Genome-wide meta-analysis in lichen sclerosus identifies 14 genomic risk loci - PubMed
5 hours ago
- #genetics
- #GWAS
- #lichen sclerosus
- Genome-wide meta-analysis identifies 14 genomic risk loci for lichen sclerosus (LS).
- LS is a chronic inflammatory dermatosis primarily affecting genital skin in both sexes.
- Study includes 6,681 female and 970 male LS cases from European biobanks (UK Biobank, HUNT, FinnGen).
- HLA-DRB1*12:01 strongly associated with LS susceptibility in both females (OR=2.54) and males (OR=2.30).
- 12 additional loci identified in females, including a protein-altering variant in IGFLR1 (rs140952221).
- Colocalization with eQTLs suggests dysregulated expression of CD247, IL2RB, and ALDH2 in LS pathogenesis.
- Shared genetic effects between sexes observed, with diluted effect sizes in males.
- Combined-sex meta-analysis reveals an additional risk locus at chromosome 5p13.2.
- Findings highlight immune-inflammatory and metabolic pathways as potential drug targets.