SynthesisAnnals of neurology2011
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
Synthesis in Annals of neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 199 papers, 8 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
199 citing papers in PubMed, 8 syntheses or guidelines pooled it, 349 citations in OpenAlex.
- A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility.Journal of neurology · 2022Pooled it
- Receptor-interacting protein kinase 1 (RIPK1) as a therapeutic target.Nature reviews. Drug discovery · 2020Pooled it
- Meta-Analysis of Differential Connectivity in Gene Co-Expression Networks in Multiple Sclerosis.International journal of molecular sciences · 2016Pooled it
- Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes.International journal of molecular sciences · 2015Pooled it
- C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.Annals of neurology · 2014Pooled it
- No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.Human molecular genetics · 2014Pooled it
- Network-based multiple sclerosis pathway analysis with GWAS data from 15,000 cases and 30,000 controls.American journal of human genetics · 2013Pooled it
- Pooled it
- Positive association of vitamin D receptor gene variations with multiple sclerosis in South East Iranian population.BioMed research international · 2015Trial
- Proteomic profiling in multiple sclerosis clinical courses reveals potential biomarkers of neurodegeneration.PloS one · 2014Trial
- Genetic Risk in Multiple Sclerosis: Susceptibility, Modifiers and Unresolved Questions.Neurology and therapy · 2026Review
- Genome-wide association analyses highlight the neuronal contribution to multiple sclerosis susceptibility.Nature genetics · 2026Article
- A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies.Annals of clinical and translational neurology · 2026Observational
- Sex-Related Differences in Circular RNA Expression in Multiple Sclerosis: A Pilot Study.Journal of molecular neuroscience : MN · 2026Article
- Evaluation of potential serum biomarkers for individuals at risk of multiple sclerosis.bioRxiv : the preprint server for biology · 2026Article
- The Potential of β-Synuclein-Specific Regulatory T Cell Therapy as a Treatment for Progressive Multiple Sclerosis.International journal of molecular sciences · 2025Review
- The geographic association of multiple sclerosis and amyotrophic lateral sclerosis.Scientific reports · 2025Article
- MiR-124 and MiR-155 as Therapeutic Targets in Microglia-Mediated Inflammation in Multiple Sclerosis.Cellular and molecular neurobiology · 2025Review
- Structural insights into tRNA recognition of the human FTSJ1-THADA complex.Communications biology · 2025Article
- Selected Aspects of the Neuroimmunology of Cell Therapies for Neurologic Disease: Perspective.Neurology(R) neuroimmunology & neuroinflammation · 2025Review
139 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
77 authors at 2 institutions in 2 countries.
Funding
Abstract
objectiveTo perform a 1-stage meta-analysis of genome-wide association studies (GWAS) of multiple sclerosis (MS) susceptibility and to explore functional consequences of new susceptibility loci.
methodsWe synthesized 7 MS GWAS. Each data set was imputed using HapMap phase II, and a per single nucleotide polymorphism (SNP) meta-analysis was performed across the 7 data sets. We explored RNA expression data using a quantitative trait analysis in peripheral blood mononuclear cells (PBMCs) of 228 subjects with demyelinating disease.
resultsWe meta-analyzed 2,529,394 unique SNPs in 5,545 cases and 12,153 controls. We identified 3 novel susceptibility alleles: rs170934(T) at 3p24.1 (odds ratio [OR], 1.17; p = 1.6 × 10(-8)) near EOMES, rs2150702(G) in the second intron of MLANA on chromosome 9p24.1 (OR, 1.16; p = 3.3 × 10(-8)), and rs6718520(A) in an intergenic region on chromosome 2p21, with THADA as the nearest flanking gene (OR, 1.17; p = 3.4 × 10(-8)). The 3 new loci do not have a strong cis effect on RNA expression in PBMCs. Ten other susceptibility loci had a suggestive p < 1 × 10(-6) , some of these loci have evidence of association in other inflammatory diseases (ie, IL12B, TAGAP, PLEK, and ZMIZ1).
interpretationWe have performed a meta-analysis of GWAS in MS that more than doubles the size of previous gene discovery efforts and highlights 3 novel MS susceptibility loci. These and additional loci with suggestive evidence of association are excellent candidates for further investigations to refine and validate their role in the genetic architecture of MS.
Indexed as
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.