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J Burn Care Res. 2021 May 7;42(3):398-407. doi: 10.1093/jbcr/iraa161.
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Recognizing the long-term sequelae of burns as a chronic medical condition.认识到烧伤的长期后遗症是一种慢性疾病。
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为成年烧伤幸存者建立协作基因组库:烧伤模型系统可行性研究

Establishing a Collaborative Genomic Repository for Adult Burn Survivors: A Burn Model System Feasibility Study.

作者信息

Sibbett Stephen, Oh Jamie, Carrougher Gretchen, Muffley Lara, Ashford Nathaniel, Pacleb Maiya, Mandell Samuel, Schneider Jeffrey, Wolf Steven, Stewart Barclay, Gibran Nicole S

机构信息

Department of Surgery, University of Washington, Seattle, WA 98195, USA.

Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.

出版信息

Eur Burn J. 2024 Nov 6;5(4):389-398. doi: 10.3390/ebj5040034.

DOI:10.3390/ebj5040034
PMID:39727910
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11586972/
Abstract

In this study, we aimed to integrate a genetic repository with an existing longitudinal national burn database. We set out two primary objectives, namely (1) to develop standard operating procedures for genetic sample collection and storage, DNA isolation, and data integration into an existing multicenter database; and (2) to demonstrate the feasibility of correlating genetic variation to functional outcomes in a pilot study, using the catechol-O-methyltransferase (COMT) gene. Dubbed the worrier/warrior gene, COMT variants have been associated with varying phenotypes of post-traumatic stress, wellbeing, and resilience. Between August 2018 and July 2020, COMT variants were identified for 111 participants from three sites and correlated with their outcome data. We found no association between COMT variants and functional outcomes, likely due to the inadequate sample size. We also asked all potential participants why they consented to or refused genetic analysis. A thematic analysis of responses revealed altruism and personal interest/enthusiasm in the study as top reasons for consenting. Privacy concerns were the most common reason for refusal. In conclusion, we successfully developed standard operating procedures for genetic sample collection and storage, DNA isolation, and data integration into an existing database, and we demonstrated the feasibility of conducting a multicenter collaborative study using a centralized lab location.

摘要

在本研究中,我们旨在将一个基因库与现有的全国性烧伤纵向数据库整合。我们设定了两个主要目标,即:(1)制定基因样本采集与存储、DNA提取以及将数据整合到现有多中心数据库中的标准操作程序;(2)在一项试点研究中,利用儿茶酚-O-甲基转移酶(COMT)基因,证明基因变异与功能结局之间存在关联的可行性。COMT变体被称为“忧虑者/勇士”基因,它与创伤后应激、幸福感和恢复力的不同表型有关。在2018年8月至2020年7月期间,我们确定了来自三个地点的111名参与者的COMT变体,并将其与他们的结局数据进行关联。我们发现COMT变体与功能结局之间没有关联,这可能是由于样本量不足所致。我们还询问了所有潜在参与者同意或拒绝基因分析的原因。对回答的主题分析显示,利他主义以及对研究的个人兴趣/热情是同意参与的首要原因。隐私担忧是拒绝参与的最常见原因。总之,我们成功制定了基因样本采集与存储、DNA提取以及将数据整合到现有数据库中的标准操作程序,并且证明了使用集中实验室地点开展多中心合作研究的可行性。