George Davey Smith
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View article: Evaluating transportability of in vitro cellular models to in vivo human phenotypes using gene perturbation data
Evaluating transportability of in vitro cellular models to in vivo human phenotypes using gene perturbation data Open
Gene perturbation screens (e.g. CRISPR-Cas9) assess the impact of gene disruption on in-vitro cellular phenotypes (e.g., proliferation, anti-viral response). In-vitro experiments can be useful models for in-vivo (organismal) phenotypes (e.…
View article: A protocol for using human genetic data to identify circulating protein level changes that are the causal consequence of cancer processes
A protocol for using human genetic data to identify circulating protein level changes that are the causal consequence of cancer processes Open
Introduction Cancer is a leading cause of death worldwide. Early detection of cancer improves treatment options and patient survival but detecting cancer at the earliest stage presents challenges. Identification of circulating protein biom…
View article: Integrating Single‐Cell Transcriptome‐Wide Mendelian Randomization and Differentially Expressed Gene Analyses to Prioritize Dynamic Immune‐Related Drug Targets for Cancers
Integrating Single‐Cell Transcriptome‐Wide Mendelian Randomization and Differentially Expressed Gene Analyses to Prioritize Dynamic Immune‐Related Drug Targets for Cancers Open
Single‐cell expression quantitative trait loci data offer promising opportunities to inform immune‐related drug development in cancer. However, pleiotropy can complicate causal inference. We introduce MR‐DEG, a framework that integrates Me…
View article: Strengthening the reporting of observational studies in epidemiology using Mendelian randomization (STROBE-MR): a Korean translation of explanation and elaboration
Strengthening the reporting of observational studies in epidemiology using Mendelian randomization (STROBE-MR): a Korean translation of explanation and elaboration Open
멘델 무작위화(Mendelian randomization, MR) 연구는 조절 가능한 노출(modifiable exposure)이 건강결과에 미치는 인과효과(causal effect)를 더 잘 이해하게 해 주지만, 그 근거는 종종 보고가 불충분함으로 인하여연구 결과의 해석과 적용에 한계가 있을 수 있다. 보고지침은 흔히 무슨 연구를 하고 무엇을 발견했는지 독자가 쉽게 이해하도록 돕는다. STROBE-MR(관찰연구의 멘델 무작…
View article: Enhancing cohort studies in China and international collaboration
Enhancing cohort studies in China and international collaboration Open
A new BMJ collection examines how well designed large scale research can benefit global health
View article: Natural selection exerted by historical coronavirus epidemic(s): comparative genetic analysis in China Kadoorie Biobank and UK Biobank
Natural selection exerted by historical coronavirus epidemic(s): comparative genetic analysis in China Kadoorie Biobank and UK Biobank Open
Background Pathogens have been one of the primary sources of natural selection affecting modern humans. The footprints of historical selection events – “selective sweeps”– can be detected in the genomes of present-day individuals. Previous…
View article: High concentrations of polyunsaturated n–3 fatty acids in serum are inversely associated with risk of future incident venous thromboembolism – the HUNT cohort study
High concentrations of polyunsaturated n–3 fatty acids in serum are inversely associated with risk of future incident venous thromboembolism – the HUNT cohort study Open
Our finding of an inverse association between serum n-3 PUFA concentrations and VTE suggest that a diet enriched with n-3 PUFAs might protect against future VTE.
