Research progress of proteomics in congenital craniofacial anomalies

Congenital craniofacial anomalies (CFAs) are among the most common birth defects, significantly affecting the appearance, oral function and mental health of patients. These anomalies are etiologically complex, involving genetics, environmental factors and gene-environment interactions. While genetic studies have identified numerous potential causal genes/risk loci for CFAs, the pathogenic mechanisms still largely remain elusive. Proteomics, the large-scale analysis of proteins, offers a comprehensive view of disease pathogenesis and their systemic effects. During the past two decades, the application of proteomics in CFA research has uncovered many biomarkers for early diagnosis and shed light on underlying mechanisms driving these anomalies. Here, we review the advancements and contributions of proteomics to congenital CFA research, outlining technological advances, novel findings from human body fluid proteomics, and integrative multi-omics approaches.