Abstract
BackgroundIt is well known that genetic components play an important role in the etiology of mandibular prognathism, but few susceptibility loci have been mapped.MethodologyIn 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 FindingThe 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.ConclusionWe 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.
Highlights
Mandibular prognathism (MP) is a common clinical problem all over the world
It is well known that environmental and genetic components have both contributed to the etiology of mandibular prognathism[4]
The previous studies [12,13] have determined some loci susceptible for MP, we found out a novel locus in Chinese Han People with slightly higher NPL and LOD scores
Summary
Mandibular prognathism (MP) is a common clinical problem all over the world. its prevalence varies relative to populations: the highest incidence has been observed in Asian populations (approximately 15%) and the lowest in Caucasian populations (1%)[1,2]. The uinque concave profile of mandibular prognathism seriously affects the masticatory function and extremely endangers psychology to patients. Today, this type of disharmony remains difficult for dentists because of varied etiologies and limited understanding of the mandibular growth[3]. It is well known that environmental and genetic components have both contributed to the etiology of mandibular prognathism[4]. The inheritance pattern of mandibular prognathism is heterogeneous, findings have been reported suggesting autosomal-recessive inheritance, autosomal-dominant inheritance, dominant inheritance with incomplete penetrance or a polygenic model of transmission[11]. It is well known that genetic components play an important role in the etiology of mandibular prognathism, but few susceptibility loci have been mapped
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