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Open AccessVitamin D, chronic pain, and depression: linear and non-linear Mendelian randomization analyses
Vitamin D deficiency has been linked to various chronic pain conditions. However, randomized trials of vitamin D supplementation have had mixed results. In contrast, systematic reviews of randomized trials ind...
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Towards more reliable non-linear mendelian randomization investigations
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Open AccessGenetic investigation into the broad health implications of caffeine: evidence from phenome-wide, proteome-wide and metabolome-wide Mendelian randomization
Caffeine is one of the most utilized drugs in the world, yet its clinical effects are not fully understood. Circulating caffeine levels are influenced by the interplay between consumption behaviour and metabol...
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Article
Open AccessThe role of thyroid function in borderline personality disorder and schizophrenia: a Mendelian Randomisation study
Genome-wide association studies have reported a genetic overlap between borderline personality disorder (BPD) and schizophrenia (SCZ). Epidemiologically, the direction and causality of the association between ...
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Open AccessA data-adaptive method for investigating effect heterogeneity with high-dimensional covariates in Mendelian randomization
Mendelian randomization is a popular method for causal inference with observational data that uses genetic variants as instrumental variables. Similarly to a randomized trial, a standard Mendelian randomizatio...
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Open AccessThe citrate transporter SLC13A5 as a therapeutic target for kidney disease: evidence from Mendelian randomization to inform drug development
Solute carrier family 13 member 5 (SLC13A5) is a Na+-coupled citrate co-transporter that mediates entry of extracellular citrate into the cytosol. SLC13A5 inhibition has been proposed as a target for reducing pro...
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Open AccessTIE1 and TEK signalling, intraocular pressure, and primary open-angle glaucoma: a Mendelian randomization study
In primary open-angle glaucoma (POAG), lowering intraocular pressure (IOP) is the only proven way of slowing vision loss. Schlemm’s canal (SC) is a hybrid vascular and lymphatic vessel that mediates aqueous hu...
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Open AccessGenome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target
Abdominal aortic aneurysm (AAA) is a common disease with substantial heritability. In this study, we performed a genome-wide association meta-analysis from 14 discovery cohorts and uncovered 141 independent as...
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Open AccessA genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology
Blood cells contain functionally important intracellular structures, such as granules, critical to immunity and thrombosis. Quantitative variation in these structures has not been subjected previously to large...
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Open AccessAppraising the causal relationship between plasma caffeine levels and neuropsychiatric disorders through Mendelian randomization
Caffeine exposure modifies the turnover of monoamine neurotransmitters, which play a role in several neuropsychiatric disorders. We conducted a Mendelian randomization study to investigate whether higher plasm...
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Open AccessGenetic insights into resting heart rate and its role in cardiovascular disease
Resting heart rate is associated with cardiovascular diseases and mortality in observational and Mendelian randomization studies. The aims of this study are to extend the number of resting heart rate associate...
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Open AccessGenome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program
The current understanding of the genetic determinants of thoracic aortic aneurysms and dissections (TAAD) has largely been informed through studies of rare, Mendelian forms of disease. Here, we conducted a gen...
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Open AccessAssociation of gout with brain reserve and vulnerability to neurodegenerative disease
Studies of neurodegenerative disease risk in gout are contradictory. Relationships with neuroimaging markers of brain structure, which may offer insights, are uncertain. Here we investigated associations betwe...
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Open AccessRheumatoid arthritis and risk of site-specific cancers: Mendelian randomization study in European and East Asian populations
The associations of rheumatoid arthritis (RA) with risk of site-specific cancers beyond lymphohematopoietic cancer have been scarcely explored. We conducted a Mendelian randomization investigation of the assoc...
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Open AccessSystematic Mendelian randomization using the human plasma proteome to discover potential therapeutic targets for stroke
Stroke is the second leading cause of death with substantial unmet therapeutic needs. To identify potential stroke therapeutic targets, we estimate the causal effects of 308 plasma proteins on stroke outcomes ...
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Open AccessEvaluating the efficacy and mechanism of metformin targets on reducing Alzheimer’s disease risk in the general population: a Mendelian randomisation study
Metformin use has been associated with reduced incidence of dementia in diabetic individuals in observational studies. However, the causality between the two in the general population is unclear. This study us...
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Open Accessl-carnitine, a friend or foe for cardiovascular disease? A Mendelian randomization study
l-carnitine is emerging as an item of interest for cardiovascular disease (CVD) prevention and treatment, but controversy exists. To examine the effectiveness and safety of l-carnitine, we assessed how geneticall...
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Open AccessAssociations of genetically predicted IL-6 signaling with cardiovascular disease risk across population subgroups
Interleukin 6 (IL-6) signaling is being investigated as a therapeutic target for atherosclerotic cardiovascular disease (CVD). While changes in circulating high-sensitivity C-reactive protein (hsCRP) are used ...
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Article
Open AccessGenome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis
Clonal hematopoiesis (CH), the clonal expansion of a blood stem cell and its progeny driven by somatic driver mutations, affects over a third of people, yet remains poorly understood. Here we analyze genetic d...
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Association of milk intake with hay fever, asthma, and lung function: a Mendelian randomization analysis
Previous observational studies have indicated a protective effect of drinking milk on asthma and allergy. In Mendelian Randomization, one or more genetic variants are used as unbiased markers of exposure to ex...
