Raised scars that outgrow the original wound, mapped by a 2025 multi-ancestry study of nearly 1.6 million people — which found the genetic risk itself differs sharply by ancestry.
Keloids are raised scars that grow beyond the boundaries of the original wound, causing pain and disfigurement. Why they form is not well understood, and current treatment options are limited. They occur more often in darker-skinned people of African and Asian descent than in people of European descent.
A 2025 study in Nature Communications ran a genome-wide association study of keloid risk across and within continental ancestry groups: 7,837 people with keloids against 1,593,009 controls. It found 26 risk loci in the combined multi-ancestry analysis, 12 of which replicated in an independent dataset — nearly quintupling the number of keloid risk loci known before this study. Seven of those loci are catalogued here: rs34647667 (near ITGA11), rs921721 (near TRIB1), rs76024540 (near SLC67A1), rs686722 (LSP1), rs6726716 (BABAM2), rs2242026 (near NME8), and rs11632096 (NEDD4).
Heritability estimates from the same study varied sharply by ancestry group: 6% in the European analysis, 21% in the East Asian analysis, and 34% in the African analysis — a pattern consistent with keloids being clinically more common in darker-skinned populations. Gene-expression and colocalization analyses identified 27 gene-tissue pairs linked to the risk loci, nine of them in skin and fibroblast tissue specifically, and pathway analysis pointed to integrin signaling and regulators involved in cancer, fibrosis, and sex hormone signaling.
Positions joined since this page was written
What this is The text above discusses the variants this page was written around. Since then the catalogue has joined 7 more positions to it, by shared trait or shared paper. They are listed here by the paper each came from; the text does not describe them, and each variant page carries that study's own record.
Greene CA et al. 2025, Nature communications rs4239705 (near RPS11P1), rs6091310 (near NFATC2), rs6476838 (GLIS3) — PMID:40835838
Ishigaki K et al. 2020, Nature genetics rs192314256 (PHLDA3), rs2378519 (near LINC01705) — PMID:32514122
Nakashima M et al. 2010, Nature genetics rs873549 (near LINC01705) — PMID:20711176
Verma A et al. 2024, Science (New York, N.Y.) rs536701773 (CSF2RB) — PMID:39024449
Keloids are diagnosed by clinical examination, not genotype. These seven variants are risk-locus findings from a large multi-ancestry study, not a diagnostic test, and current treatment options remain limited regardless of a person's genotype at these loci.
The study's pathway analysis — implicating integrin signaling and fibrosis-, cancer-, and sex-hormone-related regulators — points at biological processes worth investigating further, not an established mechanism a clinician can act on today.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Keloid comes down to these specific, well-studied positions — not a diagnosis.
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Keloid. MyGeneLog™. https://www.mygenelog.com/conditions/keloid
A keloid is a raised scar that grows beyond the boundaries of the original wound, causing pain and disfigurement. Why keloids form is not well understood.
Yes. Keloids occur more often in darker-skinned people of African and Asian descent than in people of European descent — a 2025 multi-ancestry study found heritability estimates of 34%, 21%, and 6% for African, East Asian, and European ancestry respectively.
No. The 2025 study behind this page found 26 risk loci in total; this page catalogues seven of them.
Free to reuse. This page's text is original writing from freely-available research, licensed CC BY 4.0 — reuse it, including commercially, with attribution to MyGeneLog™. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.