David M. Evans
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View article: The genetic architecture of trabecular bone score and association with fracture: a genome-wide association and meta-analysis
The genetic architecture of trabecular bone score and association with fracture: a genome-wide association and meta-analysis Open
Background Trabecular bone score (TBS) is a texture-based measurement derived from DXA scans, which describes the distribution of mineral across the vertebral bodies. Identifying its genetic determinants is crucial for enhancing understand…
View article: Within-family heritability estimates for behavioural and disease phenotypes from 500,000 sibling pairs of diverse ancestries
Within-family heritability estimates for behavioural and disease phenotypes from 500,000 sibling pairs of diverse ancestries Open
Quantification of the direct effect of genetic variation on human behavioural traits is important for understanding between-individual variation in socio-economic and health outcomes but estimates of their heritability can be biased by bet…
View article: Proteome-Wide Mendelian Randomisation Study of Adverse Perinatal Outcomes
Proteome-Wide Mendelian Randomisation Study of Adverse Perinatal Outcomes Open
Despite significant advances in pre- and postnatal care over the last century, adverse pregnancy related events still occur frequently. We used Mendelian randomisation (MR) to investigate potential causal effects of the mother’s and fetal …
View article: Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects
Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects Open
Gestational diabetes mellitus (GDM) affects ∼14% of pregnancies and is linked to adverse pregnancy outcomes and increased maternal type 2 diabetes mellitus (T2DM) risk. The GenDiP Consortium conducted trans-generational, multi-ancestry gen…
View article: Utilising novel Mendelian randomization approaches to investigate a potential causal effect of fetal growth on maternal cardiometabolic risk in the UK Biobank
Utilising novel Mendelian randomization approaches to investigate a potential causal effect of fetal growth on maternal cardiometabolic risk in the UK Biobank Open
Mothers of low birth weight infants are at increased risk of cardiovascular disease in later life. It is hypothesised this reflects a combination of 1) fetal factors influencing maternal vasculature via placental implantation, which also i…
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: Utilising offspring genotype by proxy Mendelian randomization to investigate the causal effect of offspring traits on parental health
Utilising offspring genotype by proxy Mendelian randomization to investigate the causal effect of offspring traits on parental health Open
Offspring can exert profound effects on the health of their parents. This is perhaps most apparent during the perinatal period, where the fetus influences processes that alter pre- and post-natal maternal physiology. In theory, it is possi…
View article: A Literature Review of Theoretical Perspectives Toward Parent-Mediated Behavioural Intervention for Autistic Children
A Literature Review of Theoretical Perspectives Toward Parent-Mediated Behavioural Intervention for Autistic Children Open
Autistic children exhibit disabilities in social interaction and communication along with the presence of repetitive, restricted and stereotyped behaviours. Autistic person demonstrates high rates of developing challenging behaviours that …
View article: Fludrocortisone to treat patients with aneurysmal subarachnoid haemorrhage: Protocol for an international, phase 3, randomised, placebo-controlled, multicentre trial
Fludrocortisone to treat patients with aneurysmal subarachnoid haemorrhage: Protocol for an international, phase 3, randomised, placebo-controlled, multicentre trial Open
NCT06409364.
