ATXN2 trinucleotide repeat length correlates with risk of ALS

Vincenzo La Bella; Edor Kabashi; Pietro Fratta; Isabella Fogh; Hussein Daoud; Monica Forzan; Tim Van Langenhove; Serena Lattante; Christopher E. Shaw; Gianni Sorarù; Wouter Van Rheenen; William Sproviero; Ashley R. Jones; Maryam Shoai; Aleksey Shatunov; Peter M. Andersen; Peter M. Andersen; Jan H. Veldink; John Hardy; Giovanni Stevanin; Leonard H. Van Den Berg; Daniel Stahl; Maria Del Mar Amador; Ben Gaastra; Guy Rouleau; Aaron D. Gitler; Safa Al-Sarraj; Katie Sidle; Rosa Rademakers; Isabelle Le Ber; Katie Sidle; Andrea Malaspina; Owen A. Ross; Francesca L. Conforti; Ammar Al-Chalabi; Cinzia Gellera; Wim Robberecht; Richard Orrell; Nancy M. Bonini; Bing-Wen Soong; Vincent Meininger; Philip Van Damme; Christine Van Broeckhoven; John F. Powell; Bradley N. Smith; Claire Troakes; Francois Salachas; Stéphanie Millecamps; Yi-Chung Lee

ATXN2 trinucleotide repeat length correlates with risk of ALS

Vincenzo La Bella, Edor Kabashi, Pietro Fratta, Isabella Fogh, Hussein Daoud, Monica Forzan, Tim Van Langenhove, Serena Lattante, Christopher E. Shaw, Gianni Sorarù, Wouter Van Rheenen, William Sproviero, Ashley R. Jones, Maryam Shoai, Aleksey Shatunov, Peter M. Andersen, Peter M. Andersen, Jan H. Veldink, John Hardy, Giovanni StevaninLeonard H. Van Den Berg, Daniel Stahl, Maria Del Mar Amador, Ben Gaastra, Guy Rouleau, Aaron D. Gitler, Safa Al-Sarraj, Katie Sidle, Rosa Rademakers, Isabelle Le Ber, Katie Sidle, Andrea Malaspina, Owen A. Ross, Francesca L. Conforti, Ammar Al-Chalabi, Cinzia Gellera, Wim Robberecht, Richard Orrell, Nancy M. Bonini, Bing-Wen Soong, Vincent Meininger, Philip Van Damme, Christine Van Broeckhoven, John F. Powell, Bradley N. Smith, Claire Troakes, Francois Salachas, Stéphanie Millecamps, Yi-Chung Lee

Biomedicina, Neuroscienze e Diagnostica avanzata

Risultato della ricerca: Article › peer review

46 Citazioni (Scopus)

Abstract

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 (R2 = 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.

Lingua originale	English
pagine (da-a)	178.e1-178.e9
Numero di pagine	9
Rivista	Neurobiology of Aging
Volume	51
Stato di pubblicazione	Published - 2017

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La Bella, V., Kabashi, E., Fratta, P., Fogh, I., Daoud, H., Forzan, M., Van Langenhove, T., Lattante, S., Shaw, C. E., Sorarù, G., Van Rheenen, W., Sproviero, W., Jones, A. R., Shoai, M., Shatunov, A., Andersen, P. M., Andersen, P. M., Veldink, J. H., Hardy, J., ... Lee, Y-C. (2017). ATXN2 trinucleotide repeat length correlates with risk of ALS. Neurobiology of Aging, 51, 178.e1-178.e9.

