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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.

Skylar Walters1, Derek B Archer1, Kwangsik Nho2

  • 1Vanderbilt Memory & Alzheimer's Center, Vanderbilt University Medical Center, Nashville, TN, USA.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 26, 2025
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Summary
This summary is machine-generated.

This study identified novel sex-specific genetic effects influencing hippocampal volume, a key marker for Alzheimer's disease (AD) risk. Findings highlight genetic predictors and sex differences in brain imaging biomarkers for AD.

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Area of Science:

  • Neuroimaging Genetics
  • Alzheimer's Disease Research
  • Brain Aging

Background:

  • Hippocampal volume is a critical in vivo imaging biomarker for Alzheimer's disease (AD) risk and progression.
  • Previous studies indicate accelerated hippocampal atrophy in females with increasing AD pathology.
  • Genome-wide association studies (GWAS) for hippocampal volume have largely excluded sex-specific genetic analyses.

Purpose of the Study:

  • To investigate the sex-specific genetic architecture of hippocampal volume across multiple aging and AD cohorts.
  • To identify genetic loci associated with hippocampal volume, considering sex-specific effects and interactions.

Main Methods:

  • Analysis of 5,523 non-Hispanic White participants from eight aging and AD cohorts.
  • Segmentation of hippocampal volume and estimated total intracranial volume (eTIV) from T1-weighted MRIs.
  • Genome-wide association studies (GWAS) performed at baseline and longitudinally, with sex-stratified and sex-interaction models, followed by meta-analysis.

Main Results:

  • Identified three genome-wide significant genetic loci associated with hippocampal volume.
  • A novel locus on chromosome 14 near AKAP6 showed significant sex-specific effects on hippocampal volume change over time, primarily in females.
  • A previously reported AD risk variant near SHARPIN on chromosome 8 demonstrated significant effects on hippocampal volume in males but not females.

Conclusions:

  • Extended findings of a known AD risk variant (near SHARPIN) to hippocampal volume.
  • Provided evidence for novel sex-specific genetic effects influencing hippocampal volume.
  • Results underscore the importance of considering genetic predictors and sex differences in neuroimaging biomarkers for AD.