{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T20:46:24Z","timestamp":1781297184662,"version":"3.54.1"},"reference-count":19,"publisher":"SAGE Publications","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAD"],"published-print":{"date-parts":[[2021,9,28]]},"abstract":"<jats:p>Background: C9orf72 repeat expansion (C9exp) is the most common genetic cause underlying frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). However, detection of the C9exp requires elaborative methods. Objective: Identification of C9exp carriers from genotyped cohorts could be facilitated by using single nucleotide polymorphisms (SNPs) as markers for the C9exp. Methods: We elucidated the potential of the previously described Finnish risk haplotype, defined by the SNP rs3849942, to identify potential C9exp carriers among 218,792 Finns using the FinnGen database. The haplotype approach was first tested in an idiopathic normal pressure hydrocephalus (iNPH) patient cohort (European Alzheimer\u2019s Disease DNA BioBank) containing C9exp carriers by comparing intermediate (15\u201330) and full-length (&gt;\u200a60 repeats) C9exp carriers (n\u200a=\u200a41) to C9exp negative patients (&lt;\u200a15 repeats, n\u200a=\u200a801). Results: In this analysis, rs3849942 was associated with carriership of C9exp (OR 8.44, p\u200a&lt;\u200a2\u00d710\u201315), while the strongest association was found with rs139185008 (OR 39.4, p\u200a&lt;\u200a5\u00d710\u201318). Unbiased analysis of rs139185008 in FinnGen showed the strongest association with FTLD (OR 4.38, 3\u00d710\u201315) and motor neuron disease ALS (OR 5.19, 3\u00d710\u201321). rs139185008 was the top SNP in all diseases (iNPH, FTLD, ALS), and further showed a strong association with ALS in the UK Biobank (p\u200a=\u200a9.0\u00d710\u20138). Conclusion: Our findings suggest that rs139185008 is a useful marker to identify potential C9exp carriers in the genotyped cohorts and biobanks originating from Finland.<\/jats:p>","DOI":"10.3233\/jad-210599","type":"journal-article","created":{"date-parts":[[2021,8,13]],"date-time":"2021-08-13T13:48:36Z","timestamp":1628862516000},"page":"1325-1332","source":"Crossref","is-referenced-by-count":11,"title":["A Novel Genetic Marker for the C9orf72 Repeat Expansion in the Finnish Population"],"prefix":"10.1177","volume":"83","author":[{"given":"Hannah","family":"Rostalski","sequence":"first","affiliation":[{"name":"A. I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ville","family":"Korhonen","sequence":"additional","affiliation":[{"name":"Neurocenter, Neurosurgery, Kuopio University Hospital and University of Eastern Finland, Kuopio, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teemu","family":"Kuulasmaa","sequence":"additional","affiliation":[{"name":"Institute of Biomedicine, University of Eastern Finland, Kuopio, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eino","family":"Solje","sequence":"additional","affiliation":[{"name":"Institute of Clinical Medicine - Neurology, University of Eastern Finland"},{"name":"Neuro Center, Neurology, Kuopio University Hospital, Kuopio, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Kr\u00fcger","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland"},{"name":"Medical Research Center (MRC), Oulu University Hospital, Oulu, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Finn","family":"Gen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Helsinki University Hospital and Translational Immunology Program, Biomedicum, University of Helsinki, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karri","family":"Kaivola","sequence":"additional","affiliation":[{"name":"Department of Neurology, Helsinki University Hospital and Translational Immunology Program, Biomedicum, University of Helsinki, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Per Kristian","family":"Eide","sequence":"additional","affiliation":[{"name":"Oslo University Hospital-Rikshospitalet; and Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Charles","family":"Lambert","sequence":"additional","affiliation":[{"name":"Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et d\u00e9terminants mol\u00e9culaires des maladies li\u00e9s au vieillissement, Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valtteri","family":"Julkunen","sequence":"additional","affiliation":[{"name":"Institute of Clinical Medicine - Neurology, University of Eastern Finland"},{"name":"Neuro Center, Neurology, Kuopio University Hospital, Kuopio, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pentti J.","family":"Tienari","sequence":"additional","affiliation":[{"name":"Department of Neurology, Helsinki University Hospital and Translational Immunology Program, Biomedicum, University of Helsinki, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne M.","family":"Remes","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland"},{"name":"Medical Research Center (MRC), Oulu University Hospital, Oulu, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ville","family":"Leinonen","sequence":"additional","affiliation":[{"name":"Neurocenter, Neurosurgery, Kuopio University Hospital and University of Eastern Finland, Kuopio, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikko","family":"Hiltunen","sequence":"additional","affiliation":[{"name":"Institute of Biomedicine, University of Eastern Finland, Kuopio, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annakaisa","family":"Haapasalo","sequence":"additional","affiliation":[{"name":"A. 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