Microsatellite genome-wide association study for mandibular prognathism

Area of Science:

• Genetics
• Human Anatomy
• Population Studies

Background:

• Previous genome-wide linkage studies for mandibular prognathism susceptibility genes yielded inconsistent results.
• No prior genome-wide association studies (GWAS) have been conducted for mandibular prognathism.

Purpose of the Study:

• To perform a GWAS using 23,465 microsatellite markers.
• To identify susceptibility regions for mandibular prognathism.

Main Methods:

• Utilized a pooled DNA method with two screening steps: whole genome and individual genotyping.
• Included 240 experimental subjects and 360 control subjects from the Japanese population.

Main Results:

• Identified two suggestive associations on chromosomes 1q32.2 (P = 4.22 × 10⁻⁴) and 1p22.3 (P = 6.66 × 10⁻⁴).
• Suggested PLXNA2 and SSX2IP as candidate genes.
• Chromosome 1p22.3 region supports previous linkage analysis findings.

Conclusions:

• Two loci, 1q32.2 and 1p22.3, are likely susceptibility regions for mandibular prognathism.
• 1q32.2 represents a novel locus for mandibular prognathism.
• The identification of 1p22.3 supports prior linkage analysis results.