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New Study Finds Genetic Deletion Linked to Lower Alzheimer's Risk in African Americans

Researchers have identified a genetic variant that may protect against Alzheimer's disease in people of African descent.

Illustration: Blue Dot News

1 min read

In a surprising twist, scientists have uncovered a genetic protection against Alzheimer's disease that is unique to African Americans. Research has focused on the APOE gene, which is known to be a major risk factor for the disease. However, the presence of African ancestry appears to mitigate this risk.

A team of researchers identified a specific deletion within the APOE gene that reduces the likelihood of developing Alzheimer's disease. This 19 bp deletion is found in approximately 60% of individuals who carry the APOE-ε4 genotype and are of African American descent. The study also found that this deletion delays the onset of Alzheimer's disease in those with the APOE-ε4/ε4 genotype.

This groundbreaking discovery highlights a previously unknown protective mechanism against Alzheimer's disease, one that is specific to individuals of African ancestry. It underscores the complex interplay between genetics and ethnicity in the development of this devastating disease, and offers new hope for prevention and treatment strategies tailored to this vulnerable population.

The people behind the work

  • Brutman JN et al.

    Author

    Published in Nature communications

Source: Nature communications

Sources & Verification

Every statement in this story is drawn from the facts below. Each is linked to a primary or reputable source — follow any citation to check it for yourself.

  1. The APOE-ε4/ε4 genotype is the strongest genetic risk factor for sporadic Alzheimer's disease, though the relative risk is diminished in individuals with African ancestry. Nature communications
  2. Through analysis of phased APOE alleles, we identify a 19 bp deletion approximately 1.1 kb distal to the APOE 3'UTR in a SPI1 microglial transcription factor binding site. Nature communications
  3. The deletion is present in 60% of African American APOE-ε4 homozygotes and reduces Alzheimer's disease odds ratio relative to individuals without the deletion. Nature communications
  4. The deletion also delays Alzheimer's disease onset in APOE-ε4/ε4 cases with local African ancestry at APOE. Nature communications
  5. The All of Us dataset confirms reduced Alzheimer´s disease risk associated with the deletion and identifies additional variants between APOE and APOC1 that disentangle APOE-ε4 neurological and lipid-related phenotypes. Nature communications
  6. Functional assays reveal that the 19 bp deletion abolishes SPI1 repression at this region. Nature communications
  7. Collectively, these findings describe a protective allele at APOE in African Americans that mediates APOC1 expression, reducing relative Alzheimer´s disease risk. Nature communications

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