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Front Genet. 2020 May 07;11:461. doi: 10.3389/fgene.2020.00461. eCollection 2020.

Causal Attributions in an Australian Aboriginal Family With Marfan Syndrome: A Qualitative Study.

Frontiers in genetics

Aideen M McInerney-Leo, Jennifer West, Bettina Meiser, Malcolm West, Matthew A Brown, Emma Duncan

Affiliations

  1. Dermatology Research Centre, The University of Queensland Diamantina Institute, The University of Queensland, Brisbane, QLD, Australia.
  2. Prince Charles Hospital Clinical Unit, School of Clinical Medicine, The University of Queensland, Brisbane, QLD, Australia.
  3. Prince of Wales Clinical School, University of New South Wales, Sydney, NSW, Australia.
  4. Translational Genomics Group, Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, QLD, Australia.
  5. Guy's and St Thomas' NHS Foundation Trust and King's College London NIHR Biomedical Research Centre, London, United Kingdom.
  6. Department of Endocrinology, James Mayne Building, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.

PMID: 32457804 PMCID: PMC7221064 DOI: 10.3389/fgene.2020.00461

Abstract

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.

Copyright © 2020 McInerney-Leo, West, Meiser, West, Brown and Duncan.

Keywords: Aboriginal Australian; Marfan syndrome; causal attribution; genetics; psychosocial; qualitative

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