Absence of association between transforming growth factor-beta1 promoter polymorphisms and hypodontia.

Hypodontia, the congenital absence of one or a few teeth, is one of the most common alterations of the human dentition. The most common permanent missing teeth are the third molars, second premolars, and maxillary lateral incisors. Although hypodontia does not represent a serious public health problem, it may cause masticatory and speech dysfunctions and esthetic problems. Transforming growth factor-beta1 (TGF-beta1) is believed to play an important role in tooth development. Its gene is expressed at bud, cap, and bell stages of odontogenesis. Genetic polymorphisms in the TGF-beta1 gene promoter were shown to interfere with the transcriptional activity of this gene. To further investigate the role of the TGF-beta1 gene in human hypodontia, we analyzed the frequencies of the -509 polymorphism (C-T) alleles and -800 polymorphism (G-A) alleles and genotypes in the TGF-beta1 gene promoter in 51 Caucasian subjects with hypodontia and 48 control individuals. Our data suggest that these TGF-beta1 promoter polymorphisms are not associated with hypodontia.