ATXN2 trinucleotide repeat length correlates with risk of ALS. / La Bella, Vincenzo; Kabashi, Edor; Fratta, Pietro; Fogh, Isabella; Daoud, Hussein; Forzan, Monica; Van Langenhove, Tim; Lattante, Serena; Shaw, Christopher E.; Sorarù, Gianni; Van Rheenen, Wouter; Sproviero, William; Jones, Ashley R.; Shoai, Maryam; Shatunov, Aleksey; Andersen, Peter M.; Andersen, Peter M.; Veldink, Jan H.; Hardy, John; Stevanin, Giovanni; Van Den Berg, Leonard H.; Stahl, Daniel; Del Mar Amador, Maria; Gaastra, Ben; Rouleau, Guy; Gitler, Aaron D.; Al-Sarraj, Safa; Sidle, Katie; Rademakers, Rosa; Le Ber, Isabelle; Sidle, Katie; Malaspina, Andrea; Ross, Owen A.; Conforti, Francesca L.; Al-Chalabi, Ammar; Gellera, Cinzia; Robberecht, Wim; Orrell, Richard; Bonini, Nancy M.; Soong, Bing-Wen; Meininger, Vincent; Van Damme, Philip; Van Broeckhoven, Christine; Powell, John F.; Smith, Bradley N.; Troakes, Claire; Salachas, Francois; Millecamps, Stéphanie; Lee, Yi-Chung.

In: Neurobiology of Aging, Vol. 51, 2017, pag. 178.e1-178.e9.

Risultato della ricerca: Article › peer review

La Bella, V, Kabashi, E, Fratta, P, Fogh, I, Daoud, H, Forzan, M, Van Langenhove, T, Lattante, S, Shaw, CE, Sorarù, G, Van Rheenen, W, Sproviero, W, Jones, AR, Shoai, M, Shatunov, A, Andersen, PM, Andersen, PM, Veldink, JH, Hardy, J, Stevanin, G, Van Den Berg, LH, Stahl, D, Del Mar Amador, M, Gaastra, B, Rouleau, G, Gitler, AD, Al-Sarraj, S, Sidle, K, Rademakers, R, Le Ber, I, Sidle, K, Malaspina, A, Ross, OA, Conforti, FL, Al-Chalabi, A, Gellera, C, Robberecht, W, Orrell, R, Bonini, NM, Soong, B-W, Meininger, V, Van Damme, P, Van Broeckhoven, C, Powell, JF, Smith, BN, Troakes, C, Salachas, F, Millecamps, S & Lee, Y-C 2017, 'ATXN2 trinucleotide repeat length correlates with risk of ALS', Neurobiology of Aging, vol. 51, pagg. 178.e1-178.e9.

La Bella, Vincenzo ; Kabashi, Edor ; Fratta, Pietro ; Fogh, Isabella ; Daoud, Hussein ; Forzan, Monica ; Van Langenhove, Tim ; Lattante, Serena ; Shaw, Christopher E. ; Sorarù, Gianni ; Van Rheenen, Wouter ; Sproviero, William ; Jones, Ashley R. ; Shoai, Maryam ; Shatunov, Aleksey ; Andersen, Peter M. ; Andersen, Peter M. ; Veldink, Jan H. ; Hardy, John ; Stevanin, Giovanni ; Van Den Berg, Leonard H. ; Stahl, Daniel ; Del Mar Amador, Maria ; Gaastra, Ben ; Rouleau, Guy ; Gitler, Aaron D. ; Al-Sarraj, Safa ; Sidle, Katie ; Rademakers, Rosa ; Le Ber, Isabelle ; Sidle, Katie ; Malaspina, Andrea ; Ross, Owen A. ; Conforti, Francesca L. ; Al-Chalabi, Ammar ; Gellera, Cinzia ; Robberecht, Wim ; Orrell, Richard ; Bonini, Nancy M. ; Soong, Bing-Wen ; Meininger, Vincent ; Van Damme, Philip ; Van Broeckhoven, Christine ; Powell, John F. ; Smith, Bradley N. ; Troakes, Claire ; Salachas, Francois ; Millecamps, Stéphanie ; Lee, Yi-Chung. / ATXN2 trinucleotide repeat length correlates with risk of ALS. In: Neurobiology of Aging. 2017 ; Vol. 51. pagg. 178.e1-178.e9.

