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Biological pathways, candidate genes, and molecular markers associated with quality-of-life domains: an update

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Abstract

Background

There is compelling evidence of a genetic foundation of patient-reported quality of life (QOL). Given the rapid development of substantial scientific advances in this area of research, the current paper updates and extends reviews published in 2010.

Objectives

The objective was to provide an updated overview of the biological pathways, candidate genes, and molecular markers involved in fatigue, pain, negative (depressed mood) and positive (well-being/happiness) emotional functioning, social functioning, and overall QOL.

Methods

We followed a purposeful search algorithm of existing literature to capture empirical papers investigating the relationship between biological pathways and molecular markers and the identified QOL domains.

Results

Multiple major pathways are involved in each QOL domain. The inflammatory pathway has the strongest evidence as a controlling mechanism underlying fatigue. Inflammation and neurotransmission are key processes involved in pain perception, and the catechol-O-methyltransferase (COMT) gene is associated with multiple sorts of pain. The neurotransmitter and neuroplasticity theories have the strongest evidence for their relationship with depression. Oxytocin-related genes and genes involved in the serotonergic and dopaminergic pathways play a role in social functioning. Inflammatory pathways, via cytokines, also play an important role in overall QOL.

Conclusions

Whereas the current findings need future experiments and replication efforts, they will provide researchers supportive background information when embarking on studies relating candidate genes and/or molecular markers to QOL domains. The ultimate goal of this area of research is to enhance patients’ QOL.

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Acknowledgments

We thank Prof. Dick Swaab for his suggestion to devise a table presenting the biological pathways and genes that are involved in the different QOL domains (Table 7).

Author information

Authors and Affiliations

  1. Department of Medical Psychology/J3-211, Academic Medical Center, University of Amsterdam, Meibergdreef 15, 1105 AZ, Amsterdam, The Netherlands

    Mirjam A. G. Sprangers & Melissa S. Y. Thong

  2. Center of Research on Psychology in Somatic diseases (CoRPS), Tilburg University, Tilburg, The Netherlands

    Melissa S. Y. Thong

  3. Department of Biological Psychology, VU University, Amsterdam, The Netherlands

    Meike Bartels

  4. Thomas Jefferson University, Philadelphia, PA, USA

    Andrea Barsevick

  5. Department of Human Anatomy and Psychobiology, University of Murcia, Murcia, Spain

    Juan Ordoñana

  6. Department of Symptom Research, MD Anderson Cancer Center, The University of Texas, Houston, TX, USA

    Qiuling Shi & Xin Shelley Wang

  7. Chair Department of Intensive Care Medicine, St. Olav University Hospital, Trondheim, Norway

    Pål Klepstad

  8. Department of Cell Biology and Histology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

    Eddy A. Wierenga

  9. Birmingham VA Medical Center, University of Alabama at Birmingham, Birmingham, AL, USA

    Jasvinder A. Singh

  10. Mayo Clinic College of Medicine, Rochester, MN, USA

    Jasvinder A. Singh

  11. Section of Cancer Center Statistics, Division of Biomedical Statistics and Informatics, Department of Health Sciences, Mayo Clinic, Rochester, MN, USA

    Jeff A. Sloan

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  1. Mirjam A. G. Sprangers
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Corresponding author

Correspondence to Mirjam A. G. Sprangers.

Additional information

On behalf of the GeneQol Consortium.

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Appendices

Appendix 1: Glossary

Allele

Is one of a number of alternative forms of the same gene or same genetic locus (generally a group of genes). It is the alternative form of a gene producing different effects. Sometimes, different alleles can result in different observable phenotypic traits.

Blood plasma

Is the liquid component of blood, consisting 90 % of water, with the 10 % remainder including proteins, minerals, waste products, clotting factors, hormones, and immunoglobins.

Blood serum

Is the blood plasma without the clotting elements.

Chromosome

Self-replicating structures in the nucleus of a cell that carry the genetic information.

DNA (deoxyribonucleic acid)

The double-stranded molecule that encodes genetic information.

Epigenetics

The study of heritable changes to DNA structure that do not alter the underlying sequence.

Gene

The basic unit of inheritance. A sequence of DNA that codes for a particular protein product.

Genome

The entire collection of genetic information (or genes) that an organism possesses.

Ligand

Ligand is an ion or molecule (functional group) that binds to a central metal atom to form a coordination complex.

Genome-wide association study (GWAS)

A study that evaluates association of genetic variation with outcomes or traits of interest by using 100,000 to 1,000,000 markers or more across the genome.

Genotype

The genetic constitution of an individual.

Haplotype

Is a combination of alleles (DNA sequences) at adjacent locations on a chromosome that are inherited together.

Heritability

The proportion of phenotypic differences among individuals that can be attributed to genetic differences in a particular population.

Locus (plural, loci)

The site(s) on a chromosome at which the gene for a particular trait is located.

Linkage study

Study to identify physical segments (e.g., chromosomal regions) that are associated with given traits.

Nucleotides

Organic molecules that are the building blocks of nucleic acids, like DNA and RNA.

Phenotype

An observed characteristic of an individual that results from the combined effects of genotype and environment.

