ArticleScientific reports2022
Investigating the role of common and rare variants in multiplex multiple sclerosis families reveals an increased burden of common risk variation.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 13 citations in OpenAlex.
- Genetic Risk, Self-Harm, and Violence in Schizophrenia: A Narrative Review of Implications for Early Identification and Intervention.Clinical neuropsychiatry · 2025Review
- Article
- Increased burden of rare variants in GWAS associated genes in familial multiple sclerosis.Scientific reports · 2025Article
- Exome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families.Scientific reports · 2025Article
- A mendelian randomization analysis of the associations between haptoglobin and multiple sclerosis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Computational Analysis of S1PR1 SNPs Reveals Drug Binding Modes Relevant to Multiple Sclerosis Treatment.Pharmaceutics · 2024Article
- The role of parental consanguinity and familial aggregation in development of multiple sclerosis: a case-control study.European journal of medical research · 2024Article
- Consanguineous marriage among familial multiple sclerosis subjects: A national registry-based study.Heliyon · 2024Article
- Multiple Sclerosis Polygenic Risk Is Not Enriched in Three Multicase Families in Comparison to Population-Based Cases.Human mutation · 2024Article
- A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility.Genes · 2022Article
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Authors and funding
12 authors at 6 institutions in 2 countries.
Funding
Abstract
Many multiple sclerosis (MS)-associated common risk variants as well as candidate low-frequency and rare variants have been identified; however, approximately half of MS heritability remains unexplained. We studied seven multiplex MS families, six of which with parental consanguinity, to identify genetic factors that increase MS risk. Candidate genomic regions were identified through linkage analysis and homozygosity mapping, and fully penetrant, rare, and low-frequency variants were detected by exome sequencing. Weighted sum score and polygenic risk score (PRS) analyses were conducted in MS families (24 affected, 17 unaffected), 23 sporadic MS cases, 63 individuals in 19 non-MS control families, and 1272 independent, ancestry-matched controls. We found that familial MS cases had a significantly higher common risk variation burden compared with population controls and control families. Sporadic MS cases tended to have a higher PRS compared with familial MS cases, suggesting the presence of a higher rare risk variation burden in the families. In line with this, score distributions among affected and unaffected family members within individual families showed that known susceptibility alleles can explain disease development in some high-risk multiplex families, while in others, additional genetic contributors increase MS risk.
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