Pulse Brain · Growing Health Evidence Index
Tier 3 — Observational / field trialPeer-reviewed

Identification of common genetic risk variants for autism spectrum disorder

Jakob Grove, BUPGEN, Stephan Ripke, Thomas D. Als, Manuel Mattheisen, Raymond K. Walters, Hyejung Won, Jonatan Pallesen, Esben Agerbo, Ole A. Andreassen, Richard Anney, Swapnil Awashti, Rich Belliveau, Francesco Bettella, Joseph D. Buxbaum, Jonas Bybjerg‐Grauholm, Marie Bækvad‐Hansen, Felecia Cerrato, Kimberly Chambert, Jane Christensen, Claire Churchhouse, Karin Dellenvall, Ditte Demontis, Silvia De Rubeis, Bernie Devlin, Srdjan Djurovic, Ashley Dumont, Jacqueline I. Goldstein, Christine Søholm Hansen, Mads E. Hauberg, Mads V. Hollegaard, Sigrun Hope, Daniel P. Howrigan, Hailiang Huang, Christina M. Hultman, Lambertus Klei, Julian Maller, Joanna Martin, Alicia R. Martin, Jennifer L. Moran, Mette Nyegaard, Terje Nærland, Duncan S. Palmer, Aarno Palotie, Carsten Bøcker Pedersen, Marianne Giørtz Pedersen, Timothy dPoterba, Jesper Buchhave Poulsen, Beaté St Pourcain, Per Qvist, Karola Rehnström, Abraham Reichenberg, Jennifer Reichert, Elise Robinson, Kathryn Roeder, Panos Roussos, Evald Sæmundsen, Sven Sandin, F. Kyle Satterstrom, George Davey Smith, Hreinn Stefánsson, Stacy Steinberg, Christine Stevens, Patrick F. Sullivan, Patrick Turley, G. Bragi Walters, Xinyi Xu, Kāri Stefánsson, Daniel H. Geschwind, Merete Nordentoft, David M. Hougaard, Thomas Werge, Ole Mors, Preben Bo Mortensen, Benjamin M. Neale, Mark J. Daly, Anders D. Børglum

Nature Genetics · 2019

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Summary

This large international GWAS, published in Nature Genetics in 2019, identified common genetic variants contributing to autism spectrum disorder risk through analysis of multiple population cohorts. The study represents a significant advance in understanding the polygenic architecture of ASD, though as is typical for such studies, the identified variants account for only a portion of the overall genetic risk. The findings have limited direct application to farming systems or food-based interventions but may inform future research on gene-environment interactions in neurodevelopmental conditions.

UK applicability

Whilst the study includes contributions from UK researchers and population data, the genetic findings are population-level and do not directly address UK agricultural practices, soil health, or food system interventions. However, the work may eventually support research exploring interactions between genetic predisposition and dietary or nutritional factors in ASD populations within UK clinical and public health contexts.

Key measures

Single-nucleotide polymorphisms (SNPs), odds ratios, heritability estimates, genetic risk scores

Outcomes reported

The study identified common genetic variants associated with autism spectrum disorder (ASD) through genome-wide association analysis. The research reports genetic risk loci and their contribution to ASD heritability across large international cohorts.

Theme
Nutrition & health
Subject
Other / interdisciplinary
Study type
Research
Study design
Genome-wide association study (GWAS)
Source type
Peer-reviewed study
Status
Published
Geography
International
System type
Laboratory / in vitro
DOI
10.1038/s41588-019-0344-8
Catalogue ID
BFmor3gaas-wvkqyf

Topic tags

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