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Related Concept Videos

Blood Studies for Cardiovascular System I: Cardiac Biomarkers01:20

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Cardiac biomarkers are enzymes, proteins, and hormones released into the blood when cardiac cells are injured. They are powerful tools for triaging.
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Cardiac biomarkers are critical in diagnosing, prognosing, and managing cardiovascular diseases. Routine measurement of specific biomarkers such as B-type natriuretic peptide (BNP), C-reactive protein (CRP), and homocysteine (Hcy) is common practice in clinical settings to evaluate heart function and predict cardiovascular events.
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Dried Blood Spot Collection of Health Biomarkers to Maximize Participation in Population Studies
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Biomarkers.

Snehal Pandya1, Matteo De Marco1, Annalena Venneri1,2

  • 1Brunel University London, London, United Kingdom.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 24, 2025
PubMed
Summary
This summary is machine-generated.

Polygenic risk scores (PRS) for Alzheimer's disease (AD) are linked to brain structure changes, particularly in the hippocampus and amygdala. PRS may aid in diagnosing AD by identifying specific brain volume alterations.

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Area of Science:

  • Neuroscience
  • Genetics
  • Medical Imaging

Background:

  • Sporadic Alzheimer's disease (AD) comprises over 90% of cases, with genetic factors playing a significant role.
  • Investigating polygenic risk scores (PRS) offers insights into gene-gene interactions influencing AD-related brain changes.
  • Understanding genetic contributions to AD is crucial for developing effective diagnostic and therapeutic strategies.

Purpose of the Study:

  • To examine the association between polygenic risk scores (PRS) for Alzheimer's disease (AD) and regional grey matter volume.
  • To explore how PRS, incorporating or excluding APOE, relates to brain structure in different participant groups.
  • To determine the potential of PRS as a biomarker for AD diagnosis.

Main Methods:

  • Utilized data from 738 participants in the Alzheimer's Disease Neuroimaging Initiative (ADNI).
  • Constructed two sets of PRS (PRSwithAPOE and PRSwithoutAPOE) using three different single nucleotide polymorphism (SNP) thresholds.
  • Processed T1-weighted MRI scans to extract volumes of 114 brain regions of interest using SPM12.

Main Results:

  • PRS including APOE (PRSwithAPOE) correlated with bilateral hippocampal and amygdala volumes across all participants.
  • Stratified analyses revealed PRSwithAPOE associations with specific regional volumes in cognitively unimpaired, MCI, and AD groups.
  • Amyloid-positive individuals showed PRSwithAPOE associations with hippocampal, amygdala, and middle occipital gyrus volumes.

Conclusions:

  • Polygenic risk scores for AD are associated with regional grey matter volumes characteristic of the disease.
  • The inclusion of APOE SNPs significantly influences the observed associations between PRS and brain structure.
  • PRS, particularly PRSwithAPOE, may serve as a valuable tool for differentiating AD patients from those with mild cognitive impairment or normal cognition.