TY - JOUR
T1 - Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients
AU - Tavares de Andrade, Helen Maia
AU - Cintra, Vívian Pedigone
AU - de Albuquerque, Milena
AU - Piccinin, Camila Callegari
AU - Bonadia, Luciana Cardoso
AU - Duarte Couteiro, Rafael Esteves
AU - Sabino de Oliveira, Daniel
AU - Claudino, Rinaldo
AU - Magno Gonçalves, Marcos Vinicius
AU - Dourado, Mario Emilio Teixeira
AU - de Souza, Leonardo Cruz
AU - Teixeira, Antônio Lúcio
AU - de Godoy Rousseff Prado, Laura
AU - Tumas, Vitor
AU - Bulle Oliveira, Acary Souza
AU - Nucci, Anamarli
AU - Lopes-Cendes, Iscia
AU - Marques, Wilson
AU - França, Marcondes C.
N1 - Publisher Copyright:
© 2018 Elsevier Inc.
PY - 2018/9
Y1 - 2018/9
N2 - Intermediate-length cytosine-adenine-guanine nucleotide repeat expansions in the ATXN2 gene (which encodes for the protein Ataxin-2) have been linked to increased risk for amyotrophic lateral sclerosis (ALS) in different populations. There is no such study in the Brazilian population, which has a mixed ethnic background. We have thus selected 459 patients with ALS (372 Sporadic ALS and 87 Familial ALS) and 468 control subjects from 6 Brazilian centers to investigate this point. We performed polymerase chain reaction to determine the length of the ATXN2 alleles. Polymerase chain reaction products were resolved using capillary electrophoresis on ABI 3500 × l capillary sequencer. We found that ATXN2 intermediate-length expansions (larger than 26 repeats) were associated with an increased risk for ALS (odds ratio = 2.56, 95% confidence interval: 1.29–5.08, p = 0.005). Phenotype in patients with and without ATXN2 expansions was similar. Our findings support the hypothesis that ATXN2 plays an important role in the pathogenesis of ALS also in the Brazilian population.
AB - Intermediate-length cytosine-adenine-guanine nucleotide repeat expansions in the ATXN2 gene (which encodes for the protein Ataxin-2) have been linked to increased risk for amyotrophic lateral sclerosis (ALS) in different populations. There is no such study in the Brazilian population, which has a mixed ethnic background. We have thus selected 459 patients with ALS (372 Sporadic ALS and 87 Familial ALS) and 468 control subjects from 6 Brazilian centers to investigate this point. We performed polymerase chain reaction to determine the length of the ATXN2 alleles. Polymerase chain reaction products were resolved using capillary electrophoresis on ABI 3500 × l capillary sequencer. We found that ATXN2 intermediate-length expansions (larger than 26 repeats) were associated with an increased risk for ALS (odds ratio = 2.56, 95% confidence interval: 1.29–5.08, p = 0.005). Phenotype in patients with and without ATXN2 expansions was similar. Our findings support the hypothesis that ATXN2 plays an important role in the pathogenesis of ALS also in the Brazilian population.
KW - ALS
KW - ATXN2 gene
KW - Brazilian patients
KW - Risk factor
UR - https://www.scopus.com/pages/publications/85048726588
UR - https://www.scopus.com/inward/citedby.url?scp=85048726588&partnerID=8YFLogxK
U2 - 10.1016/j.neurobiolaging.2018.04.020
DO - 10.1016/j.neurobiolaging.2018.04.020
M3 - Article
C2 - 29934271
AN - SCOPUS:85048726588
SN - 0197-4580
VL - 69
SP - 292.e15-292.e18
JO - Neurobiology of Aging
JF - Neurobiology of Aging
ER -