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

Mirjam A. G. Sprangers, Melissa S. Y. Thong, Meike Bartels, Andrea Barsevick, Juan Ordonana, Qiuling Shi, Xin Shelley Wang, Pal Klepstad, Eddy A. Wierenga, Jasvinder A. Singh, Jeff A. Sloan

Research output: Contribution to journalReview articlepeer-review

53 Citations (Scopus)


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.
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.
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.
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.
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.
Keywords: Biological pathways, Genes, Molecular markers, Quality of life, Patient-reported outcomes (PROs)/
Original languageEnglish
Pages (from-to)1997-2013
JournalQuality of Life Research
Issue number7
Publication statusPublished - Sept 2014


  • Biological pathways
  • Genes
  • Molecular markers
  • Quality of life
  • Patient-reported outcomes (PROs)


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