Evidence map›Paper›PMID 32996630›Full record

ArticleGenetic epidemiology2021

Innovative approach to identify multigenomic and environmental interactions associated with birth defects in family-based hybrid designs.

Xiang-Yang Lou, Ting-Ting Hou, Shou-Ye Liu, Hai-Ming Xu, Feng Lin, Xinyu Tang, Stewart L MacLeod, Mario A Cleves, Charlotte A Hobbs

Open access · greenAbstract read
In one paragraph

Article in Genetic epidemiology, 2021. 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, top 87% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  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

9 authors at 6 institutions in 2 countries.

Xiang-Yang LouDepartment of Biostatistics, College of Public Health and Health Professions and College of Medicine, University of Florida, Gainesville, Florida, USA.ORCID 0000-0002-8305-827X
Ting-Ting HouDepartment of Biostatistics, College of Public Health and Health Professions and College of Medicine, University of Florida, Gainesville, Florida, USA.
Shou-Ye LiuInstitute of Bioinformatics and Institute of Crop Science, College of Agriculture and Biotechnology, Zhejiang University, Hangzhou, China.
Hai-Ming XuInstitute of Bioinformatics and Institute of Crop Science, College of Agriculture and Biotechnology, Zhejiang University, Hangzhou, China.
Feng LinInstitute of Bioinformatics and Institute of Crop Science, College of Agriculture and Biotechnology, Zhejiang University, Hangzhou, China.
Xinyu TangThe US Food and Drug Administration, Silver Spring, Maryland, USA.
Stewart L MacLeodArkansas Children's Research Institute, Little Rock, Arkansas, USA.
Mario A ClevesDepartment of Pediatrics, Morsani College of Medicine, Health Informatics Institute, University of South Florida, Tampa, Florida, USA.
Charlotte A HobbsRady Children's Institute for Genomic Medicine, San Diego, California, USA.
Zhejiang University · CNUniversity of Florida · USArkansas Children's Hospital · USChildren’s Institute · USUnited States Food and Drug Administration · USUniversity of South Florida · 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
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
Detection of multifactor interactions with application to nicotine dependenceR01DA025095 · NIDA · UNIVERSITY OF VIRGINIA · PI LOU, XIANG-YANG · 2008 to 2013
$1.1M
NCBDD CDC HHS U01 DD000491NCBDD CDC HHS U01 DD001039NICHD NIH HHS R01 HD039054NIDA NIH HHS R01 DA025095
6 · The paper itself

Abstract

Genes, including those with transgenerational effects, work in concert with behavioral, environmental, and social factors via complex biological networks to determine human health. Understanding complex relationships between causal factors underlying human health is an essential step towards deciphering biological mechanisms. We propose a new analytical framework to investigate the interactions between maternal and offspring genetic variants or their surrogate single nucleotide polymorphisms (SNPs) and environmental factors using family-based hybrid study design. The proposed approach can analyze diverse genetic and environmental factors and accommodate samples from a variety of family units, including case/control-parental triads, and case/control-parental dyads, while minimizing potential bias introduced by population admixture. Comprehensive simulations demonstrated that our innovative approach outperformed the log-linear approach, the best available method for case-control family data. The proposed approach had greater statistical power and was capable to unbiasedly estimate the maternal and child genetic effects and the effects of environmental factors, while controlling the Type I error rate against population stratification. Using our newly developed approach, we analyzed the associations between maternal and fetal SNPs and obstructive and conotruncal heart defects, with adjustment for demographic and lifestyle factors and dietary supplements. Fourteen and 11 fetal SNPs were associated with obstructive and conotruncal heart defects, respectively. Twenty-seven and 17 maternal SNPs were associated with obstructive and conotruncal heart defects, respectively. In addition, maternal body mass index was a significant risk factor for obstructive defects. The proposed approach is a powerful tool for interrogating the etiological mechanism underlying complex traits.

Indexed as

Heart Defects, CongenitalModels, GeneticCase-Control StudiesHumansPolymorphism, Single NucleotideRisk Factorscase-control family designcongenital heart defectsenvironmental factorsfetal genesgenetic association and linkageinteractionsmaternal genes

Identifiers

PMID32996630
PMCPMC8495752
OpenAlexW3089356137

What Socratic holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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 Socratic graph.