ASSOCIATION BETWEEN MUTATIONS OF AXIN2 AND MSX1 AND NONSYNDROMIC HYPODONTIA

Objectives: Dental agenesis is a common abnormality that has been associated with mutations in genes AXIN2 and MSX1 in diverse populations. The aim of this study was to identify the association between mutations in MSX1 and AXIN2 and non-syndromic hypodontia
Methods: 22 trios of families (probands older than 8 years with agenesis, father and mother), and a control group of 50 men and 50 women that were healthy with no history of systemic diseases, syndromes or agenesis from Bogotá (Colombia) were selected. The presence of agenesis was confirmed by medical records and radiographs. The DNA was extracted from saliva samples and PCR was performed to identify possible mutations in genes AXIN2 (rs2240308) and MSX1 SNPs (rs6446693 and rs6546694).
Results: Statistically significant association between hypodontia of the lateral incisor and mutation of MSX1 (rs6446694) was demonstrated (p =0.007). However, there were no statistically significant association between hypodontia of any tooth and mutations in MSX1 rs6446693 and AXIN2 (rs2240308)
Conclusions: These results suggest that MSX1 could be involved in the etiology of tooth agenesis in Colombian Population. Future studies could be directed to investigate the role of other polymorphisms in AXIN2 and MSX1 in agenesis of different type of tooth comparing several populations