Genetic Risk Score

Estimate of an individual's genetic liability to a trait or disease, calculated according to their genotype profile and relevant genome-wide association study data. (from Tutorial: a guide to performing polygenic risk score analyses. Nat Protoc. 2020 Sep;15(9):2759.)

Also Known As:

Networked: 1338 relevant articles (33 outcomes, 190 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Type 2 Diabetes Mellitus (MODY)
2.	Insulin Resistance
3.	Hyperhomocysteinemia
4.	Cardiovascular Diseases (Cardiovascular Disease)
5.	Coronary Disease (Coronary Heart Disease)

Experts

1.	Qi, Lu: 17 articles (08/2022 - 12/2015)
2.	Hansen, Torben: 17 articles (03/2022 - 10/2013)
3.	Hofman, Albert: 16 articles (01/2018 - 12/2008)
4.	Pedersen, Oluf: 15 articles (01/2022 - 10/2013)
5.	Lehtimäki, Terho: 15 articles (01/2021 - 12/2011)
6.	Kraft, Peter: 13 articles (11/2021 - 11/2013)
7.	Orho-Melander, Marju: 13 articles (01/2021 - 11/2013)
8.	Huang, Tao: 12 articles (10/2021 - 12/2015)
9.	Franks, Paul W: 11 articles (01/2022 - 01/2011)
10.	Ikram, M Arfan: 11 articles (10/2021 - 03/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Genetic Risk Score:

