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In 2020, 5.
8 million Americans will suffer from Alzheimer's disease (AD)
.
By 2050, this number is expected to grow to 13.
But there is a lot of evidence that AD is a highly hereditary disease
These studies have found rare and highly permeable mutations in autosomal dominant AD
In order to study the genetic pathological changes of AD, experts from the Taub Alzheimer's Disease and Brain Aging Institute at Columbia University in New York City further analyzed the data results of the LOAD family study
.
The results were published in the journal Alzheimer & Dementia
The focus of the study was to recruit families with two living affected siblings and a third-degree relative of similar age with or without dementia
.
A unified assessment was completed for all participants, DNA was obtained, and neuropathological examinations were performed when possible
The results showed that APOE genotype changed the age of onset in many large families
.
New variants and known variants related to early-onset and late-onset AD and frontotemporal dementia have been discovered and support the current discovery of AD genetics
APOE genotype changed the age of onset in many large families
Then using data from 992 families, the researchers confirmed the results of BIN1, CLU, CR1, and APOE seen in unrelated people, and discovered a new gene CUGBP2 in APOE ε4 carriers
.
Due to the small sample size, variants of these households do not have statistical significance, but found a mutation in CD2AP and EPHA1 change, the AD and several large-scale meta-analysis contributed
The researchers confirmed the results of BIN1, CLU, CR1, and APOE seen in unrelated people, and discovered a new gene CUGBP2 in APOE ε4 carriers
NIA-LOAD FBS is the world's largest collection of familial AD.
references:
The National Institute on Aging Late-Onset Alzheimer's Disease Family Based Study: A resource for genetic discovery.
The National Institute on Aging Late-Onset Alzheimer's Disease Family Based Study: A resource for genetic discovery.
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