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Genetic variations underlying self-reported physical functioning: a review.

Melissa S Y Thong1, Mirjam A G Sprangers, Jeff A Sloan

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Genetic links to self-reported physical functioning (SPF) are underexplored. Research shows heritability of SPF is 10-30%, with genes related to neurodegeneration being most studied.

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Area of Science:

  • Genetics
  • Human Physiology
  • Biomedical Research

Background:

  • Genetic associations with self-reported physical functioning (SPF) are less studied than performance-measured physical functioning (PPF).
  • Understanding genetic contributions to SPF is crucial for targeted interventions and personalized medicine.
  • Existing research primarily focuses on specific populations, necessitating broader investigations.

Purpose of the Study:

  • To review and synthesize existing literature on genetic variations associated with SPF.
  • To provide an overview of SPF assessment methods and genetic influences, including heritability.
  • To identify research gaps and propose future directions for studying gene-SPF relationships.

Main Methods:

  • A comprehensive literature search was conducted using PubMed, Web of Science, and PsychInfo up to November 2013.
  • Inclusion criteria focused on original English articles in peer-reviewed journals reporting significant associations between SPF and the genome.
  • Studies utilizing SPF questionnaires in human subjects were prioritized.

Main Results:

  • Nineteen articles met the inclusion criteria, with the Short Form-36 questionnaire being the most common SPF assessment tool.
  • Heritability estimates for SPF ranged from 10-30%, with candidate genes linked to neurodegeneration, physiological regulation, and cell regulation.
  • The APOE gene, associated with neurodegeneration, was the most frequently studied candidate gene (n=3).

Conclusions:

  • Current research on genetic associations with SPF is limited to specific populations and a finite number of studies.
  • Future research should broaden sample diversity and integrate both SPF and performance-measured physical functioning (PPF) assessments.
  • Longitudinal study designs are recommended to establish stronger causal links between genetic factors and SPF.