Summary: A huge whole-genome scanning research has uncovered 16 new alleles linked to Alzheimer’s illness, expanding genomic study beyond German ancestry. Researchers analyzed data from 49, 149 people, almost half of whom were from underrepresented populations, to improve understanding of genetic chance components.
The results highlight the value of conducting research on various groups in order to predict threat more accurately and target more effective treatments. Second, researchers plan to double the test size and evaluate rare genetic variants to enhance their understanding of Alzheimer’s development.
Major Information
- New Genetic Discoveries: Scientists identified 16 tale genes linked to Alzheimer’s disease.
- Wide Representation: Nearly half of the 49, 149 study respondents were from non-European heritage.
- Potential Research: Researchers want to increase the study and examine novel gene variants to gain new insights.
Origin: Mass General
Researchers from , Mass General Brigham , have conducted a multi-ancestry, full genome sequencing organization study of Alzheimer’s disease and found evidence for 16 new vulnerability chromosomes, expanding the study of Alzheimer’s disease in underserved groups.
Their results are published in , Alzheimer ‘s , &, Dementia: The Journal of the Alzheimer’s Association.
For the study, co-led by Julian Daniel Sunday Willett, MD, PhD, and Mohammad Waqas, of the , Genetics and Aging Research Unit , and , McCance Center for Brain Health , at , Massachusetts General Hospital, a founding member of Mass General Brigham, researchers used whole-genome sequencing and a cohort of 49, 149 individuals.
The study included 12, 074 participants who were clinically diagnosed with Alzheimer’s disease and 37, 075 diagnosed due to their family history. Nearly half of the participants had non-European ancestry, and the majority were from multiple public databases. Researchers found 16 novel Alzheimer’s disease-associated genetic signals, highlighting the importance of studying diverse populations.
Next, according to co-senior author Dmitry Prokopenko, PhD, the team plans to analyze additional sets of whole genome sequencing data, with a double increase of the sample size, including a gene-based rare variant analysis. Additionally, they intend to combine the signals from novel variants within genes.
” We were pleasantly surprised to have made this discovery by expanding genetic analyses beyond populations of European ancestry to more diverse populations”, said co-senior author , Rudolph Tanzi, PhD, director of the Genetics and Aging Research Unit, the McCance Center for Brain Health, and co-director of the , Institute for Neurodegenerative Disease , at Massachusetts General Hospital.
We hope that this will enable more reliable estimates of the risk of Alzheimer’s disease and for novel pharmacological and biological treatments and prevention for people of various ancestries.
About this genetics and Alzheimer’s disease research news
Author: Brandon Chase
Source: Mass General
Contact: Brandon Chase – Mass General
Image: The image is credited to Neuroscience News
Original Research: Open access.
” Identification of 16 novel Alzheimer’s loci using multi-ancestry meta-analyses” by Julian Daniel Sunday Willett et al. Alzheimer’s &, Dementia
Abstract
Identification of 16 novel Alzheimer’s loci using multi-ancestry meta-analyses
INTRODUCTION
Alzheimer’s disease ( AD ) is the most prevalent form of dementia. While many AD-associated genetic determinants have been identified, few studies have analyzed individuals of non-European ancestry.
METHODS
We conducted a multi-ancestry genome-wide association study ( GWAS ) of clinically diagnosed AD and AD-by-proxy using whole genome sequencing data from the National Institute on Aging Genetics of Alzheimer’s Disease Data Storage Site ( NIAGADS ), National Institute of Mental Health, UK Biobank ( UKB), and All of Us ( AoU) consisting of 49, 149 cases ( 12, 074 clinically diagnosed and 37, 075 AD-by-proxy ) and 383, 225 controls. Nearly half of the participants in NIAGADS and AoU were of non-European descent.
RESULTS
For clinically diagnosed AD, we identified 14 new loci—five common ( FBN2/SCL27A6, AC090115.1, DYM, KCNG1/AL121785.1, TIAM1 ) and nine rare ( VWA5B1, RNU6-755P/LMX1A, MOB1A, MORC1-AS1, LINC00989, PDE4D, RNU2-49P/CDO1, NEO1, and SLC35G3/AC022916.1 ). Meta-analysis of UKB and AoU AD-by-proxy cases yielded two new rare loci ( RPL23/LASP1 and CEBPA/AC008738.6), also nominally significant in NIAGADS.
DISCUSSION
In summary, we provide evidence for 16 novel AD loci and advocate for more studies using whole genome sequencing–based GWAS of diverse cohorts.
