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Gene-environment interactions have important implications to elucidate the genetic basis of complex diseases beyond the joint function of multiple genetic factors and their interactions (or epistasis). In the past, G$\times$E interactions…

Applications · Statistics 2020-03-09 Fei Zhou , Jie Ren , Xi Lu , Shuangge Ma , Cen Wu

In Mendelian randomization (MR) studies, genetic variants are used as instrumental variables (IVs) to investigate causal relationships between exposures and outcomes based on observational data. However, numerous genetic studies have shown…

Methodology · Statistics 2026-04-10 Julien St-Pierre , Archer Y. Yang , Mireille E. Schnitzer , Marc-André Legault

Many complex diseases are known to be affected by the interactions between genetic variants and environmental exposures beyond the main genetic and environmental effects. Study of gene-environment (G$\times$E) interactions is important for…

Methodology · Statistics 2019-10-01 Jie Ren , Fei Zhou , Xiaoxi Li , Qi Chen , Hongmei Zhang , Shuangge Ma , Yu Jiang , Cen Wu

The health effects of environmental exposures have been studied for decades, typically using standard regression models to assess exposure-outcome associations found in observational non-experimental data. We propose and illustrate a…

Applications · Statistics 2017-09-20 Marie-Abele C. Bind , Donald B. Rubin

Cognizance of gene-environment interactions may help prevent or detain the onset of complex diseases like cardiovascular disease, cancer, type2 diabetes, autism or asthma by adjustments to lifestyle. In this regard, we extend the Bayesian…

Applications · Statistics 2017-07-25 Durba Bhattacharya , Sourabh Bhattacharya

We consider the challenging problem of estimating causal effects from purely observational data in the bi-directional Mendelian randomization (MR), where some invalid instruments, as well as unmeasured confounding, usually exist. To address…

Methodology · Statistics 2024-07-15 Feng Xie , Zhen Yao , Lin Xie , Yan Zeng , Zhi Geng

Background: Mendelian randomization (MR) is a useful approach to causal inference from observational studies when randomised controlled trials are not feasible. However, study heterogeneity of two association studies required in MR is often…

Methodology · Statistics 2021-12-16 Linyi Zou , Hui Guo , Carlo Berzuini

Mendelian randomization uses genetic variants to make causal inferences about a modifiable exposure. Subject to a genetic variant satisfying the instrumental variable assumptions, an association between the variant and outcome implies a…

Methodology · Statistics 2018-04-17 Stephen Burgess , Jeremy A Labrecque

Multivariate Mendelian randomization (MVMR) is a statistical technique that uses sets of genetic instruments to estimate the direct causal effects of multiple exposures on an outcome of interest. At genomic loci with pleiotropic gene…

Methodology · Statistics 2024-09-23 Mariyam Khan , Adriaan-Alexander Ludl , Sean Bankier , Johan Bjorkegren , Tom Michoel

Mendelian randomization (MR) is an epidemiological method that can be used to strengthen causal inference regarding the relationship between a modifiable environmental exposure and a medically relevant trait and to estimate the magnitude of…

Quantitative Methods · Quantitative Biology 2023-08-30 David M Evans , George Davey Smith , Gunn-Helen Moen

Estimating the causal effect of an exposure on an outcome is an important task in many economical and biological studies. Mendelian randomization, in particular, uses genetic variants as instruments to estimate causal effects in…

Methodology · Statistics 2017-06-06 Sai Li

Mendelian randomization (MR) is a popular method in genetic epidemiology to estimate the effect of an exposure on an outcome by using genetic instruments. These instruments are often selected from a combination of prior knowledge from…

Methodology · Statistics 2019-11-12 Nan Bi , Hyunseung Kang , Jonathan Taylor

Environmental hazards place certain individuals at disproportionately higher risks. As these hazards increasingly endanger human health, precise identification of the most vulnerable population subgroups is critical for public health.…

Machine Learning · Computer Science 2024-09-23 Jong Woo Nam , Eun Young Choi , Jennifer A. Ailshire , Yao-Yi Chiang

Gene-environment (G$\times$E) interactions have important implications to elucidate the etiology of complex diseases beyond the main genetic and environmental effects. Outliers and data contamination in disease phenotypes of G$\times$E…

Methodology · Statistics 2020-06-11 Jie Ren , Fei Zhou , Xiaoxi Li , Shuangge Ma , Yu Jiang , Cen Wu

For the outcomes and phenotypes of complex diseases, multiple types of molecular (genetic, genomic, epigenetic, etc.) changes, environmental risk factors, and their interactions have been found to have important contributions. In each of…

Methodology · Statistics 2019-12-19 Yaqing Xu , Mengyun Wu , Shuangge Ma

Mendelian randomization (MR) has become a popular approach to study causal effects by using genetic variants as instrumental variables. We propose a new MR method, GENIUS-MAWII, which simultaneously addresses the two salient phenomena that…

Methodology · Statistics 2024-02-27 Ting Ye , Zhonghua Liu , Baoluo Sun , Eric Tchetgen Tchetgen

Valid estimation of a causal effect using instrumental variables requires that all of the instruments are independent of the outcome conditional on the risk factor of interest and any confounders. In Mendelian randomization studies with…

Methodology · Statistics 2020-11-23 Andrew J. Grant , Stephen Burgess

Genomic regions (or loci) displaying outstanding correlation with some environmental variables are likely to be under selection and this is the rationale of recent methods of identifying selected loci and retrieving functional information…

Populations and Evolution · Quantitative Biology 2013-08-13 Gilles Guillot

The two-phase sampling design is a cost-efficient way of collecting expensive covariate information on a judiciously selected subsample. It is natural to apply such a strategy for collecting genetic data in a subsample enriched for exposure…

Applications · Statistics 2013-05-27 Jaeil Ahn , Bhramar Mukherjee , Stephen B. Gruber , Malay Ghosh

Polygenic risk scores (PRSs) can significantly enhance breast cancer risk prediction when combined with clinical risk factor data. While many studies have explored the value-add of PRSs, little is known about the potential impact of…

Genomics · Quantitative Biology 2024-07-31 Monica Isgut , Andrew Hornback , Yunan Luo , Asma Khimani , Neha Jain , May D. Wang