rs112115472 - RBMX2P4 - ETV1

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02 - Unknown journal (n.d.) · Unknown authors · PubMed 30850646

  ABSTRACT: Frontal fibrosing alopecia (FFA) is a recently described inflammatory and scarring type of hair loss affecting almost exclusively women. Despite a dramatic recent increase in incidence the aetiopathogenesis of FFA remains unknown. We undertake genome-wide association studies in females from a UK cohort, comprising 844 cases and 3,760 controls, a Spanish cohort of 172 cases and 385 controls, and perform statistical meta-analysis. We observe genome-wide significant association with FFA at four genomic loci: 2p22.2, 6p21.1, 8q24.22 and 15q2.1. Within the 6p21.1 locus, fine-mapping indicates that the association is driven by the HLA-B*07:02 allele. At 2p22.1, we implicate a putative causal missense variant in CYP1B1, encoding the homonymous xenobiotic- and hormone-processing enzyme.

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