Results 171 to 180 of about 31,405 (257)

Leisure‐Time Physical Activity on Age‐Modelled Trajectories of Body Mass Index and Obesity Risk Throughout Life: Multivariable Regression and Mendelian Randomization Analyses Using Electronic Health Record Data From the CORDELIA‐Catalunya Study

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims To assess whether self‐reported leisure‐time physical activity, moderate‐to‐vigorous leisure‐time physical activity, and genetically determined cardiorespiratory fitness are associated with age‐related BMI trajectories and incident obesity. Methods We pooled 14 993 adults (30–90 years; 52.7% women; cohorts: REGICOR‐ACRISC, ILERVAS, ARTPER)
Javier Hernando‐Redondo, Anna Camps‐Vilaró, Roberto Elosua, Eleonora Fornara, Marcelino Bermúdez‐López, Pere Torán‐Monserrat, Ainara Jiménez‐Navarro, José M. Valdivielso, Víctor M. López‐Lifante, Tomàs Salas‐Fernández, Serafí Cambray, Raquel Cruz, Jaume Marrugat, Álvaro Hernáez   +13 more
wiley   +1 more source

Harnessing Polygenic Risk Scores to Refine Venous Thromboembolism Risk Stratification

European Journal of Haematology, EarlyView.
ABSTRACT Background Venous thromboembolism (VTE) is a major cause of morbidity in patients of all ages. Despite growing interest in polygenic risk scores (PRS) for VTE, their utility remains understudied. Our objective was to evaluate the independent impact of a PRS on VTE susceptibility in adults and children.
Katlyn G. McKay, Oliver S. Zhao, Samaya S. Badrieh, Lisa Bastarache, Xinnan Niu, Jing He, Prince J. Kannankeril, Jamie R. Robinson   +7 more
wiley   +1 more source

Polygenic risk score-guided personalized osteoporosis screening: a population-based study. [PDF]

BMC Med
Wang D, Sun W, Liu D, Yi H, Wang X, Li X, Ji J.   +6 more
europepmc   +1 more source

TOP1MT rs2293925 is an enhancer‐active regulatory SNP that shapes mitochondrial R‐loop dynamics

The FEBS Journal, EarlyView.
This study shows how a common genetic variant of mitochondrial topoisomerase 1 (TOP1MT rs2293925) can influence mitochondrial gene regulation, DNA topology, and formation of noncanonical nucleic acid structures such as R‐loops. By linking this enhancer‐active variant to mitochondrial nucleic acid stress in cellular contexts relevant to amyotrophic ...
Dóra Varga, Zsolt Ráduly, Beáta Boros‐Oláh, Éva Nagy, Zsolt Karányi, László Halász, Bálint László Bálint, György Vámosi, Emese Tóth, Péter Bai, Serena Santangelo, Patrizia Bossolasco, Antonia Ratti, Vincent Géli, Yves Pommier, Lóránt Székvölgyi   +15 more
wiley   +1 more source

Polygenic risk score refines cardiovascular disease risk in individuals with type 2 diabetes at borderline or intermediate risk. [PDF]

J Diabetes Investig
Choi J, Lee H, Rhee TM, Park JB, Kwak SH.   +4 more
europepmc   +1 more source

Neoplasm Polygenic Risk Score [PDF]

, 2020
openaire   +1 more source

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source

Sparse polygenic risk score inference with the spike-and-slab LASSO. [PDF]

Bioinformatics
Song J, Zabad S, Yang A, Gravel S, Li Y.
europepmc   +1 more source

Selective IL‐23 Inhibition in Conventional Treatment‐Refractory Pyoderma Gangrenosum: A Multicenter, Retrospective Study

International Journal of Dermatology, EarlyView.
The clinical effects of selective IL‐23 inhibition in refractory pyoderma gangrenosum, highlighting progressive ulcer healing, reduction in inflammation and pain, and steroid‐sparing effect, supporting the role of the IL‐23/Th17 axis as a therapeutic target.
Luca Bettolini, Carlo Alberto Maronese, Federica Derlino, Giovanni Genovese, Chiara Moltrasio, Luisa Sarno, Stefano Buffon, Bianca Cei, Giammarco Granieri, Valentina Dini, Marco Romanelli, Vincenzo Maione, Stefano Bighetti, Marina Venturini, Edoardo Cammarata, Paola Savoia, Antonio Di Guardo, Luigi Gargiulo, Ruggero Cascio Ingurgio, Antonio Costanzo, Lorenza Burzi, Claudia Leporati, Nunzia Di Cristo, Nicola Zerbinati, Alex G. Ortega‐Loayza, Angelo Valerio Marzano   +25 more
wiley   +1 more source

Recommendations for responsible use of population descriptors in polygenic risk score development. [PDF]

Nat Genet
Smith JL, Adebamowo CA, Adebamowo SN, Darst BF, Fullerton SM, Gogarten SM, Hamed ME, Hirbo JB, Hysong MR, Johar AS, Khan AT, Kullo IJ, Konigsberg IR, Kraft P, Lange LA, Li Y, Martin AR, Nelson SC, Choudhury A, Ramsay M, Cobran EK, Schaid DJ, Sharma J, Wang Y, Wojcik GL, Polygenic Risk Methods Development (PRIMED) Consortium, Sun Q.   +26 more
europepmc   +1 more source