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Burns. 2019 May;45(3):567-578. doi: 10.1016/j.burns.2018.10.027. Epub 2018 Dec 27.

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

Author information

1
Burn Injury Research Unit, School of Biomedical Sciences, Faculty of Health and Medical Sciences, The University of Western Australia, Perth, Australia; School of Medicine, The University of Notre Dame Australia, Fremantle, Australia. Electronic address: hilary.wallace@nd.edu.au.
2
Centre for Genetic Origins of Health and Disease, Faculty of Health and Medical Sciences, The University of Western Australia and Faculty of Health Science, Curtin University, Perth, Australia.
3
Centre for Genetic Origins of Health and Disease, Faculty of Health and Medical Sciences, The University of Western Australia and Faculty of Health Science, Curtin University, Perth, Australia; School of Pharmacy and Biomedical Sciences, Faculty of Health Science, Curtin University, Perth, Australia.
4
Burn Injury Research Unit, School of Biomedical Sciences, Faculty of Health and Medical Sciences, The University of Western Australia, Perth, Australia; Burns Service of Western Australia, Princess Margaret Hospital for Children and Fiona Stanley Hospital, Perth, Australia.
5
Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
6
Burns Service of Western Australia, Princess Margaret Hospital for Children and Fiona Stanley Hospital, Perth, Australia.
7
Burn Injury Research Unit, School of Biomedical Sciences, Faculty of Health and Medical Sciences, The University of Western Australia, Perth, Australia.

Abstract

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 Infinium® 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.

KEYWORDS:

Burns; Fibrosis; Genes; Genetics; Scars

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