Ontology highlight
ABSTRACT:
SUBMITTER: Cagliani R
PROVIDER: S-EPMC7088416 | biostudies-literature | 2012 Jan
REPOSITORIES: biostudies-literature
Cagliani Rachele R Fumagalli Matteo M Guerini Franca R FR Riva Stefania S Galimberti Daniela D Comi Giacomo P GP Agliardi Cristina C Scarpini Elio E Pozzoli Uberto U Forni Diego D Caputo Domenico D Asselta Rosanna R Biasin Mara M Paraboschi Elvezia M EM Bresolin Nereo N Clerici Mario M Sironi Manuela M
Human genetics 20110707 1
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 pre ...[more]