Multi-ancestry meta-analysis of keloids uncovers novel susceptibility loci in diverse populations

Catherine A. Greene, Gabrielle Hampton, James Jaworski, Megan M. Shuey, Atlas Khan, Yuan Luo, Gail P. Jarvik, Bahram Namjou-Khales, Todd L. Edwards, Digna R. Velez Edwards () and Jacklyn N. Hellwege ()
Additional contact information
Catherine A. Greene: Vanderbilt University Medical Center
Gabrielle Hampton: Vanderbilt University Medical Center
James Jaworski: Vanderbilt University Medical Center
Megan M. Shuey: Vanderbilt University Medical Center
Atlas Khan: Columbia University
Yuan Luo: Northwestern University Feinberg School of Medicine
Gail P. Jarvik: University of Washington Medical Center
Bahram Namjou-Khales: Cincinnati Children’s Hospital Medical Center (CCHMC)
Todd L. Edwards: Vanderbilt University Medical Center
Digna R. Velez Edwards: Vanderbilt University Medical Center
Jacklyn N. Hellwege: Vanderbilt University Medical Center

Nature Communications, 2025, vol. 16, issue 1, 1-13

Abstract: 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 7837 cases and 1,593,009 controls. We detected 26 loci in the multi-ancestry analysis, 12 of which replicated in an independent dataset. 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, nine in skin and fibroblasts. Pathway analyses 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.

Date: 2025
References: Add references at CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/s41467-025-62945-x Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:16:y:2025:i:1:d:10.1038_s41467-025-62945-x

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/s41467-025-62945-x

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().