期刊
NEUROBIOLOGY OF AGING
卷 108, 期 -, 页码 207-209出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2021.07.010
关键词
Alzheimer's disease; Candidate genes; Somatic SNVs; Multiple sequencing datasets
资金
- NIH's National Institute on Aging [R21AG045789]
- National Natural Science Foundation of China [82022024, 31970572, 31871276, 81430023, 81401059, 81361120404]
- Innovation-driven Project of Central South University [2020CX003]
- National Key R&D Project of China [2017YFC0908701]
- CSL Centenary Fellowship
- National Health and Medical Research Council (NHMRC, Australia) Investigator Grant [GNT1173711]
- National Key Plan for Scientific Research and Development of China [2016YFC1306000, 2017YFC0909100]
- Science and Technology Major Project of Hunan Province
The study reveals that somatic SNVs in the coding regions of AD-candidate genes are unlikely to be a common causal factor for SAD, as the number, VAFs, and mutational signatures of somatic SNVs in the brains of AD patients and non-AD individuals are similar.
Somatic mutations arise randomly or are induced by environmental factors, which may increase the risk of Alzheimer's disease (AD). Identifying somatic mutations in sporadic AD (SAD) may provide new insight of the disease. To evaluate the potential contribution of somatic single nucleotide variations (SNVs), particularly that of well-known AD-candidate genes, we investigated sequencing data sets from four platforms: whole-genome sequencing (WGS), deep whole-exome sequencing (WES) on paired brain and liver samples, RNA sequencing (RNA-seq), and single-cell whole-genome sequencing (scWGS) of brain samples from 16 AD patients and 16 non-AD individuals. We found that the average number, mean variant allele fractions (VAFs) and mutational signatures of somatic SNVs have similar distributions between AD brains and non-AD brains. We did not identify any somatic SNVs within coding regions of the APP, PSEN1, PSEN2, nor in APOE. This study shows that somatic SNVs within the coding region of AD-candidate genes are unlikely to be a common causal factor for SAD. (c) 2021 Elsevier Inc. All rights reserved.
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