Single nucleotide polymorphisms (SNPs) in the promoter region of CD209 (cluster of differentiation 209) may influence expression levels, and higher expression of CD209 on immune cells correlate with severity of cartilage destruction in patients with rheumatoid arthritis (RA). Due to the lack of a comprehensive study, this study aimed to investigate the CD209 promoter variants and haplotypes in a Taiwanese population and the association with RA development. Deoxyribonucleic acid (DNA) of peripheral blood mononuclear cells from 126 RA patients and 124 healthy controls was purified, and the CD209 gene promoter was amplified by polymerase chain reaction and analyzed by Sanger sequencing. Results showed that a novel variant -96C>A polymorphism in CD209 promoter was identified in the Taiwanese population, and the frequency was significantly higher in RA patients than in controls (11.51% vs. 2.42%, P < .0001). The odds ratio (OR) for the development of RA was 5.88 (95% CI 2.35-14.74, P < .0001). Other known variants were also evaluated; for instance, -1180 T/T (rs7359874) was increased in RA patients, and the OR for the development of RA was 3.26, 95% CI 0.85-12.52, P = .07). Besides, the haplotype frequencies were calculated; -1180A-939C-871 T-336 T-139 T-96A and -1180 T-939 T-871C-336 T-139C-96A were increased in RA patients (P = .004 and 0.05, respectively). In summary, CD209-96A variant could be an important factor for the development of RA in the Taiwanese population.
Keywords: CD209 polymorphism; autoimmunity; rheumatoid arthritis.
© 2021 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.