Genome-wide meta-analysis of pilonidal sinus disease and its genetic overlap with hidradenitis suppurativa, hair patterning and adiposity

Genome-wide meta-analysis of pilonidal sinus disease in 7,868 cases and 1.6 million controls identifies 19 novel loci and a strong genetic correlation with hidradenitis suppurativa (rg = 0.76).

• Why it matters: PSD is familial and recurrent, yet few risk loci are known and its shared genetic basis with hidradenitis suppurativa, hair patterning, and obesity remains unclear.
• What they did: Using public genome-wide summary statistics from Million Veteran Program, UK Biobank, FinnGen, and Genes & Health across four ancestry groups, the study meta-analysed loci outside the MHC and performed fine-mapping, heritability estimation, and genetic correlation/colocalisation analyses.
• The result: Fine-mapping resolved SOX2, PDE9A, and KLF5 to single likely causal variants and linked WNT10A p.(Phe228Ile) to reduced risk; PSD’s BMI correlation (rg = 0.33) vanished after modelling HS, while a male-pattern balding component and shared HS loci remained.

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