Evidence map›Paper›PMID 25846410›Full record

ArticleAmerican journal of medical genetics. Part A2015

Obstructive heart defects associated with candidate genes, maternal obesity, and folic acid supplementation.

Xinyu Tang, Mario A Cleves, Todd G Nick, Ming Li, Stewart L MacLeod, Stephen W Erickson, Jingyun Li, Gary M Shaw, Bridget S Mosley, Charlotte A Hobbs and 1 more

Open access · greenAbstract read
In one paragraph

Article in American journal of medical genetics. Part A, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 3 pooled it
2.4field-weighted citation impact, top 12% of its field
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

21 citing papers in PubMed, 3 syntheses or guidelines pooled it, 40 citations in OpenAlex.

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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

11 authors at 2 institutions in 1 country.

Xinyu TangBiostatistics Program, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Mario A ClevesDivision of Birth Defects Research, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Todd G NickBiostatistics Program, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Ming LiBiostatistics Program, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Stewart L MacLeodDivision of Birth Defects Research, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Stephen W EricksonDepartment of Biostatistics, College of Public Health, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Jingyun LiBiostatistics Program, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Gary M ShawDivision of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University Medical School, Palo Alto, California.
Bridget S MosleyDivision of Birth Defects Research, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Charlotte A HobbsDivision of Birth Defects Research, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
National Birth Defects Prevention Study
University of Arkansas for Medical Sciences · USStanford University · US

Funding

Genomic/Epigenomic Factors and Non-Syndromic Congenital Heart Defect Risk R01HD039054 · NICHD · ARKANSAS CHILDREN'S HOSPITAL RES INST · PI HOBBS, CHARLOTTE A · 2000 to 2016
$13.6M
Arkansas Center for Clinical and Translational ResearchUL1TR000039 · NCATS · UNIV OF ARKANSAS FOR MED SCIS · PI BECK, CORNELIA MARIE, JAMES, LAURA P · 2012 to 2014
$10.0M
Centers for Birth Defects Research and Prevention (CBDRPs)U01DD000491 · DD · ARKANSAS CHILDREN'S HOSPITAL RES INST · PI HOBBS, CHARLOTTE A · 2009 to 2013
$4.3M
Arkansas Center for Clinical Translational ResearchKL2TR000063 · NCATS · UNIV OF ARKANSAS FOR MED SCIS · PI BECK, CORNELIA MARIE, JAMES, LAURA P · 2012 to 2014
$459k
NCATS NIH HHS KL2TR000063NCATS NIH HHS UL1TR000039NCBDD CDC HHS 5U01DD000491-05NCBDD CDC HHS U01 DD000491NICHD NIH HHS 5R01HD039054-12NICHD NIH HHS R01 HD039054
6 · The paper itself

Abstract

Right-sided and left-sided obstructive heart defects (OHDs) are subtypes of congenital heart defects, in which the heart valves, arteries, or veins are abnormally narrow or blocked. Previous studies have suggested that the development of OHDs involved a complex interplay between genetic variants and maternal factors. Using the data from 569 OHD case families and 1,644 control families enrolled in the National Birth Defects Prevention Study (NBDPS) between 1997 and 2008, we conducted an analysis to investigate the genetic effects of 877 single nucleotide polymorphisms (SNPs) in 60 candidate genes for association with the risk of OHDs, and their interactions with maternal use of folic acid supplements, and pre-pregnancy obesity. Applying log-linear models based on the hybrid design, we identified a SNP in methylenetetrahydrofolate reductase (MTHFR) gene (C677T polymorphism) with a main genetic effect on the occurrence of OHDs. In addition, multiple SNPs in betaine-homocysteine methyltransferase (BHMT and BHMT2) were also identified to be associated with the occurrence of OHDs through significant main infant genetic effects and interaction effects with maternal use of folic acid supplements. We also identified multiple SNPs in glutamate-cysteine ligase, catalytic subunit (GCLC) and DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B) that were associated with elevated risk of OHDs among obese women. Our findings suggested that the risk of OHDs was closely related to a combined effect of variations in genes in the folate, homocysteine, or glutathione/transsulfuration pathways, maternal use of folic acid supplements and pre-pregnancy obesity.

Indexed as

AdultBetaine-Homocysteine S-MethyltransferaseCardiomyopathy, HypertrophicDietary SupplementsDNA (Cytosine-5-)-MethyltransferasesDNA Methyltransferase 3BFemaleFolic AcidGene-Environment InteractionGene ExpressionGlutamate-Cysteine LigaseGlutathioneHomocysteineHumansInfantMethylenetetrahydrofolate Reductase (NADPH2)Betaine-Homocysteine S-MethyltransferaseBHMT2 protein, humanBHMT protein, humanDNA (Cytosine-5-)-MethyltransferasesDNA Methyltransferase 3BFolic AcidGlutamate-Cysteine LigaseGlutathioneHomocysteineMethylenetetrahydrofolate Reductase (NADPH2)MTHFR protein, humancongenital heart defectsfolic acid supplementationgenetic variantshybrid designmaternal obesityobstructive heart defects

Identifiers

PMID25846410
PMCPMC4675451
OpenAlexW2036237648

What OpenQuestion holds

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Registered trials

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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.