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Basic Science and Pathogenesis.

Songmi Lee1, Adam C English2, Rui Xia1

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This summary is machine-generated.

Rare structural variants (SVs) may play a role in Alzheimer's Disease (AD). This study identified SVs in diverse populations, with suggestive associations found in specific genes across European, African, and Latin American subgroups. Further research with larger sample sizes is needed for confirmation.

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Area of Science:

  • Genomics
  • Neurodegenerative Diseases
  • Bioinformatics

Background:

  • Structural variants (SVs) are large genomic alterations (>50 bp) impacting gene function, but their role in Alzheimer's Disease (AD) is not well understood.
  • Investigating rare SVs (<1% MAF) offers a novel approach to uncover genetic contributions to AD.

Purpose of the Study:

  • To identify and characterize rare structural variants (SVs) in a large, diverse cohort from the Alzheimer's Disease Sequencing Project (ADSP).
  • To investigate the gene-based association of these rare SVs with Alzheimer's Disease (AD).

Main Methods:

  • Utilized a novel SV calling pipeline (Biograph) on 17K whole genome sequences from the ADSP.
  • Performed gene-based association analyses of 194,744 deletions, 151,858 insertions, and 10,388 inversions in 11,890 individuals (5,585 AD cases, 6,305 controls).
  • Employed logistic mixed-effects models (GMMAT) incorporating burden tests and SKAT, adjusting for population structure and covariates, with Bonferroni correction for significance (p < 6 x 10^-6).

Main Results:

  • Identified suggestive, though not statistically significant, associations between rare SVs and AD across different population subgroups (European, African, Latin American).
  • Observed potential associations in genes such as ACLY (EUR), PARP10 (AFR), ENDOV (LAT), RPL8 (meta-analysis), and SSPN (pooled analysis).
  • No gene-based tests reached the stringent Bonferroni-corrected significance threshold.

Conclusions:

  • Rare structural variants (SVs) may contribute to the genetic architecture of Alzheimer's Disease (AD).
  • Suggestive associations highlight potential candidate genes warranting further investigation.
  • Larger sample sizes are crucial for validating these findings and confirming the role of SVs in AD pathogenesis.