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<p>Age at onset of walking is an important early childhood milestone which is used clinically and in public health screening. In this genome-wide association study meta-analysis of age at onset of walking (<i>N</i> = 70,560 European-ancestry infants), we identified 11 independent genome-wide significant loci. SNP-based heritability was 24.13% (95% confidence intervals = 21.86–26.40) with ~11,900 variants accounting for about 90% of it, suggesting high polygenicity. One of these loci, in gene <i>RBL2</i>, co-localized with an expression quantitative trait locus (eQTL) in the brain. Age at onset of walking (in months) was negatively genetically correlated with ADHD and body-mass index, and positively genetically correlated with brain gyrification in both infant and adult brains. The polygenic score showed out-of-sample prediction of 3–5.6%, confirmed as largely due to direct effects in sib-pair analyses, and was separately associated with volume of neonatal brain structures involved in motor control. This study offers biological insights into a key behavioural marker of neurodevelopment.</p>

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Genome-wide association meta-analysis of age at onset of walking in over 70,000 infants of European ancestry

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年5月7日

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  • Anna Gui,
  • Anja Hollowell,
  • Emilie M. Wigdor,
  • Morgan J. Morgan,
  • Laurie J. Hannigan,
  • Elizabeth C. Corfield,
  • Veronika Odintsova,
  • Jouke-Jan Hottenga,
  • Andrew Wong,
  • René Pool,
  • Harriet Cullen,
  • Siân Wilson,
  • Varun Warrier,
  • Espen M. Eilertsen,
  • Ole A. Andreassen,
  • Christel M. Middeldorp,
  • Beate St Pourcain,
  • Meike Bartels,
  • Dorret I. Boomsma,
  • Catharina A. Hartman,
  • Elise B. Robinson,
  • Tomoki Arichi,
  • Anthony D. Edwards,
  • Mark H. Johnson,
  • Frank Dudbridge,
  • Stephan J. Sanders,
  • Alexandra Havdahl,
  • Angelica Ronald

摘要

Age at onset of walking is an important early childhood milestone which is used clinically and in public health screening. In this genome-wide association study meta-analysis of age at onset of walking (N = 70,560 European-ancestry infants), we identified 11 independent genome-wide significant loci. SNP-based heritability was 24.13% (95% confidence intervals = 21.86–26.40) with ~11,900 variants accounting for about 90% of it, suggesting high polygenicity. One of these loci, in gene RBL2, co-localized with an expression quantitative trait locus (eQTL) in the brain. Age at onset of walking (in months) was negatively genetically correlated with ADHD and body-mass index, and positively genetically correlated with brain gyrification in both infant and adult brains. The polygenic score showed out-of-sample prediction of 3–5.6%, confirmed as largely due to direct effects in sib-pair analyses, and was separately associated with volume of neonatal brain structures involved in motor control. This study offers biological insights into a key behavioural marker of neurodevelopment.