Genetic variations underlying self-reported physical functioning: A review

M.S.Y. Thong, M.A.G. Sprangers, J.A. Sloan, D.L. Patrick, P. Yang, C.J.F. van Noorden

Research output: Contribution to journalReview articleScientificpeer-review

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.
Original languageEnglish
Pages (from-to)1163-1177
JournalQuality of Life Research
Volume24
Issue number5
DOIs
Publication statusPublished - 2015

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Genome-Wide Association Study
PubMed
Mutation
Surveys and Questionnaires

Cite this

Thong, M. S. Y., Sprangers, M. A. G., Sloan, J. A., Patrick, D. L., Yang, P., & van Noorden, C. J. F. (2015). Genetic variations underlying self-reported physical functioning: A review. Quality of Life Research, 24(5), 1163-1177. https://doi.org/10.1007/s11136-014-0844-z
Thong, M.S.Y. ; Sprangers, M.A.G. ; Sloan, J.A. ; Patrick, D.L. ; Yang, P. ; van Noorden, C.J.F. / Genetic variations underlying self-reported physical functioning : A review. In: Quality of Life Research. 2015 ; Vol. 24, No. 5. pp. 1163-1177.
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title = "Genetic variations underlying self-reported physical functioning: A review",
abstract = "PurposeGenetic 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.MethodsA 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.ResultsNineteen 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.ConclusionsAssociations 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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Thong, MSY, Sprangers, MAG, Sloan, JA, Patrick, DL, Yang, P & van Noorden, CJF 2015, 'Genetic variations underlying self-reported physical functioning: A review' Quality of Life Research, vol. 24, no. 5, pp. 1163-1177. https://doi.org/10.1007/s11136-014-0844-z

Genetic variations underlying self-reported physical functioning : A review. / Thong, M.S.Y.; Sprangers, M.A.G.; Sloan, J.A.; Patrick, D.L.; Yang, P.; van Noorden, C.J.F.

In: Quality of Life Research, Vol. 24, No. 5, 2015, p. 1163-1177.

Research output: Contribution to journalReview articleScientificpeer-review

TY - JOUR

T1 - Genetic variations underlying self-reported physical functioning

T2 - A review

AU - Thong, M.S.Y.

AU - Sprangers, M.A.G.

AU - Sloan, J.A.

AU - Patrick, D.L.

AU - Yang, P.

AU - van Noorden, C.J.F.

PY - 2015

Y1 - 2015

N2 - PurposeGenetic 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.MethodsA 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.ResultsNineteen 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.ConclusionsAssociations 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.

AB - PurposeGenetic 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.MethodsA 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.ResultsNineteen 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.ConclusionsAssociations 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.

U2 - 10.1007/s11136-014-0844-z

DO - 10.1007/s11136-014-0844-z

M3 - Review article

VL - 24

SP - 1163

EP - 1177

JO - Quality of Life Research

JF - Quality of Life Research

SN - 0962-9343

IS - 5

ER -

Thong MSY, Sprangers MAG, Sloan JA, Patrick DL, Yang P, van Noorden CJF. Genetic variations underlying self-reported physical functioning: A review. Quality of Life Research. 2015;24(5):1163-1177. https://doi.org/10.1007/s11136-014-0844-z