The prognathism of the mandible is a morphological anterior defect, characterized by mandibular hypertrophy, a concave profile and a lower lip positioned in front to the upper lip. Patients affected by prognathism often struggle with difficulty in correct articulation, disturbed breathing pathways, speech, chewing, abnormal work of the temporomandibular joint and poor mental health. Worldwide this defect is much more common in the Asian population. There have been many attempts to indicate important etiological factors, suggesting that the genetic basis may play the most important role. These conclusions were supported by an analysis of pedigrees. Thanks to technological progress and the possibility of sequencing the human genome, it was possible to determine and indicate the locus location for genes that are probably responsible for the occurrence of the defect in the studied group. Modern genome-wide association studies allow for the study of not only pedigree but also of large unrelated control and research groups. Mandibular prognathism is a poligenetically determined defect, and individual gene sequences and allele variants may be population-specific or even unique to a given family.

Key words: mandibular prognathism, candidate genes, genetic variants, angle class III, inheritance.