rs929387 of GLI3 is involved in tooth agenesis in Chinese Han population.

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Tooth agenesis is one of the most common anomalies of human dentition . Recent studies suggest that a number of genes are related to both syndromic and non-syndromic forms of hypodontia . In a previous study , we observed that polymorphism in rs 929387 of GLI 3 might be associated with hypodontia in the Chinese Han population based on a limited population . To further confirm this observation , in this study , we employed 89 individuals diagnosed with sporadic non-syndromic oligodontia (40 males and 49 females ) to investigate the relationship between polymorphism in rs 929387 of GLI 3 and tooth agenesis . These individuals were analyzed with 273 subjects (125 males and 148 females ) diagnosed with non-syndromic hypodontia and 200 healthy control subjects (100 males and 100 females ). DNA was obtained from whole blood or saliva samples and genotyping was performed by a Matrix-Assisted Laser Desorption /Ionization Time of Flight Mass Spectrometry (MALDI-TOF MS ) method . Significant differences were observed in the allele and genotype frequencies of rs 929387 of GLI 3 . Distributions of genotypes TT , TC and CC of rs 929387 polymorphism were significantly different between the case group and the control group (P = 0 .013 ) and C allelic frequency was higher in case group [P = 0 .002 , OR = 1 .690 , 95 % CI (1 .200 -2 .379 )]. Additionally , our analysis shows that this difference is more pronounced when compared between the male case group and the male control group . The function study suggests that variation in GLI 3 caused by rs 929387 leads to a decrease in its transcriptional activity . These data demonstrated an association between rs 929387 of GLI 3 and non-syndromic tooth agenesis in Chinese Han individuals . This information may provide further understanding of the molecular mechanisms of tooth agenesis . Furthermore , GLI 3 can be regarded as a marker gene for the risk of tooth agenesis .