Association of CHI3L1 rs871799 Genotypes in Human MS Patients
In a study of 240 individuals (123 MS patients and 117 healthy controls), CHI3L1 rs871799 was significantly associated with MS susceptibility, with the CG + GG genotypes more frequent in MS patients. Differences in genotype distributions were found between relapse-remitting MS (RRMS) and progressive forms of MS, suggesting a correlation with clinical phenotype and neurological disability.
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Why it matters
These findings suggest that genetic factors like CHI3L1 rs871799 could play a role in MS, potentially aiding in understanding its various forms and their impact on patient disability.
What this does not prove
The results are exploratory and must be interpreted with caution due to a small number of progressive MS patients and the combination of SPMS and PPMS in the analysis. Additionally, a cross-sectional assessment limits insight into the progression of disability over time.
Next milestone
No next milestone was established from the available source.
Study facts
- Study design
- Observational
- Participants / samples
- 240 · 123 MS patients and 117 healthy controls
- Randomised
- No
- Controlled
- Not applicable
- Primary endpoint met
- Yes
- Relevant MS type
- RRMS, SPMS, PPMS
- Publication date
- 2026-10-07
- Evidence reviewed
- Abstract only
- Regulatory approval
- Not reported
- Research areas
- Other
Original sources
- Primary evidenceAssociation between CHI3L1 and CRTH2 genetic variants, clinical phenotype, and neurological disability in multiple sclerosis. ↗DOI: 10.1007/s13760-026-03214-6
Supporting passages (16)
sample size123 MS patients and 117 healthy controls.
subjectsWe included 123 MS patients and 117 healthy controls.
study phaseThese findings are exploratory and should be interpreted cautiously, particularly given the limited number of PPMS patients, the combined analysis of SPMS and PPMS, and the cross-sectional assessment of disability.
study designWe included 123 MS patients and 117 healthy controls.
sample size basis123 MS patients and 117 healthy controls.
randomizedNo significant associations were observed for rs10399805 or rs533116 in the overall analysis or in the clinical subgroup comparisons.
controlledNo significant associations were observed for rs10399805 or rs533116 in the overall analysis or in the clinical subgroup comparisons.
peer reviewedJournal: Acta neurologica Belgica
primary endpoint metRESULTS: CHI3L1 rs871799 showed a significant association with MS under the dominant model, with the CG + GG genotypes being more frequent in patients than in controls.
research categoriesThese findings are exploratory and should be interpreted cautiously, particularly given the limited number of PPMS patients, the combined analysis of SPMS and PPMS, and the cross-sectional assessment of disability.
relevant ms typesWe included 123 MS patients and 117 healthy controls.
publication datePublication date: 2026-10-07
comparatorRESULTS: CHI3L1 rs871799 showed a significant association with MS under the dominant model, with the CG + GG genotypes being more frequent in patients than in controls.
primary endpointCONCLUSIONS: CHI3L1 rs871799 may be associated with MS susceptibility under the dominant model, clinical phenotype, and cross-sectional neurological disability.
findingsThese findings are exploratory and should be interpreted cautiously, particularly given the limited number of PPMS patients, the combined analysis of SPMS and PPMS, and the cross-sectional assessment of disability.
limitationsThese findings are exploratory and should be interpreted cautiously, particularly given the limited number of PPMS patients, the combined analysis of SPMS and PPMS, and the cross-sectional assessment of disability.
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