1.	Biomarkers (Surrogate Marker)IBA 10/30/2018 - "Biomarker approaches to the stratification for genetic testing now appear to be most effective in identifying cases of monogenic diabetes, and use of genetic risk scores may also prove useful. " 10/17/2018 - "This has enabled the creation of genetic risk scores that have demonstrated improved risk prediction when added to clinical markers of CVD risk. " 01/01/2022 - "In this study, we investigated the capability of polygenic risk scores to stratify a cohort of young individuals into risk deciles based on 10 different cardiovascular traits and circulating biomarkers. " 01/01/2022 - "Australian adult study participants who had reported their parental survival information were included in the study: 14,169 participants had polygenic risk scores (PRS) from genotyping and up to 13,365 had biomarker results. " 01/01/2022 - "This study explores the use of a genetic risk score (GRS) for CAD risk prediction, compares it to established clinical markers, and investigates its performance according to the age and pharmacological treatment. "
2.	Triglycerides (Triacylglycerol)IBA 01/01/2020 - "Prior analyses suggest that the effect of a genetic risk score (GRS) on fasting plasma triglyceride levels increases with the percentile of the triglyceride distribution. " 01/01/2020 - "The genetic contribution was assessed using a triglyceride polygenic risk score (triglyceride-PRS). " 01/01/2019 - "After multivariate adjustments, we found that rs651821 and weighted genetic risk score (GRS) were significantly associated with increased triglyceride, and the genetic association with triglyceride change consistently strengthened across sleep duration categories. " 04/01/2016 - "The genetic loci were amalgamated into a weighted genetic risk score (WGRSTG) by summing the triglyceride-elevating alleles (weighted by their established marginal effects) for all loci. " 01/01/2016 - "Conversely, in males, the association between the continuous TG genetic risk score and triglycerides levels tended to be lower in childhood and become more pronounced after the age of 25 years. "
3.	Folic Acid (Vitamin M)FDA LinkGeneric 01/01/2019 - "The simple count genetic risk score (SC-GRS) and weighted genetic risk score (wGRS) were found to be independently associated with the efficacy of folic acid treatment for HHcy. " 07/01/2023 - "A positive correlation between the genetic risk scores and folate deficiency was observed in the male subjects. " 07/01/2023 - "The plasma folate levels, erythrocyte SOD and GSH-PX activities were negatively correlated with genetic risk scores in the male subjects. " 07/01/2023 - "Logistic regression was used to explore the association of genetic risk scores of folate pathway gene with folate deficiency. " 01/01/2023 - "Using logistic regression, we examined the interaction between prenatal ASM exposure and maternal genetic liability to folate deficiency expressed as polygenic risk score of low folate concentrations or maternal rs1801133 genotype (CC or CT/TT) on risk of language impairment or autistic traits. "
4.	CalciumIBA 01/01/2023 - "In addition, the coronary artery calcium score but not the polygenic risk score significantly improved risk discrimination and risk reclassification for CHD when added to traditional risk factors." 12/01/2022 - "Trial efficiency depends on accurate identification of high-risk young adults, which can potentially be done using traditional risk equations, coronary artery calcium screening, computerized tomography coronary angiography, and polygenic risk scores. " 01/01/2022 - "Several personalized risk prediction tools, including coronary artery calcium scoring, polygenic risk scores, and metabolic risk scores may be able to improve risk assessment, pending supportive outcome data from clinical trials. " 01/01/2021 - "The goal of this study was to assess the utility of a genetic risk score (GRS) in targeted coronary artery calcium (CAC) screening among young individuals. " 01/01/2023 - "In 2 cohorts of middle-aged to older adults from the US and the Netherlands, the coronary artery calcium score had better discrimination than the polygenic risk score for risk prediction of CHD. "
5.	Glucose (Dextrose)FDA LinkGeneric 03/30/2023 - "Future studies should investigate the effect of polygenic risk scores on postprandial glucose levels." 01/01/2018 - "A genetic risk score for fasting plasma glucose is independently associated with arterial stiffness: a Mendelian randomization study." 01/01/2022 - "In addition to well known risk factors such as lifestyle and genetic risk score, accumulation of environmental toxicants in organs relevant to glucose metabolism is increasingly recognized as additional risk factors for T2DM. " 01/01/2022 - "A validated genome-wide polygenic risk score (PRS) was tested for association with midlife body mass index (BMI), fasting plasma glucose, and systolic blood pressure using multiple linear regression models. " 01/01/2022 - "Two polygenic risk scores for T2D (PRST2D ) and fasting glucose (PRSFG ) were calculated using 488 and 82 single nucleotide polymorphisms (SNP) for T2D and fasting glucose, respectively, which were extracted from large-scaled genome-wide association studies with multiethnic data. "
