Publications

PGS Publication/Study ID (PGP) PGS Developed PGS Evaluated First Author Title Journal Name Publication Date Digital object identifier (doi) PubMed ID (PMID)
PGP000163 1 1 Lu T A polygenic risk score to predict future adult short stature amongst children. J Clin Endocrinol Metab 31/03/2021 10.1210/clinem/dgab215 33788949
PGP000538 1 1 Aranda-Guillén M A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies. J Intern Med 21/05/2023 10.1111/joim.13649 37151110
PGP000368 0 1 Marston NA A polygenic risk score predicts atrial fibrillation in cardiovascular disease. Eur Heart J 18/08/2022 10.1093/eurheartj/ehac460 35980763
PGP000289 1 1 Lu X A polygenic risk score improves risk stratification of coronary artery disease: a large-scale prospective Chinese cohort study. Eur Heart J 23/02/2022 10.1093/eurheartj/ehac093 35195259
PGP000452 0 1 Schaffer KR A Polygenic Risk Score for Prostate Cancer Risk Prediction. JAMA Intern Med 06/03/2023 10.1001/jamainternmed.2022.6795 36877498
PGP000558 1 1 Vasavda C A Polygenic Risk Score for Predicting Racial and Genetic Susceptibility to Prurigo Nodularis. J Invest Dermatol 26/05/2023 10.1016/j.jid.2023.04.033 37245863
PGP000320 1 1 He YQ A polygenic risk score for nasopharyngeal carcinoma shows potential for risk stratification and personalized screening. Nat Commun 12/04/2022 10.1038/s41467-022-29570-4 35414057
PGP000310 1 1 Canzian F A polygenic risk score for multiple myeloma risk prediction. Eur J Hum Genet 30/11/2021 10.1038/s41431-021-00986-8 34845334
PGP000094 1 1 Shieh Y A Polygenic Risk Score for Breast Cancer in US Latinas and Latin American Women. J Natl Cancer Inst 01/06/2020 10.1093/jnci/djz174 31553449
PGP000503 6 6 Sofer T A polygenic risk score for Alzheimer's disease constructed using APOE-region variants has stronger association than APOE alleles with mild cognitive impairment in Hispanic/Latino adults in the U.S. Alzheimers Res Ther 30/08/2023 10.1186/s13195-023-01298-3 37649099
PGP000645 1 1 Schwantes-An TH A polygenic risk score for alcohol-associated cirrhosis among heavy drinkers with European ancestry. Hepatol Commun 10/05/2024 10.1097/hc9.0000000000000431 38727677
PGP000153 0 1 Manousaki D A Polygenic Risk Score as a Risk Factor for Medication-Associated Fractures. J Bone Miner Res 20/07/2020 10.1002/jbmr.4104 32511779
PGP000385 0 2 Zhang J A polygenic risk score and age of diagnosis of COPD. Eur Respir J 15/09/2022 10.1183/13993003.01954-2021 35115341
PGP000221 1 2 Leal LG A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin. Mol Genet Genomic Med 19/04/2020 10.1002/mgg3.1248 32307928
PGP000504 0 1 Duschek E A polygenic and family risk score are both independently associated with risk of type 2 diabetes in a population-based study. Sci Rep 23/03/2023 10.1038/s41598-023-31496-w 36959271
PGP000547 3 3 Bui A A partitioned 88-loci psoriasis genetic risk score reveals HLA and non-HLA contributions to clinical phenotypes in a Newfoundland psoriasis cohort. Front Genet 31/05/2023 10.3389/fgene.2023.1141010 37323656
PGP000225 1 1 Qassim A An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity. Ophthalmology 07/01/2020 10.1016/j.ophtha.2019.12.025 32081492
PGP000045 4 4 Johnson L An Examination of the Relationship between Lipid Levels and Associated Genetic Markers across Racial/Ethnic Populations in the Multi-Ethnic Study of Atherosclerosis. PLoS One 07/05/2015 10.1371/journal.pone.0126361 25951326
PGP000498 1 1 Clark R A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration. EBioMedicine 11/04/2023 10.1016/j.ebiom.2023.104551 37055258
PGP000489 82 82 Zhang H A new method for multiancestry polygenic prediction improves performance across diverse populations. Nat Genet 25/09/2023 10.1038/s41588-023-01501-z 37749244
PGP000422 1 4 Vanhoye X A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia. Transl Res 15/12/2022 10.1016/j.trsl.2022.12.002 36528340
PGP000595 65 65 Zhang J An ensemble penalized regression method for multi-ancestry polygenic risk prediction. Nat Commun 15/04/2024 10.1038/s41467-024-47357-7 38622117
PGP000282 1 1 Wu Q An early prediction model for gestational diabetes mellitus based on genetic variants and clinical characteristics in China. Diabetol Metab Syndr 24/01/2022 10.1186/s13098-022-00788-y 35073990
PGP000126 1 1 Pirruccello JP Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy. Nat Commun 07/05/2020 10.1038/s41467-020-15823-7 32382064
PGP000578 1 1 Tomassen J Amyloid-β and APOE genotype predict memory decline in cognitively unimpaired older individuals independently of Alzheimer's disease polygenic risk score. BMC Neurol 15/12/2022 10.1186/s12883-022-02925-6 36522743
