The Effect of SMN Gene Dosage on ALS Risk and Disease Severity

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Fältnamn	Indikatorer	Metadata
000		04209naa a2200745 4500
001		oai:DiVA.org:umu-179430
003		SwePub
008		210204s2021 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1794302 URI
024	7	a https://doi.org/10.1002/ana.260092 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 Moisse, Matthieu4 aut
245	1 0	a The Effect of SMN Gene Dosage on ALS Risk and Disease Severity
264		c 2021-01-15
264	1	b John Wiley & Sons,c 2021
338		a electronic2 rdacarrier
520		a Objective: The role of the survival of motor neuron (SMN) gene in amyotrophic lateral sclerosis (ALS) is unclear, with several conflicting reports. A decisive result on this topic is needed, given that treatment options are available now for SMN deficiency.Methods: In this largest multicenter case control study to evaluate the effect of SMN1 and SMN2 copy numbers in ALS, we used whole genome sequencing data from Project MinE data freeze 2. SMN copy numbers of 6,375 patients with ALS and 2,412 controls were called from whole genome sequencing data, and the reliability of the calls was tested with multiplex ligation-dependent probe amplification data.Results: The copy number distribution of SMN1 and SMN2 between cases and controls did not show any statistical differences (binomial multivariate logistic regression SMN1 p = 0.54 and SMN2 p = 0.49). In addition, the copy number of SMN did not associate with patient survival (Royston-Parmar; SMN1 p = 0.78 and SMN2 p = 0.23) or age at onset (Royston-Parmar; SMN1 p = 0.75 and SMN2 p = 0.63).Interpretation: In our well-powered study, there was no association of SMN1 or SMN2 copy numbers with the risk of ALS or ALS disease severity. This suggests that changing SMN protein levels in the physiological range may not modify ALS disease course. This is an important finding in the light of emerging therapies targeted at SMN deficiencies.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng
700	1	a Zwamborn, Ramona A. J.4 aut
700	1	a van Vugt, Joke4 aut
700	1	a van Der Spek, Rick4 aut
700	1	a van Rheenen, Wouter4 aut
700	1	a Kenna, Brendan4 aut
700	1	a Van Eijk, Kristel4 aut
700	1	a Kenna, Kevin4 aut
700	1	a Corcia, Philippe4 aut
700	1	a Couratier, Philippe4 aut
700	1	a Vourc'h, Patrick4 aut
700	1	a Hardiman, Orla4 aut
700	1	a McLaughin, Russell4 aut
700	1	a Gotkine, Marc4 aut
700	1	a Drory, Vivian4 aut
700	1	a Ticozzi, Nicola4 aut
700	1	a Silani, Vincenzo4 aut
700	1	a de Carvalho, Mamede4 aut
700	1	a Mora Pardina, Jesús S.4 aut
700	1	a Povedano, Monica4 aut
700	1	a Andersen, Peter M.,d 1962-u Umeå universitet,Neurovetenskaper4 aut0 (Swepub:umu)pean0001
700	1	a Weber, Markus4 aut
700	1	a Basak, Nazli A.4 aut
700	1	a Chen, Xiao4 aut
700	1	a Eberle, Michael A.4 aut
700	1	a Al-Chalabi, Ammar4 aut
700	1	a Shaw, Chris4 aut
700	1	a Shaw, Pamela J.4 aut
700	1	a Morrison, Karen E.4 aut
700	1	a Landers, John E.4 aut
700	1	a Glass, Jonathan D.4 aut
700	1	a Robberecht, Wim4 aut
700	1	a van Es, Michael4 aut
700	1	a van den Berg, Leonard4 aut
700	1	a Veldink, Jan4 aut
700	1	a Van Damme, Philip4 aut
710	2	a Umeå universitetb Neurovetenskaper4 org
773	0	t Annals of Neurologyd : John Wiley & Sonsg 89:4, s. 686-697q 89:4<686-697x 0364-5134x 1531-8249
856	4	u https://doi.org/10.1002/ana.26009y Fulltext
856	4	u https://umu.diva-portal.org/smash/get/diva2:1525569/FULLTEXT02.pdfx primaryx Raw objecty fulltext:print
856	4	u https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ana.26009
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-179430
856	4 8	u https://doi.org/10.1002/ana.26009

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