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Article

Genetic Factors of Predisposition and Clinical Characteristics of Rheumatoid Arthritis in Russian Patients

1
Institute of Molecular Medicine, Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia
2
Research Centre for Medical Genetics, 115522 Moscow, Russia
3
Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, 119991 Moscow, Russia
4
Department of Biotechnology, Sirius University of Science and Technology, 1 Olympic Ave, 354340 Sochi, Russia
*
Author to whom correspondence should be addressed.
Academic Editor: Roberto Díaz Peña
J. Pers. Med. 2021, 11(6), 469; https://doi.org/10.3390/jpm11060469
Received: 24 April 2021 / Revised: 21 May 2021 / Accepted: 21 May 2021 / Published: 25 May 2021
(This article belongs to the Special Issue Personalized Medicine in Autoimmune Diseases)
Rheumatoid arthritis (RA) is a multifactorial disease caused by a genetic predisposition and environmental factors. Predisposing alleles of various genes have a relatively small influence on the disease risk when they appear separately, but in combination, they predispose an individual to RA development. We genotyped 125 patients with RA including 60 SNPs and sequenced coding part of six genes by next-generation sequencing (NGS) technology on a target panel (IAD177464_185). According to our data, the alleles HLA-DRB1*04, HLA-DRB1*01, HLA-B*27, PTPN22 (rs2476601), TNF (rs1800629), TPMT (rs2842934), and IL4 (rs2243250), and genotypes HLA-DRB1*04:04, HLA-DRB1*01:16, PTPN22 (rs2476601), TPMT (rs2842934), were significantly associated with the RA development. Associations with clinical criteria (DAS28-CRP, HAQ-DI, and CDAI) and biochemical factors were investigated. We have shown that the PADI4 genotypes (rs11203367, rs2240340, rs11203366, and rs874881) are significantly associated with the baseline levels of DAS28-CRP, HAQ-DI, and CDAI; genotypes IL23R (rs7530511) and TNFRSF1A (rs748004, rs2228144) with the level of anti citrullinated peptide antibodies (ACPA); the genotypes DHODH (rs3213422) and MTHFR (rs180113) with the concentration of C-reactive protein (CRP); and the genotypes IL2RA (rs2104286), IRAK3 (rs11541076), and IL4R (rs1801275) with the level of rheumatoid factor (RF). Application of targeted NGS panel contributes to expanded genotyping to identify risk groups among the RA patients. View Full-Text
Keywords: rheumatoid arthritis; polymorphism; genetic predisposition; genotyping; NGS rheumatoid arthritis; polymorphism; genetic predisposition; genotyping; NGS
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MDPI and ACS Style

Vetchinkina, E.A.; Mikhaylenko, D.S.; Kuznetsova, E.B.; Deryagina, T.A.; Alekseeva, E.A.; Bure, I.V.; Zamyatnin, A.A., Jr.; Nemtsova, M.V. Genetic Factors of Predisposition and Clinical Characteristics of Rheumatoid Arthritis in Russian Patients. J. Pers. Med. 2021, 11, 469. https://doi.org/10.3390/jpm11060469

AMA Style

Vetchinkina EA, Mikhaylenko DS, Kuznetsova EB, Deryagina TA, Alekseeva EA, Bure IV, Zamyatnin AA Jr., Nemtsova MV. Genetic Factors of Predisposition and Clinical Characteristics of Rheumatoid Arthritis in Russian Patients. Journal of Personalized Medicine. 2021; 11(6):469. https://doi.org/10.3390/jpm11060469

Chicago/Turabian Style

Vetchinkina, Ekaterina A., Dmitry S. Mikhaylenko, Ekaterina B. Kuznetsova, Tatiana A. Deryagina, Ekaterina A. Alekseeva, Irina V. Bure, Andrey A. Zamyatnin Jr., and Marina V. Nemtsova. 2021. "Genetic Factors of Predisposition and Clinical Characteristics of Rheumatoid Arthritis in Russian Patients" Journal of Personalized Medicine 11, no. 6: 469. https://doi.org/10.3390/jpm11060469

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