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

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

Qin Li  1 , Feng Zhang, Xin Li, Fengshan Chen
Affiliations

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

Qin Li et al. PLoS One. .

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.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Chart of LOD and NPL value on 4p16.1.
X axis indicates position from p terminus of chromosome (cM). Dashed line indicates LOD scores, and solid line indicates NPL scores. LOD: logarithm (base 10) of odds. NPL: value of non-parametric linkage analysis.
Figure 2
Figure 2. The pedigree chart of mandibular prognathism families.
The mandibular prognathism samples are indicated by darkened (affected) circles or squares. The squares indicate male; the circles indicate female; the diagonal lines indicate deceased family members.
Figure 3
Figure 3. Cephalometric tracing and major measurements.
Co-Gn (mm), mandibular unit lengh; Go-Gn (mm), mandibular corpus lengh; SN (mm) anteroposterior lengh of cranial base; wits (mm), length of distance AO-BO; ANB, anteroposterior relation of maxilla and mandible; SNA, anteroposterior maxillary position to anterior cranial plane; SNB, anteroposterior mandibular postion to anterior cranial plane; SN to GoGn (angle1), inclination of SN to mandibular plane GoGn; SN to FH (angle 2), inclination of SN to FH plane; FH to GoGn (angle 3), inclination of FH to mandibular plane GoGn.
See this image and copyright information in PMC

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