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

doi:10.1007/s00439-011-1053-2

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Article

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

Human genetics - 1 Jan 2012

Cagliani Rachele, Fumagalli Matteo, Guerini Franca R, Riva Stefania, Galimberti Daniela, Comi Giacomo P, Agliardi Cristina, Scarpini Elio, Pozzoli Uberto, Forni Diego, Caputo Domenico, Asselta Rosanna, Biasin Mara, Paraboschi Elvezia M, Bresolin Nereo, Clerici Mario, Sironi Manuela

Abstract excerpt

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...

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PMID: 21735172
DOI: 10.1007/s00439-011-1053-2
PMCID: PMC7088416

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OAS1

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