BACKGROUND Mandibular retrognathism is a common oral and maxillofacial deformity that may cause a series of physical and psychological diseases. Many studies indicated that genetic factors play an important role in the occurrence of mandibular retrognathism. In this study, we assess the association between polymorphism rs67920064 in ADAMTS9 gene and mandibular retrognathism in a Chinese population. MATERIAL AND METHODS Sixty participants (20 to 45 y, mean age 32.79 y) were classified into Class I or mandibular retrognathism skeletal-facial profile groups in accordance with cephalometric parameters. Thirty patients with mandibular retrognathism were assigned to the subject group; the others were assigned to the control group. Cephalometric parameters including sella-nasion A point, SN point B, condylion-gnathion (Gn), and gonion-Gn were recorded. Saliva samples from these participants were collected and polymerase chain reaction-restriction fragment length polymorphism was used to distinguish different genotypes of the rs67920064 single nucleotide polymorphisms (SNPs).We evaluated the correlation between mandibular retrognathism and polymorphism rs67920064 in the ADAMTS9 gene. RESULTS The distribution of rs67920064 gene polymorphism in ADAMST9 gene conforms to Hardy-Weinberg equilibrium. The A point-nasion-B point angle of the participants with the GA genotype of the rs67920064 SNP showed significantly decreased values (P<0.05), but there was no difference in length of mandibular body. Beyond that, the chi-square test showed that the GA genotype of rs67920064 SNP was highly associated with mandibular retrognathism (P<0.05). CONCLUSIONS Our research shows that there is an association between polymorphism rs67920064 in the ADAMTS9 gene and mandibular retrognathism in the Chinese population. Individuals with the GA phenotype are more likely to have mandibular retrognathism.