TOLLIP and MUC5B SNPs in Interstitial Lung Disease Patients from Western India

200 patients with interstitial lung disease (ILD) and 104 healthy controls from Western India were genotyped for six single nucleotide polymorphisms (SNPs) in TOLLIP and MUC5B genes. The study, authored by Tanya Athavale and last updated in April 2026, measured serum cytokine levels and analyzed linkage disequilibrium, providing the first population-specific genetic data for Indian ILD patients.

Use Cases

• Assessing genetic susceptibility to ILD subtypes based on TOLLIP and MUC5B allele frequencies.
• Investigating genotype-phenotype correlations by linking SNP data to serum cytokine levels like IFN-γ.
• Comparing genetic risk profiles between Indian and Western ILD patient cohorts.
• Identifying patient subgroups that may benefit from targeted therapies like NAC based on genotype.

Strengths

• Includes a case-control cohort of 200 ILD patients and 104 healthy controls.
• Genotypes six specific SNPs (TOLLIP rs3750920, rs111521887, rs5743890, rs5743894, rs5743854, MUC5B rs35705950).
• Provides associated biomarker data for four serum cytokines (IL-1β, TNF-α, IFN-γ, IL-6).
• Offers first population-specific data on these genetic variants for an Indian cohort.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Data is limited to a specific geographic region (Western India) and a modest sample size.

Provenance

Source

figshare, author Tanya Athavale.

Collection Method

Cross-sectional study using Sanger sequencing, PCR-RFLP, and multiplex bead-based immunoassay.

Time Range

null

Freshness

Last updated 2026-04-14 05:28:43; freshness should be verified.

Geography

Western India