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

J 2015

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

LABBÉ, Catherine; Kotaro OGAKI; Oswaldo LORENZO-BETANCOR; Alexandra I. SOTO-ORTOLAZA; Ronald L. WALTON et. al.

Základní údaje

Originální název

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

Autoři

LABBÉ, Catherine (840 Spojené státy); Kotaro OGAKI (840 Spojené státy); Oswaldo LORENZO-BETANCOR (840 Spojené státy); Alexandra I. SOTO-ORTOLAZA (840 Spojené státy); Ronald L. WALTON (840 Spojené státy); Sruti RAYAPROLU (840 Spojené státy); Shinsuke FUJIOKA (840 Spojené státy); Melissa E. MURRAY (840 Spojené státy); Michael G. HECKMAN (840 Spojené státy); Andreas PUSCHMANN (752 Švédsko); Allan MCCARTHY (372 Irsko); Timothy LYNCH (372 Irsko); Joanna SIUDA (616 Polsko); Grzegorz OPALA (616 Polsko); Monika RUDZINSKA (616 Polsko); Anna KRYGOWSKA-WAJS (616 Polsko); Maria BARCIKOWSKA (616 Polsko); Krzysztof CZYZEWSKI (616 Polsko); Yanosh SANOTSKY (804 Ukrajina); Irena REKTOROVÁ (203 Česká republika, garant, domácí); Pamela J. MCLEAN (840 Spojené státy); Rosa RADEMAKERS (840 Spojené státy); Niluefer ERTEKIN-TANER (840 Spojené státy); Anhar HASSAN (840 Spojené státy); J. Eric AHLSKOG (840 Spojené státy); Bradley F. BOEVE (840 Spojené státy); Ronald C. PETERSEN (840 Spojené státy); Demetrius M. MARAGANORE (840 Spojené státy); Charles H. ADLER (840 Spojené státy); Tanis J. FERMAN (840 Spojené státy); Joseph E. PARISI (840 Spojené státy); Neill R. GRAFF-RADFORD (840 Spojené státy); Ryan J. UITTI (840 Spojené státy); Zbigniew K. WSZOLEK (840 Spojené státy); Dennis W. DICKSON (840 Spojené státy) a Owen A. ROSS (840 Spojené státy)

Vydání

Neurology, Philadelphia, LIPPINCOTT WILLIAMS & WILKINS, 2015, 0028-3878

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30000 3. Medical and Health Sciences

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 8.166

Kód RIV

RIV/00216224:14740/15:00085057

Organizační jednotka

Středoevropský technologický institut

DOI

http://dx.doi.org/10.1212/WNL.0000000000001946

UT WoS

000364338500009

EID Scopus

2-s2.0-84946916693

Klíčová slova anglicky

adult; aged; alpha synucleinopathies; Article; case control study; controlled study; degenerative disease; diffuse Lewy body disease; disease predisposition

Štítky

podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 4. 4. 2016 15:00, Mgr. Eva Špillingová

Anotace

V originále

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. © 2015 American Academy of Neurology.

Přiložené soubory

ZVV_2015_143_1319706_Role_of_the_microtubule.pdf

Požádat o autorskou verzi souboru

Citovat

LABBÉ, Catherine; Kotaro OGAKI; Oswaldo LORENZO-BETANCOR; Alexandra I. SOTO-ORTOLAZA; Ronald L. WALTON; Sruti RAYAPROLU; Shinsuke FUJIOKA; Melissa E. MURRAY; Michael G. HECKMAN; Andreas PUSCHMANN; Allan MCCARTHY; Timothy LYNCH; Joanna SIUDA; Grzegorz OPALA; Monika RUDZINSKA; Anna KRYGOWSKA-WAJS; Maria BARCIKOWSKA; Krzysztof CZYZEWSKI; Yanosh SANOTSKY; Irena REKTOROVÁ; Pamela J. MCLEAN; Rosa RADEMAKERS; Niluefer ERTEKIN-TANER; Anhar HASSAN; J. Eric AHLSKOG; Bradley F. BOEVE; Ronald C. PETERSEN; Demetrius M. MARAGANORE; Charles H. ADLER; Tanis J. FERMAN; Joseph E. PARISI; Neill R. GRAFF-RADFORD; Ryan J. UITTI; Zbigniew K. WSZOLEK; Dennis W. DICKSON a Owen A. ROSS. Role for the microtubule-associated protein tau variant p.A152T in risk of alpha-synucleinopathies. Neurology. Philadelphia: LIPPINCOTT WILLIAMS & WILKINS, 2015, roč. 85, č. 19, s. 1680-1686. ISSN 0028-3878. Dostupné z: https://dx.doi.org/10.1212/WNL.0000000000001946.

