Polymorphisms in DNA Repair Genes and Association with Rheumatoid Arthritis in a Pilot Study on a Central European Population

• Published in: International journal of molecular sciences Vol. 24; no. 4; p. 3804
• Main Authors: Galita, Grzegorz, Sarnik, Joanna, Brzezinska, Olga, Budlewski, Tomasz, Dragan, Grzegorz, Poplawska, Marta, Majsterek, Ireneusz, Poplawski, Tomasz, Makowska, Joanna S
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01-02-2023; MDPI
• Subjects: Arthritis; Arthritis, Rheumatoid - genetics; Autoimmune diseases; B cells; Base excision repair; Case-Control Studies; Chronic illnesses; Deoxyribonucleic acid; Development and progression; Disease; DNA; DNA damage; DNA damage response; DNA methylation; DNA repair; DNA Repair - genetics; DNA repair genes; Etiology; Gene polymorphism; Genes; Genetic aspects; Genetic diversity; Genetic polymorphisms; Genetic Predisposition to Disease; Genetic research; Genotype; Genotyping; Homologous recombination; Homology; Humans; Hypotheses; Immune system; Immunomodulation; Inflammation; Kinases; Lymphoma; Malignancy; Metabolism; Neoplasms; Non-homologous end joining; Nucleotide excision repair; Nucleotides; Pathogenesis; Pilot Projects; Polymorphism; Polymorphism, Genetic; polymorphisms; Proteins; Remission (Medicine); Rheumatoid arthritis; Rheumatoid factor; Risk; Signal transduction; Single-nucleotide polymorphism; SNP; X-ray Repair Cross Complementing Protein 1 - genetics; XRCC1 protein; Poland; DNA repair genes; SNP; DNA damage response; polymorphisms; rheumatoid arthritis
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms24043804

Rheumatoid arthritis (RA) is a chronic, multifactorial autoimmune disease characterized by chronic arthritis, a tendency to develop joint deformities, and involvement of extra-articular tissues. The risk of malignant neoplasms among patients with RA is the subject of ongoing research due to the autoimmune pathogenesis that underlies RA, the common etiology of rheumatic disease and malignancies, and the use of immunomodulatory therapy, which can alter immune system function and thus increase the risk of malignant neoplasms. This risk can also be increased by impaired DNA repair efficiency in individuals with RA, as reported in our recent study. Impaired DNA repair may reflect the variability in the genes that encode DNA repair proteins. The aim of our study was to evaluate the genetic variation in RA within the genes of the DNA damage repair system through base excision repair (BER), nucleotide excision repair (NER), and the double strand break repair system by homologous recombination (HR) and non-homologous end joining (NHEJ). We genotyped a total of 28 polymorphisms in 19 genes encoding DNA repair-related proteins in 100 age- and sex-matched RA patients and healthy subjects from Central Europe (Poland). Polymorphism genotypes were determined using the Taq-man SNP Genotyping Assay. We found an association between the RA occurrence and
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polymorphisms. Our results suggest that polymorphisms of DNA damage repair genes may play a role in RA pathogenesis and may be considered as potential markers of RA.