Polymorphism

The existence of two or more variants of a gene, occurring in a population, with at least 1 % frequency of the less common variant (cf mutation).

SNP

A single nucleotide polymorphism is a variation in a DNA sequence when a single nucleotide in the gene differs between paired chromosomes.

Note: definitions are taken from text books and Wikipedia.

Appendix 2: GENEQOL Consortium Participants per September 2013

Amy P. Abertnethy, Duke Cancer Care Research Program, Duke University Medical Center, Durham, NC, USA; Frank Baas, Laboratory of Neurogenetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Andrea M. Barsevick, Cancer Prevention and Control Program, Fox Chase Cancer Center, Philadelphia, PA, USA; Meike Bartels, Department of Biological Psychology, VU University, Amsterdam, the Netherlands; Dorret I. Boomsma, Department of Biological Psychology, VU University, Amsterdam, the Netherlands; Andrew Bottomley, Quality of Life Department, EORTC Data Center, Brussels, Belgium; Michael Brundage, Department of Oncology, Queen’s University Cancer Centre of Southeastern Ontario, Kingston, Ontario, Canada; David Cella, Department of Medical Social Sciences, Feinberg School of Medicine, Chicago, IL, USA; Cynthia Chauhan, Cancer Advocay, Wichita, KS, USA; Charles S. Cleeland, Department of Symptom Research, The University of Texas M. D. Anderson Cancer Center, Houston, TX, USA; Corneel Coens, Quality of Life Department, EORTC Data Center, Brussels, Belgium; Amylou C. Dueck, Section of Biostatistics, Mayo Clinic, Scottsdale, AZ, USA; Marlene H. Frost, Women’s Cancer Program, Mayo Clinic, Rochester, MN, USA; Per Hall, Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden; Michele Y. Halyard, Department of Radiation Oncology, Mayo Clinic, Scottsdale, AZ, USA; Pål Klepstad, Department of Intensive Care Medicine, St Olavs University Hospital, Norwegian University of Technology and Science, Trondheim, Norway; Hanneke W.M. van Laarhoven, Department of Medical Oncology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Nicholas G. Martin, Queensland Institute of Medical Research, Brisbane, Australia; Christine Miaskowski, School of Nursing, University of California, San Francisco, CA, USA; Miriam Mosing, Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden; Benjamin Movsas, Department of Radiation Oncology, Henry Ford Health System, Detroit, MI, USA; Joao R. Oliveira, Department of Neuropsychiatry, Federal University of Pernambuco, Recife, Pernambuco, Brazil; Juan Ordoñana, Department of Human Anatomy and Psychobiology, University of Murcia, Murcia, Spain; Donald L. Patrick, Department of Health Services, University of Washington, Seattle, WA, USA; Nancy L. Pedersen, Department of Medical Epidemiology and Biostatistics, Karolinska; Institute, Stockholm, Sweden; Hein Raat, Preventive Youth Health Care, Erasmus Medical Center, Rotterdam, the Netherlands; Bryce Reeve, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, MD, USA; Ristvedt Stephen, Department of Psychiatry, Washington University, St. Louis, MO, USA; Mary E. Ropka, Cancer Prevention and Control Program, Fox Chase Cancer Center, Cheltenham, PA, USA; Carolyn Schwartz, DeltaQuest Foundation, Concord, MA, USA; Quiling Shi, Department of Symptom Research, The University of Texas M. D. Anderson Cancer Center, Houston, TX, USA; Gen Shinozaki, Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA; Jasvinder A. Singh, Minneapolis Veterans Affairs Medical Center and University of Minnesota, Minneapolis, MN and Mayo Clinic College of Medicine, Rochester, MN, USA; Jeff A. Sloan, Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA; Mirjam A. G. Sprangers, Department of Medical Psychology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Dick Swaab, The Netherlands Institutes for Neuroscience, Amsterdam, the Netherlands; Jayant Talwalkar, Division of Gastroenterology & Hepatology, Rochester, Mayo Clinic, MN, USA; Melissa Thong, Department of Medical and Clinical Psychology, Center of Research on Psychology in Somatic diseases (CoRPS), Tilburg University, Tilburg, The Netherlands; Cornelis J. F. Van Noorden, Department of Cell Biology and Histology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Ruut Veenhoven, Faculty of Social Sciences, Erasmus University Rotterdam, Rotterdam, The Netherlands; Gert Wagner, Berlin University of Technology, Max Planck Research School LIFE, Berlin, Germany; Xin Shelley Wang, Department of Symptom Research, MD Anderson Cancer Center, The University of Texas, Houston, TX, USA; Eddy Wierenga, Department of Cell Biology and Histology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Ping Yang, Department of Genetic Epidemiology, Mayo Clinic, Rochester, MN, USA; Ailko H. Zwinderman, Department of Clinical Epidemiology and Biostatistics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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Sprangers, M.A.G., Thong, M.S.Y., Bartels, M. et al. Biological pathways, candidate genes, and molecular markers associated with quality-of-life domains: an update. Qual Life Res 23, 1997–2013 (2014). https://doi.org/10.1007/s11136-014-0656-1

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