z. et al. Association of single nucleotide polymorphisms with renal cell carcinoma in Algerian population. AFR. J. UROL. 26, 1–8 (2020).

    Article 

    Google Scholar 

  • GieleciÅ„ska, A., Kciuk, M., KoÅ‚at, D., Kruczkowska, W. & Kontek, R. Polymorphisms of DNA repair genes in thyroid Cancer. Int J. Mol. Sci 25(11), 5995 (2024).

  • Mensah, K. A. et al. Impaired ATM activation in B cells is associated with bone resorption in rheumatoid arthritis. Sci. Transl Med. 11 (519), 4626 (2019).

    Article 

    Google Scholar 

  • Xavier, C. B. et al. Suspected germline TP53 variants and clonal hematopoiesis of indeterminate potential: lessons learned from a molecular tumor board. Oncologist 28 (7), 624–627 (2023).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Szeliga, M., BogaciÅ„ska-KaraÅ›, M., Kuźmicz, K., Rola, R. & Albrecht, J. Downregulation of GLS2 in glioblastoma cells is related to DNA hypermethylation but not to the p53 status. Mol. Carcinog. 55 (9), 1309–1316 (2016).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Fortuno, C. et al. A quantitative model to predict pathogenicity of missense variants in the TP53 gene. Hum. Mutat. 40 (6), 788–800 (2019).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Song, R. et al. Clinical features of Li-Fraumeni syndrome in Korea. Cancer Res. Treat. 56 (1), 334 (2024).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Mousavi, M. J. et al. Transformation of fibroblast-like synoviocytes in rheumatoid arthritis; from a friend to foe. Auto Immun. Highlights. 12, 1–13 (2021).

    Google Scholar 

  • Cooks, T., Harris, C. C. & Oren, M. Caught in the cross fire: p53 in inflammation. Carcinogenesis 35 (8), 1680–1690 (2014).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Nezos, A. et al. TREX1 variants in sjogren’s syndrome related lymphomagenesis. Cytokine 132, 154781 (2020).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Chauvin, S. D. et al. Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in drosophila, mice, and humans. Nat. Commun. 15 (1), 1–23 (2024).

    Article 

    Google Scholar 

  • Namjou, B. et al. Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. Genes Immun. 12 (4), 270–279 (2011).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Queiroz, M. A. F. TREX1 531 C/T polymorphism and autoantibodies associated with the immune status of HIV-1-infected individuals. Int. J. Mol. Sci. 24 (11), 9660 (2023).

    Article 
    MathSciNet 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Castañeda-Delgado, J. E. et al. Type I interferon gene response is increased in early and established rheumatoid arthritis and correlates with autoantibody production. Front. Immunol. 8, 285 (2017).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Neidhart, M., Karouzakis, E., Schumann, G. G., Gay, R. E. & Gay, S. Trex-1 deficiency in rheumatoid arthritis synovial fibroblasts. Arthritis Rheum. 62 (9), 2673–2679 (2010).

    Article 
    CAS 
    PubMed 

    Google Scholar 

  • Pazzaglia, S. & Pioli, C. Multifaceted role of PARP-1 in DNA repair and inflammation: pathological and therapeutic implications in cancer and non-cancer diseases. Cells 9 (1), 41 (2019).

    Article 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Gil-Kulik, P. et al. Different regulation of PARP1, PARP2, PARP3 and TRPM2 genes expression in acute myeloid leukemia cells. BMC cancer. 20, 1–9 (2020).

    Article 

    Google Scholar 

  • Kupczyk, P. et al. PARP1 as a marker of an aggressive clinical phenotype in cutaneous melanoma—a clinical and an in vitro study. Cells 10 (2), 286 (2021).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Li, G. The rheumatoid arthritis risk variant CCR6DNP regulates CCR6 via PARP-1. PLoS Genet. 12(9), e1006292 (2016).

  • Rondeau, S. ATM has a major role in the double-strand break repair pathway dysregulation in sporadic breast carcinomas and is an independent prognostic marker at both mRNA and protein levels. Br. J. Cancer. 112 (6), 1059–1066 (2015).

    Article 
    MathSciNet 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Xiong, H. & Zhang, J. Expression and clinical significance of ATM and PUMA gene in patients with colorectal cancer. Oncol. Lett. 14 (6), 7825–7828 (2017).

    PubMed 
    PubMed Central 

    Google Scholar 

  • Pádua, J. D. B. mRNA expression and methylation of the RAD51, ATM, ATR, BRCA1, and BRCA2 genes in gastric adenocarcinoma. Biomark 19, 11772719231225206 (2024).

    Google Scholar 

  • Shao, L. et al. Deficiency of the DNA repair enzyme ATM in rheumatoid arthritis. J. Exp. Med. 206 (6), 1435–1449 (2009).

    Article 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar 

  • Peng, C. Y., Hu, L., Wu, Z. J., Wang, J. & Cai, R. L. Effects of moxibustion on p53, SLC7A11, and GPX4 expression in synovial tissues of rats with adjuvant arthritis. J. Acupunct. Res. 47 (1), 21–26 (2022).

    Google Scholar 

  • Malemud, C. J., Haque, A., Louis, N. A. & Wang, J. Immune response and apoptosis–introduction. J. Clin. Cell. Immunol. 3, e001 (2012).

    Google Scholar 

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