Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Feb 15:27:e928455.
doi: 10.12659/MSM.928455.

Polymorphisms in IRF5 and TYK2 Genes Are Associated with Rheumatoid Arthritis in a Chinese Han Population

Yuqin Peng  1 , Bingqian Chen  1 , Xiaowen Sheng  1 , Yufeng Qian  1
Affiliations

Polymorphisms in IRF5 and TYK2 Genes Are Associated with Rheumatoid Arthritis in a Chinese Han Population

Yuqin Peng et al. Med Sci Monit. .

Abstract

BACKGROUND The IRF5 and TYK2 gene polymorphisms are associated with autoimmune diseases. However, the relationship between the IRF5 and TYK2 gene polymorphisms and RA risk in the Chinese Han population was inconsistent. MATERIAL AND METHODS A total of 578 RA patients (case group) and 578 healthy controls (control group) were assessed in a case-control study. Genotyping of IRF5 (Exon 6 insertion/deletion (in/de), rs2004640, rs2070197, rs10954213) and TYK2 (rs280500, rs280519, rs280521, rs8108236, rs12720253) was performed by direct sequencing method. Data analysis was performed by SHEsis. RESULTS The rs2004640T allele (P=0.0003) and the dominant (P=0.001) and recessive (P=0.01) models of rs2004640 were associated with RA risk after stringent Bonferroni correction (0.05/4). The IRF5 exon 6 (in), rs2070197 and rs10954213 were not associated with RA (P>0.05). Two haplotypes of IRF5 (DTAT and DTGG) were associated with RA susceptibility (P<0.05). In addition, the frequencies of TYK2 rs280500A, rs280521A, and rs8108236A were significantly higher in the RA group compared with the control group (P<0.05). TYK2 rs280500, rs280521, and rs8108236 were associated with RA susceptibility in the dominant model, but the same was not observed for rs280519 and rs12720253 (P<0.05). Furthermore, 3 risk haplotypes (AAAGT, AGGAT, and GAAAT) and a protective haplotype (GAGGT) of TYK2 gene were associated with RA susceptibility (P<0.05). CONCLUSIONS Our results suggest that IRF5 rs2004640, TYK2 rs280500, rs280521, rs8108236, and haplotypes IRF5 (DTAT and DTGG) and TYK2 (AAAGT, AGGAT, GAAAT, and GAGGT) are susceptible factors for RA in a Chinese Han population.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest

None.

Figures

Figure 1
Figure 1
Pairwise linkage disequilibrium of IRF5 and TYK2 single-nucleotide polymorphisms in relation to rheumatoid arthritis. The numbers in the squares refer to the pairwise linkage disequilibrium measured as D’. Haplotype blocks were defined using a setting pairwise D’. (A) Linkage disequilibrium of IRF5 gene. (B) Linkage disequilibrium of TYK2 gene.
See this image and copyright information in PMC

References

    1. Wells PM, Adebayo AS, Bowyer RCE, et al. Associations between gut microbiota and genetic risk for rheumatoid arthritis in the absence of disease: A cross-sectional study. Lancet Rheumatology. 2020;2(7):e418–27. - PMC - PubMed
    1. Mehta N, Schneider LK, McCardell E. Rheumatoid arthritis: Selecting monotherapy versus combination therapy. J Clin Rheumatol. 2017 [Online ahead of print] - PubMed
    1. Gulati M, Farah Z, Mouyis M. Clinical features of rheumatoid arthritis. Medicine. 2018:211–15.
    1. Kawahito Y. [Guidelines for the management of rheumatoid arthritis]. Nippon Rinsho. 2016;74(6):939–43. [in Japanese] - PubMed
    1. Kim H, Sookgyung Cho, Lee J, et al. Increased risk of opportunistic infection in early rheumatoid arthritis. Int J Rheum Dis. 2019;22(1):355–60. - PubMed

MeSH terms