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Basic Science and Pathogenesis.

Yun Ju Ju Sung1, Anh Do2, Soomin Song2

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Summary
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This study reveals sex-specific genetic regulation of cerebrospinal fluid (CSF) proteins, uncovering distinct patterns in males and females. These findings offer new insights into the biological basis of sex differences in neurodegenerative diseases like Alzheimer's and Parkinson's.

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Area of Science:

  • Neurogenetics
  • Proteomics
  • Sex-based differences in disease

Background:

  • Sex differences are evident in Alzheimer's (AD) and Parkinson's (PD) diseases.
  • Genetic regulations for AD and PD phenotypes show sex-specific variations.
  • Sex-specific protein regulations, crucial for physiological pathways and drug targets, are understudied.

Purpose of the Study:

  • To investigate sex-specific genetic regulation of the proteome in cerebrospinal fluid (CSF).
  • To identify sex-specific protein quantitative trait loci (pQTL) in the CSF proteome.
  • To explore the association of sex-specific pQTL with AD and PD risk loci.

Main Methods:

  • Performed sex-stratified pQTL analysis on over 6000 proteins using SomaScan7K data from 1,640 males and 1,713 females.
  • Utilized approximately 13 million TOPMED imputed autosomal variants.
  • Examined pQTL significance thresholds of p < 5x10^-8 (cis) and p < 3.45x10^-11 (trans), and assessed relevance to AD and PD via colocalization and protein-wise association studies (PWAS).

Main Results:

  • Identified 1,684 significant pQTLs for 1,488 proteins across 811 genetic loci.
  • Discovered 384 pQTLs (22.8%) unique to one sex: 215 in males and 169 in females.
  • Found sex-specific regulation of AD and PD relevant loci, including APOE region proteins in AD and LRRK2 locus proteins in PD, with specific proteins (e.g., ACE, TMEM106B) colocalizing with disease risk loci in a sex-dependent manner.

Conclusions:

  • Uncovered distinct sex-specific genetic regulation of the CSF proteome through sex-stratified pQTL analysis.
  • Findings complement existing sex-aware eQTL data, providing a more comprehensive view of genetic regulation.
  • Offers insights into the biological mechanisms underlying sex differences in neurodegeneration.