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http://conacyt.repositorioinstitucional.mx/jspui/handle/1000/465| Considering the APOE locus in polygenic scores for Alzheimer's disease | |
| Jessica D Faul Colter Mitchell Kelly M Bakulski Erin B Ware | |
| Novel Coronavirus | |
| Acceso Abierto | |
| Atribución-NoComercial-SinDerivadas | |
| 10.1101/2019.12.10.19014365 | |
| Polygenic scores are a strategy to aggregate the small, additive effects of single nucleotide polymorphisms across the genome. With phenotypes like Alzheimer's disease, which have a strong and well established genomic locus ( APOE ), the cumulative effect of genetic variants outside of this area has not been well established in a population-representative sample. Here we examine the association between polygenic scores both with and without the APOE region at different P value thresholds. We also investigate the addition of APOE-ε4 carrier status and its effect on the polygenic score - dementia association. We found that including the APOE region through weighted variants in a polygenic score was insufficient to capture the large amount of risk attributed to this region. We recommend removing this region from polygenic score calculation and treating the APOE locus as an independent covariate. ### Competing Interest Statement The authors have declared no competing interest. ### Funding Statement This work was supported by grants from the National Institutes of Health (NIA R01 AG055406, NIA RF1 AG055654, NIMHD R01 MD011716). ### Author Declarations All relevant ethical guidelines have been followed; any necessary IRB and/or ethics committee approvals have been obtained and details of the IRB/oversight body are included in the manuscript. Yes All necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines and uploaded the relevant EQUATOR Network research reporting checklist(s) and other pertinent material as supplementary files, if applicable. Yes All data from these analyses are available through the Health and Retirement Study (https://hrs.isr.umich.edu/) or the database of genotypes and phenotypes (dbGaP https://www.ncbi.nlm.nih.gov/gap/, phs000428.v2.p2). <https://www.niagads.org/datasets/ng00075> <https://www.ncbi.nlm.nih.gov/gap/> <https://hrs.isr.umich.edu/> | |
| Cold Spring Harbor Laboratory Press | |
| 2019 | |
| Preimpreso | |
| https://www.medrxiv.org/content/10.1101/2019.12.10.19014365v1 | |
| Inglés | |
| VIRUS RESPIRATORIOS | |
| Aparece en las colecciones: | Artículos científicos |
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|---|---|---|---|
| Considering the APOE.pdf | 897.61 kB | Adobe PDF | Visualizar/Abrir |