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Basic Science and Pathogenesis.

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Summary
This summary is machine-generated.

Ancestry-informed fine-mapping identified rs6733839 in BIN1 as a likely causative variant for early-onset Alzheimer's Disease (EOAD). This regulatory variant is shared across European and African ancestries, highlighting the power of multi-ancestry analysis.

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Area of Science:

  • Genetics
  • Neuroscience
  • Population Genetics

Background:

  • Genome-wide association studies (GWAS) identify numerous variants for complex traits, necessitating statistical fine-mapping to pinpoint causal variants.
  • Ancestry-informed fine-mapping enhances resolution by leveraging genomic diversity, particularly smaller linkage disequilibrium (LD) blocks in African populations.
  • Early-onset Alzheimer's Disease (EOAD) is a complex trait where identifying causative variants is crucial for understanding disease etiology.

Purpose of the Study:

  • To perform cross-ancestry fine-mapping on top loci from a transethnic meta-analysis of non-Mendelian EOAD.
  • To identify population-specific causative variants contributing to EOAD by utilizing ancestry-specific summary statistics.
  • To refine the genetic architecture of EOAD by integrating data from European (NHW) and African American (AA) ancestries.

Main Methods:

  • Employed MESuSiE for multi-ancestry fine-mapping, modeling shared and ancestry-specific causal variants.
  • Utilized individual ancestry-specific summary statistics from NHW (6,282 cases, 13,386 controls) and AA (782 cases, 3,663 controls) populations.
  • Followed up prioritized loci using whole-genome sequencing (WGS) data from the Alzheimer's Disease Sequencing Project (ADSP) in NHW (N=6,225) and AA (N=4,376) individuals.

Main Results:

  • Identified rs6733839, a regulatory variant in BIN1, as the most likely causative variant for EOAD at a key locus (transethnic EOAD GWAS p-value: 1.73E-10).
  • This variant (rs6733839) is suggested to be shared across NHW and AA populations, with strong posterior imputation probabilities (PIP EUR_AFR: 0.99).
  • Observed a narrower associated haplotype in the AA population compared to NHW, consistent with smaller LD blocks in African ancestry, enabling more precise localization of the causal variant.

Conclusions:

  • Multi-ancestry fine-mapping successfully pinpointed rs6733839 as a likely causative variant for non-Mendelian EOAD.
  • The findings indicate that rs6733839 plays a role in EOAD etiology across both European and African ancestries.
  • Demonstrated the significant value of ancestry-informed fine-mapping approaches for discovering population-specific causal variants in complex diseases like Alzheimer's.