MADRID (EFE).— A team of scientists discovered seventeen new genetic variants associated with Alzheimer’s disease, a finding that will help better understand this neurodegenerative disease and discover new biological pathways on which to base future treatments and prevention measures.
The study, whose results were published yesterday in “Alzheimer’s & Dementia: The Journal of the Alzheimer’s Association,” used whole genome sequencing to locate specific genes and genetic changes of interest in genetic regions associated with Alzheimer’s.
The research, led by the Boston University School of Public Health and the UTHealth School of Public Health in Houston, identified seventeen genetic variants that may influence the risk of developing Alzheimer’s and that are located in five genomic regions.
In Spain alone, the disease affects 700,000 people over 40 years of age and it is expected that by 2050 that number will skyrocket to two million (13 million in the case of the United States).
“Whole genome sequence data interrogate every base pair in the human genome and can provide more information regarding what specific genetic change in a region may be contributing to risk or protection from Alzheimer’s disease,” explains Anita DeStefano, PhD. co-author of the work and professor of biostatistics at the Boston University.
To do the research, the team analyzed the association of single variants and tested for association of aggregation of rare variants using whole genome sequencing data from the Alzheimer’s Disease Sequencing Project (ADSP), a genetics initiative developed in the United States. United in 2012 to treat evil.
The ADSP data includes more than 95 million variants among 4,567 participants with or without the disease and of various ethnicities (white, black and Hispanic), an important data given that, historically, black and Latino populations have been underrepresented in studies genetic causes of Alzheimer’s, despite having a higher prevalence of the disease than other ethnic groups.
“By using whole genome sequencing in a diverse sample, we were able to not only identify new genetic variants associated with disease risk in known genetic regions, but also characterize whether known and new associations are shared between populations,” says Chloé Sarnowski. , co-director and author of the study and a researcher at UTHealth Houston.
“Including participants who represent diverse genetic ancestry and diverse backgrounds in terms of social determinants of health is important to understanding the full spectrum of Alzheimer’s risk, as both disease prevalence and variant frequencies Genetics may differ between populations,” emphasizes DeStefano.
Among the 17 significant variants that were linked to Alzheimer’s disease, the KAT8 variant is one of the most notable, as it was associated with the disease in both the single variant and rare variant analyses. The researchers also found associations with several rare TREM2 variants.
In future studies, the team hopes to examine the population-specific variants they identified in much larger sample sizes, as well as explore how these variants affect biological functioning.
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2024-04-10 10:40:34
