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

J Dent Res. 2011 Jan;90(1):53-7. doi: 10.1177/0022034510382546. Epub 2010 Nov 1.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Cephalometry
  • Child
  • China
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 14 / genetics
  • Chromosomes, Human, Pair 21 / genetics
  • Chromosomes, Human, Pair 4 / genetics
  • Ethnicity / genetics*
  • Female
  • Genes, Dominant / genetics
  • Genetic Linkage / genetics
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Haplotypes / genetics
  • Humans
  • Latent TGF-beta Binding Proteins / genetics
  • Lod Score
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • Prognathism / ethnology
  • Prognathism / genetics*
  • Transforming Growth Factor beta3 / genetics
  • Young Adult

Substances

  • LTBP2 protein, human
  • Latent TGF-beta Binding Proteins
  • TGFB3 protein, human
  • Transforming Growth Factor beta3