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Basic Science and Pathogenesis.

Maulikkumar P Patel1,2, Arda Cetin1,2, Matthew Johnson1,2

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This study identified four genetic modifiers influencing Alzheimer disease risk in autosomal dominant Alzheimer disease (ADAD) mutation carriers. These findings offer insights for future clinical trials and genetic counseling for ADAD.

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Area of Science:

  • Genetics
  • Neuroscience
  • Biomarkers

Background:

  • Autosomal dominant Alzheimer disease (ADAD) shows variable clinical presentation despite highly penetrant mutations.
  • Genetic variants may modify disease risk and presentation in ADAD.
  • Investigating genetic modifiers is crucial for understanding ADAD heterogeneity.

Purpose of the Study:

  • To identify common genetic variants that modify Alzheimer disease (AD) risk in ADAD mutation carriers.
  • To explore the impact of identified genetic loci on age at onset and cerebrospinal fluid biomarkers.

Main Methods:

  • Genome-wide association study (GWAS) in 101 ADAD participants and 5,050 controls.
  • Logistic regression for AD risk, linear regression for age at onset and biomarker analysis.
  • Kaplan-Meier survival analysis and segregation analysis within families.

Main Results:

  • Four genome-wide significant loci associated with AD risk were identified.
  • A CNIH4 locus variant (p.Gly54Ser) was associated with AD risk.
  • A CCNG1 locus variant reduced age at AD onset by approximately 8 years.
  • A RHOJ locus variant correlated with altered AD cerebrospinal fluid biomarkers (tTau, pTau181, Aβ42/40).

Conclusions:

  • Four genetic modifiers influencing ADAD risk and presentation were identified.
  • These findings provide insights into AD pathogenesis and potential therapeutic targets.
  • Results support the role of common genetic variants in modulating rare disease phenotypes.