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This summary reviews the evidence linking CAMP, a gene encoding the cathelicidin antimicrobial peptide, with psoriasis (MONDO_0005083). The association has been primarily investigated through candidate gene association studies that screen multiple genes within the T helper type 17 (Th17) pathway. These studies provide early insights into the genetic underpinnings of psoriasis in diverse populations.
One study analyzed 208 psoriasis patients and 266 controls, evaluating 31 single nucleotide polymorphisms (SNPs) across 12 genes and providing statistical support for associations in the Th17 pathway (PMID:27774581). A second study employed a proprietary SNPClinic approach to evaluate 203 common SNPs in proximal promoters of 22 psoriasis-associated genes, identifying predicted regulatory SNPs in CAMP among others (PMID:33898962).
Although these studies interrogated multiple candidates simultaneously, the evidence for CAMP is based on predicted regulatory SNPs that were validated in public eQTL databases. No specific HGVS‐formatted coding variant for CAMP has been detailed in these reports, and segregation data (e.g., additional affected relatives) were not provided. As such, the genetic contribution of CAMP to psoriasis remains quantitatively modest at this stage.
The functional data pertaining to CAMP are currently limited. While in silico analyses and eQTL correlations suggest that regulatory perturbations of CAMP may influence keratinocyte proliferation and immune cell polarization, no direct experimental assays, animal model studies, or rescue experiments have been reported to strengthen the functional link to psoriasis pathology.
The overall gene–disease association is thus best characterized as Limited, given the modest sample sizes, absence of detailed segregation analysis, and the lack of conclusive functional validation. The genetic evidence is similarly Limited, as the predicted regulatory SNPs in CAMP require further independent replication and functional characterization.
In conclusion, while preliminary candidate gene association studies support a potential role for CAMP in psoriasis, both the genetic and functional evidence remain limited. This association, nonetheless, may inform future research efforts aimed at companion diagnostics and targeted therapeutics in psoriasis.
Key take‑home: Despite current limitations, the emerging data on CAMP’s regulatory variation in psoriasis offer a promising basis for future studies that could enhance diagnostic decision‑making and therapeutic development.
Gene–Disease AssociationLimitedEvidence derives from candidate gene association studies with modest sample sizes (208 patients [PMID:27774581] and analysis of 203 SNPs [PMID:33898962]), but lacks robust segregation and comprehensive functional data. Genetic EvidenceLimitedPredicted regulatory SNPs in CAMP have been identified in multi-patient studies; however, no specific coding variant (HGVS formatted) or extended segregation data have been reported. Functional EvidenceLimitedIn silico predictions and eQTL database correlations provide only preliminary functional insights without direct experimental validation such as functional assays or in vivo models. |