Wong Ethan S, Hu Daniel A, Zhang Lily, Qi Rachel, Xu Cindy, Mei Ou, Shen Guowei, You Wulin, Luo Changqi, He Tong-Chuan, Reid Russell R, Shi Lewis S, Lee Michael J, Zhu Yi
Molecular Oncology Laboratory Department of Orthopaedic Surgery and Rehabilitation Medicine The University of Chicago Medical Center Chicago IL USA.
Pritzker School of Medicine The University of Chicago Medicine Chicago IL USA.
Pediatr Discov. 2025 Jan 25;3(2):e2517. doi: 10.1002/pdi3.2517. eCollection 2025 Jun.
Spina bifida is a birth defect resulting from abnormal embryonic development of the neural tube. Though spina bifida is divided into several subtypes, myelomeningocele-the most severe form of spina bifida often associated with a markedly diminished quality of life-accounts for a significant portion of cases. A broad range of genetic and environmental factors, many of which are still unknown, influence spina bifida, making it difficult to provide a comprehensive etiology for the disorder. Folic acid supplementation aided by the mandatory fortification of food is preventive; still, spina bifida persists due to numerous other confounding factors that affect risk. This article reviews the latest studies pertaining to the risk factors and genetics involved in spina bifida in an attempt to elucidate the complex background of the congenital malformation. Additionally, this review highlights the significant impact of environmental pollutants, adverse medication effects, and maternal health conditions such as diabetes and obesity on the prevalence of spina bifida. Emerging research on gene-environment interactions provides insight into how specific genetic variants may influence susceptibility to these environmental factors. We also discuss new technologies in genetic sequencing that show promise for the large-scale discovery of genes associated with spina bifida risk. Understanding these intricate interactions is crucial for developing effective prevention and intervention strategies.
脊柱裂是一种由神经管胚胎发育异常导致的出生缺陷。尽管脊柱裂分为几种亚型，但脊髓脊膜膨出——脊柱裂最严重的形式，常伴有明显下降的生活质量——在病例中占很大比例。多种遗传和环境因素（其中许多仍不为人知）会影响脊柱裂，这使得难以提供该疾病的全面病因。通过食品强制强化辅助的叶酸补充具有预防作用；然而，由于影响风险的众多其他混杂因素，脊柱裂仍然存在。本文综述了与脊柱裂相关的风险因素和遗传学的最新研究，试图阐明这种先天性畸形的复杂背景。此外，本综述强调了环境污染物、药物不良反应以及糖尿病和肥胖等母体健康状况对脊柱裂患病率的重大影响。关于基因 - 环境相互作用的新研究为特定基因变异如何影响对这些环境因素的易感性提供了见解。我们还讨论了基因测序中的新技术，这些技术有望大规模发现与脊柱裂风险相关的基因。了解这些复杂的相互作用对于制定有效的预防和干预策略至关重要。
