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  • Blauw, Hylke M (author)

A large genome scan for rare CNVs in amyotrophic lateral sclerosis

  • Article/chapterEnglish2010

Publisher, publication year, extent ...

  • 2010-08-04
  • Oxford Journals,2010
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:umu-42185
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-42185URI
  • https://doi.org/10.1093/hmg/ddq323DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease selectively affecting motor neurons in the brain and spinal cord. Recent genome-wide association studies (GWASs) have identified several common variants which increase disease susceptibility. In contrast, rare copy-number variants (CNVs), which have been associated with several neuropsychiatric traits, have not been studied for ALS in well-powered study populations. To examine the role of rare CNVs in ALS susceptibility, we conducted a CNV association study including over 19,000 individuals. In a genome-wide screen of 1875 cases and 8731 controls, we did not find evidence for a difference in global CNV burden between cases and controls. In our association analyses, we identified two loci that met our criteria for follow-up: the DPP6 locus (OR = 3.59, P = 6.6 × 10(-3)), which has already been implicated in ALS pathogenesis, and the 15q11.2 locus, containing NIPA1 (OR = 12.46, P = 9.3 × 10(-5)), the gene causing hereditary spastic paraparesis type 6 (HSP 6). We tested these loci in a replication cohort of 2559 cases and 5887 controls. Again, results were suggestive of association, but did not meet our criteria for independent replication: DPP6 locus: OR = 1.92, P = 0.097, pooled results: OR = 2.64, P = 1.4 × 10(-3); NIPA1: OR = 3.23, P = 0.041, pooled results: OR = 6.20, P = 2.2 × 10(-5)). Our results highlight DPP6 and NIPA1 as candidates for more in-depth studies. Unlike other complex neurological and psychiatric traits, rare CNVs with high effect size do not play a major role in ALS pathogenesis.

Added entries (persons, corporate bodies, meetings, titles ...)

  • Al-Chalabi, Ammar (author)
  • Andersen, Peter MUmeå universitet,Neurologi(Swepub:umu)pean0001 (author)
  • van Vught, Paul W J (author)
  • Diekstra, Frank P (author)
  • van Es, Michael A (author)
  • Saris, Christiaan G J (author)
  • Groen, Ewout J N (author)
  • van Rheenen, Wouter (author)
  • Koppers, Max (author)
  • Van't Slot, Ruben (author)
  • Strengman, Eric (author)
  • Estrada, Karol (author)
  • Rivadeneira, Fernando (author)
  • Hofman, Albert (author)
  • Uitterlinden, Andre G (author)
  • Kiemeney, Lambertus A (author)
  • Vermeulen, Sita H M (author)
  • Birve, AnnaUmeå universitet,Neurologi(Swepub:umu)anbi0001 (author)
  • Waibel, Stefan (author)
  • Meyer, Thomas (author)
  • Cronin, Simon (author)
  • McLaughlin, Russell L (author)
  • Hardiman, Orla (author)
  • Sapp, Peter C (author)
  • Tobin, Martin D (author)
  • Wain, Louise V (author)
  • Tomik, Barbara (author)
  • Slowik, Agnieszka (author)
  • Lemmens, Robin (author)
  • Rujescu, Dan (author)
  • Schulte, Claudia (author)
  • Gasser, Thomas (author)
  • Brown, Robert H (author)
  • Landers, John E (author)
  • Robberecht, Wim (author)
  • Ludolph, Albert C (author)
  • Ophoff, Roel A (author)
  • Veldink, Jan H (author)
  • van den Berg, Leonard H (author)
  • Umeå universitetNeurologi (creator_code:org_t)

Related titles

  • In:Human Molecular Genetics: Oxford Journals19:20, s. 4091-40990964-69061460-2083

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