ArticleHuman genetics2012
Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis.
Article in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Pan-cancer analysis identified OAS1 as a potential prognostic biomarker for multiple tumor types.Frontiers in oncology · 2023Article
- A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene.Brain : a journal of neurology · 2021Article
- Type I Interferon and the Spectrum of Susceptibility to Viral Infection and Autoimmune Disease: A Shared Genomic Signature.Frontiers in immunology · 2021Review
- Article
- Neurodegenerative Diseases: Regenerative Mechanisms and Novel Therapeutic Approaches.Brain sciences · 2018Review
- Molecular Cloning and Identification of the 2'-5' Oligoadenylate Synthetase 2 Gene in Chinese Domestic Pigs Through Bioinformatics Analysis, and Determination of Its Antiviral Activity Against Porcine Reproductive and Respiratory Syndrome Virus Infection.Indian journal of microbiology · 2018Article
- A functional variant in the OAS1 gene is associated with Sjögren's syndrome complicated with HBV infection.Scientific reports · 2017Article
- Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons.PLoS genetics · 2017Article
- The hematopoietic regulator, ELF-1, enhances the transcriptional response to Interferon-β of the OAS1 anti-viral gene.Scientific reports · 2015Article
- Variation in the Ovine Abomasal Lymph Node Transcriptome between Breeds Known to Differ in Resistance to the Gastrointestinal Nematode.PloS one · 2015Article
- Mitochondrial localization of the OAS1 p46 isoform associated with a common single nucleotide polymorphism.BMC cell biology · 2014Article
- Sex-specific control of central nervous system autoimmunity by p38 mitogen-activated protein kinase signaling in myeloid cells.Annals of neurology · 2014Article
- Interferon-beta therapy in multiple sclerosis: the short-term and long-term effects on the patients' individual gene expression in peripheral blood.Molecular neurobiology · 2013Article
- Differential effects of a common splice site polymorphism on the generation of OAS1 variants in human bronchial epithelial cells.Human immunology · 2013Article
- A trans-specific polymorphism in ZC3HAV1 is maintained by long-standing balancing selection and may confer susceptibility to multiple sclerosis.Molecular biology and evolution · 2012Article
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Authors and funding
17 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Contrasting results have been reported concerning the association of a splice-site polymorphism (rs10774671) in OAS1 with multiple sclerosis (MS). We analysed two OAS1 regions encompassing alternatively spliced exons. While the region carrying the splice-site variant is neutrally evolving, a signature of long-standing balancing selection was observed across an alternative exon 7. Analysis of variants in this exon identified an insertion/deletion polymorphism (rs11352835, A/-) that originates predicted products with distinct C termini. This variant is located along the major branch of the haplotype genealogy, suggesting that it may represent the selection target. A case/control study for MS indicated that rs11352835 is associated with disease susceptibility (for an allelic model with the deleted allele predisposing to MS, OR 1.27, 95% CI 1.072-1.513, p = 0.010). No association was found between rs10774671 and MS. As the two SNPs are in linkage disequilibrium in Europeans, the previously reported association between rs10774671 and MS susceptibility might be driven by rs11352835, possibly explaining the contrasting results previously observed for the splice-site polymorphism. Thus, we describe a novel susceptibility variant for MS in OAS1 and show that population genetic analyses can be instrumental to the identification of selection targets and, consequently, of functional polymorphisms with an effect on phenotypic traits.
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