Genetic influence on scar height and pliability after burn injury in individuals of European ancestry: A prospective cohort study

After similar extent of injury there is considerable variability in scarring between individuals, in part due to genetic factors. This study aimed to identify genetic variants associated with scar height and pliability after burn injury. An exome-wide array association study and gene pathway analysi...

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Main Authors: Wallace, H., Cadby, G., Melton, Phillip, Wood, F., Falder, S., Crowe, M., Martin, L., Marlow, K., Ward, S., Fear, M.
Format: Journal Article
Published: Pergamon Press 2018
Online Access:http://hdl.handle.net/20.500.11937/73995
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author Wallace, H.
Cadby, G.
Melton, Phillip
Wood, F.
Falder, S.
Crowe, M.
Martin, L.
Marlow, K.
Ward, S.
Fear, M.
author_facet Wallace, H.
Cadby, G.
Melton, Phillip
Wood, F.
Falder, S.
Crowe, M.
Martin, L.
Marlow, K.
Ward, S.
Fear, M.
author_sort Wallace, H.
building Curtin Institutional Repository
collection Online Access
description After similar extent of injury there is considerable variability in scarring between individuals, in part due to genetic factors. This study aimed to identify genetic variants associated with scar height and pliability after burn injury. An exome-wide array association study and gene pathway analysis were performed on a prospective cohort of 665 patients treated for burn injury. Outcomes were scar height (SH) and scar pliability (SP) sub-scores of the modified Vancouver Scar Scale (mVSS). DNA was genotyped using the InfiniumĀ® HumanCoreExome-24 BeadChip. Associations between genetic variants (single nucleotide polymorphisms) and SH and SP were estimated using an additive genetic model adjusting for age, sex, number of surgical procedures and % total body surface area of burn in subjects of European ancestry. No individual genetic variants achieved the cut-off threshold of significance. Gene regions were analysed for spatially correlated single nucleotide polymorphisms and significant regions identified using comb-p software. This gene list was subject to gene pathway analysis to find which biological process terms were over-represented. Using this approach biological processes related to the nervous system and cell adhesion were the predominant gene pathways associated with both SH and SP. This study suggests genes associated with innervation may be important in scar fibrosis. Further studies using similar and larger datasets will be essential to validate these findings.
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spelling curtin-20.500.11937-739952019-07-16T05:56:19Z Genetic influence on scar height and pliability after burn injury in individuals of European ancestry: A prospective cohort study Wallace, H. Cadby, G. Melton, Phillip Wood, F. Falder, S. Crowe, M. Martin, L. Marlow, K. Ward, S. Fear, M. After similar extent of injury there is considerable variability in scarring between individuals, in part due to genetic factors. This study aimed to identify genetic variants associated with scar height and pliability after burn injury. An exome-wide array association study and gene pathway analysis were performed on a prospective cohort of 665 patients treated for burn injury. Outcomes were scar height (SH) and scar pliability (SP) sub-scores of the modified Vancouver Scar Scale (mVSS). DNA was genotyped using the InfiniumĀ® HumanCoreExome-24 BeadChip. Associations between genetic variants (single nucleotide polymorphisms) and SH and SP were estimated using an additive genetic model adjusting for age, sex, number of surgical procedures and % total body surface area of burn in subjects of European ancestry. No individual genetic variants achieved the cut-off threshold of significance. Gene regions were analysed for spatially correlated single nucleotide polymorphisms and significant regions identified using comb-p software. This gene list was subject to gene pathway analysis to find which biological process terms were over-represented. Using this approach biological processes related to the nervous system and cell adhesion were the predominant gene pathways associated with both SH and SP. This study suggests genes associated with innervation may be important in scar fibrosis. Further studies using similar and larger datasets will be essential to validate these findings. 2018 Journal Article http://hdl.handle.net/20.500.11937/73995 10.1016/j.burns.2018.10.027 Pergamon Press restricted
spellingShingle Wallace, H.
Cadby, G.
Melton, Phillip
Wood, F.
Falder, S.
Crowe, M.
Martin, L.
Marlow, K.
Ward, S.
Fear, M.
Genetic influence on scar height and pliability after burn injury in individuals of European ancestry: A prospective cohort study
title Genetic influence on scar height and pliability after burn injury in individuals of European ancestry: A prospective cohort study
title_full Genetic influence on scar height and pliability after burn injury in individuals of European ancestry: A prospective cohort study
title_fullStr Genetic influence on scar height and pliability after burn injury in individuals of European ancestry: A prospective cohort study
title_full_unstemmed Genetic influence on scar height and pliability after burn injury in individuals of European ancestry: A prospective cohort study
title_short Genetic influence on scar height and pliability after burn injury in individuals of European ancestry: A prospective cohort study
title_sort genetic influence on scar height and pliability after burn injury in individuals of european ancestry: a prospective cohort study
url http://hdl.handle.net/20.500.11937/73995