No association of CpG SNP rs9357140 with onset age in Belgian C9orf72 repeat expansion carriers

We investigated the impact of the recently described chromosome 6 open reading frame 10 (C6orf10)/LOC101929163 locus as age-at-onset modifier in an extended cohort of Belgian chromosome 9 open reading frame 72 (C9orf72) G4C2 repeat expansion carriers. We genotyped the tagging CpG single-nucleotide polymorphism rs9357140 in 224 confirmed C9orf72 repeat expansion carriers, 102 index cases and 122 relatives, and tested association with onset age. The C9orf72 repeat expansion cohort consisted of 131 symptomatic carriers, that is, 78 with dementia only, 13 with frontotemporal dementia (FTD)-amyotro... Mehr ...

Verfasser: Koçoğlu, Cemile
Gossye, Helena
Dillen, Lubina
Van Mossevelde, Sara
De Bleecker, Jan
Vandenberghe, Rik
De Deyn, Peter P.
Sleegers, Kristel
Cras, Patrick
Engelborghs, Sebastiaan
Van Broeckhoven, Christine
van der Zee, Julie
Dokumenttyp: journalarticle
Erscheinungsdatum: 2021
Schlagwörter: Medicine and Health Sciences / Developmental Biology / Ageing / General Neuroscience / Geriatrics and Gerontology / Clinical Neurology / Frontotemporal dementia / FTD / Amyotrophic lateral sclerosis / ALS / C9orf72 / Modifier / DISEASE / TMEM106B
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-26529143
Datenquelle: BASE; Originalkatalog
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Link(s) : https://biblio.ugent.be/publication/8695289