Genetic Links to Brain Aging and Cognitive Function
Author Information
Author(s): Seshadri Sudha, DeStefano Anita L, Au Rhoda, Massaro Joseph M, Beiser Alexa S, Kelly-Hayes Margaret, Kase Carlos S, D'Agostino Ralph B Sr, DeCarli Charles, Atwood Larry D, Wolf Philip A
Primary Institution: The National Heart Lung and Blood Institute's Framingham Heart Study
Hypothesis
Studying the genetic basis for the gradient of susceptibility underlying Alzheimer's disease and stroke using endophenotypes will provide insights into the genetics of these late-onset neurological diseases.
Conclusion
Genes associated with clinical neurological disease also have detectable effects on subclinical phenotypes.
Supporting Evidence
- The strongest gene-phenotype association was found between SORL1 and abstract reasoning.
- Polymorphisms within 28 of 163 candidate genes for stroke, AD, and memory impairment were associated with the endophenotypes studied.
- Linkage of reading performance was confirmed to a marker on chromosome 18.
Takeaway
This study looked at how our genes might affect our brain health as we age, especially in relation to diseases like Alzheimer's and stroke.
Methodology
Participants underwent volumetric brain MRI and cognitive testing, and were genotyped using a genome-wide association study approach.
Potential Biases
Potential bias due to the exclusion of participants with neurological diseases and those who did not complete testing.
Limitations
The study may have a healthy survivor bias and limited power due to the sample size of related individuals.
Participant Demographics
Participants were stroke- and dementia-free Framingham Study participants, average age 62, 50% male.
Statistical Information
P-Value
3.2 × 10-6
Statistical Significance
p<0.001
Digital Object Identifier (DOI)
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