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Inicio Medicina Clínica (English Edition) Lack of association between rheumatoid arthritis and genetic variants rs10889677...
Journal Information
Vol. 151. Issue 5.
Pages 191-195 (September 2018)
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Vol. 151. Issue 5.
Pages 191-195 (September 2018)
Original article
Lack of association between rheumatoid arthritis and genetic variants rs10889677, rs11209026 and rs2201841 of IL-23R gene
Falta de asociación entre la artritis reumatoide y los polimorfismos genéticos rs10889677, rs11209026 y rs2201841 en el gen IL-23R
Agnieszka Paradowska-Goryckaa,
Corresponding author

Corresponding author.
, Damian Malinowskib,d, Ewa Haladyjc, Marzena Olesinskac, Krzysztof Safranowd, Andrzej Pawlike
a Department of Molecular Biology, National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw, Poland
b Department of Pharmacology, Pomeranian Medical University, Szczecin, Poland
c Department of Connective Tissue Diseases, National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw, Poland
d Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Szczecin, Poland
e Department of Physiology, Pomeranian Medical University, Szczecin, Poland
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Tables (6)
Table 1. Clinical and demographic parameters of patients with rheumatoid arthritis (RA).
Table 2. The distribution of IL23R genotypes in RA patients and control group.
Table 3. Linkage disequilibrium between loci in IL23 gene.
Table 4. Haplotype frequencies of IL23R (rs2201841, rs10889677, rs11209026) between RA patients and control group.
Table 5. The distribution of IL23R genotypes in RA patients with DAS28≤2.5 and DAS28>2.5.
Table 6. Analysis of clinical parameters in relation to IL23R genotypes.
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Additional material (1)

Rheumatoid arthritis (RA) is an autoimmune diseases, where different genetic variants in cytokine genes may play a pathogenic role. A GWAS in autoimmune diseases highlighted the IL-23R gene as a one of the susceptibility factors. We examined three candidate single nucleotide polymorphisms (SNPs) rs10889677, rs11209026 and rs2201841 of the IL-23R gene, as well as determined their possible association with RA in a Polish population.

Patients and methods

The IL-23R gene polymorphisms were genotyped for 422 RA patients and 348 healthy individuals using TaqMan SNP genotyping assay.


The genotypes frequency did not deviate from HWE in each examined group. A comparison of the allele as well as genotype frequencies of the IL-23R polymorphisms under codominant, dominant and recessive genetic model revealed no significant differences between RA patients and healthy subjects. We also demonstrated that IL-23R rs2201841 and rs11209026 as well as rs11209026 and rs10889677 were in complete linkage disequilibrium (D=1.0). Our genotype-phenotype analysis demonstrated that in carriers of rs10889677C and/or rs2201841A allele the RF, extra-articular manifestations and erosion were more frequent present than in patients with rs10889677A and/or rs2201841A allele, although this association was not significant.


Present findings indicated that the autoimmune disease-associated genetic variants in IL-23R gene are not associated with RA in the Polish population.

Rheumatoid arthritis
Cytokine gene polymorphisms
Interleukin 23

La artritis reumatoide (AR) es una enfermedad autoinmune en la que las diferentes variantes genéticas en los genes de las citocinas pueden desempeñar un papel patogénico. Un GWAS de enfermedades autoinmunes destacó al gen IL-23R como uno de los factores de susceptibilidad. Examinamos tres polimorfismos de nucleótido único candidatos (SNP), rs10889677, rs11209026 y rs2201841 del gen IL-23R, y determinamos su posible asociación con AR en una población de Polonia.

Pacientes y métodos

Se genotipificaron los polimorfismos del gen IL-23R en 422 pacientes de AR y 348 individuos sanos, utilizando la prueba TaqMan de genotipificación de SNP.


La frecuencia genotípica no se desvió de HWE en cada grupo examinado. La comparación del alelo, así como las frecuencias genotípicas de los polimorfismos de IL-23R con arreglo al modelo genético codomitante, dominante y recesivo no reveló diferencias significativas entre los pacientes de AR y los sujetos sanos. Demostramos también que rs2201841 y rs11209026 de IL-23R, al igual que rs11209026 y rs10889677, se hallaban en desequilibrio completo de ligamiento (D’ =1). Nuestro análisis genotipo-fenotipo demostró que en portadores del alelo rs10889677C y/o rs2201841A eran más frecuentes el FR, las manifestaciones extra-articulares y la erosión que en los pacientes portadores del alelo rs10889677A y/o rs2201841A, aunque esta asociación no fue significativa.


Los hallazgos presentes demostraron que las variantes genéticas asociadas a las enfermedades autoinmunes en el gen IL-23R no están asociadas a AR en la población polaca.

Palabras clave:
Artritis reumatoide
Polimorfismos del gen de las citocinas


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