ArticleMolecular biology reports2013
Genome-wide pathway analysis of a genome-wide association study on multiple sclerosis.
Article in Molecular biology reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Association between VDR polymorphisms and multiple sclerosis: systematic review and updated meta-analysis of case-control studies.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2018Pooled it
- Identifying a Common Autoimmune Gene Core as a Tool for Verifying Biological Significance and Applicability of Polygenic Risk Scores.International journal of molecular sciences · 2026Article
- The Human GP130 Cytokine Receptor and Its Expression-an Atlas and Functional Taxonomy of Genetic Variants.Journal of clinical immunology · 2023Review
- Genetic variations in theExperimental and therapeutic medicine · 2021Article
- A splice acceptor variant in HLA-DRA affects the conformation and cellular localization of the class II DR alpha-chain.Immunology · 2021Article
- Precision medicine for rheumatologists: lessons from the pharmacogenomics of azathioprine.Clinical rheumatology · 2021Review
- Multi-Level Analyses of Genome-Wide Association Study to Reveal Significant Risk Genes and Pathways in Neuromyelitis Optica Spectrum Disorder.Frontiers in genetics · 2021Article
- Combining clinical and candidate gene data into a risk score for azathioprine-associated leukopenia in routine clinical practice.The pharmacogenomics journal · 2020Article
- An Intergenic rs9275596 Polymorphism on Chr. 6p21 Is Associated with Multiple Sclerosis in Latvians.Medicina (Kaunas, Lithuania) · 2020Article
- Demyelination induces transport of ribosome-containing vesicles from glia to axons: evidence from animal models and MS patient brains.Molecular biology reports · 2016Article
- Genome-wide association studies in neurology.Annals of translational medicine · 2014Review
- A network-based kernel machine test for the identification of risk pathways in genome-wide association studies.Human heredity · 2013Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aims of this study were to identify candidate single nucleotide polymorphisms (SNPs) and mechanisms of multiple sclerosis (MS) and to generate SNP to gene to pathway hypotheses. A MS genome-wide association study (GWAS) dataset that included 505,763 SNPs in 500 cases and 500 controls of European descent was used in this study. Identify candidate Causal SNPs and Pathway (ICSNPathway) analysis was applied to the GWAS dataset. ICSNPathway analysis identified 9 candidate SNPs and 5 pathways, which provided 5 hypothetical biological mechanisms. The candidate SNPs, namely, rs1802127 (MSH5), rs9277471 (human leukocyte antigen [HLA]-DPB1), rs8084 (HLA-DRA), rs7192 (HLA-DRA), rs2072895 (HLA-F), rs2735059 (HLA-F), rs915669 (HLA-G), rs915668 (HLA-G), and rs1063320 (HLA-G) were all at HLA loci (-log10(P) = 3.301-4.000). The most strongly associated pathway was rs1802127 to MSH5 to meiotic recombination and meiotic cell cycle (nominal P < 0.001, false discovery rate [FDR] < 0.001). When HLA loci were excluded, ICSNPathway analysis identified seven candidate non-HLA SNPs (rs5896 [F2], rs8181979 [SHC1], rs9297605 [TAF2], rs669 [A2 M], rs2228043 [IL6ST], rs1061622 [TNFRSF1B], rs1801516 [ATM]) and ten candidate causal pathways, which provided seven hypothetical biological mechanisms (nominal P ≤ 0.001, FDR ≤ 0.047). The most strongly associated pathway was SNP rs5896 to F2 to the transcriptional activation DNA-binding protein B from mRNA (nominal P < 0.001, FDR = 0.006). The application of ICSNPathway analysis to the MS GWAS dataset resulted in the identification of candidate SNPs, pathways, and biological mechanisms that might contribute to MS susceptibility.
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