PDGFRA gene, maternal binge drinking and obstructive heart defects.

Sci Rep

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.

Published: July 2018

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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6056529PMC
http://dx.doi.org/10.1038/s41598-018-29160-9DOI Listing

Publication Analysis

Top Keywords

pdgfra gene
8
gene maternal
8
maternal binge
8
binge drinking
8
obstructive heart
8
heart defects
8
pdgf genes
8
interactions variants
8
alcohol exposure
8
maternal
6

Similar Publications

Background: Spinal cord injury (SCI) inflicts a severe burden on patients and lacks effective treatments. Owing to the poor regenerative capabilities of endogenous oligodendrocyte precursor cells (OPCs) following SCI, there is a growing interest in alternative sources, such as human umbilical cord mesenchymal stem cells (HUCMSCs). TET3 is a key DNA demethylase that plays an important role in neural differentiation, but its role in OPC formation is not well understood.

View Article and Find Full Text PDF
Article Synopsis
  • - The study focuses on cancer-associated fibroblasts (CAF) in tumors, particularly looking at the markers FAP and PDGFR in bladder and prostate cancers, noting the complexity and variation of CAF functions in tumor development.
  • - Researchers analyzed tissue samples from 34 prostate cancer patients and 44 bladder cancer patients to identify the relationship between CAF markers and cancer characteristics like stage, morphology, and survival.
  • - Findings show that FAP is linked to metastasis and recurrence in prostate cancer, while its presence is exclusive to invasive bladder cancers, highlighting FAP's potential as a significant marker for diagnosing and understanding treatment resistance in genitourinary tumors.
View Article and Find Full Text PDF

Discovery of Potential Candidate Genes for Coat Colour in Wuzhishan Pigs by Integrating SNPs and mRNA Expression Analysis.

Animals (Basel)

December 2024

National Engineering Laboratory for Animal Breeding, MOA Key Laboratory of Animal Genetics and Breeding, Beijing Key Laboratory for Animal Genetic Improvement, State Key Laboratory of Animal Biotech Breeding, Frontiers Science Center for Molecular Design Breeding, Department of Animal Genetics and Breeding, College of Animal Science and Technology, China Agricultural University, Beijing 100193, China.

Despite identifying genes regulating the coat colour in Western pig breeds, the genetic basis of the coat colour in Chinese indigenous pigs is still not understood due to the diversity of indigenous breeds and their genetic differences from exotic pigs. In this study, 215 Wuzhishan pigs with three coat colour patterns (white, black, and black-back/white-belly) were used to conduct a genome-wide association analysis. We found that genes responsible for the coat colour in the Wuzhishan breed are located on chromosome 8.

View Article and Find Full Text PDF

Next-generation sequencing RNA fusion panel for the diagnosis of haematological malignancies.

Pathology

November 2024

Department of Haematology, Monash Health, Clayton, Vic, Australia; Department of Diagnostic Genomics, Monash Health, Clayton, Vic, Australia; School of Clinical Sciences, Monash University, Clayton, Vic, Australia. Electronic address:

Haematological malignancies are being increasingly defined by gene rearrangements, which have traditionally been detected by karyotype, fluorescent in situ hybridisation (FISH) or reverse-transcriptase polymerase chain reaction (RT-PCR). However, these traditional methods may miss cryptic gene rearrangements and are limited by the number of gene rearrangements screened at any one time. A next-generation sequencing (NGS) RNA fusion panel is an evolving technology that can identify multiple fusion transcripts in a single molecular assay, even without prior knowledge of breakpoints or fusion partners.

View Article and Find Full Text PDF

The basic helix-loop-helix transcription factor HAND2 has multiple roles during vertebrate organogenesis, including cardiogenesis. However, much remains to be uncovered about its mechanism of action. Here, we show the generation of several hand2 mutant alleles in zebrafish and demonstrate that dimerization-deficient mutants display the null phenotype but DNA-binding-deficient mutants do not.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!