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01.05.2015 | Review

Genetic variations underlying self-reported physical functioning: a review

verfasst von: Melissa S. Y. Thong, Mirjam A. G. Sprangers, Jeff A. Sloan, Donald L. Patrick, Ping Yang, Cornelis J. F. van Noorden

Erschienen in: Quality of Life Research | Ausgabe 5/2015

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Abstract

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 peer-reviewed 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 neurodegeneration, 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.

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Titel: Genetic variations underlying self-reported physical functioning: a review
verfasst von: Melissa S. Y. Thong
Mirjam A. G. Sprangers
Jeff A. Sloan
Donald L. Patrick
Ping Yang
Cornelis J. F. van Noorden
Publikationsdatum: 01.05.2015
Verlag: Springer International Publishing
Erschienen in: Quality of Life Research / Ausgabe 5/2015
Print ISSN: 0962-9343
Elektronische ISSN: 1573-2649
DOI: https://doi.org/10.1007/s11136-014-0844-z

Springer Medizin

Abstract

Purpose

Methods

Results

Conclusions

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