Mandibular prognathism is a common dentofacial phenotype with a substantial genetic component; however, few susceptibility loci have been mapped. Ethnicity is a risk factor for mandibular prognathism, and a relatively high prevalence is observed in Asian populations. The hypothesis of this study suggested that a specific locus for mandibular prognathism exists in the Han Chinese population. So, the authors studied a Han Chinese pedigree in which mandibular prognathism was inherited (11 affected, 10 unaffected) in an autosomal dominant pattern. A genomewide linkage scan was performed with the Illumina Linkage-12 DNA Analysis Kit. Multipoint parametric and nonparametric linkage analyses were performed with MERLIN 1.01. A susceptibility locus was identified on chromosome 14q24.3-31.2, with a nonparametric linkage score of 11.341 (empirical P = .020) and a logarithm of the odds score of 2.032 (empirical P = .008). Haplotype analysis refined the candidate locus to a 10.62-cM interval (72.42 to 83.14 cM; 74.57 to 84.66 Mb) between rs1468507 and rs7141857. Within this interval, the candidate functional genes are TGFB3 and LTBP2. In conclusion, the authors detected a suggestive linkage for mandibular prognathism in a Han Chinese pedigree, and this finding can be combined with previous studies to further understand the genetic basis of mandibular prognathism.

These newly identified key genes and pathways may provide valuable information about the pathogenesis of GDM and can be used to improve early diagnosis, prevention, medication design and clinical treatment.

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