Researchers have identified 17 novel genetic variants associated with Alzheimer’s disease in five genomic regions.
- Previous studies show that genetics may play a
role in the development of Alzheimer’s disease.
- Researchers recently added to this concept by
identifying 17 genetic variants associated with Alzheimer’s disease in
five genomic regions.
- The findings included genetic variant data from
ethnic groups historically underrepresented in genetic studies regarding
Alzheimer’s.
Over the past few years,
more research has supported the idea that
Now, researchers from the
Boston University School of Public Health and The University of Texas Health
Science Center at Houston further add to this concept with new research that
has identified 17
The study was recently
published in the journal
While
scientists are still not completely sure what causes Alzheimer’s
disease, most believe it develops from a combination of factors including
genetics, age-related changes in the brain, and certain lifestyle and
environmental factors.
Over the last few years,
more research has been uncovering how genetics might play a role in the
development of Alzheimer’s disease.
For example, a study
published in April 2022 identified
Research published in
February 2023 discovered a genetic variant often found in people of
A study published in
September 2023 reported a genetic mutation within the
“There are limited drugs
currently available to treat Alzheimer’s disease, and none have high efficacy,”
Dr. Anita DeStefano, professor of biostatistics at Boston University School of
Public Health (BUSPH) and lead author of this study, explained to Medical News
Today.
“There are currently no
therapeutics that prevent Alzheimer’s disease. Understanding the genetic
factors that influence (the) risk for Alzheimer’s disease or protection from
Alzheimer’s disease provides new biological insights that can lead to the
identification of novel drug targets to facilitate the development of new
therapeutic approaches.”
— Dr. Anita DeStefano, lead
study author
17 new genetic
variants identified
For this study,
researchers used
Scientists had access to
information on more than 95 million genetic variants from almost 4,600 people
with or without Alzheimer’s disease.
After analyzing the data,
study researchers uncovered 17 significant variants associated with Alzheimer’s
disease located in five genomic regions.
“Many recent studies of
Alzheimer’s disease genetics are
“These regions will contain
hundreds of genes and thousands of variants, and we won’t initially know which
gene or change in the gene is biologically relevant.”
“Whole genome sequence data
provides information on every change (variation) in the DNA sequence of the
study participants and enables us to refine the information from GWAS studies
as well as make novel discoveries.
One analogy is to compare
the DNA sequence in the human genome to the string of letters that make up a
book. Earlier GWAS studies identified common ‘spelling errors’ and brought us
to the specific pages where important errors occurred but did not identify
every letter that changed or was missing. With whole genome sequencing, we are
looking at every letter on the page and more comprehensively understanding all
the changes and ‘spelling errors.'”
— Dr. Chloé Sarnowski, corresponding study author
KAT8 genetic
variant and Alzheimer’s risk
One of the most
notable genetic variants, the scientists reported, was the lysine
acetyltransferase 8 (
Past studies show the KAT8
is important for cerebral development and
may play a role in the development of
Additionally, through the
ADSP database, the research team had access to genetic variant data from a wide
range of ethnicities, including
“Historically, the vast
majority of individuals included in genetic studies of Alzheimer’s disease have
been of European ancestry,” Dr. DeStefano said.
“We know that (the)
prevalence of Alzheimer’s disease varies across population groups, with
African-Americans having a higher prevalence. So to understand the full
spectrum of Alzheimer’s disease risk it is important for studies to represent
diverse genetic ancestry and diverse environments in terms of social
determinants of health.”
‘Major advance’
for future Alzheimer’s treatments
MNT spoke
about this study with Dr. Karen D. Sullivan, a
board certified neuropsychologist, owner of I CARE FOR YOUR BRAIN, and Reid
Healthcare Transformation Fellow at FirstHealth of the Carolinas in Pinehurst,
NC.
Dr. Sullivan called this
research a “major advance” that puts science-based interventions one
significant step closer to a breakthrough treatment for Alzheimer’s disease.
“I am also impressed that
the researchers purposefully sought out ethnically diverse participants as
communities of color have historically been underrepresented in genetic studies
of Alzheimer’s disease despite their high incidence,” she continued.
“As Alzheimer’s disease is
the most common subtype of dementia and a rapidly aging society, we are really
in a race against time to find more effective treatments,” Dr. Sullivan added.
“The
Dr. Sullivan said she would
like to see this research’s findings extended to much larger sample sizes and
the variants linked to their respective expressions or
“For example, what impact
does the KAT8 variant, associated with Alzheimer’s disease in both the single
and rare variant analyses, have on the specific cognitive and behavior changes
in these groups?
We always must remember
that brain structure and function don’t have a 1-to-1 relationship — much like
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