@article{1319706,
   author = {Labbé, Catherine and Ogaki, Kotaro and LorenzoandBetancor, Oswaldo and SotoandOrtolaza, Alexandra I. and Walton, Ronald L. and Rayaprolu, Sruti and Fujioka, Shinsuke and Murray, Melissa E. and Heckman, Michael G. and Puschmann, Andreas and McCarthy, Allan and Lynch, Timothy and Siuda, Joanna and Opala, Grzegorz and Rudzinska, Monika and KrygowskaandWajs, Anna and Barcikowska, Maria and Czyzewski, Krzysztof and Sanotsky, Yanosh and Rektorová, Irena and McLean, Pamela J. and Rademakers, Rosa and ErtekinandTaner, Niluefer and Hassan, Anhar and Ahlskog, J. Eric and Boeve, Bradley F. and Petersen, Ronald C. and Maraganore, Demetrius M. and Adler, Charles H. and Ferman, Tanis J. and Parisi, Joseph E. and GraffandRadford, Neill R. and Uitti, Ryan J. and Wszolek, Zbigniew K. and Dickson, Dennis W. and Ross, Owen A.},
   article_location = {Philadelphia},
   article_number = {19},
   doi = {http://dx.doi.org/10.1212/WNL.0000000000001946},
   keywords = {adult; aged; alpha synucleinopathies; Article; case control study; controlled study; degenerative disease; diffuse Lewy body disease; disease predisposition},
   language = {eng},
   issn = {0028-3878},
   journal = {Neurology},
   title = {Role for the microtubule-associated protein tau variant p.A152T in risk of alpha-synucleinopathies},
   url = {http://www.neurology.org/content/85/19/1728.2.short},
   volume = {85},
   year = {2015}
}

TY  - JOUR
ID  - 1319706
AU  - Labbé, Catherine - Ogaki, Kotaro - Lorenzo-Betancor, Oswaldo - Soto-Ortolaza, Alexandra I. - Walton, Ronald L. - Rayaprolu, Sruti - Fujioka, Shinsuke - Murray, Melissa E. - Heckman, Michael G. - Puschmann, Andreas - McCarthy, Allan - Lynch, Timothy - Siuda, Joanna - Opala, Grzegorz - Rudzinska, Monika - Krygowska-Wajs, Anna - Barcikowska, Maria - Czyzewski, Krzysztof - Sanotsky, Yanosh - Rektorová, Irena - McLean, Pamela J. - Rademakers, Rosa - Ertekin-Taner, Niluefer - Hassan, Anhar - Ahlskog, J. Eric - Boeve, Bradley F. - Petersen, Ronald C. - Maraganore, Demetrius M. - Adler, Charles H. - Ferman, Tanis J. - Parisi, Joseph E. - Graff-Radford, Neill R. - Uitti, Ryan J. - Wszolek, Zbigniew K. - Dickson, Dennis W. - Ross, Owen A.
PY  - 2015
TI  - Role for the microtubule-associated protein tau variant p.A152T in risk of alpha-synucleinopathies
JF  - Neurology
VL  - 85
IS  - 19
SP  - 1680-1686
EP  - 1680-1686
PB  - LIPPINCOTT WILLIAMS & WILKINS
SN  - 00283878
KW  - adult
KW  - aged
KW  - alpha synucleinopathies
KW  - Article
KW  - case control study
KW  - controlled study
KW  - degenerative disease
KW  - diffuse Lewy body disease
KW  - disease predisposition
UR  - http://www.neurology.org/content/85/19/1728.2.short
L2  - http://www.neurology.org/content/85/19/1728.2.short
N2  - 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. © 2015 American Academy of Neurology.
ER  -

LABBÉ, Catherine; Kotaro OGAKI; Oswaldo LORENZO-BETANCOR; Alexandra I. SOTO-ORTOLAZA; Ronald L. WALTON; Sruti RAYAPROLU; Shinsuke FUJIOKA; Melissa E. MURRAY; Michael G. HECKMAN; Andreas PUSCHMANN; Allan MCCARTHY; Timothy LYNCH; Joanna SIUDA; Grzegorz OPALA; Monika RUDZINSKA; Anna KRYGOWSKA-WAJS; Maria BARCIKOWSKA; Krzysztof CZYZEWSKI; Yanosh SANOTSKY; Irena REKTOROVÁ; Pamela J. MCLEAN; Rosa RADEMAKERS; Niluefer ERTEKIN-TANER; Anhar HASSAN; J. Eric AHLSKOG; Bradley F. BOEVE; Ronald C. PETERSEN; Demetrius M. MARAGANORE; Charles H. ADLER; Tanis J. FERMAN; Joseph E. PARISI; Neill R. GRAFF-RADFORD; Ryan J. UITTI; Zbigniew K. WSZOLEK; Dennis W. DICKSON a Owen A. ROSS. Role for the microtubule-associated protein tau variant p.A152T in risk of alpha-synucleinopathies. \textit{Neurology}. Philadelphia: LIPPINCOTT WILLIAMS \&{} WILKINS, 2015, roč.~85, č.~19, s.~1680-1686. ISSN~0028-3878. Dostupné z: https://dx.doi.org/10.1212/WNL.0000000000001946.

Přehled o publikaci