Genetic variants in bone morphogenetic proteins signaling pathway might be involved in palatal rugae phenotype in humans

Abstract

This study investigated, if genetic variants in BMP2, BMP4 and SMAD6 are associated with variations in the palatal rugae pattern in humans. Dental casts and genomic DNA from 75 patients were evaluated. Each patient was classified as follows: total amount of rugae; bilateral symmetry in the amount, length and shape of the palatal rugae; presence of secondary or fragmentary palatal rugae; presence of unifications; predominant shape; and predominant direction of the palatal rugae. The genetic variants in BMP2 (rs1005464 and rs235768), BMP4 (rs17563) and SMAD6 (rs2119261 and rs3934908) were genotyped. Genotype distribution was compared between palatal rugae patterns using the chi-square test (alpha = 0.05). The allele A was associated with the presence of secondary or fragmentary rugae for rs1005464 (OR = 2.5, 95%CI 1.1–6.3; p = 0.014). Secondary or fragmentary rugae were associated with the G allele in rs17563 (OR = 2.1, 95%CI 1.1–3.9; p = 0.017). rs17563 was also associated with rugae unification (p = 0.017 in the additive model). The predominant shape (wavy) was associated with rs2119261 (p = 0.023 in the additive model). The left–right symmetry of the length of primary rugae was associated with rs3934908 in the recessive model (OR = 3.6, 95%CI 1.2–11.7; p = 0.025). In conclusion, genetic variants in the BMP pathway impacted on palatal rugae pattern.

Interference of orthodontic treatment in the human identification process by the palatine rugae

“…It is worth noting, nonetheless, that of 51 models, there were 12 brown people and no black people. We recommend that the ethnic differences and a higher study population be analyzed, in a society as mixed-race as Brazil's furthermore, genetic phenotypes such as BMPs have been shown to in uence the phenotype of palatal rugae [29].…”

Single nucleotide polymorphisms in odontogenesis-related genes associated with tooth-size discrepancy

“…12 Therefore, it is hypothesised that SNPs in SMAD6 are involved in tooth morphogenesis. In addition, SNPs in SMAD6 have already been associated with other craniofacial traits, as craniosynostosis, 24 skeletal patterns, 25 palatal rugae, 26 and tooth agenesis. 27 Of note, some of these factors have been associated with tooth size variation, 14 suggesting that these different phenotypes share a common genetic background.…”