التفاصيل البيبلوغرافية
| العنوان: |
Key variants via the Alzheimer's Disease Sequencing Project whole genome sequence data |
| المؤلفون: |
Wang, Yanbing, Sarnowski, Chloé, Lin, Honghuang, Pitsillides, Achilleas N., Heard‐Costa, Nancy L., Choi, Seung Hoan, Wang, Dongyu, Bis, Joshua C., Blue, Elizabeth E., Boerwinkle, Eric, De Jager, Philip L., Fornage, Myriam, Wijsman, Ellen M., Seshadri, Sudha, Dupuis, Josée, Peloso, Gina M., DeStefano, Anita L. |
| المساهمون: |
National Institute on Aging |
| المصدر: |
Alzheimer's & Dementia ; ISSN 1552-5260 1552-5279 |
| بيانات النشر: |
Wiley |
| سنة النشر: |
2024 |
| المجموعة: |
Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: |
INTRODUCTION Genome‐wide association studies (GWAS) have identified loci associated with Alzheimer's disease (AD) but did not identify specific causal genes or variants within those loci. Analysis of whole genome sequence (WGS) data, which interrogates the entire genome and captures rare variations, may identify causal variants within GWAS loci. METHODS We performed single common variant association analysis and rare variant aggregate analyses in the pooled population ( N cases = 2184, N controls = 2383) and targeted analyses in subpopulations using WGS data from the Alzheimer's Disease Sequencing Project (ADSP). The analyses were restricted to variants within 100 kb of 83 previously identified GWAS lead variants. RESULTS Seventeen variants were significantly associated with AD within five genomic regions implicating the genes OARD1 / NFYA / TREML1 , JAZF1 , FERMT2 , and SLC24A4 . KAT8 was implicated by both single variant and rare variant aggregate analyses. DISCUSSION This study demonstrates the utility of leveraging WGS to gain insights into AD loci identified via GWAS. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1002/alz.13705 |
| الإتاحة: |
https://doi.org/10.1002/alz.13705Test |
| حقوق: |
http://creativecommons.org/licenses/by-nc-nd/4.0Test/ |
| رقم الانضمام: |
edsbas.CABA109 |
| قاعدة البيانات: |
BASE |