6.	Antidepressive Agents (Antidepressants)IBA 01/01/2018 - "In addition, polygenic risk scores (PRSs) generated from our association analysis were found to be able to predict treatment efficacy of the antidepressants in this study. " 10/13/2022 - "We used data from up to 378 000 Europeans in UK Biobank, a 73 variant body mass index (BMI) genetic risk score, two depression measures [depression symptoms (DS), major depression (MD)] and an antidepressant usage variable available. " 01/01/2022 - "Using a polygenic-informed electroencephalography (EEG) data-driven, data-reduction approach, we identify a brain network in a large cohort (N=1,123), and discover it is sex-specifically (male patients, N=617) associated with polygenic risk score (PRS) of antidepressant response. " 01/01/2022 - "Recently, pharmacogenetic studies, including candidate-gene, genome-wide association studies or polygenic risk scores, have attempted to uncover the genetic architecture of antidepressant response. " 01/01/2022 - "A polygenic risk score (PRS) is a useful tool to explore genetic liability of a complex trait such as antidepressant treatment response. "
7.	LDL CholesterolIBA 04/01/2016 - "In addition, new observational studies using a genetic risk score for LDL-cholesterol suggest that other pathways linked to LDL-cholesterol metabolism may also affect diabetes risk. " 01/01/2022 - "Are polygenic risk scores for systolic blood pressure and LDL-cholesterol associated with treatment effectiveness, and clinical outcomes among those on treatment?" 01/01/2021 - "Here we review recent developments in polygenic risk scores (PRSs) for LDL cholesterol and for CAD, and how they may add to current risk prediction algorithms. " 01/01/2021 - "The clinical applicability of polygenic risk scores for LDL-cholesterol: considerations, current evidence and future perspectives." 12/15/2020 - "Can genetic risk scores refine the role of LDL cholesterol?"
8.	C-Reactive ProteinIBA 01/01/2013 - "The new procedures are illustrated with data from the Framingham Offspring Study to characterize individual level cardiovascular risks over time based on the Framingham risk score, C-reactive protein (CRP) and a genetic risk score." 01/01/2023 - "Genetic risk scores (GRSs), which comprise four validated CRP loci as two instrumental variables, were calculated as unweighted and weighted scores to evaluate the causal relationship of hsCRP with DN risk. " 01/01/2023 - "No significant interactions with known risk factors, including polygenic risk score and C-reactive protein, were identified. " 07/01/2015 - "The genetic risk score based on adult C-reactive protein level SNPs was not associated with adiposity measures at school age. " 07/01/2015 - "The genetic risk score based on adult body mass index SNPs, but not adult waist-hip ratio SNPs, tended to be associated with increased C-reactive protein levels at school age. "
9.	AutoantibodiesIBA 03/01/2019 - "Genetic risk scores can predict with increasing precision and accuracy who is at risk for T1D, and early staging based upon islet autoantibody status allows for improved mechanistic and natural history studies as well as improved clinical trial design. " 11/09/2021 - "Infants aged 7 days to 6 weeks from Germany, Poland, Belgium, UK and Sweden are eligible for study participation if they have a >10.0% expected risk for developing multiple beta-cell autoantibodies by age 6 years as determined by genetic risk score or family history and HLA genotype. " 10/27/2023 - "The proposed models will evaluate the utility of three existing T1D genetic risk scores in combination with data on islet autoantibodies and other parameters typically available at the time of diabetes onset. " 01/01/2023 - "No association was seen with autoantibodies or genetic risk score for T1D. " 01/01/2019 - "Islet autoantibody-positive children with a genetic risk score in the lowest quartile had a slower progression from single to multiple autoantibodies (p=0.018), from single autoantibodies to diabetes (p=0.004), and by trend from multiple islet autoantibodies to diabetes (p=0.06). "
10.	AdiponectinIBA 12/17/2022 - "Using 2 groups built from each twin of 232 MZ twin pairs, we performed a replicated epigenome-wide association study to clarify the epigenetic factors affecting adiponectin levels adjusted by genetic risk score. " 11/08/2022 - "We constructed a polygenic risk score (PRS) for adiponectin levels across 3354 unrelated sub-Saharan Africans. " 01/01/2017 - "To investigate interactions between the genetic risk score (GRS) for adiponectin levels and weight-loss diets varying in macronutrient intake on long-term changes in appetite and adiponectin levels. " 10/01/2013 - "We used genetic variants at the ADIPOQ gene as instruments to calculate a regression slope between adiponectin levels and metabolic traits (up to 31,000 individuals) and a combination of instrumental variables and summary statistics-based genetic risk scores to test the associations with gold-standard measures of insulin sensitivity (2,969 individuals) and type 2 diabetes (15,960 case subjects and 64,731 control subjects). " 10/01/2013 - "Using the ADIPOQ summary statistics genetic risk scores, we found no evidence of an association between adiponectin-lowering alleles and insulin sensitivity (effect per weighted adiponectin-lowering allele: -0.03 SD; 95% CI -0.07 to 0.01; N = 2,969) or type 2 diabetes (OR per weighted adiponectin-lowering allele: 0.99; 95% CI 0.95-1.04; 15,960 case subjects vs. 64,731 control subjects). "

