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Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one‐carbon metabolism networks
- Source :
- Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
- Publication Year :
- 2020
- Publisher :
- Wiley, 2020.
-
Abstract
- Abstract Background Neural tube defects (NTDs) are the second most common complex birth defect, yet, our understanding of the genetic contribution to their development remains incomplete. Two environmental factors associated with NTDs are Folate and One Carbon Metabolism (FOCM) and Glucose Homeostasis and Oxidative Stress (GHOS). Utilizing next‐generation sequencing of a large patient cohort, we identify novel candidate genes in these two networks to provide insights into NTD mechanisms. Methods Exome sequencing (ES) was performed in 511 patients, born with myelomeningocele, divided between European American and Mexican American ethnicities. Healthy control data from the Genome Aggregation database were ethnically matched and used as controls. Rare, high fidelity, nonsynonymous predicted damaging missense, nonsense, or canonical splice site variants in independently generated candidate gene lists for FOCM and GHOS were identified. We used a gene‐based collapsing approach to quantify mutational burden in case and controls, with the control cohort estimated using cumulative allele frequencies assuming Hardy–Weinberg equilibrium. Results We identified 45 of 837 genes in the FOCM network and 22 of 568 genes in the GHOS network as possible NTD risk genes with p
- Subjects :
- exome sequencing
folate
glucose
mutation burden
Myelomeningocele
Genetics
QH426-470
Subjects
Details
- Language :
- English
- ISSN :
- 23249269
- Volume :
- 8
- Issue :
- 11
- Database :
- Directory of Open Access Journals
- Journal :
- Molecular Genetics & Genomic Medicine
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.0209ff22ada74b249d679797bfbed3e7
- Document Type :
- article
- Full Text :
- https://doi.org/10.1002/mgg3.1495