Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking

Weixiong He (), Peter J. Most, Jue-Sheng Ong, Liang-Dar Hwang, Yeda Wu, Morten S. Magnø, Jelle Vehof, Kristi Krebs, Laura Mauring, Katrin Õunap, Erik Abner, Nicholas G. Martin, Denis Plotnikov, Chen Jiang, Ronald B. Melles, Puya Gharahkhani, Harold Snieder, Teele Palumaa, Kuldar Kaljurand, Jeremy A. Guggenheim, David A. Mackey, Elizabeth C. Engle, Hélène Choquet and Stuart MacGregor
Additional contact information
Weixiong He: QIMR Berghofer Medical Research Institute
Peter J. Most: University of Groningen
Jue-Sheng Ong: QIMR Berghofer Medical Research Institute
Liang-Dar Hwang: University of Queensland
Yeda Wu: QIMR Berghofer Medical Research Institute
Morten S. Magnø: University of Groningen
Jelle Vehof: King’s College London
Kristi Krebs: University of Tartu
Laura Mauring: Tartu University Hospital
Katrin Õunap: Tartu University Hospital
Erik Abner: University of Tartu
Nicholas G. Martin: QIMR Berghofer Medical Research Institute
Denis Plotnikov: Kazan State Medical University
Chen Jiang: Kaiser Permanente Northern California
Ronald B. Melles: Kaiser Permanente Northern California
Puya Gharahkhani: QIMR Berghofer Medical Research Institute
Harold Snieder: University of Groningen
Teele Palumaa: University of Tartu
Kuldar Kaljurand: Tartu University Hospital
Jeremy A. Guggenheim: Cardiff University
David A. Mackey: University of Western Australia
Elizabeth C. Engle: Boston Children’s Hospital and Harvard Medical School
Hélène Choquet: Kaiser Permanente Northern California
Stuart MacGregor: QIMR Berghofer Medical Research Institute

Nature Communications, 2025, vol. 16, issue 1, 1-14

Abstract: Abstract Strabismus is a common pediatric eye misalignment and has complex genetic and environmental causes. Previous genome-wide association studies (GWAS) encountered difficulties in identifying strabismus risk variants due to heterogeneity and small samples. We performed large meta-analyses of 11 European-ancestry GWAS (7 sources), analysing broad strabismus (20,464 cases, 954,921 controls) and subtypes (esotropia/exotropia). We discovered 4 loci (e.g., NPLOC4-TSPAN10-PDE6G-FAAP100, COL6A1) for strabismus and 5 additional loci (e.g., CHRNA4, MAD1L1) for strabismus subtypes and we successfully replicated the previously reported strabismus variant near NPLOC4-TSPAN10-PDE6G-FAAP100. Using mendelian randomisation, we found genetic evidence supporting maternal smoking as a causal risk factor for strabismus in offspring.

Date: 2025
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DOI: 10.1038/s41467-025-62456-9

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