The combined risk effect among BIN1, CLU, and APOE genes in Alzheimer’s disease
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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Sociedade Brasileira de Genética
2020
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oai:scielo:S1415-475720200001001132020-03-13The combined risk effect among BIN1, CLU, and APOE genes in Alzheimer’s diseaseSantos,Lígia Ramos dosAlmeida,Jucimara Ferreira FigueiredoPimassoni,Lúcia Helena SagrilloMorelato,Renato LírioPaula,Flavia de GWAS variants APOE CLU BIN1 ABCA7 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.info:eu-repo/semantics/openAccessSociedade Brasileira de GenéticaGenetics and Molecular Biology v.43 n.1 20202020-01-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100113en10.1590/1678-4685-gmb-2018-0320 |
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Santos,Lígia Ramos dos Almeida,Jucimara Ferreira Figueiredo Pimassoni,Lúcia Helena Sagrillo Morelato,Renato Lírio Paula,Flavia de |
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Santos,Lígia Ramos dos Almeida,Jucimara Ferreira Figueiredo Pimassoni,Lúcia Helena Sagrillo Morelato,Renato Lírio Paula,Flavia de The combined risk effect among BIN1, CLU, and APOE genes in Alzheimer’s disease |
author_facet |
Santos,Lígia Ramos dos Almeida,Jucimara Ferreira Figueiredo Pimassoni,Lúcia Helena Sagrillo Morelato,Renato Lírio Paula,Flavia de |
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Santos,Lígia Ramos dos |
title |
The combined risk effect among BIN1, CLU, and APOE genes in Alzheimer’s disease |
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 |
combined risk effect among bin1, clu, and apoe genes in alzheimer’s disease |
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. |
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Sociedade Brasileira de Genética |
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2020 |
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http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100113 |
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