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

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 de

SUBMITTER: Cagliani R 

PROVIDER: S-EPMC7088416 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature