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Related Experiment Video

Updated: May 9, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Differential expression and function of human IL-12Rβ2 polymorphic variants.

Roelof A de Paus¹, Marije A Geilenkirchen, Sander van Riet

¹Department of Infectious Diseases, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.

Molecular Immunology

|August 6, 2013

Summary

Polymorphisms in the interleukin-12 receptor beta 2 (IL-12Rβ2) gene impact immune responses. Four variants showed reduced IL-12 signaling, suggesting a role in immune and infectious diseases.

Keywords:

Autoimmunity IL-12 IL-12Rβ2 IL12RB2 Mutation Polymorphism

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Isolation and Th17 Differentiation of Naïve CD4 T Lymphocytes

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Published on: September 26, 2013

Area of Science:

Immunology
Genetics
Molecular Biology

Background:

The interleukin-12 receptor (IL-12R), composed of IL-12Rβ1 and IL-12Rβ2 subunits, is crucial for type I immune responses.
Polymorphisms in the IL12RB2 gene, encoding IL-12Rβ2, have been linked to immune-related diseases like Crohn's disease.
Proximity of IL12RB2 to IL23R raises questions about the specific contribution of IL12RB2 polymorphisms to disease associations.

Purpose of the Study:

To investigate the functional impact of thirteen amino acid substitutions in the IL-12Rβ2 protein.
To clarify the specific role of IL-12Rβ2 in mediating immune responses and its potential contribution to immune-related diseases.

Main Methods:

Developed a B cell line model expressing variants of IL-12Rβ2 via retroviral vectors.
Compared the expression and function of thirteen IL-12Rβ2 variants against a wild-type control within a consistent genetic background.

Main Results:

Four IL-12Rβ2 variants (N271Y, R313G, A604V, L808R) exhibited significantly reduced IL-12 responses compared to the wild-type.
Two of these identified variants are relatively common in certain populations.

Conclusions:

Specific IL-12Rβ2 variants can impair IL-12 signaling pathways.
Common IL-12Rβ2 variants may serve as valuable markers in future genetic association studies for infectious and immune-related diseases.