Exploring the association between PITX2, third molars agenesis and sella turcica morphology : PITX2, third molars agenesis and sella turcica morphology.

OBJECTIVES: PITX2 is required for mammalian development and single nucleotide polymorphisms (SNPs) in this gene could be involved in dental agenesis and sella turcica patterns. Thus, the present study evaluated the association between SNPs in PITX2, third molars agenesis and sella turcica phenotypes. MATERIALS AND METHODS: The sample consisted of healthy orthodontic German patients with lateral cephalometric radiographs with clearly visualization of the sella turcica, and dental orthopantomograms. The morphological variations of the sella turcica were evaluated using the lateral cephalograms, while third molar agenesis was evaluated using orthopantomograms. DNA isolated from buccal cells was used for genotyping three SNPs in PITX2 (rs3796902, rs1947187, and rs2595110). The analyzes were performed using a significance of 5%. There was no association between third molar agenesis and sella turcica phenotypes (p > 0.05). SNPs in PITX2 were also not associated with third molars agenesis (p > 0.05). RESULTS: SNPs in PITX2 were associated with sella turcica phenotypes. The rs3796902 was associated with hypertrophic posterior clinoid process (p = 0.013). The rs1947187 and rs2595110 were associated with sella turcica bridge type A (p = 0.013 and p = 0.011, respectively for genotype distribution). Patients that carry the genotypes GG-CC-AG (rs3796902- rs1947187- rs2595110) had 7.2 higher chance to present sella turcica bridge type A (p = 0.002; Odds ratio = 7.2, Confidence interval 95% 2.04-27.04). CONCLUSIONS: Third molar agenesis was not associated with SNPs in PITX2 and sella turcica phenotypes. SNPs in PITX2 may have an important role in sella turcica pattern.

Assessing the relationship between single nucleotide polymorphisms in Wingless signaling pathway genes and sella turcica morphology.

Sella turcica development involves molecular factors and genes responsible for ossification. It is possible that single nucleotide polymorphisms (SNPs) in key genes are involved in morphological variation of sella turcica. Genes belonging to the WNT signaling pathway are involved in the ossification process and are candidates of sella turcica morphology. This study aimed to evaluate if SNPs in WNT6 (rs6754599) and WNT10A (rs10177996 and rs3806557) genes are associated with the calcification and patterns of the sella turcica. Nonsyndromic individuals were included in the research. Cephalometric radiographs were examined and the sella calcification was evaluated and classified according to the calcification of the interclinoid ligament (no calcification, partial calcification, and incomplete calcification) and sella turcica pattern (normal sella turcica, bridge type A-ribbon-like fusion, bridge type B-extension of the clinoid processes, incomplete bridge, hypertrophic posterior clinoid process, hypotrophic posterior clinoid process, irregularity in the posterior part, pyramidal shape of the dorsum, double contour of the floor, oblique anterior wall, and oblique contour of the floor). DNA samples were used to evaluate SNPs in the WNT genes (rs6754599, rs10177996, and rs3806557) using real-time PCR. Chi-square test or Fisher's exact test were used to compare the allele and genotype distributions according to sella turcica phenotypes. The alpha was set as 5% for all comparisons. A total of 169 individuals were included, 133 (78.7%) present sella turcica partially or completely calcified. Sella turcica anomalies were found in 131 individuals (77.5%). Sella turcica bridge type A (27.8%), posterior hypertrophic clinoid process (17.1%), and sella turcica bridge type B (11.2%) were the most prevalent morphological patterns observed. Individuals carrying the TT genotype in rs10177996 (TT vs. CT + CC) had higher chance to present a partially calcified sella turcica (p = 0.047; Odds ratio = 2.27, Confidence Interval 95% 1.01-5.13). In conclusion, the SNP in WNT10A is associated with the calcification phenotype of the sella turcica, the pleiotropic effect of this gene should be taken into consideration in future studies.