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dc.contributor.authorWesterlind, Helgaen_US
dc.contributor.authorImrell, Kerstinen_US
dc.contributor.authorRamanujam, Ryanen_US
dc.contributor.authorMyhr, Kjell-Mortenen_US
dc.contributor.authorCelius, Elisabeth Gulowsenen_US
dc.contributor.authorHarbo, Hanne Flinstaden_US
dc.contributor.authorOturai, Annette Bangen_US
dc.contributor.authorHamsten, Andersen_US
dc.contributor.authorAlfredsson, Larsen_US
dc.contributor.authorOlsson, Tomasen_US
dc.contributor.authorKockum, Ingriden_US
dc.contributor.authorKoski, Timoen_US
dc.contributor.authorHillert, Janen_US
dc.description.abstractIn an attempt to map chromosomal regions carrying rare gene variants contributing to the risk of multiple sclerosis (MS), we identified segments shared identical-by-descent (IBD) using the software BEAGLE 4.0’s refined IBD analysis. IBD mapping aims at identifying segments inherited from a common ancestor and shared more frequently in case–case pairs. A total of 2106 MS patients of Nordic origin and 624 matched controls were genotyped on Illumina Human Quad 660 chip and an additional 1352 ethnically matched controls typed on Illumina HumanHap 550 and Illumina 1M were added. The quality control left a total of 441 731 markers for the analysis. After identification of segments shared by descent and significance testing, a filter function for markers with low IBD sharing was applied. Four regions on chromosomes 5, 9, 14 and 19 were found to be significantly associated with the risk for MS. However, all markers but for one were located telomerically, including the very distal markers. For methodological reasons, such segments have a low sharing of IBD signals and are prone to be false positives. One marker on chromosome 19 reached genome-wide significance and was not one of the distal markers. This marker was located within the GNA11 gene, which contains no previous association with MS. We conclude that IBD mapping is not sufficiently powered to identify MS risk loci even in ethnically relatively homogenous populations, or that alternatively rare variants are not adequately present.en_US
dc.publisherNature Publishing Groupeng
dc.rightsAttribution CC BYeng
dc.titleIdentity-by-descent mapping in a Scandinavian multiple sclerosis cohorten_US
dc.typePeer reviewed
dc.typeJournal article
dc.source.journalEuropean Journal of Human Genetics
dc.subject.nsiVDP::Medical sciences: 700::Basic medical, dental and veterinary sciences: 710::Medical genetics: 714eng
dc.subject.nsiVDP::Medical sciences: 700::Clinical medical sciences: 750::Neurology: 752eng
dc.subject.nsiVDP::Medisinske fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk genetikk: 714nob
dc.subject.nsiVDP::Medisinske fag: 700::Klinisk medisinske fag: 750::Nevrologi: 752nob

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