Advances and applications of polygenic scores for coronary artery disease

AP Patel, AV Khera - Annual Review of Medicine, 2023‏ - annualreviews.org
Polygenic scores quantify inherited risk by integrating information from many common sites
of DNA variation into a single number. Rapid increases in the scale of genetic association …

A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease

AP Patel, M Wang, Y Ruan, S Koyama, SL Clarke… - Nature Medicine, 2023‏ - nature.com
Identification of individuals at highest risk of coronary artery disease (CAD)—ideally before
onset—remains an important public health need. Prior studies have developed genome …

Multi-ancestry polygenic mechanisms of type 2 diabetes

K Smith, AJ Deutsch, C McGrail, H Kim, S Hsu… - Nature medicine, 2024‏ - nature.com
Abstract Type 2 diabetes (T2D) is a multifactorial disease with substantial genetic risk, for
which the underlying biological mechanisms are not fully understood. In this study, we …

Genetically transitional disease: a new concept in genomic medicine

Q Yao, P Gorevic, B Shen, G Gibson - Trends in Genetics, 2023‏ - cell.com
Traditional classification of genetic diseases as monogenic and polygenic has lagged far
behind scientific progress. In this opinion article, we propose and define a new terminology …

UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits

DJ Thompson, D Wells, S Selzam, I Peneva, R Moore… - MedRxiv, 2022‏ - medrxiv.org
We present and assess the UK Biobank (UKB) Polygenic Risk Score (PRS) Release, a set of
PRSs for 28 diseases and 25 quantitative traits being made available on the individuals in …

Lp (a)(lipoprotein [a]) concentrations and incident atherosclerotic cardiovascular disease: new insights from a large national biobank

AP Patel, M Wang, JP Pirruccello… - … , and vascular biology, 2021‏ - ahajournals.org
Objective: Lp (a)(lipoprotein [a]) concentrations are associated with atherosclerotic
cardiovascular disease (ASCVD), and new therapies that enable potent and specific …

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

AC Fahed, M Wang, JR Homburger, AP Patel… - Nature …, 2020‏ - nature.com
Genetic variation can predispose to disease both through (i) monogenic risk variants that
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …

A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release

DJ Thompson, D Wells, S Selzam, I Peneva, R Moore… - Plos one, 2024‏ - journals.plos.org
We assess the UK Biobank (UKB) Polygenic Risk Score (PRS) Release, a set of PRSs for 28
diseases and 25 quantitative traits that has been made available on the individuals in UKB …

Validation of a genome-wide polygenic score for coronary artery disease in South Asians

M Wang, R Menon, S Mishra, AP Patel… - Journal of the American …, 2020‏ - jacc.org
Background Genome-wide polygenic scores (GPS) integrate information from many
common DNA variants into a single number. Because rates of coronary artery disease …