Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients

Helen Maia Tavares de Andrade; Vívian Pedigone Cintra; Milena de Albuquerque; Camila Callegari Piccinin; Luciana Cardoso Bonadia; Rafael Esteves Duarte Couteiro; Daniel Sabino de Oliveira; Rinaldo Claudino; Marcos Vinicius Magno Gonçalves; Mario Emilio Teixeira Dourado; Leonardo Cruz de Souza; Antônio Lúcio Teixeira; Laura de Godoy Rousseff Prado; Vitor Tumas; Acary Souza Bulle Oliveira; Anamarli Nucci; Iscia Lopes-Cendes; Wilson Marques; Marcondes C. França

doi:10.1016/j.neurobiolaging.2018.04.020

Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients

Helen Maia Tavares de Andrade, Vívian Pedigone Cintra, Milena de Albuquerque, Camila Callegari Piccinin, Luciana Cardoso Bonadia, Rafael Esteves Duarte Couteiro, Daniel Sabino de Oliveira, Rinaldo Claudino, Marcos Vinicius Magno Gonçalves, Mario Emilio Teixeira Dourado, Leonardo Cruz de Souza, Antônio Lúcio Teixeira, Laura de Godoy Rousseff Prado, Vitor Tumas, Acary Souza Bulle Oliveira, Anamarli Nucci, Iscia Lopes-Cendes, Wilson Marques, Marcondes C. França

Research output: Contribution to journal › Article › peer-review

12 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	292.e15-292.e18
Journal	Neurobiology of Aging
Volume	69
DOIs	https://doi.org/10.1016/j.neurobiolaging.2018.04.020
State	Published - Sep 2018
Externally published	Yes

Keywords

ALS
ATXN2 gene
Brazilian patients
Risk factor

ASJC Scopus subject areas

General Neuroscience
Aging
Developmental Biology
Clinical Neurology
Geriatrics and Gerontology

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10.1016/j.neurobiolaging.2018.04.020

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Tavares de Andrade, H. M., Cintra, V. P., de Albuquerque, M., Piccinin, C. C., Bonadia, L. C., Duarte Couteiro, R. E., Sabino de Oliveira, D., Claudino, R., Magno Gonçalves, M. V., Dourado, M. E. T., de Souza, L. C., Teixeira, A. L., de Godoy Rousseff Prado, L., Tumas, V., Bulle Oliveira, A. S., Nucci, A., Lopes-Cendes, I., Marques, W., & França, M. C. (2018). Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients. Neurobiology of Aging, 69, 292.e15-292.e18. https://doi.org/10.1016/j.neurobiolaging.2018.04.020

Tavares de Andrade, HM, Cintra, VP, de Albuquerque, M, Piccinin, CC, Bonadia, LC, Duarte Couteiro, RE, Sabino de Oliveira, D, Claudino, R, Magno Gonçalves, MV, Dourado, MET, de Souza, LC, Teixeira, AL, de Godoy Rousseff Prado, L, Tumas, V, Bulle Oliveira, AS, Nucci, A, Lopes-Cendes, I, Marques, W & França, MC 2018, 'Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients', Neurobiology of Aging, vol. 69, pp. 292.e15-292.e18. https://doi.org/10.1016/j.neurobiolaging.2018.04.020

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title = "Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients",

abstract = "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.",

keywords = "ALS, ATXN2 gene, Brazilian patients, Risk factor",

author = "{Tavares de Andrade}, {Helen Maia} and Cintra, {V{\'i}vian Pedigone} and {de Albuquerque}, Milena and Piccinin, {Camila Callegari} and Bonadia, {Luciana Cardoso} and {Duarte Couteiro}, {Rafael Esteves} and {Sabino de Oliveira}, Daniel and Rinaldo Claudino and {Magno Gon{\c c}alves}, {Marcos Vinicius} and Dourado, {Mario Emilio Teixeira} and {de Souza}, {Leonardo Cruz} and Teixeira, {Ant{\^o}nio L{\'u}cio} and {de Godoy Rousseff Prado}, Laura and Vitor Tumas and {Bulle Oliveira}, {Acary Souza} and Anamarli Nucci and Iscia Lopes-Cendes and Wilson Marques and Fran{\c c}a, {Marcondes C.}",

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doi = "10.1016/j.neurobiolaging.2018.04.020",

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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.

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

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JO - Neurobiology of Aging

JF - Neurobiology of Aging

ER -

Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients

Abstract

Keywords

ASJC Scopus subject areas

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