McInerney-Leo Aideen M, West Jennifer, Meiser Bettina, West Malcolm, Brown Matthew A, Duncan Emma
Dermatology Research Centre, The University of Queensland Diamantina Institute, The University of Queensland, Brisbane, QLD, Australia.
Prince Charles Hospital Clinical Unit, School of Clinical Medicine, The University of Queensland, Brisbane, QLD, Australia.
Front Genet. 2020 May 7;11:461. doi: 10.3389/fgene.2020.00461. eCollection 2020.
Causal attributions are important determinants of how health threats are processed and affect health-related behaviors. To date, there has been no research on causal attributions in genetic conditions in Aboriginal Australians. Forty members of a large Aboriginal Australian family with Marfan syndrome (MFS) were invited to participate in an ethically approved study exploring causal attributions, including perceived causes of phenotypic variability within the family. Eighteen individuals consented to conduct semi-structured qualitative interviews, which were recorded, transcribed verbatim and analyzed thematically. Most participants knew that MFS was genetic, but there were diverse theories about inheritance, including beliefs that it skipped generations, was affected by birth order and/or gender, and that it co-occurred with inheritance of blue eyes within this family. The mutation was thought to have been inherited from British settlers and initially triggered by disease or diet. Factors believed to modify disease severity included other genes and lifestyle factors, particularly alcohol and substance abuse and stress. Generally, this family did not endorse "blaming" chance or a higher power for phenotypic variability, though some felt that the spirits or a deity may have played a role. In conclusion, although participants knew MFS was a genetic condition, many speculated about the role of non-genetic causes in initiating the original mutation; and the gene-environment interaction was thought to affect severity. This study demonstrates a successful approach for exploring causal attributions in other genetic conditions in First Australians.
因果归因是健康威胁如何被认知以及影响健康相关行为的重要决定因素。迄今为止,尚未有关于澳大利亚原住民遗传疾病因果归因的研究。一个患有马凡综合征(MFS)的澳大利亚大型原住民家庭的40名成员受邀参与一项经伦理批准的研究,该研究探讨因果归因,包括家庭内部表型变异的感知原因。18名个体同意进行半结构化定性访谈,访谈进行了录音、逐字转录并进行主题分析。大多数参与者知道MFS是遗传性疾病,但对于遗传方式存在多种理论,包括认为它会隔代遗传、受出生顺序和/或性别的影响,以及在这个家庭中它与蓝眼睛的遗传同时发生。人们认为该突变是从英国定居者那里遗传而来的,最初是由疾病或饮食引发的。被认为会改变疾病严重程度的因素包括其他基因和生活方式因素,特别是酗酒、药物滥用和压力。总体而言,这个家庭并不认同将表型变异归咎于运气或更高力量,不过有些人觉得灵魂或神灵可能起到了一定作用。总之,尽管参与者知道MFS是一种遗传疾病,但许多人推测非遗传因素在引发最初突变中所起的作用;并且认为基因与环境的相互作用会影响疾病严重程度。这项研究展示了一种探索澳大利亚原住民其他遗传疾病因果归因的成功方法。