CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis

Bruson, A.; Sambataro, Fabio; Querin, G.; D'Ascenzo, C.; Palmieri, A.; Agostini, J.; Gaiani, A.; Angelini, C.; Galbiati, M.; Poletti, A.; Pennuto, M.; Pegoraro, E.; Clementi, M.; Soraru, G.

doi:10.1111/j.1468-1331.2011.03646.x

Background: Epidemiological and clinical studies show higher prevalence of amyotrophic lateral sclerosis (ALS) in males than in females and more severe lesions in androgen receptor (AR)-expressing tissues. The AR gene contains a polymorphic CAG trinucleotide repeat, whose expansion over a certain threshold is toxic to motor neurons, causing spinal and bulbar muscular atrophy (SBMA). Purpose and methods: We tested the hypothesis that the AR CAG repeat linked to SBMA is a risk factor for ALS. We analyzed AR CAG expansions in 336 patients with ALS and 100 controls. Results: We found a negative association of AR CAG expansions with ALS susceptibility, clinical presentation, and survival. Conclusions: Our findings do not support a role of the AR CAG repeat length in ALS.

Titolo:	CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis
Autori:	Bruson, A. SAMBATARO, Fabio Querin, G. D'Ascenzo, C. Palmieri, A. Agostini, J. Gaiani, A. Angelini, C. Galbiati, M. Poletti, A. Pennuto, M. Pegoraro, E. Clementi, M. Soraru, G. mostra contributor esterni nascondi contributor esterni
Data di pubblicazione:	2012
Rivista:	EUROPEAN JOURNAL OF NEUROLOGY
Abstract:	Background: Epidemiological and clinical studies show higher prevalence of amyotrophic lateral sclerosis (ALS) in males than in females and more severe lesions in androgen receptor (AR)-expressing tissues. The AR gene contains a polymorphic CAG trinucleotide repeat, whose expansion over a certain threshold is toxic to motor neurons, causing spinal and bulbar muscular atrophy (SBMA). Purpose and methods: We tested the hypothesis that the AR CAG repeat linked to SBMA is a risk factor for ALS. We analyzed AR CAG expansions in 336 patients with ALS and 100 controls. Results: We found a negative association of AR CAG expansions with ALS susceptibility, clinical presentation, and survival. Conclusions: Our findings do not support a role of the AR CAG repeat length in ALS.
Handle:	http://hdl.handle.net/11390/1071976
Appare nelle tipologie:	1.1 Articolo in rivista

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