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Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction.
Breast Cancer Res
December 2024
Biostatistics Unit, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, Nicosia, Cyprus.
Background: The 313-variant polygenic risk score (PRS) provides a promising tool for clinical breast cancer risk prediction. However, evaluation of the PRS across different European populations which could influence risk estimation has not been performed.
Methods: We explored the distribution of PRS across European populations using genotype data from 94,072 females without breast cancer diagnosis, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 223,316 females without breast cancer diagnosis from the UK Biobank.
Elevated cerebrospinal fluid biomarkers of neuroinflammation and neuronal damage in essential hypertension with secondary insomnia: Implications for Alzheimer's disease risk.
Brain Behav Immun
December 2024
Beijing Hui-Long-Guan Hospital, Peking University, Beijing 100096, China. Electronic address:
Essential hypertension (EH) with secondary insomnia is associated with increased risks of neuroinflammation, neuronal damage, and Alzheimer's disease (AD). However, its relationship with specific cerebrospinal fluid (CSF) biomarkers of neuronal damage and neuroinflammation remains unclear. This case-control study compared CSF biomarker levels across three groups: healthy controls (HC, n = 64), hypertension-controlled (HTN-C, n = 54), and hypertension-uncontrolled (HTN-U, n = 107) groups, all EH participants experiencing secondary insomnia.
View Article and Find Full Text PDFEvaluating the Use of Environmental and Polygenic Risk Scores to Inform Colorectal Cancer Risk-Based Surveillance Intervals.
Clin Transl Gastroenterol
December 2024
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.
Introduction: United States Multi-Society Task Force colonoscopy surveillance intervals are based solely on adenoma characteristics, without accounting for other risk factors. We investigated whether a risk model including demographic, environmental, and genetic risk factors could individualize surveillance intervals under an "equal management of equal risks" framework.
Methods: Using 14,069 individuals from the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial who had a diagnostic colonoscopy following an abnormal flexible sigmoidoscopy, we modeled the risk of colorectal cancer, considering the diagnostic colonoscopy finding, baseline risk factors (e.
Evaluating the impact of modeling choices on the performance of integrated genetic and clinical models.
Genet Med
December 2024
Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN; Center for Digital Genomic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN; Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center, Nashville, TN. Electronic address:
Purpose: The value of genetic information for improving the performance of clinical risk prediction models has yielded variable conclusions. Many methodological decisions have the potential to contribute to differential results. We performed multiple modeling experiments integrating clinical and demographic data from electronic health records (EHR) with genetic data to understand which decisions may affect performance.
View Article and Find Full Text PDFEstimating the Genetic Risk of First-Degree Relatives for Chronic Diseases Using the Short Tandem Repeat Score as Model of Polygenic Inheritance.
Biochem Genet
December 2024
College of Medical Laboratory, Dalian Medical University, Dalian, 116044, People's Republic of China.
This study aims to establish a genetic risk assessment model based on a score of short tandem repeats (STRs) of polygenic inheritance. A total of 396 children and their biological parents were collected for STR genotyping. The numbers of tandem repeats of two alleles in one STR locus were assumed to be a quantitative genetic strength for disease incidence.
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