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Genome-Wide Association Study of Post-Burn Scarring Identifies a Novel Protective Variant
Ravi F Sood*, Anne M Hocking*, Lara A Muffley*, Maricar Ga*, Shari Honari*, Alexander P Reiner*, Nicole S Gibran
UW Medicine Regional Burn Center, Harborview Medical Center, Seattle, WA

OBJECTIVE: Burn injuries and other partial-thickness wounds often lead to hypertrophic scarring (HTS), a debilitating sequela with racial predisposition that suggests a genetic mechanism. We sought to identify single-nucleotide polymorphisms (SNPs) associated with HTS.
METHODS: We conducted a genome-wide association study in a prospective cohort of adults admitted with deep-partial-thickness burns. Scar severity was assessed over time using the Vancouver Scar Scale (VSS), and DNA was genotyped with a >500,000-marker array. We performed association testing of SNPs with minor allele frequency (MAF) >0.01 using linear regression of VSS height score on genotype adjusted for patient- and injury characteristics as well as population substructure. Genome-wide significance was based on Bonferroni correction for multiple testing.
RESULTS: Of 538 patients (median age 40 years, median burn size 6.0% body surface area), 71% were male and 76% were white. The mean VSS height score was 1.2 (range: 0-3). Of 289,639 SNPs tested, a variant in the “CUB and Sushi multiple domains 1” (CSMD1) gene (rs11136645; MAF = 0.49), was significantly associated with decreased scar height (regression coefficient = -0.23, p = 7.9×10-8; Figure).
CONCLUSIONS: We report the first SNP associated with reduced severity of post-burn HTS. A common intron variant in the CSMD1 gene is associated with decreased scar height, suggesting an anti-fibrogenic effect. CSMD1 is a known tumor-suppressor implicated in colorectal cancer, underscoring the commonality of morphogenetic responses.


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