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The following is a summary of “A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathways,” published in the December 2024 issue of Dermatology by Andersen et al.
The role of genetic and environmental risk factors in hidradenitis suppurativa (HS) remains largely unclear.
Researchers conducted a retrospective study to identify sequence variants associated with HS and evaluate the contribution of environmental risk factors and inflammatory diseases to its pathogenesis.
They conducted a genome-wide association meta-analysis involving 4,814 cases of HS, distributed across Denmark (1,977), Iceland (1,266), Finland (800), the UK (569), and the US (202), alongside 1.2 million controls. The analysis aimed to identify sequence variants linked to HS.
The results showed 8 independent sequence variants were associated with HS, including 6 common variants and 2 rare ones (frequency <1%), 4 of the associations implicated candidate causal genes—NCSTN, PSENEN, WNT10A, and TMED10—all of which were involved in the Notch and Wnt/β-catenin signaling pathways, playing a role in epidermal keratinization.
Investigators concluded the genetic factors influencing epidermal keratinization played a pivotal role in the pathogenesis of HS.
Source: jaad.org/article/S0190-9622(24)03292-4/fulltext
