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Updated: May 2, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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Testing for non-linear causal effects using a binary genotype in a Mendelian randomization study: application to

Richard J Silverwood1, Michael V Holmes2, Caroline E Dale3

  • 1Faculty of Epidemiology and Population Health, Centre for Statistical Methodology and Bloomsbury Centre for Genetic Epidemiology and Statistics, London School of Hygiene and Tropical Medicine, London, UK, Department of Epidemiology and Public Health, University College London, London, UK, MRC Integrative Epidemiology Unit and School of Social and Community Medicine, University of Bristol, Bristol, UK, Genetics, R & D, GlaxoSmithKline, Stevenage, UK, Division of Health Sciences, University of Warwick, Warwick, Coventry, UK, Center for Applied Genomics, Abramson Research Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA and Institute of Cardiovascular Science, University College London, London, UK Faculty of Epidemiology and Population Health, Centre for Statistical Methodology and Bloomsbury Centre for Genetic Epidemiology and Statistics, London School of Hygiene and Tropical Medicine, London, UK, Department of Epidemiology and Public Health, University College London, London, UK, MRC Integrative Epidemiology Unit and School of Social and Community Medicine, University of Bristol, Bristol, UK, Genetics, R & D, GlaxoSmithKline, Stevenage, UK, Division of Health Sciences, University of Warwick, Warwick, Coventry, UK, Center for Applied Genomics, Abramson Research Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA and Institute of Cardiovascular Science, University College London, London, UK Faculty of Epidemiology and Population Health, Centre for Statistical Methodology and Bloomsbury Centre for Genetic Epidemiology and Statistics, London School of Hygiene and Tropical Medicine, London, UK, Department of Epidemiology and Public Health, University College London, London, UK, MRC Integrative Epidemiology Unit and School of Social and Community Medicine, University of Bristol, Bristol, UK, Genetics, R & D, GlaxoSmithKline, Stevenage, UK, Division of Health Sciences, University of Warwick, Warwick, Coventry, UK, Center for Applied Genomics

International Journal of Epidemiology
|September 7, 2014
PubMed
Summary

This study introduces a new Mendelian randomization method to analyze non-linear relationships between alcohol consumption and cardiovascular events. The findings reveal a non-linear causal effect of alcohol intake on cardiovascular traits, challenging previous linear assumptions.

Keywords:
Mendelian randomizationalcohol consumptioncardiovascular diseasecausal inferenceinstrumental variableslocal average treatment effects

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