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Basic Science and Pathogenesis.

Yining Liu1, Yeunjoo E Song2, Weihuan Wang1

  • 1Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA.

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Summary
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Researchers identified rare variants (RVs) linked to cognitive preservation in Amish individuals. These findings may help explain the genetic basis of Alzheimer Disease (AD) and identify protective factors.

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Area of Science:

  • Genetics
  • Neuroscience
  • Population Studies

Background:

  • Cognitive preservation in high-risk older adults remains poorly understood.
  • Rare variants (RVs) may contribute to the missing heritability of Alzheimer Disease (AD).
  • Founder populations, like the Amish, can enrich RVs, facilitating genetic discovery.

Purpose of the Study:

  • To identify RVs and associated genes linked to cognitive preservation.
  • To leverage whole genome sequencing (WGS) data from the Amish population.
  • To investigate the genetic underpinnings of cognitive resilience in aging.

Main Methods:

  • Whole genome sequencing (WGS) of 868 Amish individuals (518 cognitively unimpaired, 350 cognitively impaired).
  • Gene-based genome-wide RV association tests comparing cognitively unimpaired (CU) vs. cognitively impaired (CI) status.
  • Analysis of coding RVs using SKAT-O and non-coding RVs using STAARpipeline, accounting for covariates.

Main Results:

  • Suggestive associations found for coding RVs in B3GNT9 and RANBP10 genes (p < 6.59x10-5).
  • Three missense RVs with moderate protein impact were identified.
  • A suggestive signal also emerged from 14 RVs in the promoter region of C1QL4 (p < 7.00x10-6).

Conclusions:

  • Gene-based genome-wide RV association analyses revealed suggestive links to cognitive preservation in the Amish.
  • RVs show potential in uncovering the complete genetic architecture of AD.
  • Further research into these RVs could identify novel therapeutic targets for AD.