PDGFRA gene, maternal binge drinking and obstructive heart defects

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

Obstructive heart defects (OHDs) are a major health concern worldwide. The platelet-derived growth factor ( PDGF) genes are known to have regulatory functions that are essential for proper heart development. In a zebrafish model, Pdgfra was further demonstrated to interact with ethanol during craniofacial development. In this article, we investigated interactions between variants in PDGF genes and periconceptional alcohol exposure on the risk of OHDs by applying log-linear models to 806 OHD case and 995 control families enrolled in the National Birth Defects Prevention Study. The interactions between four variants in PDGFA and maternal binge drinking reached a nominal significance level. The maternal T allele of rs869978 was estimated to increase OHD risk among women who binge drink, while infant genotypes of rs2291591, rs2228230, rs1547904, and rs869978 may reduce the risk. Although none of these associations remain statistically significant after multiple testing adjustment and the estimated maternal effect may be influenced by unknown confounding factors, such as maternal smoking, these findings are consistent with previous animal studies supporting potential interactions between the PDGFRA gene and maternal alcohol exposure. Replication studies with larger sample sizes are needed to further elucidate this potential interplay and its influence on OHD risks.

Related collections

Most cited references 35

Record: found
Abstract: found
Article: not found

Shifts in intended and unintended pregnancies in the United States, 2001-2008.

Mia Zolna, Lawrence Finer (2014)

We monitored trends in pregnancy by intendedness and outcomes of unintended pregnancies nationally and for key subgroups between 2001 and 2008. Data on pregnancy intentions from the National Survey of Family Growth (NSFG) and a nationally representative survey of abortion patients were combined with counts of births (from the National Center for Health Statistics), counts of abortions (from a census of abortion providers), estimates of miscarriages (from the NSFG), and population denominators from the US Census Bureau to obtain pregnancy rates by intendedness. In 2008, 51% of pregnancies in the United States were unintended, and the unintended pregnancy rate was 54 per 1000 women ages 15 to 44 years. Between 2001 and 2008, intended pregnancies decreased and unintended pregnancies increased, a shift previously unobserved. Large disparities in unintended pregnancy by relationship status, income, and education increased; the percentage of unintended pregnancies ending in abortion decreased; and the rate of unintended pregnancies ending in birth increased, reaching 27 per 1000 women. Reducing unintended pregnancy likely requires addressing fundamental socioeconomic inequities, as well as increasing contraceptive use and the uptake of highly effective methods.

0 comments Cited 156 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies.

Tiffany Riehle‐Colarusso, Sadia Malik, L Botto … (2007)

Classification and analysis of congenital heart defects (CHD) in etiologic studies is particularly challenging because of diversity of cardiac phenotypes and underlying developmental mechanisms. We describe an approach to classification for risk assessment of CHD based on developmental and epidemiologic considerations, and apply it to data from the National Birth Defect Prevention Study (NBDPS). The classification system incorporated the three dimensions of cardiac phenotype, cardiac complexity, and extracardiac anomalies. The system was designed to facilitate the assessment of simple isolated defects and common associations. A team with cardiologic expertise applied the system to a large sample from the NBDPS. Of the 4,703 cases of CHDs in the NBDPS with birth years 1997 through 2002, 63.6% were simple, isolated cases. Specific associations of CHDs represented the majority of the remainder. The mapping strategy generated relatively large samples for most cardiac phenotypes and provided enough detail to isolate important subgroups of CHDs that may differ by etiology or mechanism. Classification of CHDs that considers cardiac and extracardiac phenotypes is practically feasible, and yields manageable groups of well-characterized phenotypes. Although best suited for large studies, this approach to classification and analysis can be a flexible and powerful tool in many types of etiologic studies of heart defects.

0 comments Cited 116 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Haploview: Visualization and analysis of SNP genotype data.

J. Barrett (2009)

Association studies involve accessing, parsing, generating, and analyzing large volumes of data, often carried out in many steps over many months. Large-scale surveys of genetic variation, such as the International HapMap Project, and rapidly increasing volumes of single-nucleotide polymorphism (SNP) genotyping data have created exciting opportunities for association studies. However, they have further exacerbated the difficulty of curating and analyzing such data. Haploview is a program developed in Mark Daly's lab at the Broad Institute of MIT and Harvard, which is designed to bundle many everyday analysis tasks into one easy-to-use package. Haploview has several features that are useful throughout different phases of association studies. Several of these features are illustrated in this article by following a hypothetical association study from design to execution. Haploview is used to (1) analyze HapMap data and choose tag-SNPs, (2) evaluate the quality of disease genotype data, (3) test for association, and (4) evaluate a region for follow-up of a positive association.

