Results 41 to 50 of about 1,650,847 (244)

Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolemia: A Propensity Score Analysis

Life, 2020
Background: The monogenic defect in familial hypercholesterolemia (FH) is detected in ∼40% of cases. The majority of mutation-negative patients have a polygenic cause of high LDL-cholesterol (LDL-C).
Agnieszka Mickiewicz, Marta Futema, Agnieszka Ćwiklinska, Agnieszka Kuchta, Maciej Jankowski, Mariusz Kaszubowski, Magdalena Chmara, Bartosz Wasąg, Marcin Fijałkowski, Miłosz Jaguszewski, Steve E. Humphries, Marcin Gruchała   +11 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

Conditionally Significant eQTL and TWAS Analyses Identify MsRD26 as a Major Candidate Positive Regulator of Salt Tolerance in Medicago sativa L

Advanced Science, EarlyView.
Salt stress significantly impacts plant growth. Through population transcriptome, eQTL and TWAS analyses, we identified several candidate genes potentially associated with salt stress response. Functional assays suggested that some of these genes may contribute to salt tolerance.
Lin Chen, Yuqi Zhang, Xinyue Ma, Jinpeng Bi, Fei He, Li Zhao, Haiyue Lei, Zhengqin Xiao, Xue Wang, Tiejun Zhang, Ruicai Long, Junmei Kang, Qingchuan Yang   +12 more
wiley   +1 more source

Admixture-informed polygenic risk reporting using the ePRS framework

Nature Communications
Polygenic risk score values vary with genetic ancestry due to differences in population-specific allele frequencies and linkage disequilibrium patterns. We present a framework to calibrate polygenic risk scores based on ancestral makeup.
Yu-Jyun Huang, Nuzulul Kurniansyah, Matthew O. Goodman, Brian W. Spitzer, Jiongming Wang, Adrienne Stilp, Cecelia Laurie, Paul S. de Vries, Han Chen, Yuan-I Min, Mario Sims, Gina M. Peloso, Xiuqing Guo, Joshua C. Bis, Jennifer A. Brody, Laura M. Raffield, Jennifer A. Smith, Wei Zhao, Jerome I. Rotter, Stephen S. Rich, Susan Redline, Myriam Fornage, Robert Kaplan, Nora Franceschini, Daniel Levy, Alanna C. Morrison, Eric Boerwinkle, Nicholas L. Smith, Charles Kooperberg, Bruce M. Psaty, Sebastian Zöllner, the Trans-Omics for Precision Medicine Consortium, Tamar Sofer   +32 more
doaj   +1 more source

Polygenic risk score for CAD related traits.

, 2016
The table shows the number of known SNPs, number of SNPs present in the current data set (#SNPs included), and resulting p-value for the polygenic score.
Khalid Al Faraidy (2157835), Alhusain Alzahrani (2157826), Amein Al-Ali (2157853), Abdullah M. Alshehri (2157844), Issa Al Aqaili (2157850), Rudaynah Al-Ali (2157832), Carolien G. de Kovel (583607), Abdullah Al-Rubaish (2157838), Bobby P. C. Koeleman (168543), Ruben van ‘t Slot (2157841), Abdullah Al-Ali (2157823), Mohammed Al-Madan (2157829), Emmanuel Larbi (2157847), Folkert W. Asselbergs (113684), Flip Mulder (155461), Jessica van Setten (802551)   +15 more
core   +1 more source

A Facial Foundation Model for Clinical Biomarker Prediction and Real‐World Mobile Deployment

Advanced Science, EarlyView.
MedicalFaceFound is a facial foundation model developed through three‐stage progressive pre‐training, adapting representations from general vision to facial structure and clinical phenotypes. Using a single facial image, it estimates 62 biomarkers across multiple physiological systems and supports downstream risk prediction for cardiovascular ...
Tingfeng Xu, Huixuan Xu, Li Lin, Fei Wang, Yaodong Ding, Shuangqiao Liao, Xingyu Chen, Jichen Wen, Hongqiang Zhao, Jing Hao, Weixiang Zhao, Gong Zhang, Shiguang Shan, Yong Zeng, Hu Han, Minxian Wang   +15 more
wiley   +1 more source

Risk of type 2 diabetes according to categories of the 5 pathway-specific polygenic score diet quality.

, 2022
Shown are multivariable-adjusted HRs and 95% CI of the estimate for type 2 diabetes incidence according to pathway-specific polygenic score and diet quality categories.
Liming Liang (69800), Qi Sun (127), Wonil Chung (5209091), Jun Li (6494), Jose C. Florez (8811083), Jae H. Kang (7832345), Yanping Li (90163), Yang Hu (315392), Jordi Merino (10208466), Walter C. Willet (12462831), Frank B. Hu (8909476), Baoshan Ma (6477869), JoAnn E. Manson (9167155), Peter Kraft (15118), Marta Guasch-Ferré (311713), Paul W. Franks (7703417)   +15 more
core   +1 more source

Global trajectories of polygenic risk score research: a systematic bibliometric review of precision medicine, equity, and clinical translation

Frontiers in Medicine
IntroductionPolygenic risk scores (PRS) have emerged as a central tool in genomic medicine, enabling risk prediction for common, complex diseases. Despite rapid methodological and clinical advances, concerns remain regarding the structural organization ...
Fouad Bitar, Fouad Bitar, Rana Zareef, Roukoz Abou-Karam, Roukoz Abou-Karam, Georges Nemer, Fadi F. Bitar, Akl C. Fahed, Akl C. Fahed, Akl C. Fahed, Zahi Abdul Sater   +10 more
doaj   +1 more source

Microglial-expressed genetic risk variants, cognitive function and brain volume in patients with schizophrenia and healthy controls

Translational Psychiatry, 2021
Changes in immune function are associated with variance in cognitive functioning in schizophrenia. Given that microglia are the primary innate immune cells in the brain, we examined whether schizophrenia risk-associated microglial genes (measured via ...
Emma Corley, Laurena Holleran, Laura Fahey, Aiden Corvin, Derek W. Morris, Gary Donohoe   +5 more
doaj   +1 more source

Structural Variants in the Human Genome Associated With Gut Microbiome and Blood Metabolic Traits With Potential Causal Links

Advanced Science, EarlyView.
Based on a multi‐omics cohort of 2002 individuals comprising high‐depth whole‐genome and metagenomic sequencing data, blood metabolites, and detailed questionnaires, we identified 138 859 high‐confidence SVs, uncovering 36 significant SV–microbiome associations and 48 SV–blood metabolite associations.
Qun Zhou, Keqing Wang, Junhong Chen, Haoyu Wang, Xinjiang Tan, Xuanlin Huang, Zhiyin Lin, Xun Xu, Xin Jin, Shaoqiao Zhang, Liang Xiao, Yuanqiang Zou, Tao Zhang, Xiaomin Liu   +13 more
wiley   +1 more source