Evidence map›Paper›PMID 41378749›Full record

ArticleBirth defects research2025

Folate Interaction With Genetic Risk for Neural Tube Defects Among Infants in Bangladesh.

Enrique Mondragon-Estrada, Xingyan Wang, Michael D Uhler, Afifah Farooque, Kelly Liu, Sudipta Kumer Mukherjee, Sheikh Muhammad Ekramullah, D M Arman, Joynul Islam, Hafiza Sultana Suchanda and 4 more

Abstract read
In one paragraph

Article in Birth defects research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

14 authors.

Enrique Mondragon-EstradaDivision of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
Xingyan WangDepartment of Environmental Health, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
Michael D UhlerDivision of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
Afifah FarooqueDepartment of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Kelly LiuDivision of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
Sudipta Kumer MukherjeeDepartment of Paediatric Neurosurgery, National Institute of Neurosciences and Hospital (NINS&H), Dhaka, Bangladesh.
Sheikh Muhammad EkramullahDepartment of Paediatric Neurosurgery, National Institute of Neurosciences and Hospital (NINS&H), Dhaka, Bangladesh.
D M ArmanDepartment of Paediatric Neurosurgery, National Institute of Neurosciences and Hospital (NINS&H), Dhaka, Bangladesh.
Joynul IslamDepartment of Clinical Neurosurgery, National Institute of Neurosciences and Hospital (NINS), Dhaka, Bangladesh.
Hafiza Sultana SuchandaPediatric Neurosurgery Research Committee, National Institute of Neurosciences and Hospital (NINS), Dhaka, Bangladesh.
David C ChristianiDepartment of Environmental Health, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
Benjamin C WarfDepartment of Neurosurgery, Boston Children's Hospital, Boston, Massachusetts, USA.
Maitreyi MazumdarDepartment of Environmental Health, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
Sarah U MortonDivision of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.ORCID 0000-0002-7816-2646

Funding

Translational Research Support CoreP30ES000002 · NIEHS · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI JAIME ELIZABETH HART · 1985 to 2026
$44.6M
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Hisashi Umemori · 2021 to 2026
$9.4M
Does arsenic increase risk of neural tube defects in a highly-exposed population?R01ES026317 · NIEHS · BOSTON CHILDREN'S HOSPITAL · PI MAZUMDAR, MAITREYI · 2016 to 2020
$2.2M
Examining tissue-specific DNA methylation after prenatal exposure to arsenic among infants with spina bifidaR21ES030784 · NIEHS · BOSTON CHILDREN'S HOSPITAL · PI MAZUMDAR, MAITREYI · 2020 to 2021
$497k
2019 International NTD ConferenceR13HD100191 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI MAZUMDAR, MAITREYI · 2019 to 2019
$18k
Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD P50 HD105351NICHD NIH HHS P50 HD105351NICHD NIH HHS R13 HD100191NIEHS NIH HHS NIEHS R01 ES026317NIEHS NIH HHS P30 ES000002NIEHS NIH HHS R01 ES026317NIEHS NIH HHS R21 ES030784
6 · The paper itself

Abstract

backgroundNeural tube defects such as spina bifida (SB) are congenital anomalies associated with significant morbidity and mortality worldwide. Environmental factors, particularly folate, modify SB risk. Based on recurrence rates of SB within families, genetic risk also contributes to SB development. However, the effect of maternal folate intake on genetic risk for SB in Bangladesh has not been quantified.

methodsGenetic variants were imputed from array data of 112 infants with SB and 116 infants without SB. After quality filtering, genome-wide association was performed on 91 infants with SB and 97 without. Maternal folate intake and maternal nail arsenic concentration were included as covariates and interaction terms (SNP × Folate, SNP × Arsenic) along with maternal age, infant sex, and 10 principal components as covariates.

resultsTwo loci had variants nominally associated with SB: one within the coding region of WWOX, including rs7184417 (odds ratio [OR] = 6.20, p = 2.22E-06), and a second in the coding region of ISOC2 (rs4801638; OR = 0.24, p = 5.75E-06). With the gene-folate interaction, a locus in CNTN5 was associated with SB. After including the gene-arsenic interaction, the gene-folate interaction effect was nominally associated with a locus in CTNNA2.

conclusionsInclusion of maternal folate intake as a covariate and interaction term identified three genomic loci that could impact the risk for SB. A fourth locus was identified when maternal arsenic level was included. These nominal associations should be assessed in additional cohorts with larger sample sizes. Novel genes impacted by these loci may interact with previously reported genes for SB.

Indexed as

Folic AcidNeural Tube DefectsAdultArsenicBangladeshFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansInfantInfant, NewbornMalePolymorphism, Single NucleotidePregnancyRisk FactorsSpinal DysraphismArsenicFolic AcidBangladeshfolategenome wide association studyneural tube defect

Identifiers

PMID41378749
PMCPMC12697008

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