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Updated: May 17, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association of interleukin-1 gene polymorphisms with multiple sclerosis: a meta-analysis
Jian Huang1, Zi-Kang Xie, Rong-Bin Lu
1Department of Geriatrics and Gerontology, First Affiliated Hospital, Guangxi Medical University, Nanning, People's Republic of China.
Interleukin-1 (IL-1) gene variants are not linked to multiple sclerosis (MS) risk. However, the IL-1 receptor antagonist (IL-1ra) VNTR polymorphism may increase the risk of bout-onset MS.
Area of Science:
- Immunogenetics
- Neuroimmunology
- Genetic Epidemiology
Background:
- Interleukin-1 (IL-1) dysregulation is observed in multiple sclerosis (MS) patients.
- Previous research on IL-1 gene polymorphisms and MS risk has yielded conflicting results.
Purpose of the Study:
- To conduct a comprehensive meta-analysis evaluating the association between common IL-1 gene region polymorphisms and MS risk.
- To investigate potential associations with specific MS subtypes.
Main Methods:
- A meta-analysis of 16 case-control studies.
- Involved 3,482 MS cases and 3,528 controls.
- Examined polymorphisms: IL-1α -889, IL-1α +4,845, IL-1β -511, IL-1β +3,953, and IL-1ra VNTR.
Main Results:
- No significant association was found for IL-1α and IL-1β polymorphisms with overall MS risk.
- The IL-1ra VNTR polymorphism showed a 32% increased risk for bout-onset MS (relapsing-remitting and secondary progressive) in individuals with the 2 allele compared to LL homozygotes (OR=1.32, P=0.014).
Conclusions:
- Common variants in the IL-1 gene region are not generally associated with MS risk.
- The IL-1ra VNTR polymorphism may be a risk factor specifically for the bout-onset MS subtype.
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