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This study explored multiallelic genetic variants associated with dementia-related TDP-43 proteinopathy using whole genome sequencing data. Several variants showed suggestive associations, particularly in genes like PLXNA4, warranting further investigation.

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Area of Science:

  • Neurogenetics
  • Genomic Medicine
  • Neuropathology

Background:

  • Previous research identified genetic links to dementia-related proteinopathies.
  • Multidimensional generalized partial credit modeling was used to create endophenotype scores for TDP-43, Ab/Tau, and alpha-synuclein neuropathology.
  • Multiallelic genetic sites, which are complex variants not easily coded with standard methods, were not previously evaluated.

Purpose of the Study:

  • To perform genome-wide multiallelic variant analyses using whole genome sequencing (WGS) data from the Alzheimer's Disease Sequencing Project (ADSP).
  • To investigate potential genetic associations with TDP-43 proteinopathy using advanced statistical modeling.

Main Methods:

  • Utilized neuropathology data from the National Alzheimer's Coordinating Center (NACC) linked to ADSP WGS data.
  • Analyzed 672,004 multiallelic variants across chromosomes 1-22 after quality filtering.
  • Employed score tests within a generalized linear model framework, adjusting for covariates, to compute global p-values.

Main Results:

  • 392 participants with both NACC neuropathology and ADSP WGS data were included.
  • Suggestively significant associations (p < 1x10^-5) were found for variants near RPRD1A, PLXNA4, an intergenic region on chromosome 6, and RGS6 with TDP-43 pathology.
  • The top associations included variants at chr18:35995261 (RPRD1A) and chr7:132612663 (PLXNA4).

Conclusions:

  • Multiallelic variants show suggestive associations with TDP-43 proteinopathy.
  • The gene PLXNA4, previously linked to Alzheimer's disease, is a notable finding.
  • Independent cohort data are needed to confirm these genetic associations.