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Symptom Science: Advocating for Inclusion of Functional Genetic Polymorphisms.

ABSTRACT: Incorporating biologically based data into symptom science research can contribute substantially to understanding commonly experienced symptoms across chronic conditions. The purpose of this literature review was to identify functional polymorphisms associated with common symptoms (i.e., pain, sleep disturbance, fatigue, affective and cognitive symptoms) with the goal of identifying a parsimonious list of functional genetic polymorphisms with evidence to advocate for their inclusion in symptom science research. PubMed was searched to identify genes and functional polymorphisms associated with symptoms across chronic conditions, revealing eight functional genetic polymorphisms in seven different genes that showed evidence of association with at least three or more symptoms and/or symptom clusters: BDNF rs6265, COMT rs4680, FKBP5 rs3800373, IL-6 rs1800795, NFKB2 rs1056890, SLC6A4 5-HTTLPR+rs25531, and TNFA rs1799964 and rs1800629. Of these genes, three represent protein biomarkers previously identified as common data elements for symptom science research (BDNF, IL-6, and TNFA), and the polymorphisms in these genes identified through the search are known to impact secretion or level of transcription of these protein biomarkers. Inclusion of genotype data for polymorphisms offers great potential to further advance scientific knowledge of the biological basis of individual symptoms and symptom clusters across studies. Additionally, these polymorphisms have the potential to be used as targets to optimize precision health through the identification of individuals at risk for poor symptom experiences as well as the development of symptom management interventions.

SUBMITTER: Knisely MR

PROVIDER: S-EPMC6700869 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature

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Symptom Science: Advocating for Inclusion of Functional Genetic Polymorphisms.

Knisely Mitchell R MR Maserati Megan M Heinsberg Lacey W LW Shah Lisa L LL Li Hongjin H Zhu Yehui Y Ma Yumi Y Graves Letitia Y LY Merriman John D JD Conley Yvette P YP

Biological research for nursing 20190425 4

Incorporating biologically based data into symptom science research can contribute substantially to understanding commonly experienced symptoms across chronic conditions. The purpose of this literature review was to identify functional polymorphisms associated with common symptoms (i.e., pain, sleep disturbance, fatigue, affective and cognitive symptoms) with the goal of identifying a parsimonious list of functional genetic polymorphisms with evidence to advocate for their inclusion in symptom s ...[more]

PMID: 31023072

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Project description:PURPOSE:Biomarkers as common data elements (CDEs) are important for the characterization of biobehavioral symptoms given that once a biologic moderator or mediator is identified, biologically based strategies can be investigated for treatment efforts. Just as a symptom inventory reflects a symptom experience, a biomarker is an indicator of the symptom, though not the symptom per se. The purposes of this position paper are to (a) identify a "minimum set" of biomarkers for consideration as CDEs in symptom and self-management science, specifically biochemical biomarkers; (b) evaluate the benefits and limitations of such a limited array of biomarkers with implications for symptom science; (c) propose a strategy for the collection of the endorsed minimum set of biologic samples to be employed as CDEs for symptom science; and (d) conceptualize this minimum set of biomarkers consistent with National Institute of Nursing Research (NINR) symptoms of fatigue, depression, cognition, pain, and sleep disturbance. DESIGN AND METHODS:From May 2016 through January 2017, a working group consisting of a subset of the Directors of the NINR Centers of Excellence funded by P20 or P30 mechanisms and NINR staff met bimonthly via telephone to develop this position paper suggesting the addition of biomarkers as CDEs. The full group of Directors reviewed drafts, provided critiques and suggestions, recommended the minimum set of biomarkers, and approved the completed document. Best practices for selecting, identifying, and using biological CDEs as well as challenges to the use of biological CDEs for symptom and self-management science are described. Current platforms for sample outcome sharing are presented. Finally, biological CDEs for symptom and self-management science are proposed along with implications for future research and use of CDEs in these areas. FINDINGS:The recommended minimum set of biomarker CDEs include pro- and anti-inflammatory cytokines, a hypothalamic-pituitary-adrenal axis marker, cortisol, the neuropeptide brain-derived neurotrophic factor, and DNA polymorphisms. CONCLUSIONS:It is anticipated that this minimum set of biomarker CDEs will be refined as knowledge regarding biologic mechanisms underlying symptom and self-management science further develop. The incorporation of biological CDEs may provide insights into mechanisms of symptoms, effectiveness of proposed interventions, and applicability of chosen theoretical frameworks. Similarly, as for the previously suggested NINR CDEs for behavioral symptoms and self-management of chronic conditions, biological CDEs offer the potential for collaborative efforts that will strengthen symptom and self-management science. CLINICAL RELEVANCE:The use of biomarker CDEs in biobehavioral symptoms research will facilitate the reproducibility and generalizability of research findings and benefit symptom and self-management science.

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Symptom Science: Advocating for Inclusion of Functional Genetic Polymorphisms.

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Symptom Science: Advocating for Inclusion of Functional Genetic Polymorphisms.

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