Understanding polygenic models, their development and the potential application of polygenic scores in healthcare

Villiers, Chantal Babb de; Kroese, Mark; Moorthie, Sowmiya

doi:10.1136/jmedgenet-2019-106763

Cited by 27 publications

(18 citation statements)

References 80 publications

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“…The main strengths of this study were the use of several biochemical markers related to metabolic traits and a well-characterised study cohort. In addition, the construction and use of a GRS method rather than a single SNP approach enhances the statistical power and presents an efficient perspective for metabolic outcomes [88][89][90]. However, there are some limitations that need to be acknowledged.…”

Section: Discussionmentioning

confidence: 99%

Interaction between Dietary Fat Intake and Metabolic Genetic Risk Score on 25-Hydroxyvitamin D Concentrations in a Turkish Adult Population

et al. 2022

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Previous studies have pointed out a link between vitamin D status and metabolic traits, however, consistent evidence has not been provided yet. This cross-sectional study has used a nutrigenetic approach to investigate the interaction between metabolic-genetic risk score (GRS) and dietary intake on serum 25-hydroxyvitamin D [25(OH)D] concentrations in 396 unrelated Turkish adults, aged 24–50 years. Serum 25(OH)D concentration was significantly lower in those with a metabolic-GRS ≥ 1 risk allele than those with a metabolic-GRS < 1 risk allele (p = 0.020). A significant interaction between metabolic-GRS and dietary fat intake (energy%) on serum 25(OH)D levels was identified (Pinteraction = 0.040). Participants carrying a metabolic-GRS ≥ 1 risk allele and consuming a high fat diet (≥38% of energy = 122.3 ± 52.51 g/day) had significantly lower serum 25(OH)D concentration (p = 0.006) in comparison to those consuming a low-fat diet (<38% of energy = 82.5 ± 37.36 g/d). In conclusion, our study suggests a novel interaction between metabolic-GRS and dietary fat intake on serum 25(OH)D level, which emphasises that following the current dietary fat intake recommendation (<35% total fat) could be important in reducing the prevalence of vitamin D deficiency in this Turkish population. Nevertheless, further larger studies are needed to verify this interaction, before implementing personalized dietary recommendations for the maintenance of optimal vitamin D status.

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Section: Discussionmentioning

confidence: 99%

Interaction between Dietary Fat Intake and Metabolic Genetic Risk Score on 25-Hydroxyvitamin D Concentrations in a Turkish Adult Population

et al. 2022

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“…This work is also relevant to medical sociology because of the increasing use of PGS. Babb de Villiers, Kroese, and Moorthie (2020) describe how this research is influencing the way in which providers assess the health, health behaviors, and overall fitness of their patients as well as patients’ understanding of their overall health. The use of PGS is appealing because it is a relatively simple summary statistic of an individual’s risk for a specific morbidity.…”

Section: Medical Sociology and Geneticsmentioning

confidence: 99%

Evaluating the Continued Integration of Genetics into Medical Sociology

Boardman

Fletcher

2021

J Health Soc Behav

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The 2010 special issue of Journal of Health and Social Behavior, titled “Fifty Years of Medical Sociology,” defined the contours of the medical sociological perspective. We use this as a backdrop to outline and assess the continued integration of genetics into medical sociology research. We contend that the explosion of genetic and epigenetic data in population health data sources has made the medical sociological perspective increasingly relevant to researchers outside of sociology, including public health, epidemiology, and quantitative genetics. We describe vast, underappreciated, and mostly unsolved challenges that limit the scientifically appropriate interest in incorporating genetics into existing paradigms. It is our hope that medical sociologists continue this integration but redouble efforts to maintain the core insights in social science research, such as the importance of environmental and structural (i.e., nonbiological) factors in determining health processes and outcomes and the use of rich, integrated, and rigorous empirical analyses.

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“…Two papers in 2021, one presenting a standards framework, the other a catalog of published PRS models, aim to address these issues with guidance on how to describe PRS models and a repository which researchers can search and compare the various models available to determine which is best suited for a particular clinical need and support translation into clinical practice [42][43][44] . The UK Parliament also published a comprehensive report in June 2021 on the regulation of direct-to-consumer genomic testing with legislative recommendations [45] .…”

Section: Legal Ramifications Of a Polygenic Risk Scorementioning

confidence: 99%

Genetics - Predisposition and Application to Primary Preventions of CAD

Roberts

Fair

Murphy

et al. 2021

ijirms

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The risk of Coronary Artery Disease (CAD) has been recognized to be approximately 50% due to genetic predisposition and the remainder due to lifestyle and acquired causes. The first genetic risk variant was discovered in 2007 and since that time over 200 genetic risk variants predisposing to CAD have been discovered. These risk variants have been encrypted on to a microarray in preparation for their evaluation as a means to predict one’s risk for CAD. The Polygenic Risk Score (PRS) derived from these variants provides a single number for the total genetic risk burden. The PRS has been evaluated in several studies, totaling over 1 million individuals. Individuals categorized as high genetic risk for CAD based on PRS stratification show 2-3 fold increase risk for cardiac events. Retrospective analysis of several clinical trials showed lowering plasma LDL cholesterol is associated with decreased genetic risk and the frequency of cardiac events. A prospective study showed a favorable lifestyle to be associated with 47% reduction in the high genetic risk group and a similar reduction of 50% from physical activity in another prospective study. The PRS unlike acquired factors is not age-dependent but determined at conception and does not change throughout one’s lifetime. The several ethical, legal, and social implications associated with the clinical use of a PRS for CAD is fully discussed. The routine clinical application of the PRS for early primary prevention of CAD has the potential to be a paradigm shift in the prevention of this pandemic disease.

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Understanding polygenic models, their development and the potential application of polygenic scores in healthcare

Cited by 27 publications

References 80 publications

Interaction between Dietary Fat Intake and Metabolic Genetic Risk Score on 25-Hydroxyvitamin D Concentrations in a Turkish Adult Population

Interaction between Dietary Fat Intake and Metabolic Genetic Risk Score on 25-Hydroxyvitamin D Concentrations in a Turkish Adult Population

Evaluating the Continued Integration of Genetics into Medical Sociology

Genetics - Predisposition and Application to Primary Preventions of CAD

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