Symptom Science: Advocating for Inclusion of Functional Genetic Polymorphisms
Symptom Science: Advocating for Inclusion of Functional Genetic Polymorphisms
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DOI：
10.1177/1099800419846407
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发表时间：
2019-07-01
影响因子：
2.5
通讯作者：
Conley, Yvette P.
中科院分区：
文献类型：
--
作者：
Knisely, Mitchell R.;Maserati, Megan;Conley, Yvette P.
将基于生物学的数据转化为症状科学研究可以大大有助于理解慢性病中常见的症状。本文献综述的目的是确定与常见症状相关的功能多态性（即，疼痛、睡眠障碍、疲劳、情感和认知症状），目的是确定一个功能性遗传多态性的简约列表，并有证据支持将其纳入症状科学研究。检索PubMed以确定与慢性疾病症状相关的基因和功能多态性，揭示了7种不同基因中的8种功能遗传多态性，这些基因显示出与至少3种或3种以上症状和/或症状群相关的证据：BDNF rs6265、COMT rs 4680、FKBP 5 rs3800373、IL-6 rs 1800795、NFKB 2 rs 1056890、SLC 6A 4 5-HTTLPR+ rs 25531和TNFA rs 1799964和rs 1800629。在这些基因中，有三个代表先前被确定为症状科学研究的常见数据元素的蛋白质生物标志物（BDNF、IL-6和TNFA），并且已知通过搜索确定的这些基因中的多态性会影响这些蛋白质生物标志物的分泌或转录水平。纳入多态性的基因型数据提供了巨大的潜力，以进一步推进科学知识的生物学基础的个体症状和症状集群的研究。此外，这些多态性有可能被用作目标，通过识别有不良症状经历风险的个体以及开发症状管理干预措施来优化精确健康。
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.