View article: The effect of type 2 diabetes genetic predisposition on non-cardiovascular comorbidities
The effect of type 2 diabetes genetic predisposition on non-cardiovascular comorbidities Open
Type 2 diabetes is associated with a range of non-cardiovascular non-oncologic comorbidities. To move beyond associations and evaluate causal effects between type 2 diabetes genetic predisposition and 21 comorbidities, we apply Mendelian r…
View article: Reassessing the link between adiposity and head and neck cancer: a Mendelian randomization study
Reassessing the link between adiposity and head and neck cancer: a Mendelian randomization study Open
Background: Adiposity has been associated with an increased risk of head and neck cancer (HNC). Although body mass index (BMI) has been inversely associated with HNC risk among smokers, this is likely due to confounding. Previous Mendelian…
View article: Reassessing the link between adiposity and head and neck cancer: a Mendelian randomization study
Reassessing the link between adiposity and head and neck cancer: a Mendelian randomization study Open
Background Adiposity has been associated with an increased risk of head and neck cancer (HNC). Although body mass index (BMI) has been inversely associated with HNC risk among smokers, this is likely due to confounding. Previous Mendelian …
View article: Selection bias is unlikely to fully explain the protective effect of childhood adiposity on breast cancer risk
Selection bias is unlikely to fully explain the protective effect of childhood adiposity on breast cancer risk Open
Higher childhood adiposity has been reported to lower breast cancer risk across multiple lines of evidence, including lifecourse Mendelian randomization (MR). These MR results show that the apparent univariable effect of higher adulthood a…
View article: Non-linear Mendelian randomization of vitamin D and C-Reactive Protein: an interrogation of methods
Non-linear Mendelian randomization of vitamin D and C-Reactive Protein: an interrogation of methods Open
Mendelian randomization (MR) is an established epidemiological technique which uses genetic variants to strengthen causal inference regarding modifiable exposures. Non-linear MR is an extension to MR which aims to estimate whether the effe…
View article: Structured tools to assessing quality and bias in Mendelian randomisation studies: an updated systematic review
Structured tools to assessing quality and bias in Mendelian randomisation studies: an updated systematic review Open
Background The growing use of Mendelian randomisation (MR) has heightened the need for rigorous quality and bias assessment tools. A previous systematic review included studies published up to July 2021 identified 14 structured instruments…
View article: Unpicking environmental consequences of genetically proxied mental health exposures in the UK Biobank
Unpicking environmental consequences of genetically proxied mental health exposures in the UK Biobank Open
Background Associations between mental health and residential characteristics of a person’s local area are well established in epidemiological literature. However, the clustering of common causes by geographical context (hereafter referred…
View article: Revisiting the Links Between Asthma and the Psychosis Spectrum: shared molecular mechanisms
Revisiting the Links Between Asthma and the Psychosis Spectrum: shared molecular mechanisms Open
Epidemiological studies suggest associations of asthma with the psychosis spectrum (psychotic experiences, bipolar disorder, schizophrenia), but the mechanisms underlying these associations remain unclear. We examined the relationship betw…
View article: Self-Injurious Behaviour during Early Childhood in a General Population Sample – Exploratory Analysis in the Norwegian Mother, Father and Child Cohort Study (MoBa)
Self-Injurious Behaviour during Early Childhood in a General Population Sample – Exploratory Analysis in the Norwegian Mother, Father and Child Cohort Study (MoBa) Open
Objective Self-harm is one of the strongest risk factors for suicide and a major public health concern. Most existing research has focused on adolescents and adults. Knowledge about the prevalence and correlates of self-harm in children is…
View article: Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective
Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective Open
Several genome wide association studies (GWASs) of orofacial cleft have been conducted. However only a few such studies to date have combined all cleft cases, focused on subtypes other than non-syndromic cleft lip with/without cleft palate…
View article: Differential DNA methylation patterns in whole blood from ACPA-positive patients with DMARD-naïve rheumatoid arthritis at clinical disease onset
Differential DNA methylation patterns in whole blood from ACPA-positive patients with DMARD-naïve rheumatoid arthritis at clinical disease onset Open
Objective Epigenetic DNA imprints are increasingly being recognized as co-drivers of disease in complex conditions. In this exploratory and hypothesis-generating epigenome-wide association study (EWAS), we investigated differential methyla…
View article: Education and cardiovascular disease: a within-family Mendelian randomisation analysis
Education and cardiovascular disease: a within-family Mendelian randomisation analysis Open
Background Observational studies have consistently found educational inequalities in cardiovascular disease risk. Mendelian randomisation analyses have suggested a direct causal effect of education, however estimates may be biased by demog…
View article: Woolf et al’s “GWAS by subtraction” is not useful for cross-generational Mendelian randomization studies
Woolf et al’s “GWAS by subtraction” is not useful for cross-generational Mendelian randomization studies Open
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 o…
View article: African-specific genetic loci determine iron status and risk of severe malaria and bacteremia in African children
African-specific genetic loci determine iron status and risk of severe malaria and bacteremia in African children Open
Iron is essential for both humans and pathogens, yet its genetic regulation remains understudied in African populations. We conducted genome-wide association studies for six iron-related biomarkers in 3928 children from five sites across A…
View article: Does Piperacillin-Tazobactam Increase Mortality Risk Compared With Cefepime? Collider Bias and the Importance of Assumptions in Instrumental Variable Analyses
Does Piperacillin-Tazobactam Increase Mortality Risk Compared With Cefepime? Collider Bias and the Importance of Assumptions in Instrumental Variable Analyses Open
Background Instrumental variable (IV) analysis is a statistical method allowing causal inference under certain assumptions. A recent high-profile IV analysis suggested cefepime was superior to piperacillin-tazobactam in treating sepsis. Th…
View article: Evaluating the consequences of childhood adiposity on the human plasma proteome at three timepoints across the lifecourse
Evaluating the consequences of childhood adiposity on the human plasma proteome at three timepoints across the lifecourse Open
Applying a lifecourse approach using human genetic data, we sought to evaluate the effect of childhood adiposity on the circulating proteome using measurements taken at three key life stages. We found genetically predicted childhood adipos…