About: Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis

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About: Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

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type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
title	Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis
Creator	Galimberti, Daniela Scarpini, Elio Cagliani, Rachele Clerici, Mario Forni, Diego Pozzoli, Uberto Sironi, Manuela Bresolin, Nereo Fumagalli, Matteo Comi, Giacomo Asselta, Rosanna Paraboschi, Elvezia Biasin, Mara Agliardi, Cristina Caputo, Domenico Guerini, Franca Riva, Stefania
source	PMC
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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s00439-011-1053-2) contains supplementary material, which is available to authorized users.
has issue date	2011-07-07(xsd:dateTime)
bibo:doi	10.1007/s00439-011-1053-2
bibo:pmid	21735172
has license	no-cc
sha1sum (hex)	5d74ae60b6662009a561d3842728ef7613f6bf38
schema:url	https://doi.org/10.1007/s00439-011-1053-2
resource representing a document's title	Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis
has PubMed Central identifier	PMC7088416
has PubMed identifier	21735172
schema:publication	Hum Genet
resource representing a document's body	covid:5d74ae60b6662009a561d3842728ef7613f6bf38#body_text
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