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The autoimmune disease-associated IL12B and IL23R polymorphisms in multiple sclerosis
Ann B Begovich1, Monica Chang, Stacy J Caillier
1Celera, Alameda, CA, USA.
Human Immunology
|December 18, 2007
Summary
Genetic variations in IL12B and IL23R are linked to other autoimmune diseases. This study found no evidence that these specific gene polymorphisms contribute to multiple sclerosis (MS) susceptibility in families.
Area of Science:
- Immunogenetics
- Neuroimmunology
- Autoimmune Diseases
Background:
- Interleukin-12 (IL-12) and Interleukin-23 (IL-23) are key cytokines in immune regulation.
- Polymorphisms in IL12B and IL23R genes are associated with psoriasis, inflammatory bowel disease, and ankylosing spondylitis.
- The IL-12/IL-23 pathway is implicated in the immunopathogenesis of multiple sclerosis (MS).
Purpose of the Study:
- To investigate the potential role of IL12B and IL23R polymorphisms in MS susceptibility.
- To determine if genetic variations in these genes are transmitted differentially in MS-affected families.
Main Methods:
- Genotyping of IL12B and IL23R polymorphisms in 910 MS-nuclear families (3132 individuals).
- Family-based association analysis to assess allele transmission patterns.
Main Results:
- No significant evidence of transmission distortion for the tested IL12B and IL23R alleles was observed.
- The studied polymorphisms in IL12B and IL23R do not appear to be major determinants of MS susceptibility in this cohort.
Conclusions:
- The findings do not support a significant role for the investigated IL12B/IL23R polymorphisms in the genetic susceptibility to multiple sclerosis.
- Further research may be needed to explore other genetic or environmental factors contributing to MS pathogenesis.
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