Association of BMP4 polymorphisms with isolated tooth agenesis in a Chinese Han population: a case-control study

Tooth agenesis is a common craniofacial anomaly in human beings. Mounting evidence has demonstrated that the bone morphogenetic protein 4 gene (BMP4) plays an important role in tooth development. This case-control study was designed to evaluate the association of the polymorphism rs17563 in BMP4 gene with susceptibility of isolated human tooth agenesis in a Chinese Han population.

335 tooth agenesis cases and 444 healthy controls were included in this study.

Although no significant association was observed either in the overall or stratified analysis between the types and the severity of missing teeth. However, significant difference was observed between the anterior and posterior tooth agenesis (APTA) cases and the controls (p = 0.018 for allele distribution and OR = 0.39, 95% CI = 0.15-0.99). Furthermore, the heterozygote (TC) and dominant model (CC+TC) were associated with decreased risk of APTA compared with the control (phet = 0.018, ORhet = 0.39, 95% CIhet = 0.15-0.99 and pdom = 0.042, ORdom = 0.34, 95% CIdom = 0.13-0.87, respectively).

These results indicated that rs17563 in BMP4 gene was potentially associated with APTA in Chinese Han population and further independent studies are required to verify these findings.