Evidence map›Paper›PMID 21987465›Full record

ArticleBirth defects research. Part A, Clinical and molecular teratology2011

Evaluation of heterogeneity in the association between congenital heart defects and variants of folate metabolism genes: conotruncal and left-sided cardiac defects.

Jin Long, Philip J Lupo, Elizabeth Goldmuntz, Laura E Mitchell

Open access · bronzeAbstract read
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Article in Birth defects research. Part A, Clinical and molecular teratology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.5field-weighted citation impact, top 18% 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

5 citing papers in PubMed, 10 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

4 authors at 3 institutions in 1 country.

Jin LongInstitute of Biosciences and Technology, Texas A&M University System Health Science Center, Houston, USA.
Philip J Lupo
Elizabeth Goldmuntz
Laura E Mitchell
The University of Texas Health Science Center at Houston · USChildren's Hospital of Philadelphia · USTexas A&M University System · US

Funding

INSTITUTIONAL CLINICAL AND TRANSLATIONAL SCIENCE AWARDUL1RR024134 · NCRR · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2006 to 2011
$70.4M
Institutional Clinical and Translational Science AwardUL1TR000003 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2012 to 2015
$38.9M
ZIDOVUDINE VS 2',3'DIDEHYDRO-3'DEOXYTHYMIDINE IN CHILDRENM01RR000240 · NCRR · CHILDREN'S HOSP OF PHILADELPHIA · PI ALTSCHULER, STEVEN M · 1985 to 2006
$15.3M
The Genetic Etiology of Left-Sided Cardiac DefectsR01HL074094 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI GOLDMUNTZ, ELIZABETH · 2003 to 2007
$2.6M
The Genetic Etiology of Conotruncal Cardiac DefectsR01HL076773 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI GOLDMUNTZ, ELIZABETH · 2004 to 2007
$1.3M
NCATS NIH HHS UL1 TR000003NCRR NIH HHS M01 RR000240NCRR NIH HHS M01-RR-000240NCRR NIH HHS UL1 RR024134NCRR NIH HHS UL1-RR-024134NHLBI NIH HHS HL076773NHLBI NIH HHS HL74094NHLBI NIH HHS R01 HL074094
6 · The paper itself

Abstract

backgroundGenetic variation in the folate metabolic pathway may influence the risk of congenital heart defects. This study was undertaken to assess the associations between the inherited and maternal genotypes for variants in folate-related genes and the risk of a composite heart phenotype that included two component phenotypes: conotruncal heart defects (CTDs) and left-sided cardiac lesions (LSLs).

methodsNine folate-related gene variants were evaluated using data from 692 case-parent triads (CTD, n = 419; LSL, n = 273). Log-linear analyses were used to test for heterogeneity of the genotype-phenotype association across the two component phenotypes (i.e., CTD and LSLs) and, when there was no evidence of heterogeneity, to assess the associations of the maternal and inherited genotypes with the composite phenotype.

resultsThere was little evidence of heterogeneity of the genotype-phenotype association across the two component phenotypes or of an association between the genotypes and the composite phenotype. There was evidence of heterogeneity in the association of the maternal MTR A2756G genotype (p = 0.01) with CTDs and LSLs. However, further analyses suggested that the observed associations with the maternal MTR A2756G genotype might be confounded by parental imprinting effects.

conclusionsOur analyses of these data provide little evidence that the folate-related gene variants evaluated in this study influence the risk of this composite congenital heart defect phenotype. However, larger and more comprehensive studies that evaluate parent-of-origin effects, as well as additional folate-related genes, are required to more fully explore the relation between folate and congenital heart defects.

Indexed as

GenotypeFemaleFolic AcidGenetic Predisposition to DiseaseHeart Defects, CongenitalHumansMaleRisk FactorsFolic Acid

Identifiers

PMID21987465
PMCPMC3257803
OpenAlexW2055301633

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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.