Scientists have discovered new genetic variants that could be linked to Alzheimer's, bringing fresh hope for a possible cure.
Researchers in the US discovered 17 genetic strains that might affect the risk of developing Alzheimer's, the most common type of dementia affecting over 55 million people worldwide. This breakthrough was made using whole genome sequencing and identified the significant variants with Alzheimer's disease in five genomic regions. The discovery could lead to new ways to treat and prevent this brain-wasting disease.
Alzheimer's is the fifth leading cause of death among those aged 65 and older in the US, currently affecting over six million Americans. This number is expected to nearly double to 13 million by 2050. In the UK, over 920,000 people are affected by Alzheimer's and other forms of dementia, a figure predicted to reach two million by 2050. Globally, cases are set to triple beyond 150 million.
The study, published in the Alzheimer's Association's journal, has helped researchers identify rare and important genes and variants, adding to studies that focus only on common variants and regions. Dr Anita DeStefano, a professor of biostatistics at Boston University School of Public Health (BUSPH), said: "Prior genome-wide association studies using common variants have identified regions of the genome, and sometimes genes, that are associated with Alzheimer's disease."
The discovery has raised hopes of finding a cure (Getty Images/iStockphoto)"Whole genome sequence data interrogates every base pair in the human genome and can provide more information about which specific genetic change in a region may be contributing to Alzheimer's disease risk or protection." The BUSPH team conducted single variant association analyses and rare variant aggregation association tests using whole genome sequencing data from the Alzheimer's Disease Sequencing Project (ADSP), set up by the National Institutes of Health in 2012 as part of efforts to treat and prevent the disease.
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The ADSP data included more than 95 million variants among 4,567 participants with or without the disease. Among the 17 significant variants linked with Alzheimer's disease, one called KAT8 was particularly notable, as it was associated with the disease in both the single and rare variant analyses.
The researchers also found associations with several rare variants called TREM2 variants. rare variants called TREM2 variants. Chloé Sarnowski, PhD, assistant professor in the Department of Epidemiology at UTHealth Houston School of Public Health, said: "By using whole genome sequencing in a diverse sample, we were able to not only identify novel genetic variants associated with Alzheimer's disease risk in known genetic regions, but also characterise whether the known and novel associations are shared across populations," she explained.
The ADSP study is really cool because it includes people from lots of different backgrounds, like White/European, Black/African-American, and Hispanic/Latino folks, and they even did a special check to see how everyone's results compared. For a long time, Black and Latino people haven't been included much in studies about Alzheimer's, which isn't fair because they're more likely to get the disease than other groups.
"Including participants that represent diverse genetic ancestry and diverse environments in terms of social determinants of health is important to understanding the full spectrum of Alzheimer's disease risk, as both the prevalence of the disease and the frequencies of genetic variants can differ among populations," added Dr DeStefano, another clever scientist working on the study.
She mentioned that the research had a small number of people in it, which made it hard to find links: "We replicated known population differences for the APOE gene, which is one of the best-known and strongest risk genes for Alzheimer's disease." The scientists want to look at these special variants they found in more people in the future. They also want to see how these variants change the way our bodies work.
"We are currently working on expanding this research to be able to use whole genome sequencing with larger sample sizes in the ADSP to be able to look at the full array of genetic variants, not only within known Alzheimer's disease genetic regions, but across the whole genome," Dr Gina Peloso, who helps lead the study and teaches about numbers that help us understand health, said.
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