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Basic Science and Pathogenesis.

Jennifer A Smith1,2, Hasan Abu-Amara1, Wei Zhao1,2

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Genetic variants in Alzheimer's disease (AD) genes influence blood biomarkers like tau and amyloid beta in South Asians. This study highlights the importance of gene-based analysis for identifying unique, rare variants in diverse populations for improved AD risk assessment.

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Area of Science:

  • Genetics
  • Neuroscience
  • Biomarkers

Background:

  • Alzheimer's disease (AD) and related dementias pose a significant and growing health and economic challenge, particularly in India.
  • Blood-based biomarkers such as amyloid beta (Aß) and tau proteins are crucial indicators of AD risk and neuronal injury.
  • Investigating genetic associations with AD biomarkers in South Asians is vital for developing targeted prevention and treatment strategies in this underrepresented demographic.

Purpose of the Study:

  • To conduct gene-based analyses to identify genetic variants associated with AD biomarkers in the South Asian population.
  • To explore associations between single-nucleotide variants (SNVs) in AD-related genes and blood levels of key AD biomarkers.
  • To understand the role of both rare and common genetic variants, including those with ancestral origins unique to India, in influencing AD biomarker levels.

Main Methods:

  • Utilized the variant-Set Test for Association using Annotation infoRmation (STAAR) on data from the Longitudinal Aging Study in India (LASI-DAD; N=2,545).
  • Analyzed missense/loss-of-function SNVs and promoter/enhancer SNVs across 106 genes previously linked to AD or its biomarkers.
  • Measured seven blood biomarkers: Aß40, Aß42, Aß42/Aß40, neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), phosphorylated tau (pTau), and total tau (tTau), adjusting for demographic and genetic ancestry factors.

Main Results:

  • Identified five AD-associated genes (ICA1L, SCIMP, APOE, TSPOAP1, CLU) and one AD biomarker-associated gene (APOE) linked to pTau, Aß42/Aß40, and tTau levels via missense/LoF variants.
  • Discovered associations between AD-associated (CCDC6) and AD biomarker-associated genes (CCK, APOC1, SLIT3) and Aß40, Aß42/Aß40, and/or tTau levels through promoter/enhancer variants.
  • Highlighted rare variants in ICA1L, SCIMP, and TSPOAP1, and a common variant in CCDC6, with significant deleteriousness scores, some exhibiting ancestral origins specific to India.

Conclusions:

  • Rare and common genetic variants within AD-associated genes significantly impact blood levels of AD biomarkers in the South Asian population.
  • Gene-based analysis proves effective in identifying potentially deleterious rare variants that may be missed in other populations.
  • Findings underscore the need for population-specific genetic studies to advance AD prevention and treatment strategies.