VAV1 Gene Polymorphisms in Patients with Rheumatoid Arthritis

Andrzej Pawlik, Damian Malinowski, Agnieszka Paradowska-Gorycka, Krzysztof Safranow and Violetta Dziedziejko
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Andrzej Pawlik: Department of Physiology, Pomeranian Medical University, 70-111 Szczecin, Poland
Damian Malinowski: Department of Experimental and Clinical Pharmacology, Pomeranian Medical University, 70-111 Szczecin, Poland
Agnieszka Paradowska-Gorycka: Department of Molecular Biology, National Institute of Geriatrics, Rheumatology and Rehabilitation, 02-637 Warsaw, Poland
Krzysztof Safranow: Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, 70-111 Szczecin, Poland
Violetta Dziedziejko: Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, 70-111 Szczecin, Poland

IJERPH, 2020, vol. 17, issue 9, 1-10

Abstract: Introduction: Rheumatoid arthritis (RA) is an important public health problem because this disease often causes disability. RA is a chronic, destructive autoimmune disease that leads to joint destruction and the development of extraarticular manifestations. VAV1 is an intracellular signal transduction protein that plays a significant role in signal transduction in T cells and affects T cell development, proliferation and activation. The VAV1 gene contains 27 exons and is located on chromosome 19. In this study, we examined the association between VAV1 rs2546133 and rs2617822 polymorphisms and RA. Methods: We examined 422 patients with RA and 338 healthy subjects as the control group. Results: Among RA patients, there was a statistically significant increase in the frequency of VAV1 rs2546133 polymorphism in T allele carriers (TT + CT versus CC, odds ratio: 1.69, 95% confidence interval 1.05–2.73, p = 0.035). There was no statistically significant difference in the distribution of the rs2617822 genotypes and alleles between RA patients and the control group. Additionally, patients who carried the VAV1 rs2546133 T and rs2617822 G allele presented an increased frequency of extraarticular manifestations: vasculitis, amyloidosis and Sjogren syndrome. Conclusions: The results suggest an association between VAV1 gene rs2617822 polymorphism and RA.

Keywords: VAV1; rheumatoid arthritis; polymorphism (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2020
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