Genomic Approaches to the Assessment of Human Spina Bifida Risk

Overview

Journal Birth Defects Res

Specialties Reproductive Medicine
Toxicology

Date 2016 Nov 25

PMID 27883265

Citations 13

Authors

M Elizabeth Ross

Christopher E Mason

Richard H Finnell

Affiliations

Soon will be listed here.

Abstract

Structural birth defects are a leading cause of mortality and morbidity in children world-wide, affecting as much as 6% of all live births. Among these conditions, neural tube defects (NTDs), including spina bifida and anencephaly, arise from a combination of complex gene and environment interactions that are as yet poorly understood within human populations. Rapid advances in massively parallel DNA sequencing and bioinformatics allow for analyses of the entire genome beyond the 2% of the genomic sequence covering protein coding regions. Efforts to collect and analyze these large datasets hold promise for illuminating gene network variations and eventually epigenetic events that increase individual risk for failure to close the neural tube. In this review, we discuss current challenges for DNA genome sequence analysis of NTD affected populations, and compare experience in the field with other complex genetic disorders for which large datasets are accumulating. The ultimate goal of this research is to find strategies for optimizing conditions that promote healthy birth outcomes for individual couples. Birth Defects Research 109:120-128, 2017. © 2016 Wiley Periodicals, Inc.

Citing Articles

Genome-wide analysis of spina bifida risk variants in a case-control study from Bangladesh.

Tindula G, Issac B, Mukherjee S, Ekramullah S, Arman D, Islam J Birth Defects Res. 2024; 116(3):e2331.

PMID: 38526198 PMC: 10963057. DOI: 10.1002/bdr2.2331.

Analysis of Gut Characteristics and Microbiota Changes with Maternal Supplementation in a Neural Tube Defect Mouse Model.

Cordero-Varela J, Reyes-Corral M, Lao-Perez M, Fernandez-Santos B, Montenegro-Elvira F, Sempere L Nutrients. 2023; 15(23).

PMID: 38068802 PMC: 10708240. DOI: 10.3390/nu15234944.

A quest for genetic causes underlying signaling pathways associated with neural tube defects.

Rai S, Leydier L, Sharma S, Katwala J, Sahu A Front Pediatr. 2023; 11:1126209.

PMID: 37284286 PMC: 10241075. DOI: 10.3389/fped.2023.1126209.

Implication of chromosomal microarray analysis prior to in-utero repair of fetal open neural tube defect.

Zemet R, Krispin E, Johnson R, Kumar N, Westerfield L, Stover S Ultrasound Obstet Gynecol. 2023; 61(6):719-727.

PMID: 36610024 PMC: 10238557. DOI: 10.1002/uog.26152.

Systems biology analysis of human genomes points to key pathways conferring spina bifida risk.

Aguiar-Pulido V, Wolujewicz P, Martinez-Fundichely A, Elhaik E, Thareja G, Abdel Aleem A Proc Natl Acad Sci U S A. 2021; 118(51).

PMID: 34916285 PMC: 8713748. DOI: 10.1073/pnas.2106844118.

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