ArticleBMC medical genomics2017
Association analysis of rare variants near the APOE region with CSF and neuroimaging biomarkers of Alzheimer's disease.
Article in BMC medical genomics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 50 citations in OpenAlex.
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- Bioinformatics pipeline to guide post-GWAS studies in Alzheimer's: A new catalogue of disease candidate short structural variants.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023Article
- Classification and deep-learning-based prediction of Alzheimer disease subtypes by using genomic data.Translational psychiatry · 2023Article
- Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases.NPJ Parkinson's disease · 2023Article
- Large multi-ethnic genetic analyses of amyloid imaging identify new genes for Alzheimer disease.Acta neuropathologica communications · 2023Article
- Revelation of Pivotal Genes Pertinent to Alzheimer's Pathogenesis: A Methodical Evaluation of 32 GEO Datasets.Journal of molecular neuroscience : MN · 2022Article
- Powerful gene-based testing by integrating long-range chromatin interactions and knockoff genotypes.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease.Nature genetics · 2021Article
- TOMM40 '523' poly-T repeat length is a determinant of longitudinal cognitive decline in Parkinson's disease.NPJ Parkinson's disease · 2021Article
- RelB and Neuroinflammation.Cells · 2021Review
- Association of Uncommon, Noncoding Variants in the APOE Region With Risk of Alzheimer Disease in Adults of European Ancestry.JAMA network open · 2020Article
- CRL4-Cereblon complex in Thalidomide Embryopathy: a translational investigation.Scientific reports · 2020Article
- Two-stage Bayesian GWAS of 9576 individuals identifies SNP regions that are targeted by miRNAs inversely expressed in Alzheimer's and cancer.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2020Article
- Association of Genes Involved in the Metabolic Pathways of Amyloid-β and Tau Proteins With Sporadic Late-Onset Alzheimer's Disease in the Southern Han Chinese Population.Frontiers in aging neuroscience · 2020Article
- Identifying progressive imaging genetic patterns via multi-task sparse canonical correlation analysis: a longitudinal study of the ADNI cohort.Bioinformatics (Oxford, England) · 2019Article
- Rare variants in the splicing regulatory elements of EXOC3L4 are associated with brain glucose metabolism in Alzheimer's disease.BMC medical genomics · 2018Article
- Evolution of Translational Bioinformatics: lessons learned from TBC 2016.BMC medical genomics · 2017Article
- DNA methylation in peripheral blood leukocytes in late onset Alzheimer's disease.Journal of Alzheimer's disease reportsArticle
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18 authors at 9 institutions in 1 country.
Funding
Abstract
backgroundThe APOE ε4 allele is the most significant common genetic risk factor for late-onset Alzheimer's disease (LOAD). The region surrounding APOE on chromosome 19 has also shown consistent association with LOAD. However, no common variants in the region remain significant after adjusting for APOE genotype. We report a rare variant association analysis of genes in the vicinity of APOE with cerebrospinal fluid (CSF) and neuroimaging biomarkers of LOAD.
methodsWhole genome sequencing (WGS) was performed on 817 blood DNA samples from the Alzheimer's Disease Neuroimaging Initiative (ADNI). Sequence data from 757 non-Hispanic Caucasian participants was used in the present analysis. We extracted all rare variants (MAF (minor allele frequency) < 0.05) within a 312 kb window in APOE's vicinity encompassing 12 genes. We assessed CSF and neuroimaging (MRI and PET) biomarkers as LOAD-related quantitative endophenotypes. Gene-based analyses of rare variants were performed using the optimal Sequence Kernel Association Test (SKAT-O).
resultsA total of 3,334 rare variants (MAF < 0.05) were found within the APOE region. Among them, 72 rare non-synonymous variants were observed. Eight genes spanning the APOE region were significantly associated with CSF Aβ
conclusionsRare variants within genes spanning the APOE region are significantly associated with LOAD-related CSF Aβ
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