Results 91 to 100 of about 6,310 (247)

Multi‐Trait GWAS Analyses of Blood Pressure Traits Provide Limited Gains in Locus Discovery or Polygenic Risk Score Performance Compared to Single‐Trait GWAS

Genetic Epidemiology, Volume 50, Issue 8, December 2026.
ABSTRACT High blood pressure (BP) represents a major cause of life‐threatening cardiovascular conditions. GWAS have identified >2000 BP‐associated signals. BP‐GWAS usually analyze each BP trait individually. However, multi‐trait GWAS may yield novel loci and improve polygenic risk scores (PRS) prediction. We explored whether multi‐trait BP‐GWAS can: (i)
Yujia Ma, Anna D. Argoty‐Pantoja, Tian Xie, Michael R. Barnes, Patricia B. Munroe, Claudia P. Cabrera, Harold Snieder, Helen R. Warren, UMCG Genetics Lifelines Initiative (UGLI) group author: LifeLines Cohort Study, Raul Aguirre‐Gamboa, Patrick Deelen, Lude Franke, Jan A. Kuivenhoven, Esteban A. Lopera Maya, Ilja M. Nolte, Serena Sanna, Harold Snieder, Morris A. Swertz, Peter M. Visscher, Judith M. Vonk, Cisca Wijmenga, Naomi Wray   +21 more
wiley   +1 more source

MR-pheWAS with stratification and interaction: Searching for the causal effects of smoking heaviness identified an effect on facial aging.

PLoS Genetics, 2019
Mendelian randomization (MR) is an established approach to evaluate the effect of an exposure on an outcome. The gene-by-environment (GxE) study design can be used to determine whether the genetic instrument affects the outcome through pathways other ...
Louise A C Millard, Marcus R Munafò, Kate Tilling, Robyn E Wootton, George Davey Smith   +4 more
doaj   +1 more source

Cohort-specific "B1_ALL" PRS PheWAS Results for AFR Ancestry, Adjusted for BMI.

, 2023
Cohort-specific "B1_ALL" PRS PheWAS Results for AFR Ancestry, Adjusted for BMI.
Ritoban Kundu (10937289), Stephen Burgess (3368630), Bhramar Mukherjee (90346), Maxwell Salvatore (6836702), Xu Shi (216330), Seunggeun Lee (741906), Lars G. Fritsche (9046596), Kisung Nam (17675388), Jiacong Du (12035845)   +8 more
core   +1 more source

Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases

Advanced Science, Volume 13, Issue 56, 9 October 2026.
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu   +23 more
wiley   +1 more source

Phenome-wide association studies as a research tool for identifying new pathogenetic links

Кардиоваскулярная терапия и профилактика
The accumulation of biospecimens associated with large-scale clinical data (data from electronic medical records, epidemiological and other large-scale studies) has made it possible to conduct studies aimed at studying associations between genetic ...
N. A. Mashkina, A. I. Ershova, O. V. Kopylova, O. M. Drapkina   +3 more
doaj   +1 more source

Multi-PheWAS intersection approach to identify sex differences across comorbidities in 59 140 pediatric patients with autism spectrum disorder

J. Am. Medical Informatics Assoc., 2021
Objective To identify differences related to sex and define autism spectrum disorder (ASD) comorbidities female-enriched through a comprehensive multi-PheWAS intersection approach on big, real-world data.
A. Gutiérrez-Sacristán, C. Sáez, Carlos De Niz, Niloofar Jalali, T. Desain, Ranjay Kumar, Joany M. Zachariasse, K. Fox, N. Palmer, I. Kohane, P. Avillach   +10 more
semanticscholar   +1 more source

"B1_ALL" PRS PheWAS Meta-Analysis Results for AFR Ancestry, Adjusted for BMI.

, 2023
"B1_ALL" PRS PheWAS Meta-Analysis Results for AFR Ancestry, Adjusted for BMI.
Ritoban Kundu (10937289), Stephen Burgess (3368630), Bhramar Mukherjee (90346), Maxwell Salvatore (6836702), Xu Shi (216330), Seunggeun Lee (741906), Lars G. Fritsche (9046596), Kisung Nam (17675388), Jiacong Du (12035845)   +8 more
core   +1 more source

Phenome-wide association study in 25,639 pregnant Chinese women reveals loci associated with maternal comorbidities and child health

Cell Genomics
Summary: Phenome-wide association studies (PheWAS) have been less focused on maternal diseases and maternal-newborn comorbidities, especially in the Chinese population.
Jintao Guo, Qiwei Guo, Taoling Zhong, Chaoqun Xu, Zhongmin Xia, Hongkun Fang, Qinwei Chen, Ying Zhou, Jieqiong Xie, Dandan Jin, You Yang, Xin Wu, Huanhuan Zhu, Ailing Hour, Xin Jin, Yulin Zhou, Qiyuan Li   +16 more
doaj   +1 more source

A MR-PheWAS and bidirectional Mendelian randomization study: Exploring for causal relationships of pancreatic cancer

Medicine
It is unknown what causes pancreatic cancer. We conducted a phenome-wide Mendelian randomization analysis (MR-pheWAS), a bidirectional Mendelian study, and a systematic review of research in order to thoroughly investigate any causal association between ...
Aiyu Guan, Ze-Ming Li, Xingren Guo
semanticscholar   +1 more source

B1_ALL" PRS PheWAS Meta-Analysis Results for EUR Ancestry, Unadjusted for BMI.

, 2023
B1_ALL" PRS PheWAS Meta-Analysis Results for EUR Ancestry, Unadjusted for BMI.
Ritoban Kundu (10937289), Stephen Burgess (3368630), Bhramar Mukherjee (90346), Maxwell Salvatore (6836702), Xu Shi (216330), Seunggeun Lee (741906), Lars G. Fritsche (9046596), Kisung Nam (17675388), Jiacong Du (12035845)   +8 more
core   +1 more source