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

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. © 2010 Li et al.