Prematurity and genetic liability for autism spectrum disorder

Preterm birth may exacerbate multimorbidity present in ASD, which was not due to ASD-associated genetic variants. However, increased ASD-associated rare variants may elevate the likelihood of a preterm child being diagnosed with ASD. Additionally, a polygenic load of ASD-associated variants had an additive role with preterm birth in the predicted probability for ASD, especially for boys. Future integration of genetic and phenotypic data in larger preterm or population-based cohorts will be crucial for advancing early ASD identification in preterm subgroup.

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Publication Details

Journal
Genome Medicine
Published
2025-10-02
DOI
https://doi.org/10.1186/s13073-025-01552-3
Citations
1
Primary Topic
Autism Spectrum Disorder Research
Type
article
Field-Weighted Citation Impact
1.43

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article

Prematurity and genetic liability for autism spectrum disorder

Ashraf Yahia, Sven Sandin, Kristiina Tammimies, Ulrika Ådén et al.
1 citations
Genome Medicine
Autism Spectrum Disorder Research
1.43
article

Prematurity and genetic liability for autism spectrum disorder

Ashraf Yahia, Sven Sandin, Kristiina Tammimies, Ulrika Ådén, Yali Zhang
article en
1 citations

Abstract

Preterm birth may exacerbate multimorbidity present in ASD, which was not due to ASD-associated genetic variants. However, increased ASD-associated rare variants may elevate the likelihood of a preterm child being diagnosed with ASD. Additionally, a polygenic load of ASD-associated variants had an additive role with preterm birth in the predicted probability for ASD, especially for boys. Future integration of genetic and phenotypic data in larger preterm or population-based cohorts will be crucial for advancing early ASD identification in preterm subgroup.

Genome MedicineVol. 17(1)
Linköping University (SE), Karolinska University Hospital (SE), Karolinska Institutet (SE), Mount Sinai Medical Center (US), Icahn School of Medicine at Mount Sinai (US)
Stiftelsen för Strategisk Forskning, Karolinska Institutet, Vetenskapsrådet, China Scholarship Council, Sällskapet Barnavård, National Institutes of Health, Uppsala Multidisciplinary Center for Advanced Computational Science
Openalex Percentile: Top 15%
Autism Spectrum Disorder Research
1.43
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Prematurity and genetic liability for autism spectrum disorder — Ashraf Yahia, Sven Sandin, et al. · Genome Medicine (2025) | TGRS Research Map | TGRS