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Translational Genomic Research: The Association between Genetic Profiles and Cognitive Functioning or Cardiac Function Among Breast Cancer Survivors Completing Chemotherapy. 转化基因组研究:完成化疗的癌症乳腺癌幸存者的基因图谱与认知功能或心脏功能之间的关联。
Pub Date : 2022-10-01 Epub Date: 2022-05-02 DOI: 10.1177/10998004221094386
Jong Y Park, Cecile A Lengacher, Richard R Reich, Hyun Y Park, Junmin Whiting, Anh Thy Nguyen, Carmen Rodríguez, Hongdao Meng, Sara Tinsley, Katterine Chauca, Liliana Gordillo-Casero, Trudy Wittenberg, Anisha Joshi, Katherine Lin, Roohi Ismail-Khan, John V Kiluk, Kevin E Kip

Introduction: Emerging evidence suggests that Chemotherapy (CT) treated breast cancer survivors (BCS) who have "risk variants" in genes may be more susceptible to cognitive impairment (CI) and/or poor cardiac phenotypes. The objective of this preliminary study was to examine whether there is a relationship between genetic variants and objective/subjective cognitive or cardiac phenotypes. Methods and Analysis: BCS were recruited from Moffitt Cancer Center, Morsani College of Medicine, AdventHealth Tampa and Sarasota Memorial Hospital. Genomic DNA were collected at baseline for genotyping analysis. A total of 16 single nucleotide polymorphisms (SNPs) from 14 genes involved in cognitive or cardiac function were evaluated. Three genetic models (additive, dominant, and recessive) were used to test correlation coefficients between genetic variants and objective/subjective measures of cognitive functioning and cardiac outcomes (heart rate, diastolic blood pressure, systolic blood pressure, respiration rate, and oxygen saturation). Results: BCS (207 participants) with a mean age of 56 enrolled in this study. The majority were non-Hispanic white (73.7%), married (63.1%), and received both CT and radiation treatment (77.3%). Three SNPs in genes related to cognitive functioning (rs429358 in APOE, rs1800497 in ANKK1, rs10119 in TOMM40) emerged with the most consistent significant relationship with cognitive outcomes. Among five candidate SNPs related to cardiac functioning, rs8055236 in CDH13 and rs1801133 in MTHER emerged with potential significant relationships with cardiac phenotype. Conclusions: These preliminary results provide initial targets to further examine whether BCS with specific genetic profiles may preferentially benefit from interventions designed to improve cognitive and cardiac functioning following CT.

引言:新出现的证据表明,化疗(CT)治疗的癌症幸存者(BCS)如果基因存在“风险变异”,可能更容易出现认知障碍(CI)和/或不良心脏表型。这项初步研究的目的是检验遗传变异与客观/主观认知或心脏表型之间是否存在关系。方法与分析:BCS来自Moffitt癌症中心、Morsani医学院、AdventHealth Tampa和Sarasota纪念医院。在基线时收集基因组DNA进行基因分型分析。对14个涉及认知或心脏功能的基因中的16个单核苷酸多态性(SNPs)进行了评估。使用三种遗传模型(加性、显性和隐性)来测试遗传变异与认知功能和心脏结果(心率、舒张压、收缩压、呼吸率和血氧饱和度)的客观/主观测量之间的相关系数。结果:BCS(207名参与者),平均年龄56岁,参与本研究。大多数是非西班牙裔白人(73.7%),已婚(63.1%),同时接受CT和放射治疗(77.3%)。与认知功能相关的基因中的三个SNP(APOE中的rs429358,ANKK1中的rs1800497,TOMM40中的rs10119)与认知结果的关系最为一致。在5个与心脏功能相关的候选SNPs中,CDH13中的rs8055236和MTHER中的rs1801133与心脏表型存在潜在的显著关系。结论:这些初步结果为进一步检查具有特定遗传特征的BCS是否可以优先受益于旨在改善CT后认知和心脏功能的干预措施提供了初步目标。
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引用次数: 2
Primer in Genetics and Genomics, Article 2-Advancing Nursing Research With Genomic Approaches. 遗传学和基因组学初级读本,第2条——用基因组学方法推进护理研究。
Pub Date : 2017-03-01 Epub Date: 2017-01-30 DOI: 10.1177/1099800416689822
Hyunhwa Lee, Jessica Gill, Taura Barr, Sijung Yun, Hyungsuk Kim

Purpose: Nurses investigate reasons for variable patient symptoms and responses to treatments to inform how best to improve outcomes. Genomics has the potential to guide nursing research exploring contributions to individual variability. This article is meant to serve as an introduction to the novel methods available through genomics for addressing this critical issue and includes a review of methodological considerations for selected genomic approaches.

Approach: This review presents essential concepts in genetics and genomics that will allow readers to identify upcoming trends in genomics nursing research and improve research practice. It introduces general principles of genomic research and provides an overview of the research process. It also highlights selected nursing studies that serve as clinical examples of the use of genomic technologies. Finally, the authors provide suggestions about how to apply genomic technology in nursing research along with directions for future research.

Conclusions: Using genomic approaches in nursing research can advance the understanding of the complex pathophysiology of disease susceptibility and different patient responses to interventions. Nurses should be incorporating genomics into education, clinical practice, and research as the influence of genomics in health-care research and practice continues to grow. Nurses are also well placed to translate genomic discoveries into improved methods for patient assessment and intervention.

目的:护士调查患者症状变化的原因和对治疗的反应,以告知如何最好地改善结果。基因组学有可能指导护理研究,探索对个体变异性的贡献。这篇文章旨在介绍通过基因组学可用于解决这一关键问题的新方法,并包括对选定基因组方法的方法考虑的综述。方法:这篇综述介绍了遗传学和基因组学的基本概念,使读者能够确定基因组学护理研究的未来趋势,并改进研究实践。它介绍了基因组研究的一般原理,并对研究过程进行了概述。它还强调了选定的护理研究,作为使用基因组技术的临床例子。最后,作者对如何将基因组技术应用于护理研究提出了建议,并对未来的研究方向提出了建议。结论:在护理研究中使用基因组方法可以加深对疾病易感性和不同患者对干预措施反应的复杂病理生理学的理解。随着基因组学在医疗保健研究和实践中的影响力不断扩大,护士应该将基因组学纳入教育、临床实践和研究。护士们也能够很好地将基因组发现转化为改进的患者评估和干预方法。
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引用次数: 10
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Biological research for nursing
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