ATXN2 trinucleotide repeat length correlates with risk of ALS

doi:10.1016/j.neurobiolaging.2016.11.010

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Fältnamn	Indikatorer	Metadata
000		05045naa a22011413a 4500
001		20815288
003		SE-LIBR
005		20170516203637.0
007		cr\|\|\|\|\|\|\|\|\|\|\|\|
008		170516s2017 sw \|\|\|\| o \|\|\|\| \|\|eng c
024	7	a http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1349802 uri
024	7	a urn:nbn:se:umu:diva-1349802 urn
024	7	a 10.1016/j.neurobiolaging.2016.11.0102 doi
040		a S
041	0	a eng
042		9 EPLK
100	1	a Sproviero, William4 aut
245	1 0	a ATXN2 trinucleotide repeat length correlates with risk of ALSh [Elektronisk resurs]
260		c 2017
500		a Published
506	0	a gratis
520		a We investigated a CAG trinucleotide repeat expansion in the ATXN2 gene in amyotrophic lateral sclerosis (ALS). Two new case-control studies, a British dataset of 1474 ALS cases and 567 controls, and a Dutch dataset of 1328 ALS cases and 691 controls were analyzed. In addition, to increase power, we systematically searched PubMed for case-control studies published after 1 August 2010 that investigated the association between ATXN2 intermediate repeats and ALS. We conducted a meta-analysis of the new and existing studies for the relative risks of ATXN2 intermediate repeat alleles of between 24 and 34 CAG trinucleotide repeats and ALS. There was an overall increased risk of ALS for those carrying intermediate sized trinucleotide repeat alleles (odds ratio 3.06 [95% confidence interval 2.37-3.94]; p = 6 × 10(-18)), with an exponential relationship between repeat length and ALS risk for alleles of 29-32 repeats (R(2) = 0.91, p = 0.0002). No relationship was seen for repeat length and age of onset or survival. In contrast to trinucleotide repeat diseases, intermediate ATXN2 trinucleotide repeat expansion in ALS does not predict age of onset but does predict disease risk.
650	7	a Medical and Health Sciences2 hsv
650	7	a Basic Medicine2 hsv
650	7	a Neurosciences2 hsv
650	7	a Medicin och hälsovetenskap2 hsv
650	7	a Medicinska grundvetenskaper2 hsv
650	7	a Neurovetenskaper2 hsv
653	0	a ALS
653	0	a ATXN2
653	0	a Age of onset
653	0	a Amyotrophic lateral sclerosis
653	0	a CAG
653	0	a Expansion
653	0	a Exponential risk
653	0	a Intermediate expansion
653	0	a Risk
653	0	a SCA2
653	0	a Trinucleotide repeat
653	0	a Triplet
700	1	a Shatunov, Aleksey4 aut
700	1	a Stahl, Daniel4 aut
700	1	a Shoai, Maryam4 aut
700	1	a van Rheenen, Wouter4 aut
700	1	a Jones, Ashley R.4 aut
700	1	a Al-Sarraj, Safa4 aut
700	1	a Andersen, Peter M.4 aut
700	1	a Bonini, Nancy M4 aut
700	1	a Conforti, Francesca L4 aut
700	1	a Van Damme, Philip4 aut
700	1	a Daoud, Hussein4 aut
700	1	a Del Mar Amador, Maria4 aut
700	1	a Fogh, Isabella4 aut
700	1	a Forzan, Monica4 aut
700	1	a Gaastra, Ben4 aut
700	1	a Gellera, Cinzia4 aut
700	1	a Gitler, Aaron D4 aut
700	1	a Hardy, John4 aut
700	1	a Fratta, Pietro4 aut
700	1	a La Bella, Vincenzo4 aut
700	1	a Le Ber, Isabelle4 aut
700	1	a Van Langenhove, Tim4 aut
700	1	a Lattante, Serena4 aut
700	1	a Lee, Yi-Chung4 aut
700	1	a Malaspina, Andrea4 aut
700	1	a Meininger, Vincent4 aut
700	1	a Millecamps, Stéphanie4 aut
700	1	a Orrell, Richard4 aut
700	1	a Rademakers, Rosa4 aut
700	1	a Robberecht, Wim4 aut
700	1	a Rouleau, Guy4 aut
700	1	a Ross, Owen A4 aut
700	1	a Salachas, Francois4 aut
700	1	a Sidle, Katie4 aut
700	1	a Smith, Bradley N4 aut
700	1	a Soong, Bing-Wen4 aut
700	1	a Sorarù, Gianni4 aut
700	1	a Stevanin, Giovanni4 aut
700	1	a Kabashi, Edor4 aut
700	1	a Troakes, Claire4 aut
700	1	a van Broeckhoven, Christine4 aut
700	1	a Veldink, Jan H4 aut
700	1	a van den Berg, Leonard H4 aut
700	1	a Shaw, Christopher E4 aut
700	1	a Powell, John F4 aut
700	1	a Al-Chalabi, Ammar4 aut
710	1 2	a Umeå universitetb Medicinska fakulteten4 pbl0 268483
772	1 8	i channel recordw 18813935
773	0 8	i Värdpublikationt Neurobiology of Agingg 51, 178.e1-178.e9x 0197-4580
856	4 0	u http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-134980
856	4 0	u http://dx.doi.org/10.1016/j.neurobiolaging.2016.11.010
856	4 0	u http://umu.diva-portal.org/smash/get/diva2:1095570/FULLTEXT01
910	2 s	6 710a Umeå universitet.b Medicinsk-odontologiska fakultetenu Umeå universitet.b Medicinska fakulteten
910	2 s	6 710a Medicinska fakulteten vid Umeå universitetu Umeå universitet.b Medicinska fakulteten
841		5 APISa x ab 170516\|\|0000\|\|\|\|\|001\|\|\|\|\|\|000000e 1
024	7	5 APISa urn:nbn:se:umu:diva-1349802 urn
852		5 APISb APIS
856	4 0	5 APISu http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-134980

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Av författaren/redakt...: Sproviero, Willi ...; Shatunov, Alekse ...; Stahl, Daniel; Shoai, Maryam; van Rheenen, Wou ...; Jones, Ashley R.; visa fler...; Al-Sarraj, Safa; Andersen, Peter ...; Bonini, Nancy M; Conforti, France ...; Van Damme, Phili ...; Daoud, Hussein; Del Mar Amador, ...; Fogh, Isabella; Forzan, Monica; Gaastra, Ben; Gellera, Cinzia; Gitler, Aaron D; Hardy, John; Fratta, Pietro; La Bella, Vincen ...; Le Ber, Isabelle; Van Langenhove, ...; Lattante, Serena; Lee, Yi-Chung; Malaspina, Andre ...; Meininger, Vince ...; Millecamps, Stép ...; Orrell, Richard; Rademakers, Rosa; Robberecht, Wim; Rouleau, Guy; Ross, Owen A; Salachas, Franco ...; Sidle, Katie; Smith, Bradley N; Soong, Bing-Wen; Sorarù, Gianni; Stevanin, Giovan ...; Kabashi, Edor; Troakes, Claire; van Broeckhoven, ...; Veldink, Jan H; van den Berg, Le ...; Shaw, Christophe ...; Powell, John F; Al-Chalabi, Amma ...; visa färre...

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