Evidence map›Paper›PMID 41358299›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Genome x Environment analysis of Sudden Unexpected Infant Death unveils etiologic heterogeneity and strong cannabis and genetic disease risks.

Stephen F Kingsmore, Gretchen Bandoli, Daniel C Helbling, Rebecca Baer, Eric Blincow, Bryant Cao, Erwin Frise, Alaina Heinen, Laura Jelliffe-Pawlowski, Erica Sanford Kobayashi and 10 more

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors.

Stephen F KingsmoreRady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.ORCID 0000-0001-7180-2527
Gretchen BandoliDepartment of Pediatrics, University of California San Diego, San Diego, CA 92093, USA.
Daniel C HelblingRady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
Rebecca BaerDepartment of Pediatrics, University of California San Diego, San Diego, CA 92093, USA.
Eric BlincowRady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
Bryant CaoRady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
Erwin FriseGeneDx, Inc., Oakland, CA 94612, USA.
Alaina HeinenRady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
Laura Jelliffe-PawlowskiDepartment of Obstetrics & Gynecology, Grossman School of Medicine, NYU Langone Health, New York, NY 10010.
Erica Sanford KobayashiRady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
Lucita Van Der KraanRady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
Hugh KwonRady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
Rishona LavyRady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
Barry MooreDepartment of Human Genetics, University of Utah, Salt Lake City, UT 84132, USA.
Danny OhRady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
Scott OltmanCalifornia Preterm Birth Initiative, University of California San Francisco, San Francisco, CA 94143.
Eric OntiverosRady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
Liana ProtopsaltisRady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
Mark YandellDepartment of Human Genetics, University of Utah, Salt Lake City, UT 84132, USA.
Christina D ChambersDepartment of Pediatrics, University of California San Diego, San Diego, CA 92093, USA.

Funding

Genomic and Environmental Determinants of Infant Deaths in San Diego County in 2015-2022R01HD101540 · NICHD · RADY PEDIATRIC GENOMICS & SYSTEMS MEDICINE INSTITUTE · PI CHAMBERS, CHRISTINA, KINGSMORE, STEPHEN FRANCIS · 2020 to 2024
$3.5M
NICHD NIH HHS R01 HD101540
6 · The paper itself

Abstract

Sudden Unexpected Infant Death (SUID), the third leading cause of infant death, has increasing incidence and multifactorial etiology. Identification of preventative interventions has hitherto been hindered by etiologic studies limited to genetic or environmental effects in isolation. Here we report a multifactorial genome x environment analysis of SUID risk. Births in San Diego County California from 2005-2018 were linked to hospital discharge summaries and death files, yielding 212 SUID cases and 620,392 infants alive at age 1 year. Whole genome sequencing (WGS) identified probable and possible genetic etiologies in 16% and 48% of SUID cases, respectively. Genetic risks were extremely heterogeneous with 144 loci contributing 173 risks in 57% of SUID cases. Genetic risk was very strong (Prevalence Risk Ratio, PRR >99) or strong (PRR 3.7 - 99) in 12% and 34% of SUID cases, respectively. Six of sixteen significant environmental risks lost significance when SUID cases without strong or very strong genetic risk were compared with infants alive at age 1 year, while SUID risk associated with prenatal cannabis increased from adjusted hazard ratio (aHR) 3.7 to 6.0, other substance abuse from aHR 2.6 to 3.5, and black race from aHR 1.9 to 2.5. Thus, genome x environment analysis of a large cohort unveiled etiologic heterogeneity and hidden SUID risks, highlighting cannabis and genetic diseases as strong risk factors. Since preventative or therapeutic interventions were available for 83% of genetic risks, newborn screening by WGS has potential for substantial SUID reduction. Educational campaigns for SUID should emphasize perinatal cannabis avoidance.

Identifiers

PMID41358299
PMCPMC12676543

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.