Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies.

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Fältnamn	Indikatorer	Metadata
000		04307naa a2200709 4500
001		oai:lup.lub.lu.se:2ae5e760-94f2-4122-81c7-09766f81d24e
003		SwePub
008		160401s2015 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://lup.lub.lu.se/record/80433502 URI
024	7	a https://doi.org/10.1212/WNL.00000000000019462 DOI
040		a (SwePub)lu
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a Labbé, Catherine4 aut
245	1 0	a Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies.
264	1	c 2015
520		a Objective:To assess the importance of MAPT variant p.A152T in the risk of synucleinopathies. Methods:In this case-control study, we screened a large global series of patients and controls, and assessed associations between p.A152T and disease risk. We included 3,229 patients with clinical Parkinson disease (PD), 442 with clinical dementia with Lewy bodies (DLB), 181 with multiple system atrophy (MSA), 832 with pathologically confirmed Lewy body disease (LBD), and 2,456 healthy controls. Results:The minor allele frequencies (MAF) in clinical PD cases (0.28%) and in controls (0.2%) were not found to be significantly different (odds ratio [OR] 1.37, 95% confidence interval [CI] 0.63-2.98, p = 0.42). However, a significant association was observed with clinical DLB (MAF 0.68%, OR 5.76, 95% CI 1.62-20.51, p = 0.007) and LBD (MAF 0.42%, OR 3.55, 95% CI 1.04-12.17, p = 0.04). Additionally, p.A152T was more common in patients with MSA compared to controls (MAF 0.55%, OR 4.68, 95% CI 0.85-25.72, p = 0.08) but this was not statistically significant and therefore should be interpreted with caution. Conclusions:Overall, our findings suggest that MAPT p.A152T is a rare low penetrance variant likely associated with DLB that may be influenced by coexisting LBD and AD pathology. Given the rare nature of the variant, further studies with greater sample size are warranted and will help to fully explain the role of p.A152T in the pathogenesis of the synucleinopathies
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 Ogaki, Kotaro4 aut
700	1	a Lorenzo-Betancor, Oswaldo4 aut
700	1	a Soto-Ortolaza, Alexandra I4 aut
700	1	a Walton, Ronald L4 aut
700	1	a Rayaprolu, Sruti4 aut
700	1	a Fujioka, Shinsuke4 aut
700	1	a Murray, Melissa E4 aut
700	1	a Heckman, Michael G4 aut
700	1	a Puschmann, Andreasu Lund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)med-aps
700	1	a McCarthy, Allan4 aut
700	1	a Lynch, Timothy4 aut
700	1	a Siuda, Joanna4 aut
700	1	a Opala, Grzegorz4 aut
700	1	a Rudzinska, Monika4 aut
700	1	a Krygowska-Wajs, Anna4 aut
700	1	a Barcikowska, Maria4 aut
700	1	a Czyzewski, Krzysztof4 aut
700	1	a Sanotsky, Yanosh4 aut
700	1	a Rektorová, Irena4 aut
700	1	a McLean, Pamela J4 aut
700	1	a Rademakers, Rosa4 aut
700	1	a Ertekin-Taner, Nilüfer4 aut
700	1	a Hassan, Anhar4 aut
700	1	a Ahlskog, J Eric4 aut
700	1	a Boeve, Bradley F4 aut
700	1	a Petersen, Ronald C4 aut
700	1	a Maraganore, Demetrius M4 aut
700	1	a Adler, Charles H4 aut
700	1	a Ferman, Tanis J4 aut
700	1	a Parisi, Joseph E4 aut
700	1	a Graff-Radford, Neill R4 aut
700	1	a Uitti, Ryan J4 aut
700	1	a Wszolek, Zbigniew K4 aut
700	1	a Dickson, Dennis W4 aut
700	1	a Ross, Owen A4 aut
710	2	a Neurologi, Lundb Sektion IV4 org
773	0	t Neurologyg 85:19, s. 1680-1686q 85:19<1680-1686x 1526-632X
856	4	u http://www.ncbi.nlm.nih.gov/pubmed/26333800?dopt=Abstracty FULLTEXT
856	4	u http://dx.doi.org/10.1212/WNL.0000000000001946y FULLTEXT
856	4 8	u https://lup.lub.lu.se/record/8043350
856	4 8	u https://doi.org/10.1212/WNL.0000000000001946

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