Results 21 to 30 of about 32,760 (257)

Twelve Variants Polygenic Score for Low‐Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Background A significant proportion of individuals clinically diagnosed with familial hypercholesterolemia (FH), but without any disease‐causing mutation, are likely to have polygenic hypercholesterolemia.
Elena Olmastroni, Marta Gazzotti, Marcello Arca, Maurizio Averna, Angela Pirillo, Alberico Luigi Catapano, Manuela Casula   +6 more
doaj   +1 more source

Construction and Application of Polygenic Risk Scores in Autoimmune Diseases

Frontiers in Immunology, 2022
Genome-wide association studies (GWAS) have identified hundreds of genetic variants associated with autoimmune diseases and provided unique mechanistic insights and informed novel treatments.
Chachrit Khunsriraksakul, Chachrit Khunsriraksakul, Havell Markus, Havell Markus, Nancy J. Olsen, Laura Carrel, Bibo Jiang, Dajiang J. Liu, Dajiang J. Liu   +8 more
doaj   +1 more source

Polygenic risk score: use in migraine research

The Journal of Headache and Pain, 2018
Background The latest Genome-Wide Association Study identified 38 genetic variants associated with migraine. In this type of studies the significance level is very difficult to achieve (5 × 10− 8) due to multiple testing.
Mona Ameri Chalmer, Ann-Louise Esserlind, Jes Olesen, Thomas Folkmann Hansen   +3 more
doaj   +1 more source

Design and user experience testing of a polygenic score report: a qualitative study of prospective users

BMC Medical Genomics, 2021
Background Polygenic scores—which quantify inherited risk by integrating information from many common sites of DNA variation—may enable a tailored approach to clinical medicine. However, alongside considerable enthusiasm, we and others have highlighted a
Deanna G. Brockman, Lia Petronio, Jacqueline S. Dron, Bum Chul Kwon, Trish Vosburg, Lisa Nip, Andrew Tang, Mary O’Reilly, Niall Lennon, Bang Wong, Kenney Ng, Katherine H. Huang, Akl C. Fahed, Amit V. Khera   +13 more
doaj   +1 more source

A multi-ethnic polygenic risk score is associated with hypertension prevalence and progression throughout adulthood

Nature Communications, 2022
Polygenic risk scores have potential to predict an individual’s risk of disease based on genetic markers. Here, the authors develop a polygenic risk score for hypertension and test it in a multi-ethnic cohort, finding that the score is associated with ...
Nuzulul Kurniansyah, Matthew O. Goodman, Tanika N. Kelly, Tali Elfassy, Kerri L. Wiggins, Joshua C. Bis, Xiuqing Guo, Walter Palmas, Kent D. Taylor, Henry J. Lin, Jeffrey Haessler, Yan Gao, Daichi Shimbo, Jennifer A. Smith, Bing Yu, Elena V. Feofanova, Roelof A. J. Smit, Zhe Wang, Shih-Jen Hwang, Simin Liu, Sylvia Wassertheil-Smoller, JoAnn E. Manson, Donald M. Lloyd-Jones, Stephen S. Rich, Ruth J. F. Loos, Susan Redline, Adolfo Correa, Charles Kooperberg, Myriam Fornage, Robert C. Kaplan, Bruce M. Psaty, Jerome I. Rotter, Donna K. Arnett, Alanna C. Morrison, Nora Franceschini, Daniel Levy, the NHLBI Trans-Omics in Precision Medicine (TOPMed) Consortium, Tamar Sofer   +37 more
doaj   +1 more source

Polygenic risk scores

Seminars in Arthritis and Rheumatism
Polygenic risk scores (PRS) estimate an individual's genetic risk for a disease or trait compared to a matched population. For many rheumatic diseases PRS have been developed that have discriminatory capacity better than some widely used biomarkers, and in some cases are the most discriminatory tests available.
Brian T. Palmisano, Joshua W. Knowles
  +6 more sources

Polygenic transcriptome risk scores (PTRS) can improve portability of polygenic risk scores across ancestries [PDF]

Genome Biology, 2022
Abstract Background Polygenic risk scores (PRS) are valuable to translate the results of genome-wide association studies (GWAS) into clinical practice. To date, most GWAS have been based on individuals of European-ancestry leading to poor performance in populations of non-European ancestry.
Yanyu Liang, Milton Pividori, Ani Manichaikul, Abraham A. Palmer, Nancy J. Cox, Heather E. Wheeler, Hae Kyung Im   +6 more
openaire   +4 more sources

GenoRisk: A polygenic risk score for Alzheimer's disease

Alzheimer’s & Dementia: Translational Research & Clinical Interventions, 2021
Introduction Recent clinical trials are considering inclusion of more than just apolipoprotein E (APOE) ε4 genotype as a way of reducing variability in analysis of outcomes.
Samuel P. Dickson, Suzanne B. Hendrix, Bruce L. Brown, Perry G. Ridge, Jessie Nicodemus‐Johnson, Marci L. Hardy, Allison M. McKeany, Steven B. Booth, Ryan R. Fortna, John S.K. Kauwe, NIAGADS   +10 more
doaj   +1 more source

Polygenic Risk Scores Expand to Obesity [PDF]

Cell, 2019
Obesity is one of the most serious health challenges of our time. In this issue of Cell, Khera and co-authors demonstrate the striking ability of genetics, in the form of a polygenic risk score, to identify those individuals at high risk for obesity.
Ali, Torkamani, Eric, Topol
openaire   +2 more sources

A polygenic risk score for multiple myeloma risk prediction [PDF]

European Journal of Human Genetics, 2021
AbstractThere is overwhelming epidemiologic evidence that the risk of multiple myeloma (MM) has a solid genetic background. Genome-wide association studies (GWAS) have identified 23 risk loci that contribute to the genetic susceptibility of MM, but have low individual penetrance. Combining the SNPs in a polygenic risk score (PRS) is a possible approach
Federico Canzian, Chiara Piredda, Angelica Macauda, Daria Zawirska, Niels Frost Andersen, Arnon Nagler, Jan Maciej Zaucha, Grzegorz Mazur, Charles Dumontet, Marzena Wątek, Krzysztof Jamroziak, Juan Sainz, Judit Várkonyi, Aleksandra Butrym, Katia Beider, Niels Abildgaard, Fabienne Lesueur, Marek Dudziński, Annette Juul Vangsted, Matteo Pelosini, Edyta Subocz, Mario Petrini, Gabriele Buda, Małgorzata Raźny, Federica Gemignani, Herlander Marques, Enrico Orciuolo, Katalin Kadar, Artur Jurczyszyn, Agnieszka Druzd-Sitek, Ulla Vogel, Vibeke Andersen, Rui Manuel Reis, Anna Suska, Hervé Avet-Loiseau, Marcin Kruszewski, Waldemar Tomczak, Marcin Rymko, Stephane Minvielle, Daniele Campa   +39 more
openaire   +9 more sources