NLRP3 Gene Polymorphisms in Rheumatoid Arthritis and Primary Sjogren's Syndrome Patients

Ruei-Nian Li; Tsan-Teng Ou; Chia-Hui Lin; Yuan-Zhao Lin; Tzu-Jung Fang; Yi-Jing Chen; Chia-Chun Tseng; Wan-Yu Sung; Cheng-Chin Wu; Jeng-Hsien Yen

doi:10.3390/diagnostics13020206

NLRP3 Gene Polymorphisms in Rheumatoid Arthritis and Primary Sjogren's Syndrome Patients

Diagnostics (Basel). 2023 Jan 5;13(2):206. doi: 10.3390/diagnostics13020206.

Authors

Ruei-Nian Li¹, Tsan-Teng Ou², Chia-Hui Lin², Yuan-Zhao Lin², Tzu-Jung Fang^{3

4}, Yi-Jing Chen⁵, Chia-Chun Tseng^{2

4}, Wan-Yu Sung², Cheng-Chin Wu², Jeng-Hsien Yen^{2

4

6}

Affiliations

¹ Department of Biomedical Science and Environmental Biology, College of Life Science, Kaohsiung Medical University, Kaohsiung 807, Taiwan.
² Division of Rheumatology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung 807, Taiwan.
³ Division of Geriatrics and Gerontology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung 807, Taiwan.
⁴ Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.
⁵ Department of Microbiology, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.
⁶ Institute of Medical Science and Technology, National Sun Yat-sen University, Kaohsiung 807, Taiwan.

Abstract

Aim: The activation of NLRP3 inflammasome leads to the stimulation of cytokines and is significantly involved in the pathogenesis and progression of autoimmune diseases. The purpose of this study is to examine the associations of NLRP3 gene polymorphisms with rheumatoid arthritis (RA) and primary Sjogren's syndrome (SS) patients. Methods: A total of 239 patients with RA, 285 patients with primary SS, and 170 healthy controls were enrolled. Genomic DNA was extracted from peripheral blood mononuclear cells, and gene polymorphisms were genotyped through the TaqMan assay. Antinuclear antibody (ANA), anti-Ro, and anti-CCP antibodies were detected using immunofluorescence immunoassay. Results: The T allele of rs4612666 CT elevated the susceptibility to RA disease. The RF titer during diagnosis of RA was significantly high in RA patients with the A allele of rs12079994 G/A polymorphism. The titer of anti-CCP during diagnosis of RA was high in the absence of the C allele of rs10754558 C/G polymorphisms in RA patients. Antinuclear antibody and anti-CCP were positively associated with the A allele of rs12079994 G/A polymorphism in primary SS. The C allele of rs4612666 C/T was negatively associated with ANA in primary SS. Conclusions: The results have shown that NLRP3 gene polymorphisms may play a role in the pathogenesis of RA and primary SS.

Keywords: NLRP3 gene polymorphisms; primary Sjogren’s syndrome; rheumatoid arthritis.

Grants and funding

This study was supported by grants from National Science and Technology council, MOST 111-2314-B-037-084 and Kaohsiung Medical University Hospital, KMUH110-0R23.