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Use of Polygenic Risk Scores for Coronary Heart Disease in Ancestrally Diverse Populations.
Dikilitas O, Schaid DJ, Tcheandjieu C, Clarke SL, Assimes TL, Kullo IJ. Dikilitas O, et al. Curr Cardiol Rep. 2022 Sep;24(9):1169-1177. doi: 10.1007/s11886-022-01734-0. Epub 2022 Jul 7. Curr Cardiol Rep. 2022. PMID: 35796859 Free PMC article. Review.
PURPOSE OF REVIEW: A polygenic risk score (PRS) is a measure of genetic liability to a disease and is typically normally distributed in a population. Individuals in the upper tail of this distribution often have relative risk equiv …
PURPOSE OF REVIEW: A polygenic risk score (PRS) is a measure of genetic liability to a disease and is typ …
Large-scale genome-wide association study of coronary artery disease in genetically diverse populations.
Tcheandjieu C, Zhu X, Hilliard AT, Clarke SL, Napolioni V, Ma S, Lee KM, Fang H, Chen F, Lu Y, Tsao NL, Raghavan S, Koyama S, Gorman BR, Vujkovic M, Klarin D, Levin MG, Sinnott-Armstrong N, Wojcik GL, Plomondon ME, Maddox TM, Waldo SW, Bick AG, Pyarajan S, Huang J, Song R, Ho YL, Buyske S, Kooperberg C, Haessler J, Loos RJF, Do R, Verbanck M, Chaudhary K, North KE, Avery CL, Graff M, Haiman CA, Le Marchand L, Wilkens LR, Bis JC, Leonard H, Shen B, Lange LA, Giri A, Dikilitas O, Kullo IJ, Stanaway IB, Jarvik GP, Gordon AS, Hebbring S, Namjou B, Kaufman KM, Ito K, Ishigaki K, Kamatani Y, Verma SS, Ritchie MD, Kember RL, Baras A, Lotta LA; Regeneron Genetics Center; CARDIoGRAMplusC4D Consortium; Biobank Japan; Million Veteran Program; Kathiresan S, Hauser ER, Miller DR, Lee JS, Saleheen D, Reaven PD, Cho K, Gaziano JM, Natarajan P, Huffman JE, Voight BF, Rader DJ, Chang KM, Lynch JA, Damrauer SM, Wilson PWF, Tang H, Sun YV, Tsao PS, O'Donnell CJ, Assimes TL. Tcheandjieu C, et al. Nat Med. 2022 Aug;28(8):1679-1692. doi: 10.1038/s41591-022-01891-3. Epub 2022 Aug 1. Nat Med. 2022. PMID: 35915156 Free PMC article.
We document near equivalent heritability of CAD across multiple ancestral groups, identify 95 novel loci, including nine on the X chromosome, detect eight loci of genome-wide significance in Black and Hispanic individuals, and demonstrate that two common haplotypes …
We document near equivalent heritability of CAD across multiple ancestral groups, identify 95 novel loci, including nine on th …
Cardiovascular Disease Risk Assessment Using Traditional Risk Factors and Polygenic Risk Scores in the Million Veteran Program.
Vassy JL, Posner DC, Ho YL, Gagnon DR, Galloway A, Tanukonda V, Houghton SC, Madduri RK, McMahon BH, Tsao PS, Damrauer SM, O'Donnell CJ, Assimes TL, Casas JP, Gaziano JM, Pencina MJ, Sun YV, Cho K, Wilson PWF. Vassy JL, et al. JAMA Cardiol. 2023 Jun 1;8(6):564-574. doi: 10.1001/jamacardio.2023.0857. JAMA Cardiol. 2023. PMID: 37133828 Free PMC article.
IMPORTANCE: Primary prevention of atherosclerotic cardiovascular disease (ASCVD) relies on risk stratification. Genome-wide polygenic risk scores (PRSs) are proposed to improve ASCVD risk estimation. OBJECTIVE: To determine whether genome …
IMPORTANCE: Primary prevention of atherosclerotic cardiovascular disease (ASCVD) relies on risk stratification. Genome-wide …
Current State and Future of Polygenic Risk Scores in Cardiometabolic Disease: A Scoping Review.