0 comments Cited 98 times – based on 0 reviews      Review now

Bookmark

All references

Author and article information

Contributors

Charlotte A. Hobbs: HobbsCharlotte@uams.edu

Journal

Journal ID (nlm-ta): Sci Rep

Journal ID (iso-abbrev): Sci Rep

Title: Scientific Reports

Publisher: Nature Publishing Group UK (London )

ISSN (Electronic): 2045-2322

Publication date (Electronic): 23 July 2018

Publication date PMC-release: 23 July 2018

Publication date Collection: 2018

Volume: 8

Electronic Location Identifier: 11083

Affiliations

[1 ]ISNI 0000 0004 4687 1637, GRID grid.241054.6, Biostatistics Program, , University of Arkansas for Medical Sciences, Arkansas Children’s Research Institute, ; Little Rock, 72202 USA

[2 ]ISNI 0000 0004 4687 1637, GRID grid.241054.6, Division of Birth Defects Research, Department of Pediatrics, , College of Medicine, University of Arkansas for Medical Sciences, Arkansas Children’s Research Institute, ; Little Rock, 72202 USA

[3 ]ISNI 0000 0004 1936 9924, GRID grid.89336.37, Department of Molecular and Cell and Developmental Biology, , Institute for Cellular and Molecular Biology and Institute for Neuroscience, University of Texas, ; Austin, 78712 USA

[4 ]ISNI 0000 0001 0790 959X, GRID grid.411377.7, Department of Epidemiology and Biostatistics, , School of Public Health, Indiana University at Bloomington, ; Bloomington, 47405 USA

Article

Publisher ID: 29160

DOI: 10.1038/s41598-018-29160-9

PMC ID: 6056529

PubMed ID: 30038270

SO-VID: 77758564-5586-42e5-8d04-7808902f47b9

License:

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

History

Date received : 18 October 2017

Date accepted : 15 June 2018

Funding

Funded by: FundRef https://doi.org/10.13039/100006087, U.S. Department of Health & Human Services | CDC | National Center on Birth Defects and Developmental Disabilities (NCBDDD);

Award ID: 5U01DD000491-05

Award ID: U01DD000491

Award Recipient : Xinyu Tang Johann K. Eberhart Mario A. Cleves Jingyun Li Ming Li Stewart MacLeod Wendy N. Nembhard Charlotte A. Hobbs

Funded by: National Institute of Child Health and Human Development (NICHD) under award number 5R01HD039054-12

Funded by: FundRef https://doi.org/10.13039/100009633, U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD);

Award ID: R01HD039054

Award Recipient : Charlotte A. Hobbs

Funded by: FundRef https://doi.org/10.13039/100000050, U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI);

Award ID: K01HL140333

Award Recipient : Charlotte A. Hobbs

Funded by: FundRef https://doi.org/10.13039/100000072, U.S. Department of Health & Human Services | NIH | National Institute of Dental and Craniofacial Research (NIDCR);

Award ID: R01DE020884

Award Recipient : Charlotte A. Hobbs

Funded by: FundRef https://doi.org/10.13039/100000027, U.S. Department of Health & Human Services | NIH | National Institute on Alcohol Abuse and Alcoholism (NIAAA);

Award ID: R01AA023426

Award Recipient : Charlotte A. Hobbs

Custom metadata

ScienceOpen disciplines: Uncategorized

Data availability:

ScienceOpen disciplines: Uncategorized

Comments

Comment on this article

scite_

Cited by 2

See all cited by

Most referenced authors 276

See all reference authors

- Version 1

PDGFRA gene, maternal binge drinking and obstructive heart defects

Read this article at

Abstract

Related collections

Advocacy for Maternal and Women’s Health

Most cited references 35

Shifts in intended and unintended pregnancies in the United States, 2001-2008.

Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies.

Haploview: Visualization and analysis of SNP genotype data.

Author and article information

Contributors

Journal

Affiliations

Article

History

Funding

Categories

Custom metadata

Comments

Comment on this article

Similar content 318

Cited by 2

Most referenced authors 276