Therapies and Procedures

1.	Therapeutics 01/01/2021 - "Here we review the history of human genetics in the context of accelerating the discovery of therapies, present examples of how human genetics evidence supports successful drug targets, and discuss how polygenic risk scores could be beneficial in various clinical settings. " 10/01/2022 - "Large scale epigenetic studies followed by estimation of heritability of these CpG methylation and polygenic risk score estimation of these genes would prioritize potentially druggable targets for better therapeutics. " 01/01/2023 - "The MS Cluster A who have a higher genetic risk score but microbiome profile similar to that of healthy controls could be due to the remitting phase of the disease or due to the effect of disease modifying therapies." 12/01/2022 - "Corresponding polygenic risk scores were associated with hepatotoxic effects across all therapy phases and were largely driven by UGT1A1 and PNPLA3 variants. " 06/09/2022 - "The identification of individuals at high risk for CAD using polygenic risk scores (PRS) will allow early prophylactic measures and personalized therapy to improve their prognosis."
2.	Precision Medicine 01/01/2019 - "Despite these promising results, genomic studies in African populations are still limited and thus genomics tools and approaches such as polygenic risk scores and precision medicine are likely to have limited utility in Africans with the unacceptable possibility of exacerbating prevailing health disparities. " 01/01/2022 - "LAI is important in the study of human history and migrations, and it is beginning to play a role in precision medicine applications including ancestry-adjusted genome-wide association studies (GWASs) and polygenic risk scores (PRSs). " 10/30/2023 - "Polygenic risk scores (PRS), which combine multiple contributing variants to predict disease risk, have the potential to influence the implementation for precision medicine. " 09/27/2023 - "Polygenic risk scores (PRS) enhance population risk stratification and advance personalized medicine, yet existing methods face a tradeoff between predictive power and computational efficiency. " 02/21/2023 - "Polygenic Risk Scores (PRS) have huge potential to contribute to biomedical research and to a future of precision medicine, but to date their calculation relies largely on Europeanancestry GWAS data. "
3.	Drug Therapy (Chemotherapy) 08/01/2020 - "Genetic risk score is superior to conventional risk factors, and is markedly attenuated by lifestyle changes and drug therapy. " 01/01/2023 - "Longitudinally ascertained medication use may empower studies examining associations between polygenic risk scores (PRSs) and pharmacotherapy choices. " 01/01/2016 - "This study was well powered (≥96%) to detect associations between polygenic risk score and chemotherapy toxicity. " 01/01/2023 - "Polygenic risk scores were higher in neonates receiving pharmacotherapy for treatment of their neonatal abstinence syndrome. " 01/01/2023 - "Polygenic risk scores and the need for pharmacotherapy in neonatal abstinence syndrome."
4.	Genomic Medicine 10/01/2022 - "While there may be clinical promise to employing prediction tools such as polygenic risk scores (PRS), it currently stands that individuals of non-European ancestry may not reap the benefits of genomic medicine because of underrepresentation in large-scale genetics studies. " 11/01/2022 - "The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review." 11/01/2020 - "Polygenic Risk Scores for Diverse Ancestries: Making Genomic Medicine Equitable." 01/01/2014 - "These genomic medicine pilot studies include returning individual genetic variants associated with disease susceptibility or drug response, as well as genetic risk scores for common "complex" disorders. " 10/01/2022 - "The Genomic Medicine at VA (GenoVA) Study is a pragmatic trial of polygenic risk score testing enrolling patients without known diagnoses of 6 common diseases: atrial fibrillation, coronary artery disease, type 2 diabetes, breast cancer, colorectal cancer, and prostate cancer. "
5.	Bariatric Surgery 09/01/2023 - "Six studies performed with a genetic risk score (GRS) model presented significant associations between GRS and outcomes following bariatric surgery. " 01/01/2020 - "In this prospective study, we examined the association of a genetic risk score (GRS) with loss of excess weight after bariatric surgery. " 01/01/2019 - "A genetic risk score was associated with EBMIL after bariatric surgery, but may not yet be applicable to clinical practice. " 10/01/2021 - "This evidence suggests the potential of using genetic variants and genetic risk scores to predict the amount of weight loss anticipated after bariatric surgery and identify patients who may be at risk for suboptimal weight reduction." 01/01/2020 - "A Genetic Risk Score for the Estimation of Weight Loss After Bariatric Surgery."