Advancements in the Etiology of Non-Syndromic Oral Cleft: Insights into Genetics, Environment, and Gene-Environment Interactions

LOU Shu^1,2,3,4, MA Lan^2,4, PAN Yongchu^1,2,3,4, WANG Meilin^1,2,5*

¹State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing 211166, China; ²State Key Laboratory of Cultivation Base of Research, Prevention and Treatment for Oral Diseases, Nanjing Medical University, Nanjing 210029, China; ³Department of Orthodontics, the Affiliated Stomatological Hospital of Nanjing Medical University, Nanjing 210029, China; ⁴Jiangsu Province Engineering Research Center of Stomatological Translational Medicine, Nanjing 210029, China; ⁵School of Public Health, Nanjing Medical University, Nanjing 211166, China)

Abstract:

NSOC (non-syndromic oral cleft) is a common craniofacial birth defect with a complex etiology influenced by both genetic and environmental factors. This article presents a thorough review of the current landscape in NSOC etiology research and outlines prospective directions for future investigations. In the realm of genetics, the exploration extends to candidate gene and pathway studies, unveiling the latest discoveries from genomewide association studies, along with breakthroughs in whole exome sequencing and whole genome sequencing. Environmental risk factors, such as malnutrition, maternal drug exposure, radiation, environmental pollution, and prenatal infections, are scrutinized for their impact on NSOC, underscoring their intimate associations with craniofacial development. Additionally, this review delves into the intricate interplay between genetic and environmental factors and outlines potential directions for future research in NSOC etiology. These prospects hold the potential to furnish more comprehensive and precise strategies for the treatment and prevention of NSOC.