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

doi:10.1073/pnas.2106844118

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Article

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

Proceedings of the National Academy of Sciences of the United States of America - 21 Dec 2021

Aguiar-Pulido Vanessa, Wolujewicz Paul, Martinez-Fundichely Alexander, Elhaik Eran, Thareja Gaurav, Abdel Aleem Alice, Chalhoub Nader, Cuykendall Tawny, Al-Zamer Jamel, Lei Yunping, El-Bashir Haitham, Musser James M, Al-Kaabi Abdulla, Shaw Gary M, Khurana Ekta, Suhre Karsten, Mason Christopher E, Elemento Olivier, Finnell Richard H, Ross M Elizabeth

Abstract excerpt

Spina bifida (SB) is a debilitating birth defect caused by multiple gene and environment interactions. Though SB shows non-Mendelian inheritance, genetic factors contribute to an estimated 70% of cases. Nevertheless, identifying human mutations conferring SB risk is challenging due to its relative rarity, genetic heterogeneity, incomplete penetrance, and environmental influences that hamper genome-wide...

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PMID: 34916285
DOI: 10.1073/pnas.2106844118
PMCID: PMC8713748

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