Polymorphisms in DNA Repair Genes and Association with Rheumatoid Arthritis in a Pilot Study on a Central European Population Article Swipe
Grzegorz Galita
,
Joanna Sarnik
,
Olga Brzezińska
,
Tomasz Budlewski
,
Grzegorz Dragan
,
Marta Popławska
,
Ireneusz Majsterek
,
Tomasz Popławski
,
Joanna Makowska
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3390/ijms24043804
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/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 rs25487/XRCC1, rs7180135/RAD51, rs1801321/RAD51, rs963917/RAD51B, rs963918/RAD51B, rs2735383/NBS1, rs132774/XRCC6, rs207906/XRCC5, and rs861539/XRCC3 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.
Related Topics
Concepts
DNA repair
XRCC3
XRCC1
Single-nucleotide polymorphism
Rheumatoid arthritis
Nucleotide excision repair
Genetics
Genotyping
Medicine
Base excision repair
Pathogenesis
DNA mismatch repair
Immunology
Biology
Gene
Genotype
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/ijms24043804
- https://www.mdpi.com/1422-0067/24/4/3804/pdf?version=1676366652
- OA Status
- gold
- Cited By
- 11
- References
- 30
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4320920532
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4320920532Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3390/ijms24043804Digital Object Identifier
- Title
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Polymorphisms in DNA Repair Genes and Association with Rheumatoid Arthritis in a Pilot Study on a Central European PopulationWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-02-14Full publication date if available
- Authors
-
Grzegorz Galita, Joanna Sarnik, Olga Brzezińska, Tomasz Budlewski, Grzegorz Dragan, Marta Popławska, Ireneusz Majsterek, Tomasz Popławski, Joanna MakowskaList of authors in order
- Landing page
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https://doi.org/10.3390/ijms24043804Publisher landing page
- PDF URL
-
https://www.mdpi.com/1422-0067/24/4/3804/pdf?version=1676366652Direct link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
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https://www.mdpi.com/1422-0067/24/4/3804/pdf?version=1676366652Direct OA link when available
- Concepts
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DNA repair, XRCC3, XRCC1, Single-nucleotide polymorphism, Rheumatoid arthritis, Nucleotide excision repair, Genetics, Genotyping, Medicine, Base excision repair, Pathogenesis, DNA mismatch repair, Immunology, Biology, Gene, GenotypeTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
11Total citation count in OpenAlex
- Citations by year (recent)
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2025: 6, 2024: 3, 2023: 2Per-year citation counts (last 5 years)
- References (count)
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30Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| citation_normalized_percentile.value | 0.86311418 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |