Key result
Carrying the T-allele of rs4537545 in the IL6R gene was associated with a higher risk of developing rheumatoid arthritis compared to C-allele carriers (OR 2.103; 95% CI 1.032-4.287).
Why the study?
The study was conducted to analyze the association between the rs4537545 (C>T) polymorphic marker in the IL6R gene and the development of rheumatoid arthritis in the population of the Republic of Karelia.
Does the T-allele of rs4537545 in the IL6R gene increase the risk of developing rheumatoid arthritis compared to the C-allele?
Case-Control (n=348)
Does the T-allele of rs4537545 in the IL6R gene increase the risk of developing rheumatoid arthritis compared to the C-allele?
Odds Ratio: 2.103 (95% CI 1.032–4.287)
The T-allele of the rs4537545 polymorphism in the IL6R gene is associated with an increased risk of developing rheumatoid arthritis in the Karelian population.
Supports further IL6R variant investigation in RA; does not yet inform clinical risk prediction.
Objective: to analyze the association of the polymorphic marker rs4537545 (C>T) in the IL6R gene with the development of rheumatoid arthritis (RA) in the population of the Republic of Karelia. Subjects and methods. The investigation included 190 samples of DNA extracted from the whole blood of healthy individuals and 158 samples from patients with RA. Genotyping was performed using a polymerase chain reaction (PCR)-restriction fragment length polymorphism analysis. The expression level of IL6 and IL6R genes in peripheral blood leukocytes (PBLs) from healthy individuals was assessed by real-time PCR. The plasma content of interleukin-6 (IL-6) in healthy donors was measured by enzyme-linked immunosorbent assay (ELISA). Results and discussion. An association of the polymorphic marker rs4537545 (C>T) in the IL6R gene with the development of rheumatoid arthritis was found in the population of the Republic of Karelia. The risk of RA in the persons carrying the T-allele of rs4537545 in the genotypes was 2.1 times higher than that in the C-allele carriers (odds ratio (OR), 2.103; 95% confidence interval, 1.032-4.287). The genotypes were ascertained to have an effect on the level of IL6R gene in PBL and on the plasma content of IL-6 in the healthy donors. Conclusion. The polymorphic marker rs4537545 (C>T) in the IL6R gene is involved in the genetic predisposition of humans to RA development through modulation of the level of transcriptional activity of the IL6R gene and the content of IL-6.
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Топчиева et al. (2020) conducted a case-control in Rheumatoid arthritis (n=348). T-allele of rs4537545 (C>T) in the IL6R gene vs. C-allele carriers was evaluated on development of rheumatoid arthritis (OR 2.103, 95% CI 1.032-4.287). Carrying the T-allele of rs4537545 in the IL6R gene was associated with a higher risk of developing rheumatoid arthritis compared to C-allele carriers (OR 2.103; 95% CI 1.032-4.287).
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