TY - JOUR
T1 - Genetic influence on scar vascularity after burn injury in individuals of European ancestry
T2 - A prospective cohort study
AU - Stevenson, Andrew W.
AU - Cadby, Gemma
AU - Wallace, Hilary J.
AU - Melton, Phillip E.
AU - Martin, Lisa J.
AU - Wood, Fiona M.
AU - Fear, Mark W.
N1 - Publisher Copyright:
© 2024
PY - 2024/9
Y1 - 2024/9
N2 - After burn injury there is considerable variation in scar outcome, partially due to genetic factors. Scar vascularity is one characteristic that varies between individuals, and this study aimed to identify genetic variants contributing to different scar vascularity outcomes. An exome-wide array association study and gene pathway analysis was performed on a prospective cohort of 665 patients of European ancestry treated for burn injury, using their scar vascularity (SV) sub-score, part of the modified Vancouver Scar Scale (mVSS), as an outcome measure. DNA was genotyped using the Infinium HumanCoreExome-24 BeadChip, imputed to the Haplotype Reference Consortium panel. Associations between genetic variants (single nucleotide polymorphisms) and SV were estimated using an additive genetic model adjusting for sex, age, % total body surface area and number of surgical procedures, utilising linear and multinomial logistic regression. No individual genetic variants achieved the cut-off threshold for significance. Gene sets were also analysed using the Functional Mapping and Annotation (FUMA) platform, in which biological processes indirectly related to angiogenesis were significantly represented. This study suggests that SNPs in genes associated with angiogenesis may influence SV, but further studies with larger datasets are essential to validate these findings.
AB - After burn injury there is considerable variation in scar outcome, partially due to genetic factors. Scar vascularity is one characteristic that varies between individuals, and this study aimed to identify genetic variants contributing to different scar vascularity outcomes. An exome-wide array association study and gene pathway analysis was performed on a prospective cohort of 665 patients of European ancestry treated for burn injury, using their scar vascularity (SV) sub-score, part of the modified Vancouver Scar Scale (mVSS), as an outcome measure. DNA was genotyped using the Infinium HumanCoreExome-24 BeadChip, imputed to the Haplotype Reference Consortium panel. Associations between genetic variants (single nucleotide polymorphisms) and SV were estimated using an additive genetic model adjusting for sex, age, % total body surface area and number of surgical procedures, utilising linear and multinomial logistic regression. No individual genetic variants achieved the cut-off threshold for significance. Gene sets were also analysed using the Functional Mapping and Annotation (FUMA) platform, in which biological processes indirectly related to angiogenesis were significantly represented. This study suggests that SNPs in genes associated with angiogenesis may influence SV, but further studies with larger datasets are essential to validate these findings.
KW - Burns
KW - Fibrosis
KW - Genes
KW - Genetics
KW - Scars
UR - http://www.scopus.com/inward/record.url?scp=85196393892&partnerID=8YFLogxK
U2 - 10.1016/j.burns.2024.05.004
DO - 10.1016/j.burns.2024.05.004
M3 - Article
C2 - 38902133
AN - SCOPUS:85196393892
SN - 0305-4179
VL - 50
SP - 1871
EP - 1884
JO - Burns
JF - Burns
IS - 7
ER -