Genetic factors underlying Mandibular prognathism: insights from recent human and animal studies

This review aims to provide an updated overview of the genetic etiology of mandibular prognathism (MP), focusing on recent research efforts, to summarize the findings from human studies utilizing genome-wide association studies (GWAS), candidate gene analyses, whole exome sequencing (WES) and single-nucleotide polymorphisms (SNPs) in relation to MP. Additionally, insights from animal studies are incorporated to understand the molecular mechanisms underlying mandibular development and the pathogenesis of MP. A comprehensive literature search was conducted to identify relevant studies on the genetic basis of MP. Human studies employing GWAS, candidate gene analyses, and SNPs investigations were reviewed. Animal studies, including European seabass, zebrafish, transgenic mouse and miniature horse were also examined to provide additional insights into mandibular development and MP’s pathogenesis using GWAS, WES, transgenic techniques, morpholino antisense oligos and homozygote. Human studies have identified multiple loci and genes potentially associated with MP through GWAS, candidate gene analyses, and SNP investigations. Animal models have contributed valuable information about the molecular mechanisms involved in mandibular development and the development of MP. Recent research efforts have enhanced our understanding of the genetic etiology of MP. Integration of genetic studies with functional analyses has shed light on key signaling pathways and gene regulatory networks implicated in MP.