Sökning: WFRF:(van Vught Paul W.) > (2007) > ITPR2 as a suscepti...
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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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