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<p>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., <i>NPLOC4-TSPAN10-PDE6G-FAAP100</i>, COL6A1) for strabismus and 5 additional loci (e.g., <i>CHRNA4</i>, <i>MAD1L1</i>) for strabismus subtypes and we successfully replicated the previously reported strabismus variant near <i>NPLOC4-TSPAN10-PDE6G-FAAP100</i>. Using mendelian randomisation, we found genetic evidence supporting maternal smoking as a causal risk factor for strabismus in offspring.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年8月23日

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  • 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,
  • Raul Aguirre-Gamboa,
  • Patrick Deelen,
  • Lude Franke,
  • Jan A. Kuivenhoven,
  • Esteban A. Lopera Maya,
  • Ilja M. Nolte,
  • Serena Sanna,
  • Morris A. Swertz,
  • Peter M. Visscher,
  • Judith M. Vonk,
  • Cisca Wijmenga,
  • Naomi Wray,
  • Stuart MacGregor

摘要

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.