ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study.

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Search: (WFRF:(van Es Michael A.)) pers:(Andersen Peter M.) > (2007-2009) > ITPR2 as a suscepti...

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Fältnamn	Indikatorer	Metadata
000		03422naa a2200505 4500
001		oai:DiVA.org:umu-25726
003		SwePub
008		090901s2007 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-257262 URI
024	7	a https://doi.org/10.1016/S1474-4422(07)70222-32 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 van Es, Michael A4 aut
245	1 0	a ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis :b a genome-wide association study.
264	1	c 2007
338		a print2 rdacarrier
520		a BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a devastating disease characterised by progressive degeneration of motor neurons in the brain and spinal cord. ALS is thought to be multifactorial, with both environmental and genetic causes. Our aim was to identify genetic variants that predispose for sporadic ALS. METHODS: We did a three-stage genome-wide association study in 461 patients with ALS and 450 controls from The Netherlands, using Illumina 300K single-nucleotide polymorphism (SNP) chips. The SNPs that were most strongly associated with ALS were analysed in a further 876 patients and 906 controls in independent sample series from The Netherlands, Belgium, and Sweden. We also investigated the possible pathological functions of associated genes using expression data from whole blood of patients with sporadic ALS and of control individuals who were included in the genome-wide association study. FINDINGS: A genetic variant in the inositol 1,4,5-triphosphate receptor 2 gene (ITPR2) was associated with ALS (p=0.012 after Bonferroni correction). Combined analysis of all samples (1337 patients and 1356 controls) confirmed this association (p=3.28x10(-6), odds ratio 1.58, 95% CI 1.30-1.91). ITPR2 expression was greater in the peripheral blood of 126 ALS patients than in that of 126 healthy controls (p=0.00016). INTERPRETATION: Genetic variation in ITPR2 is a susceptibility factor for ALS. ITPR2 is a strong candidate susceptibility gene for ALS because it is involved in glutamate-mediated neurotransmission, is one of the main regulators of intracellular calcium concentrations, and has an important role in apoptosis.
700	1	a Van Vught, Paul W4 aut
700	1	a Blauw, Hylke M4 aut
700	1	a Franke, Lude4 aut
700	1	a Saris, Christiaan G4 aut
700	1	a Andersen, Peter Mu Umeå universitet,Neurologi4 aut
700	1	a Van Den Bosch, Ludo4 aut
700	1	a de Jong, Sonja W4 aut
700	1	a van 't Slot, Ruben4 aut
700	1	a Birve, Anna4 aut
700	1	a Lemmens, Robin4 aut
700	1	a de Jong, Vianney4 aut
700	1	a Baas, Frank4 aut
700	1	a Schelhaas, Helenius J4 aut
700	1	a Sleegers, Kristel4 aut
700	1	a Van Broeckhoven, Christine4 aut
700	1	a Wokke, John H J4 aut
700	1	a Wijmenga, Cisca4 aut
700	1	a Robberecht, Wim4 aut
700	1	a Veldink, Jan H4 aut
700	1	a Ophoff, Roel A4 aut
700	1	a van den Berg, Leonard H4 aut
710	2	a Umeå universitetb Neurologi4 org
773	0	t Lancet Neurologyg 6:10, s. 869-77q 6:10<869-77x 1474-4422x 1474-4465
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-25726
856	4 8	u https://doi.org/10.1016/S1474-4422(07)70222-3

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