| Title: | Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking |
| Journal: | Nature Communications |
| Published: | 23 Aug 2025 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/40849414/ |
| DOI: | https://doi.org/10.1038/s41467-025-62456-9 |
| URL: | https://www.nature.com/articles/s41467-025-62456-9.pdf |
Publication 19676
WARNING: the interactive features of this website use CSS3, which your browser does not support. To use the full features of this website, please update your browser.
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.</p>
11 Keywords
- Female
- Genetic Predisposition to Disease
- Genome-Wide Association Study
- Humans
- Male
- Mendelian Randomization Analysis
- Polymorphism, Single Nucleotide
- Pregnancy
- Risk Factors
- Smoking
- Strabismus
24 Authors
- Weixiong He
- Peter J. van der 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
- Stuart MacGregor
1 Application
| Application ID | Title |
|---|---|
| 25331 | Gene mapping and genetic correlation across complex traits |
Enabling scientific discoveries that improve human health