ILDgenDB: integrated genetic knowledge resource for interstitial lung diseases (ILDs).

Area of Science:

• Pulmonary Medicine
• Genetics
• Bioinformatics

Background:

• Interstitial lung diseases (ILDs) are a complex group of pulmonary disorders with significant morbidity and mortality.
• Accurate and timely diagnosis of ILDs is challenging, particularly in developing nations.
• Genetic factors play a crucial role in the pathogenesis of ILDs.

Purpose of the Study:

• To develop ILDgenDB, the first genetic knowledge resource for ILDs.
• To provide integrated genetic data and analyses for a better understanding of ILD pathogenesis.
• To facilitate the identification of diagnostic biomarkers for ILDs.

Main Methods:

• Literature curation and bioinformatics workflows were employed to identify disease candidate genes (DCGs).
• Association analyses were performed for DCGs with microRNAs (miRNAs) and single nucleotide polymorphisms (SNPs).
• ILD-specificity index and hypergeometric test scores were incorporated for statistical significance.

Main Results:

• The ILDgenDB resource contains 299 manually verified DCGs, associated with 1932 SNPs and 2966 miRNAs.
• Significant associations between miRNAs, SNPs, and pathways involved in ILD pathogenesis were identified.
• 216 potential biomarkers were identified, and the resource facilitates graphical visualization of gene-disease interactions.

Conclusions:

• ILDgenDB provides a valuable platform for accessing and analyzing ILD genetic data.
• The findings suggest a significant role for the immune system and defense mechanisms in ILD pathogenesis.
• This resource has the potential to advance genetic-based disease monitoring and diagnosis for ILDs.