A large genome scan for rare CNVs in amyotrophic lateral sclerosis

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Fältnamn	Indikatorer	Metadata
000		04228naa a2200745 4500
001		oai:DiVA.org:umu-42185
003		SwePub
008		110406s2010 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-421852 URI
024	7	a https://doi.org/10.1093/hmg/ddq3232 DOI
040		a (SwePub)umu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Blauw, Hylke M4 aut
245	1 0	a A large genome scan for rare CNVs in amyotrophic lateral sclerosis
264		c 2010-08-04
264	1	b Oxford Journals,c 2010
338		a print2 rdacarrier
520		a 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.
700	1	a Al-Chalabi, Ammar4 aut
700	1	a Andersen, Peter Mu Umeå universitet,Neurologi4 aut0 (Swepub:umu)pean0001
700	1	a van Vught, Paul W J4 aut
700	1	a Diekstra, Frank P4 aut
700	1	a van Es, Michael A4 aut
700	1	a Saris, Christiaan G J4 aut
700	1	a Groen, Ewout J N4 aut
700	1	a van Rheenen, Wouter4 aut
700	1	a Koppers, Max4 aut
700	1	a Van't Slot, Ruben4 aut
700	1	a Strengman, Eric4 aut
700	1	a Estrada, Karol4 aut
700	1	a Rivadeneira, Fernando4 aut
700	1	a Hofman, Albert4 aut
700	1	a Uitterlinden, Andre G4 aut
700	1	a Kiemeney, Lambertus A4 aut
700	1	a Vermeulen, Sita H M4 aut
700	1	a Birve, Annau Umeå universitet,Neurologi4 aut0 (Swepub:umu)anbi0001
700	1	a Waibel, Stefan4 aut
700	1	a Meyer, Thomas4 aut
700	1	a Cronin, Simon4 aut
700	1	a McLaughlin, Russell L4 aut
700	1	a Hardiman, Orla4 aut
700	1	a Sapp, Peter C4 aut
700	1	a Tobin, Martin D4 aut
700	1	a Wain, Louise V4 aut
700	1	a Tomik, Barbara4 aut
700	1	a Slowik, Agnieszka4 aut
700	1	a Lemmens, Robin4 aut
700	1	a Rujescu, Dan4 aut
700	1	a Schulte, Claudia4 aut
700	1	a Gasser, Thomas4 aut
700	1	a Brown, Robert H4 aut
700	1	a Landers, John E4 aut
700	1	a Robberecht, Wim4 aut
700	1	a Ludolph, Albert C4 aut
700	1	a Ophoff, Roel A4 aut
700	1	a Veldink, Jan H4 aut
700	1	a van den Berg, Leonard H4 aut
710	2	a Umeå universitetb Neurologi4 org
773	0	t Human Molecular Geneticsd : Oxford Journalsg 19:20, s. 4091-4099q 19:20<4091-4099x 0964-6906x 1460-2083
856	4	u https://academic.oup.com/hmg/article-pdf/19/20/4091/13911322/ddq323.pdf
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-42185
856	4 8	u https://doi.org/10.1093/hmg/ddq323

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