Results 81 to 90 of about 6,040 (161)

Genome-wide association studies reveal differences in genetic susceptibility between single events vs. recurrent events of atrial fibrillation and myocardial infarction: the HUNT study

Frontiers in Cardiovascular Medicine
Genetic research into atrial fibrillation (AF) and myocardial infarction (MI) has predominantly focused on comparing afflicted individuals with their healthy counterparts.
Martina Hall, Martina Hall, Anne Heidi Skogholt, Ida Surakka, Haavard Dalen, Haavard Dalen, Haavard Dalen, Eivind Almaas, Eivind Almaas   +8 more
doaj   +1 more source

Identifying potential causal effects of Parkinson’s disease: A polygenic risk score-based phenome-wide association and mendelian randomization study in UK Biobank

npj Parkinson's Disease
There is considerable uncertainty regarding the associations between various risk factors and Parkinson’s Disease (PD). This study systematically screened and validated a wide range of potential PD risk factors from 502,364 participants in the UK Biobank.
Changhe Shi, Dongrui Ma, Mengjie Li, Zhiyun Wang, Chenwei Hao, Yuanyuan Liang, Yanmei Feng, Zhengwei Hu, Xiaoyan Hao, Mengnan Guo, Shuangjie Li, Chunyan Zuo, Yuemeng Sun, Mibo Tang, Chengyuan Mao, Chan Zhang, Yuming Xu, Shilei Sun   +17 more
doaj   +1 more source

Disease associations depend on visit type: results from a visit-wide association study

BioData Mining, 2019
Introduction Widespread adoption of Electronic Health Records (EHR) increased the number of reported disease association studies, or Phenome-Wide Association Studies (PheWAS).
Mary Regina Boland, Snigdha Alur-Gupta, Lisa Levine, Peter Gabriel, Graciela Gonzalez-Hernandez   +4 more
doaj   +1 more source

11 Novel Systematic Method for Identifying Congenital Anomaly Cases in Electronic Health Record Databases

Journal of Clinical and Translational Science
OBJECTIVES/GOALS: Congenital anomalies (CAs) affect 3% of live births, yet the cause of 80% of CAs is unknown and for the 20% with an identified cause, variability in penetrance suggests additional risk drivers exist.
Elly Brokamp, Lisa Bastarache, Nancy Cox, Rizwan Hamid, Nikhil K. Khanakari, Gillian Hooker, Megan Shuey   +6 more
doaj   +1 more source

Exploring various polygenic risk scores for skin cancer in the phenomes of the Michigan genomics initiative and the UK Biobank with a visual catalog: PRSWeb.

PLoS Genetics, 2019
Polygenic risk scores (PRS) are designed to serve as single summary measures that are easy to construct, condensing information from a large number of genetic variants associated with a disease.
Lars G Fritsche, Lauren J Beesley, Peter VandeHaar, Robert B Peng, Maxwell Salvatore, Matthew Zawistowski, Sarah A Gagliano Taliun, Sayantan Das, Jonathon LeFaive, Erin O Kaleba, Thomas T Klumpner, Stephanie E Moser, Victoria M Blanc, Chad M Brummett, Sachin Kheterpal, Gonçalo R Abecasis, Stephen B Gruber, Bhramar Mukherjee   +17 more
doaj   +1 more source

Heterogeneous associations between interleukin-6 receptor variants and phenotypes across ancestries and implications for therapy

Scientific Reports
The Phenome-Wide Association Study (PheWAS) is increasingly used to broadly screen for potential treatment effects, e.g., IL6R variant as a proxy for IL6R antagonists. This approach offers an opportunity to address the limited power in clinical trials to
Xuan Wang, Molei Liu, Isabelle-Emmanuella Nogues, Tony Chen, Xin Xiong, Clara-Lea Bonzel, Harrison Zhang, Chuan Hong, Yin Xia, Kumar Dahal, Lauren Costa, Jing Cui, VA Million Veteran Program, J. Michael Gaziano, Seoyoung C. Kim, Yuk-Lam Ho, Kelly Cho, Tianxi Cai, Katherine P. Liao   +18 more
doaj   +1 more source

Codon bias among synonymous rare variants is associated with Alzheimer's disease imaging biomarker [PDF]

, 2018
Alzheimer's disease (AD) is a neurodegenerative disorder with few biomarkers even though it impacts a relatively large portion of the population and is predicted to affect significantly more individuals in the future.
Alzheimer’s Disease Neuroimaging Initiative (ADNI), Kim, Dokyoon, Lee, Seunggeun, Miller, Jason E., Nho, Kwangsik, Risacher, Shannon L., Saykin, Andrew J., Shivakumar, Manu K.   +7 more
core  

Multiancestry transferability of a polygenic risk score for diverticulitis

BMJ Open Gastroenterology
Objective Polygenic risk scores (PRS) for diverticular disease must be evaluated in diverse cohorts. We sought to explore shared genetic predisposition across the phenome and to assess risk stratification in individuals genetically similar to European ...
Richard Peek, Eric R Gamazon, Jamie Robinson, Jonathan D Mosley, Thomas E Ueland, Christopher Neylan, John P Shelley, Lillias Maguire, Alexander T Hawkins   +8 more
doaj   +1 more source

Exploring Effects of Age at the Onset of Myopia on Multiple Diseases Using Electronic Health Records

Ophthalmology Science
Purpose: To examine whether genetic predisposition to age at the onset of myopia is associated with the development of future diseases. Design: Mendelian randomization phenome-wide association study (MR-PheWAS) from the UK Biobank.
Xiayin Zhang, PhD, Shan Wang, MD, Yu Huang, PhD, Yanjie Xie, PhD, Ishith Seth, MD, Gabriella Bulloch, MD, Chunran Lai, MD, Yijun Hu, PhD, Xianwen Shang, PhD, Mingguang He, PhD, Zhuoting Zhu, PhD, Honghua Yu, PhD   +11 more
doaj   +1 more source

Phenotypic findings associated with variation in elastin

HGG Advances
Summary: Variation in the elastin gene (ELN) may contribute to connective tissue disease beyond the known disease associations of supravalvar aortic stenosis and cutis laxa.
Anne Justice, Melissa A. Kelly, Gary Bellus, Joshua D. Green, Raza Zaidi, Taylor Kerrins, Navya Josyula, Teresa R. Luperchio, Beth A. Kozel, Marc S. Williams   +9 more
doaj   +1 more source