Evidence map›Paper›PMID 42818975›Full record

ArticleResearch square2026

GWAS integrating maternal and child genetics reveals novel risk-modifying loci for fetal alcohol spectrum disorders (FASD).

Vivek Ruhela, Corina Lesseur, Ariadna Cilleros-Portet, Sandra W Jacobson, Joseph L Jacobson, Ernesta M Meintjes, Neil C Dodge, Tugba Akkaya-Hocagil, H Eugene Hoyme, Haoxiang Cheng and 5 more

Abstract readPreprint
In one paragraph

Article in Research square, 2026. 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

15 authors.

Vivek RuhelaDepartment of Neurology, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, and Gertrude H. Sergievsky Center, Columbia Vagelos College of Physicians and Surgeons, New York, New York, USA.
Corina LesseurDepartment of Environmental Medicine and Public Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Ariadna Cilleros-PortetDepartment of Environmental Medicine and Public Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Sandra W JacobsonDepartment of Psychiatry and Behavioral Neurosciences, Wayne State University School of Medicine, Detroit, Michigan, USA.
Joseph L JacobsonDepartment of Psychiatry and Behavioral Neurosciences, Wayne State University School of Medicine, Detroit, Michigan, USA.
Ernesta M MeintjesDepartment of Human Biology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.ORCID 0000-0002-0781-3632
Neil C DodgeDepartment of Psychiatry and Behavioral Neurosciences, Wayne State University School of Medicine, Detroit, Michigan, USA.
Tugba Akkaya-HocagilDepartment of Biostatistics, School of Medicine, Ankara University, Ankara, Turkey.
H Eugene HoymeSanford Children's Genomic Medicine Consortium, Sanford Health, Sioux Falls, South Dakota; Department of Pediatrics, USA.
Haoxiang ChengDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Jia ChenDepartment of Environmental Medicine and Public Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Ke HaoDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-1815-9197
Maya A DeyssenrothDepartment of Environmental Health Sciences, Mailman School of Public Health, Columbia University, New York, NY, USA.
Giuseppe TostoDepartment of Neurology, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, and Gertrude H. Sergievsky Center, Columbia Vagelos College of Physicians and Surgeons, New York, New York, USA.ORCID 0000-0001-7075-8245
R Colin CarterDepartment of Human Biology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.

Funding

Recruitment and Retention for Alzheimer's Disease Diversity Genetic Cohorts in the ADSP (READD-ADSP)U19AG074865 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI GOLDIE S. BYRD, William S Bush · 2022 to 2026
$55.3M
GLASS-AD: Global Latinos Sequencing Study for Alzheimer's DiseaseU01AG081817 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MARTIN, EDEN R., PERICAK-VANCE, MARGARET A. · 2023 to 2025
$8.2M
Neural Bases of Eyeblink Conditioning in FASDR01AA016781 · NIAAA · WAYNE STATE UNIVERSITY · PI JACOBSON, SANDRA W. · 2008 to 2012
$2.5M
Identification of fetal alcohol-affected children: Alterations in imprinted gene expression and methylation as biomarkers of neurobehavioral and growth impairment.R01AA027916 · NIAAA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CARTER, ROBERT COLIN · 2019 to 2022
$2.5M
Polygenic Risk Scores for Alzheimer's Disease in Hispanic/Latinx PopulationsRF1AG082009 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI PARE, GUILLAUME, TOSTO, GIUSEPPE · 2023 to 2023
$1.9M
The Role of Maternal Nutrition in the Teratogenesis of Alcohol in HumansK23AA020516 · NIAAA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CARTER, ROBERT COLIN · 2011 to 2015
$891k
Behavioral Characteristics and Neural Correlates of Reading Impairment in FASDR01AA023503 · NIAAA · WAYNE STATE UNIVERSITY · PI GAAB, NADINE, JACOBSON, SANDRA W. · 2018 to 2019
$640k
Identification of FASD in South African ChildrenU01AA014790 · NIAAA · WAYNE STATE UNIVERSITY · PI JACOBSON, SANDRA W. · 2003 to 2005
$501k
NIAAA NIH HHS K23 AA020516NIAAA NIH HHS R01 AA016781NIAAA NIH HHS R01 AA023503NIAAA NIH HHS R01 AA027916NIAAA NIH HHS U01 AA014790NIA NIH HHS RF1 AG082009NIA NIH HHS U01 AG081817NIA NIH HHS U19 AG074865
6 · The paper itself

Abstract

Fetal alcohol spectrum disorders (FASD) exhibit wide phenotypic variability not explained by prenatal alcohol exposure (PAE) alone. While genetic factors may modify vulnerability, there are no prior FASD genome-wide association studies (GWAS). We performed genome-wide single-marker and gene-based analyses of two South African prospective birth cohorts (Cape Town Longitudinal Cohorts (CTLC); n=328 mother-child dyads) and the US Collaborative Initiative on Fetal Alcohol Spectrum Disorders cohort (CIFASD n=429 children only). We examined main genetic and gene-by-PAE interaction effects on working memory, recognition memory, height, and FASD diagnosis using single-marker and gene-based analyses and the Haplotype-based Transmission Disequilibrium Test (HTDT), which integrates maternal-child genetics. Genome-wide genotype array data were used; TOPMed-imputed data were used to refine results. Risk-modifying genes were then tested for differential mRNA expression based on PAE in placenta and child blood. Gene*PAE interaction gene-based analyses identified

Identifiers

PMID42818975
PMCPMC13622852

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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.