Paper
Multi-ancestry meta-analysis of keloids uncovers novel susceptibility loci in diverse populations
Published Jan 31, 2025 · C. A. Greene, G. Hampton, J. Jaworski
medRxiv : the preprint server for health sciences
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Abstract
Keloids are raised scars that grow beyond original wound boundaries, resulting in pain and disfigurement. Reasons for keloid development are not well-understood, and current treatment options are limited. Keloids are more likely to occur in darker-skinned individuals of African and Asian descent than in Europeans. We performed a genome-wide association study (GWAS) examining keloid risk across and within continental ancestry groups, incorporating 7,837 cases and 1,593,009 controls. We detected 21 novel independent loci in the multi-ancestry analysis, including several previously associated with fibroproliferative disorders. Heritability estimates were 6%, 21%, and 34% for the European, East Asian, and African ancestry analyses, respectively. Genetically predicted gene expression and colocalization analyses identified 27 gene-tissue pairs, including nine in skin and fibroblasts. Pathway analysis implicated integrin signaling and upstream regulators involved in cancer, fibrosis, and sex hormone signaling. This investigation nearly quintuples the number of keloid-associated risk loci, illuminating biological processes in keloid pathology.
This study identified 21 novel keloid-associated risk loci across diverse populations, shedding light on biological processes in keloid pathology.
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