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

IF 3.2 3区医学 Q2 CRITICAL CARE MEDICINE Burns Pub Date : 2024-05-14 DOI:10.1016/j.burns.2024.05.004

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Abstract

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.

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遗传对欧洲人烧伤后疤痕血管的影响：前瞻性队列研究

烧伤后的疤痕结果差异很大，部分原因是遗传因素。疤痕血管性是因人而异的特征之一，本研究旨在确定导致不同疤痕血管性结果的基因变异。研究人员对 665 名接受过烧伤治疗的欧洲血统患者进行了外显子全阵列关联研究和基因通路分析，并将改良温哥华疤痕量表（mVSS）中的疤痕血管性（SV）子评分作为结果测量指标。使用 Infinium HumanCoreExome-24 BeadChip 对 DNA 进行基因分型，并将其归入单体型参考联盟面板。基因变异（单核苷酸多态性）与 SV 之间的关系是通过线性和多项式逻辑回归，利用加性遗传模型进行估计的，该模型对性别、年龄、体表总面积百分比和手术次数进行了调整。没有单个基因变异达到显著性临界值。此外，还利用功能图谱和注释（FUMA）平台对基因组进行了分析，其中与血管生成间接相关的生物过程得到了显著体现。这项研究表明，与血管生成相关的基因中的 SNPs 可能会影响 SV，但要验证这些发现，还必须使用更大的数据集进行进一步研究。

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来源期刊

Burns 医学-皮肤病学

CiteScore

4.50

自引率

18.50%

发文量

304

审稿时长

72 days

期刊介绍： Burns aims to foster the exchange of information among all engaged in preventing and treating the effects of burns. The journal focuses on clinical, scientific and social aspects of these injuries and covers the prevention of the injury, the epidemiology of such injuries and all aspects of treatment including development of new techniques and technologies and verification of existing ones. Regular features include clinical and scientific papers, state of the art reviews and descriptions of burn-care in practice. Topics covered by Burns include: the effects of smoke on man and animals, their tissues and cells; the responses to and treatment of patients and animals with chemical injuries to the skin; the biological and clinical effects of cold injuries; surgical techniques which are, or may be relevant to the treatment of burned patients during the acute or reconstructive phase following injury; well controlled laboratory studies of the effectiveness of anti-microbial agents on infection and new materials on scarring and healing; inflammatory responses to injury, effectiveness of related agents and other compounds used to modify the physiological and cellular responses to the injury; experimental studies of burns and the outcome of burn wound healing; regenerative medicine concerning the skin.