View article: Exploring the effect of maternal glycemic traits on offspring cardiometabolic risk factors in adulthood: an intergenerational Mendelian randomization study
Exploring the effect of maternal glycemic traits on offspring cardiometabolic risk factors in adulthood: an intergenerational Mendelian randomization study Open
Introduction Maternal higher circulating glucose levels in pregnancy have been proposed to influence the offspring’s cardiometabolic health in adulthood through developmental mechanisms. Previous observational studies may have been subject…
View article: Parental body mass index and offspring cardiovascular risk factors in adulthood: an intergenerational Mendelian randomization study
Parental body mass index and offspring cardiovascular risk factors in adulthood: an intergenerational Mendelian randomization study Open
Importance Observationally, greater pre-pregnancy maternal and paternal body mass index (BMI) are associated with a poorer offspring adult cardiovascular risk factor profile, but it is unclear whether this is due to family-level confoundin…
View article: The genetics of low and high birthweight and their relationship with cardiometabolic disease
The genetics of low and high birthweight and their relationship with cardiometabolic disease Open
Aims/hypothesis Low birthweight infants are at increased risk not only of mortality, but also of type 2 diabetes mellitus and CVD in later life. At the opposite end of the spectrum, high birthweight infants have increased risk of birth com…
View article: Examining the association between fetal<i>HLA-C</i>, maternal<i>KIR</i>haplotypes and birth weight
Examining the association between fetal<i>HLA-C</i>, maternal<i>KIR</i>haplotypes and birth weight Open
Human birth weight is under stabilizing selection, seeking balance between extremes of high and low, thereby reducing fetal and maternal perinatal mortality risk. Certain combinations of maternal killer immunoglobulin-like receptor ( KIR )…
View article: Jointly modelling multiple ancestral populations using GWAS summary data improves causal inference
Jointly modelling multiple ancestral populations using GWAS summary data improves causal inference Open
Population diversity contributing towards genome wide association studies is increasing, which has invited the expansion of causal inference through Mendelian randomization (MR) to multiple populations. Here we show that multi-ancestry MR …
View article: Haplotype-based analysis distinguishes maternal-fetal genetic contribution to pregnancy-related outcomes
Haplotype-based analysis distinguishes maternal-fetal genetic contribution to pregnancy-related outcomes Open
Genotype-based approaches for the estimation of SNP-based narrow-sense heritability ( ) have limited utility in pregnancy-related outcomes due to confounding by the shared alleles between mother and child. Here, we propose a haplot…
View article: Germline sequence variation within the ribosomal DNA is associated with human complex traits
Germline sequence variation within the ribosomal DNA is associated with human complex traits Open
The ribosome is one of the core macromolecules in the cell. The ribosomal RNAs (rRNA), which are essential components of the ribosome, are coded by the multi-copy ribosomal DNA (rDNA). Despite its highly conserved function, the rDNA displa…
View article: The influence of fetal sex on maternal blood pressure in pregnancy
The influence of fetal sex on maternal blood pressure in pregnancy Open
Background Pregnancy with a male fetus carries a higher risk of term pre-eclampsia than pregnancy with a female fetus. Based on evidence that maternal blood pressure (BP) may be raised in pregnancies with Beckwith-Wiedemann syndrome (fetal…
View article: Multiscale analysis and functional validation of the cellular and genetic determinants of skeletal disease
Multiscale analysis and functional validation of the cellular and genetic determinants of skeletal disease Open
Musculoskeletal diseases are a major global health burden. Development of new bone-active therapies is hindered by limited understanding of the complex interactions between the cells and genes that regulate the skeleton. To unravel this co…
View article: No Evidence of Interaction Between FADS2 Genotype and Breastfeeding on Cognitive or Other Traits in the UK Biobank
No Evidence of Interaction Between FADS2 Genotype and Breastfeeding on Cognitive or Other Traits in the UK Biobank Open
Breastfeeding is hypothesised to benefit child health and cognitive functioning by providing long-chain polyunsaturated fatty acids, which are essential for brain development. In 2007, Caspi et al . found evidence in two cohorts for an int…
View article: The genetic architecture of hip shape and its role in the development of hip osteoarthritis and fracture
The genetic architecture of hip shape and its role in the development of hip osteoarthritis and fracture Open
Objectives Hip shape is thought to be an important causal risk factor for hip osteoarthritis and fracture. We aimed to identify genetic determinants of hip shape and use these to assess causal relationships with hip osteoarthritis. Methods…
View article: Micronutrients and Major Depression: A Mendelian Randomisation Study
Micronutrients and Major Depression: A Mendelian Randomisation Study Open
Background: Various vitamins and minerals have been implicated in the aetiology of depression. Objective: To estimate the effects of micronutrient exposures on major depressive disorder (MDD) and recurrent depression (rMDD) using Mendelian…
View article: Does smoking during pregnancy influence offspring handedness? Extending gene-by-environment Mendelian randomisation to include polygenic risk scores
Does smoking during pregnancy influence offspring handedness? Extending gene-by-environment Mendelian randomisation to include polygenic risk scores Open
Hand preference first appears in utero , yet twin studies and GWAS show that the majority of variance in hand preference is explained by environmental factors. Using UK Biobank data and multivariable logistic regression to test association…