PGP000429 2 2 Seviiri M A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma. Nat Commun 10/12/2022 10.1038/s41467-022-35345-8 36496446
PGP000531 4 4 Kurniansyah N A multi-ethnic polygenic risk score is associated with hypertension prevalence and progression throughout adulthood. Nat Commun 21/06/2022 10.1038/s41467-022-31080-2 35729114
PGP000466 3 3 Patel AP A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease. Nat Med 06/07/2023 10.1038/s41591-023-02429-x 37414900
PGP000341 1 1 Vujkovic M A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation. Nat Genet 02/06/2022 10.1038/s41588-022-01078-z 35654975
PGP000743 3 3 Ismail Umlai UK A multi-ancestry genome-wide association study and evaluation of polygenic scores of LDL-C levels. J Lipid Res 03/02/2025 10.1016/j.jlr.2025.100752 39909172
PGP000069 1 1 Hsu L A model to determine colorectal cancer risk using common genetic susceptibility loci. Gastroenterology 13/02/2015 10.1053/j.gastro.2015.02.010 25683114
PGP000698 0 1 Gorijala P Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome. Alzheimers Dement 19/10/2023 10.1002/alz.13506 37855447
PGP000606 0 1 Szczerbinski L Algorithms for the identification of prevalent diabetes in the All of Us Research Program validated using polygenic scores - a new resource for diabetes precision medicine medRxivPre 05/09/2023 10.1101/2023.09.05.23295061
PGP000623 2 2 Cañadas-Garre M Albuminuria-Related Genetic Biomarkers: Replication and Predictive Evaluation in Individuals with and without Diabetes from the UK Biobank. Int J Mol Sci 07/07/2023 10.3390/ijms241311209 37446387
PGP000638 1 1 Ma Y Air pollution, genetic susceptibility, and the risk of atrial fibrillation: A large prospective cohort study. Proc Natl Acad Sci U S A 31/07/2023 10.1073/pnas.2302708120 37523535
PGP000731 6 6 Deng WQ A high-resolution PheWAS approach to alcohol-related polygenic risk scores reveals mechanistic influences of alcohol reinforcing value and drinking motives. Alcohol Alcohol 01/01/2024 10.1093/alcalc/agad093 38261344
PGP000199 0 1 Ferreira MAR Age-of-onset information helps identify 76 genetic variants associated with allergic disease. PLoS Genet 30/06/2020 10.1371/journal.pgen.1008725 32603359
PGP000519 0 1 Thomas NJ Age of Diagnosis Does Not Alter the Presentation or Progression of Robustly Defined Adult-Onset Type 1 Diabetes. Diabetes Care 01/06/2023 10.2337/dc22-2159 36802355
PGP000156 1 1 Du Z A genome-wide association study of prostate cancer in Latinos. Int J Cancer 03/07/2019 10.1002/ijc.32525 31226226
PGP000241 1 1 Wang M A genome-wide association and polygenic risk score study on abnormal electrocardiogram in a Chinese population. Sci Rep 25/02/2021 10.1038/s41598-021-84135-7 33633301
PGP000258 1 1 Whitfield JB A genetic risk score and diabetes predict development of alcohol-related cirrhosis in drinkers. J Hepatol 13/10/2021 10.1016/j.jhep.2021.10.005 34656649
PGP000549 1 1 Fernández-Rhodes L A Gene-Acculturation Study of Obesity Among US Hispanic/Latinos: The Hispanic Community Health Study/Study of Latinos. Psychosom Med 15/03/2023 10.1097/psy.0000000000001193 36917487
PGP000458 0 1 Pavelka L Age at onset as stratifier in idiopathic Parkinson's disease - effect of ageing and polygenic risk score on clinical phenotypes. NPJ Parkinsons Dis 09/08/2022 10.1038/s41531-022-00342-7 35945230
PGP000493 4 4 Li J Age and Genetic Risk Score and Rates of Blood Lipid Changes in China. JAMA Netw Open 01/03/2023 10.1001/jamanetworkopen.2023.5565 36988954
PGP000139 1 2 Karunamuni RA African-specific improvement of a polygenic hazard score for age at diagnosis of prostate cancer. Int J Cancer 24/09/2020 10.1002/ijc.33282 32930425
PGP000315 0 1 Hämmerle M A Family and a Genome-Wide Polygenic Risk Score Are Independently Associated With Stroke in a Population-Based Study. Stroke 07/04/2022 10.1161/strokeaha.121.036551 35387493
PGP000552 0 1 Mantovani A Adverse effect of PNPLA3 p.I148M genetic variant on kidney function in middle-aged individuals with metabolic dysfunction. Aliment Pharmacol Ther 22/03/2023 10.1111/apt.17477 36947711
PGP000314 1 1 Pujol-Gualdo N Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse. Nat Commun 23/06/2022 10.1038/s41467-022-31188-5 35739095
PGP000036 1 1 Zhang X Addition of a polygenic risk score, mammographic density, and endogenous hormones to existing breast cancer risk prediction models: A nested case-control study. PLoS Med 04/09/2018 10.1371/journal.pmed.1002644 30180161
PGP000037 1 1 Lakeman IMM Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families. J Med Genet 11/06/2019 10.1136/jmedgenet-2019-106072 31186341