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A large genome scan...
A large genome scan for rare CNVs in amyotrophic lateral sclerosis
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Blauw, Hylke M (author)
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Al-Chalabi, Ammar (author)
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- Andersen, Peter M (author)
- Umeå universitet,Neurologi
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van Vught, Paul W J (author)
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Diekstra, Frank P (author)
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van Es, Michael A (author)
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Saris, Christiaan G J (author)
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Groen, Ewout J N (author)
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van Rheenen, Wouter (author)
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Koppers, Max (author)
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Van't Slot, Ruben (author)
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Strengman, Eric (author)
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Estrada, Karol (author)
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Rivadeneira, Fernando (author)
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Hofman, Albert (author)
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Uitterlinden, Andre G (author)
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Kiemeney, Lambertus A (author)
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Vermeulen, Sita H M (author)
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- Birve, Anna (author)
- Umeå universitet,Neurologi
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Waibel, Stefan (author)
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Meyer, Thomas (author)
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Cronin, Simon (author)
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McLaughlin, Russell L (author)
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Hardiman, Orla (author)
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Sapp, Peter C (author)
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Tobin, Martin D (author)
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Wain, Louise V (author)
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Tomik, Barbara (author)
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Slowik, Agnieszka (author)
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Lemmens, Robin (author)
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Rujescu, Dan (author)
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Schulte, Claudia (author)
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Gasser, Thomas (author)
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Brown, Robert H (author)
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Landers, John E (author)
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Robberecht, Wim (author)
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Ludolph, Albert C (author)
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Ophoff, Roel A (author)
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Veldink, Jan H (author)
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van den Berg, Leonard H (author)
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(creator_code:org_t)
- 2010-08-04
- 2010
- English.
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In: Human Molecular Genetics. - : Oxford Journals. - 0964-6906 .- 1460-2083. ; 19:20, s. 4091-4099
- Related links:
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https://academic.oup...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
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- 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.
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- By the author/editor
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Blauw, Hylke M
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Al-Chalabi, Amma ...
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Andersen, Peter ...
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van Vught, Paul ...
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Diekstra, Frank ...
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van Es, Michael ...
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show more...
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Saris, Christiaa ...
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Groen, Ewout J N
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van Rheenen, Wou ...
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Koppers, Max
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Van't Slot, Rube ...
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Strengman, Eric
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Estrada, Karol
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Rivadeneira, Fer ...
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Hofman, Albert
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Uitterlinden, An ...
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Kiemeney, Lamber ...
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Vermeulen, Sita ...
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Birve, Anna
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Waibel, Stefan
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Meyer, Thomas
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Cronin, Simon
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McLaughlin, Russ ...
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Hardiman, Orla
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Sapp, Peter C
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Tobin, Martin D
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Wain, Louise V
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Tomik, Barbara
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Slowik, Agnieszk ...
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Lemmens, Robin
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Rujescu, Dan
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Schulte, Claudia
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Gasser, Thomas
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Brown, Robert H
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Landers, John E
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Robberecht, Wim
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Ludolph, Albert ...
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Ophoff, Roel A
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Veldink, Jan H
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van den Berg, Le ...
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show less...
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Human Molecular ...
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Umeå University