Gene
SPINK5 (LEKTI)
1 variant(s) documented across Chronic Rhinosinusitis with Nasal Polyps
Variants
| Variant | Type | Frequency in disease | Significance | Also found in |
|---|---|---|---|---|
| Missense and regulatory variants | germline | Candidate gene association | SPINK5 encodes a serine protease inhibitor critical for epithelial barrier integrity. Variants lead to increased protease activity and barrier disruption. | Netherton syndrome (Causative (biallelic)); Atopic dermatitis (Associated) |
Clinical implications
Missense and regulatory variants
Supports epithelial barrier defect as primary pathogenic event.
Testing: candidate gene sequencing
Related hypotheses
Epigenetic reprogramming by environmental exposures shapes disease susceptibility
30emerging·25 studies
Sources (1)
G4Kowalski ML et al. (2019) Epithelial barrier genes SPINK5 and PCDH1 in CRSwNP susceptibility