Genome scan for locus involved in mandibular prognathism in pedigrees from China

PLoS One. 2010 Sep 10;5(9):e12678. doi: 10.1371/journal.pone.0012678.

Abstract

Background: It is well known that genetic components play an important role in the etiology of mandibular prognathism, but few susceptibility loci have been mapped.

Methodology: In order to identify linkage regions for mandibular prognathism, we analyzed two Chinese pedigrees with 6,090 genome-wide single-nucleotide polymorphism (SNP) markers from Illumina Linkage-12 DNA Analysis Kit (average spacing 0.58 cM). Multipoint parametric and non-parametric (model-free) linkage analyses were used for the pedigrees.

Principal finding: The most statistically significant linkage results were with markers on chromosome 4 (LOD=3.166 and NPL=3.65 with rs 875864, 4p16.1, 8.38 cM). Candidate genes within the 4p16.1 include EVC, EVC2.

Conclusion: We detected a novel suggestive linkage locus for mandibular prognathism in two Chinese pedigrees, and this linkage region provides target for susceptibility gene identification, a process that will provide important insights into the molecular and cellular basis of mandibular prognathism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Asian People / genetics
  • Child
  • China
  • Chromosome Mapping
  • Disease Susceptibility
  • Female
  • Genome-Wide Association Study*
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Prognathism / ethnology
  • Prognathism / genetics*
  • Young Adult