Genetic variations underlying self-reported physical functioning: a review

• Published in: Quality of life research 2015-05, Vol.24 (5), p.1163-1177
• Main Authors: Thong, Melissa S. Y., Sprangers, Mirjam A. G., Sloan, Jeff A., Patrick, Donald L., Yang, Ping, van Noorden, Cornelis J. F.
• Format: Article
• Language: English
• Subjects: Ability; Activities of daily living; Adult; Aged; Biomarkers; Cellular Senescence; Consortia; Disease; Female; Gene expression; Genetic Variation; Genetics; Genome-Wide Association Study; Genomes; Humans; Longitudinal Studies; Male; Males; Medicine; Medicine & Public Health; Motor Activity - genetics; Mutation; Neurodegenerative Diseases - genetics; Pain; Physical Fitness; Physiology; Public Health; Quality of Life; Quality of Life Research; Questionnaires; REVIEW; Self Report; Sociology; Surveys and Questionnaires; Twin studies; Twins
• ISSN: 0962-9343; 1573-2649
• DOI: 10.1007/s11136-014-0844-z

Purpose Genetic associations with self-reported physical functioning (SPF) are less well-studied than genetic associations with performance-measured physical functioning (PPF). We review the literature on the associations of genetic variations on SPF. We provide an overview of SPF assessment, genetic contributions to SPF including heritability, effects of genetic variations and mutations, and effects of interventions on the gene-SPF relationship. We also aim to provide directions for future research. Methods A computerized literature search using PubMed, Web of Science, and PsychInfo was conducted to select relevant literature published up to November 2013. Inclusion criteria were the use of an SPF questionnaire, original articles in English on human subjects, published in peerreviewed journals and reporting significant associations between SPF and the genome. Results Nineteen articles were included. SPF was commonly assessed with the Short Form-36 questionnaire involving mainly convenience samples of either older persons or chronically ill. Heritability estimates were 10-30 %. Candidate genes associated with SPF could be ascribed to biological pathways associated with neurode-generation, physiological systems regulation, or cell regulation. The APOE gene associated with neurodegeneration was most studied (n = 3). Three papers included both SPF and PPF assessments. No genome-wide association study on SPF has been conducted. Conclusions Associations between SPF and the genome have been investigated in selected populations in a limited number of publications. Future research should consider increasing sample variation and incorporate both SPF and PPF assessments. Also, longitudinal studies should be conducted in order to elicit stronger conclusions regarding the genetic associations with SPF.