@article{7dfb9d85b5db4bc381080af2e94077ff,

title = "ATXN2 trinucleotide repeat length correlates with risk of ALS",

abstract = "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 (R2 = 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.",

author = "{La Bella}, Vincenzo and Edor Kabashi and Pietro Fratta and Isabella Fogh and Hussein Daoud and Monica Forzan and {Van Langenhove}, Tim and Serena Lattante and Shaw, {Christopher E.} and Gianni Sorar{\`u} and {Van Rheenen}, Wouter and William Sproviero and Jones, {Ashley R.} and Maryam Shoai and Aleksey Shatunov and Andersen, {Peter M.} and Andersen, {Peter M.} and Veldink, {Jan H.} and John Hardy and Giovanni Stevanin and {Van Den Berg}, {Leonard H.} and Daniel Stahl and {Del Mar Amador}, Maria and Ben Gaastra and Guy Rouleau and Gitler, {Aaron D.} and Safa Al-Sarraj and Katie Sidle and Rosa Rademakers and {Le Ber}, Isabelle and Katie Sidle and Andrea Malaspina and Ross, {Owen A.} and Conforti, {Francesca L.} and Ammar Al-Chalabi and Cinzia Gellera and Wim Robberecht and Richard Orrell and Bonini, {Nancy M.} and Bing-Wen Soong and Vincent Meininger and {Van Damme}, Philip and {Van Broeckhoven}, Christine and Powell, {John F.} and Smith, {Bradley N.} and Claire Troakes and Francois Salachas and St{\'e}phanie Millecamps and Yi-Chung Lee",

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T1 - ATXN2 trinucleotide repeat length correlates with risk of ALS

AU - La Bella, Vincenzo

AU - Kabashi, Edor

AU - Fratta, Pietro

AU - Fogh, Isabella

AU - Daoud, Hussein

AU - Forzan, Monica

AU - Van Langenhove, Tim

AU - Lattante, Serena

AU - Shaw, Christopher E.

AU - Sorarù, Gianni

AU - Van Rheenen, Wouter

AU - Sproviero, William

AU - Jones, Ashley R.

AU - Shoai, Maryam

AU - Shatunov, Aleksey

AU - Andersen, Peter M.

AU - Veldink, Jan H.

AU - Hardy, John

AU - Stevanin, Giovanni

AU - Van Den Berg, Leonard H.

AU - Stahl, Daniel

AU - Del Mar Amador, Maria

AU - Gaastra, Ben

AU - Rouleau, Guy

AU - Gitler, Aaron D.

AU - Al-Sarraj, Safa

AU - Sidle, Katie

AU - Rademakers, Rosa

AU - Le Ber, Isabelle

AU - Sidle, Katie

AU - Malaspina, Andrea

AU - Ross, Owen A.

AU - Conforti, Francesca L.

AU - Al-Chalabi, Ammar

AU - Gellera, Cinzia

AU - Robberecht, Wim

AU - Orrell, Richard

AU - Bonini, Nancy M.

AU - Soong, Bing-Wen

AU - Meininger, Vincent

AU - Van Damme, Philip

AU - Van Broeckhoven, Christine

AU - Powell, John F.

AU - Smith, Bradley N.

AU - Troakes, Claire

AU - Salachas, Francois

AU - Millecamps, Stéphanie

AU - Lee, Yi-Chung

PY - 2017

Y1 - 2017

N2 - 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 (R2 = 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.

AB - 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 (R2 = 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.

UR - http://hdl.handle.net/10447/226823

UR - http://www.elsevier.com/locate/neuaging

M3 - Article

VL - 51

SP - 178.e1-178.e9

JO - Neurobiology of Aging

JF - Neurobiology of Aging

SN - 0197-4580

ER -

ATXN2 trinucleotide repeat length correlates with risk of ALS

Abstract

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