The identification of a novel locus for mandibular prognathism in the Han Chinese population

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. © 2011 international & american associations for dental research.