دورية أكاديمية

The combined risk effect among BIN1, CLU, and APOE genes in Alzheimer’s disease

التفاصيل البيبلوغرافية
العنوان: The combined risk effect among BIN1, CLU, and APOE genes in Alzheimer’s disease
المؤلفون: Santos, Lígia Ramos dos, Almeida, Jucimara Ferreira Figueiredo, Pimassoni, Lúcia Helena Sagrillo, Morelato, Renato Lírio, Paula, Flavia de
المصدر: Genetics and Molecular Biology. January 2020 43(1)
بيانات النشر: Sociedade Brasileira de Genética, 2020.
سنة النشر: 2020
مصطلحات موضوعية: GWAS variants, APOE, CLU, BIN1, ABCA7
الوصف: 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.
نوع الوثيقة: article
وصف الملف: text/html
اللغة: English
تدمد: 1415-4757
DOI: 10.1590/1678-4685-gmb-2018-0320
URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100113
حقوق: info:eu-repo/semantics/openAccess
رقم الأكسشن: edssci.S1415.47572020000100113
قاعدة البيانات: SciELO
الوصف
تدمد:14154757
DOI:10.1590/1678-4685-gmb-2018-0320