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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Spatial2GWAS: a database for linking spatial transcriptomic regions with GWAS traits.

Xi Hu1, Aoqi Wang1, Huan Yu1

  • 1West China Biomedical Big Data Center, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P.R. China.

Nucleic Acids Research
|October 22, 2025
PubMed
Summary
This summary is machine-generated.

This study introduces spatial2GWAS, a database linking spatial transcriptomic regions with genome-wide association study (GWAS) traits. It reveals how tissue gene expression patterns influence complex diseases and identifies potential therapeutic targets.

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Area of Science:

  • Genomics
  • Systems Biology
  • Bioinformatics

Background:

  • Spatial heterogeneity in gene expression impacts biological functions and disease pathogenesis.
  • Systematic associations between spatially resolved transcriptomics and phenotypes, particularly in complex diseases, are underexplored.

Purpose of the Study:

  • To develop spatial2GWAS, a comprehensive resource linking spatial transcriptomic (ST) regions with genome-wide association study (GWAS) traits.
  • To enable systematic exploration of spatial mechanisms underlying complex traits and provide insights into region-specific biological functions and therapeutic targets.

Main Methods:

  • Collected 1196 ST slices (human and mouse) across five technologies and 812 GWAS traits.
  • Identified 29,701 ST slice-GWAS trait pairs with 47,492 significant regions.
  • Performed functional analyses on cell type composition, gene expression, pathway activation, and cell-cell communication.

Main Results:

  • Distinct patterns of cell type composition, gene expression, and pathway activation were observed between trait-related and unrelated spatial regions.
  • Spatial2GWAS provides a user-friendly interface for visualization and advanced queries.
  • The database bridges ST data with high-level phenotypes, advancing understanding of tissue heterogeneity.

Conclusions:

  • Spatial2GWAS facilitates the systematic investigation of spatial mechanisms in complex traits.
  • The resource aids in understanding tissue heterogeneity's role in complex human diseases.
  • Identified region-specific biological functions and potential therapeutic targets.