The combined risk effect among BIN1, CLU, and APOE genes in Alzheimer’s disease
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Genetics and Molecular Biology |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100113 |
Resumo: | Abstract Genome-wide associations studies (GWAS) are detecting new variants associated with late-onset of Alzheimer’s disease (LOAD), a multifactorial neurodegenerative disorder. The variants rs744373 BIN1, rs11136000 CLU and rs3764650 ABCA7 uncovered by GWAS led to different AD pathways, such as metabolism, trafficking and endocytosis of lipids and inflammation. However, most of the association studies did not replicate these variants with significance. This could be due to a small power effect evident when these variants are tested independently with LOAD. Therefore, we aimed to investigate whether the combination of different variants would additively modify the risk of association with LOAD that is observed in GWAS. We performed an association study testing pairwise variants in metabolism, trafficking and endocytosis of lipid (rs429358 and rs7412 APOE, rs744373 BIN1, rs3764650 ABCA7 and rs11136000 CLU) pathways with LOAD in samples from southeastern Brazil. Our data suggest a risk effect for LOAD between APOE with CLU and APOE with BIN1 genes. |
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Genetics and Molecular Biology |
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The combined risk effect among BIN1, CLU, and APOE genes in Alzheimer’s diseaseGWAS variantsAPOECLUBIN1ABCA7Abstract Genome-wide associations studies (GWAS) are detecting new variants associated with late-onset of Alzheimer’s disease (LOAD), a multifactorial neurodegenerative disorder. The variants rs744373 BIN1, rs11136000 CLU and rs3764650 ABCA7 uncovered by GWAS led to different AD pathways, such as metabolism, trafficking and endocytosis of lipids and inflammation. However, most of the association studies did not replicate these variants with significance. This could be due to a small power effect evident when these variants are tested independently with LOAD. Therefore, we aimed to investigate whether the combination of different variants would additively modify the risk of association with LOAD that is observed in GWAS. We performed an association study testing pairwise variants in metabolism, trafficking and endocytosis of lipid (rs429358 and rs7412 APOE, rs744373 BIN1, rs3764650 ABCA7 and rs11136000 CLU) pathways with LOAD in samples from southeastern Brazil. Our data suggest a risk effect for LOAD between APOE with CLU and APOE with BIN1 genes.Sociedade Brasileira de Genética2020-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100113Genetics and Molecular Biology v.43 n.1 2020reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/1678-4685-gmb-2018-0320info:eu-repo/semantics/openAccessSantos,Lígia Ramos dosAlmeida,Jucimara Ferreira FigueiredoPimassoni,Lúcia Helena SagrilloMorelato,Renato LírioPaula,Flavia deeng2020-03-13T00:00:00Zoai:scielo:S1415-47572020000100113Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2020-03-13T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false |
dc.title.none.fl_str_mv |
The combined risk effect among BIN1, CLU, and APOE genes in Alzheimer’s disease |
title |
The combined risk effect among BIN1, CLU, and APOE genes in Alzheimer’s disease |
spellingShingle |
The combined risk effect among BIN1, CLU, and APOE genes in Alzheimer’s disease Santos,Lígia Ramos dos GWAS variants APOE CLU BIN1 ABCA7 |
title_short |
The combined risk effect among BIN1, CLU, and APOE genes in Alzheimer’s disease |
title_full |
The combined risk effect among BIN1, CLU, and APOE genes in Alzheimer’s disease |
title_fullStr |
The combined risk effect among BIN1, CLU, and APOE genes in Alzheimer’s disease |
title_full_unstemmed |
The combined risk effect among BIN1, CLU, and APOE genes in Alzheimer’s disease |
title_sort |
The combined risk effect among BIN1, CLU, and APOE genes in Alzheimer’s disease |
author |
Santos,Lígia Ramos dos |
author_facet |
Santos,Lígia Ramos dos Almeida,Jucimara Ferreira Figueiredo Pimassoni,Lúcia Helena Sagrillo Morelato,Renato Lírio Paula,Flavia de |
author_role |
author |
author2 |
Almeida,Jucimara Ferreira Figueiredo Pimassoni,Lúcia Helena Sagrillo Morelato,Renato Lírio Paula,Flavia de |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Santos,Lígia Ramos dos Almeida,Jucimara Ferreira Figueiredo Pimassoni,Lúcia Helena Sagrillo Morelato,Renato Lírio Paula,Flavia de |
dc.subject.por.fl_str_mv |
GWAS variants APOE CLU BIN1 ABCA7 |
topic |
GWAS variants APOE CLU BIN1 ABCA7 |
description |
Abstract Genome-wide associations studies (GWAS) are detecting new variants associated with late-onset of Alzheimer’s disease (LOAD), a multifactorial neurodegenerative disorder. The variants rs744373 BIN1, rs11136000 CLU and rs3764650 ABCA7 uncovered by GWAS led to different AD pathways, such as metabolism, trafficking and endocytosis of lipids and inflammation. However, most of the association studies did not replicate these variants with significance. This could be due to a small power effect evident when these variants are tested independently with LOAD. Therefore, we aimed to investigate whether the combination of different variants would additively modify the risk of association with LOAD that is observed in GWAS. We performed an association study testing pairwise variants in metabolism, trafficking and endocytosis of lipid (rs429358 and rs7412 APOE, rs744373 BIN1, rs3764650 ABCA7 and rs11136000 CLU) pathways with LOAD in samples from southeastern Brazil. Our data suggest a risk effect for LOAD between APOE with CLU and APOE with BIN1 genes. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100113 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100113 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/1678-4685-gmb-2018-0320 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
dc.source.none.fl_str_mv |
Genetics and Molecular Biology v.43 n.1 2020 reponame:Genetics and Molecular Biology instname:Sociedade Brasileira de Genética (SBG) instacron:SBG |
instname_str |
Sociedade Brasileira de Genética (SBG) |
instacron_str |
SBG |
institution |
SBG |
reponame_str |
Genetics and Molecular Biology |
collection |
Genetics and Molecular Biology |
repository.name.fl_str_mv |
Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG) |
repository.mail.fl_str_mv |
||editor@gmb.org.br |
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1752122389669347328 |