Phulka JS, Ashraf M, Bajwa BK, Pare G, Laksman Z. Phulka JS, et al. Circ Genom Precis Med. 2023 Jun;16(3):286-313. doi: 10.1161/CIRCGEN.122.003834. Epub 2023 Apr 10. Circ Genom Precis Med. 2023. PMID: 37035923 Review.
A polygenic risk score (PRS) is derived from a genome-wide association study and represents an aggregate of thousands of single-nucleotide polymorphisms that provide a baseline estimate of an individual's genetic risk for a specific disease
A polygenic risk score (PRS) is derived from a genome-wide association study and represents an aggregate of thousands o …
Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization.
Smith JL, Tcheandjieu C, Dikilitas O, Iyer K, Miyazawa K, Hilliard A, Lynch J, Rotter JI, Chen YI, Sheu WH, Chang KM, Kanoni S, Tsao P, Ito K, Kosel M, Clarke SL, Schaid DJ, Assimes TL, Kullo IJ. Smith JL, et al. Circ Genom Precis Med. 2024 Feb 21:e004272. doi: 10.1161/CIRCGEN.123.004272. Online ahead of print. Circ Genom Precis Med. 2024. PMID: 38380516
BACKGROUND: Predictive performance of polygenic risk scores (PRS) varies across populations. To facilitate equitable clinical use, we developed PRS for coronary heart disease (CHD; PRS(CHD)) for 5 genetic ancestry groups
BACKGROUND: Predictive performance of polygenic risk scores (PRS) varies across populations. To facilitate equit …
A Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization.
Smith JL, Tcheandjieu C, Dikilitas O, Lyer K, Miyazawa K, Hilliard A, Lynch J, Rotter JI, Chen YI, Sheu WH, Chang KM, Kanoni S, Tsao P, Ito K, Kosel M, Clarke SL, Schaid DJ, Assimes TL, Kullo IJ. Smith JL, et al. medRxiv [Preprint]. 2023 Jun 6:2023.06.02.23290896. doi: 10.1101/2023.06.02.23290896. medRxiv. 2023. PMID: 37609230 Free PMC article. Updated. Preprint.
BACKGROUND: Predictive performance of polygenic risk scores (PRS) varies across populations. To facilitate equitable clinical use, we developed PRS for coronary heart disease (PRS(CHD)) for 5 genetic ancestry groups. …
BACKGROUND: Predictive performance of polygenic risk scores (PRS) varies across populations. To facilitate equit …
Ancestral diversity in lipoprotein(a) studies helps address evidence gaps.
Lee MP, Dimos SF, Raffield LM, Wang Z, Ballou AF, Downie CG, Arehart CH, Correa A, de Vries PS, Du Z, Gignoux CR, Gordon-Larsen P, Guo X, Haessler J, Howard AG, Hu Y, Kassahun H, Kent ST, Lopez JAG, Monda KL, North KE, Peters U, Preuss MH, Rich SS, Rhodes SL, Yao J, Yarosh R, Tsai MY, Rotter JI, Kooperberg CL, Loos RJF, Ballantyne C, Avery CL, Graff M. Lee MP, et al. Open Heart. 2023 Aug;10(2):e002382. doi: 10.1136/openhrt-2023-002382. Open Heart. 2023. PMID: 37648373 Free PMC article.
INTRODUCTION: The independent and causal cardiovascular disease risk factor lipoprotein(a) (Lp(a)) is elevated in >1.5 billion individuals worldwide, but studies have prioritised European populations. METHODS: Here, we examined how ancestrally di
INTRODUCTION: The independent and causal cardiovascular disease risk factor lipoprotein(a) (Lp(a)) is elevated in >1.5 bill …
Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores.
Homburger JR, Neben CL, Mishne G, Zhou AY, Kathiresan S, Khera AV. Homburger JR, et al. Genome Med. 2019 Nov 26;11(1):74. doi: 10.1186/s13073-019-0682-2. Genome Med. 2019. PMID: 31771638 Free PMC article.
The traditional approach requires two distinct genetic testing technologies-high coverage sequencing of known genes to detect monogenic variants and a genome-wide genotyping array followed by imputation to calculate genome-wide polygenic scores (GPSs). ...Thi …
The traditional approach requires two distinct genetic testing technologies-high coverage sequencing of known genes to detect monogen …