Expressional Analysis of MSX1 (Human) Revealed its Role in Sagittal Jaw Relationship

Abnormal skeletal jaw relationships is an important factor causing difficulty in speech, mastication, sleep and social interaction, thus affect the overall well being of an individual.

The present study was an attempt to decipher the role of human MSX1 in terms of sagittal jaw relationship by employing Polymerase Chain Reaction (PCR) based analysis.

Ninety-eight case subjects belonging to North India with skeletal Class II and Class III jaw relationships were selected. Further, thirty-five control subjects of the same region having Class I skeletal and dental relationships (normal Jaw relationships) with good alignment of all teeth were enrolled. MSX1 gene sequencing was performed using the subjects' blood samples. Multiple sequence alignment was performed to find Single Nucleotide Polymorphisms (SNP's). Nine SNP's were obtained of which seven were reported and two novels. Statistical analysis was performed using Chi square test to compare genotype differences between case and control groups.

SNP rs186861426 was found to be significantly associated in Class I subjects (p-value=0.02). The sequencing results suggested that individuals having changes from G (guanosine) with A (adenine) genotype had approximately seven times low risk for developing Class II division 1 malocclusion as compared to those alleles having GG genotype and therefore, allele 'A' position on chromosome 4 (rs186861426) seems to have a protective role.

The study unfolds an important relationship between MSX1 gene and Class II division 1 malocclusion and Class I normal skeletal relationships. The study tried to interpret the role of human MSX1 and extend the gene pool responsible for the skeletal anomalies related to development of abnormal upper and lower jaws.