Results 81 to 90 of about 40,214 (287)

Interplay between lifestyle factors and polygenic risk for incident coronary heart disease in a large multiethnic cohort

International Journal of Cardiology. Cardiovascular Risk and Prevention
Introduction: The objective of this study was to examine the interplay of polygenic risk and individual lifestyle factors (and a composite score of lifestyle) as antecedents of CHD in a large multiethnic cohort.
Carlos Iribarren, Meng Lu, Martha Gulati, Nathan D. Wong, Roberto Elosua, Jamal S. Rana   +5 more
doaj   +1 more source

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

Variability of polygenic prediction for body mass index in Africa

Genome Medicine
Background Polygenic prediction studies in continental Africans are scarce. Africa’s genetic and environmental diversity pose a challenge that limits the generalizability of polygenic risk scores (PRS) for body mass index (BMI) within the continent ...
Tinashe Chikowore, Kristi Läll, Lisa K. Micklesfield, Zane Lombard, Julia H. Goedecke, Segun Fatumo, Shane A. Norris, Reedik Magi, Michele Ramsay, Paul W. Franks, Guillaume Pare, Andrew P. Morris   +11 more
doaj   +1 more source

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self‐limited infantile epilepsy by trios whole‐exome sequencing

Epilepsia Open, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) and self‐limited infantile epilepsy (SeLIE) are both genetically heterogeneous disorders during infancy with distinct prognoses. To better define the genetic spectrum of IESS, we performed a comparative genetic analysis using SeLIE cases as a reference group. Methods We performed whole‐exome
Yihong Sun, Ningning Chen, Congjie Chen, Weitian Lu, Qian Wan, Tingsong Li, Yupeng Cun   +6 more
wiley   +1 more source

eP180: Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases [PDF]

, 2022
Tianyuan Lu, Celia M.T. Greenwood
openalex   +1 more source

Multi‐Cohort Analysis Reveals Genetic Predispositions to Clonal Hematopoiesis as Mutation‐Specific Risk Factors for Stroke

Advanced Genetics, Volume 6, Issue 1, March 2025.
This study comprehensively evaluated the differential effect of clonal hematopoiesis (CH) mutations on the risk of various stroke subtypes and functional recovery. It shows that TET2 is associated with small vessel stroke possibly via a pro‐inflammatory pathway. Abstract Recent observational studies have found an association between Clonal Hematopoesis
Shuyang Lin, Yang E. Li, Yan Wang
wiley   +1 more source

Post‐GWAS Polygenic Risk Score: Utility and Challenges

JBMR Plus, 2020
Over the past decade, through genome‐wide association studies, more than 300 genetic variants have been identified to be associated with either BMD or fracture risk.
Tuan V Nguyen, John A Eisman
doaj   +1 more source

Predicting alcohol use from genome-wide polygenic scores, environmental factors, and their interactions in young adulthood [PDF]

, 2020
Radhika Kandaswamy, Andrea G. Allegrini, Alexandra F. Nancarrow, Sophie Nicole Cave, Robert Plomin, Sophie von Stumm   +5 more
openalex   +1 more source

Computational modeling of the N-Back task in the ABCD study: associations of drift diffusion model parameters to polygenic scores of mental disorders and cardiometabolic diseases

, 2021
Mads L. Pedersen, Dag Alnæs, Dennis van der Meer, SARA RUIZ FERNÁNDEZ, Pierre Berthet, Andreas Dahl, Rikka Kjelkenes, Schwarz Emanuel, Wesley K. Thompson, Deanna M. Barch, Ole A. Andreassen, Lars T. Westlye   +11 more
openalex   +2 more sources

Polygenic risk score and prostate specific antigen predict death from prostate cancer in men with intermediate aggressive cancer

International Journal of Cancer, EarlyView.
What's New? Using 21 SNPs, two novel PRS were constructed and used to develop two new machine‐learning classifiers, one for the detection of prostate cancer and the other for the prediction of its aggressiveness and subsequent mortality. The classifier for disease detection is built using the PRS as the sole feature, whereas the one for disease ...
Leandro Rodrigues Santiago, Efthymios Ladoukakis, Dorota Scibior‐Bentkowska, Belinda Nedjai   +3 more
wiley   +1 more source