ArticleMultiple sclerosis (Houndmills, Basingstoke, England)2025
Genomewide association study of a homogeneous multiple sclerosis cohort: Tumefactive demyelination.
Article in Multiple sclerosis (Houndmills, Basingstoke, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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Who cites it
2 citing papers in PubMed.
- Tumefactive demyelinating disorders as neoplasm mimics: description of a typical case and literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Novel Potential Risk Loci for Migraine in the Portuguese Population.International journal of molecular sciences · 2026Article
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11 authors.
Funding
Abstract
backgroundTumefactive demyelination (TD) is a rare variant of multiple sclerosis (MS) characterized by tumor-like lesions that often require aggressive management. Genome-wide association studies (GWAS) identified variants associated with MS; similar analyses in TD are lacking.
objectiveA GWAS was performed to identify variants associated with TD.
methodsThe case-control study included 142 TD cases and 293 controls. TD patients were required to have a demyelinating event and magnetic resonance imaging (MRI) showing one or more lesions. Controls were patients without a neurologic or systemic inflammatory disease or cancer. Logistic regression was used to compare cases versus controls for each variant; age, sex, and principal components were included as covariates. A
resultsVariants on chromosome 14 (rs117797734,
conclusionWe identified novel regions associated with TD, demonstrating the importance of performing GWAS in homogeneous subtypes of MS. Further validation and functional experiments are necessary.
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