DistiLD Database: diseases and traits in linkage disequilibrium blocks

Area of Science:

• Genetics
• Bioinformatics
• Genomic Epidemiology

Background:

• Genome-wide association studies (GWAS) have identified numerous single nucleotide polymorphisms (SNPs) linked to various diseases.
• Existing GWAS data lacks a centralized resource for non-specialists to explore SNP-gene relationships and chromosomal associations.

Purpose of the Study:

• To develop a database (DistiLD) that facilitates the exploration of disease-associated SNPs and genes within their chromosomal context.
• To enhance the utility of existing GWAS findings by enabling queries about SNPs in linkage disequilibrium (LD) with genes of interest.

Main Methods:

• Utilized HapMap Project data to define chromosomal regions based on linkage disequilibrium (LD) blocks.
• Projected SNPs and genes onto these LD blocks to establish spatial and genetic relationships.
• Developed a database for querying and visualizing disease-associated genetic variants and genes.

Main Results:

• Created the DistiLD database, integrating GWAS data with LD block information.
• Enabled users to identify SNPs in LD with specific genes and map disease-associated regions.
• Provided a user-friendly interface for visualizing genetic associations within chromosomal contexts.

Conclusions:

• The DistiLD database simplifies the interpretation of complex GWAS data for a broader audience.
• Facilitates the discovery of potential causal genes and genetic variants underlying disease risk.
• Promotes increased utilization and understanding of existing GWAS results.