Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Genes Involved in the Maintenance of Vitamin D Levels Might Be Associated With Mandibular Retrognathism

Version 1 : Received: 29 March 2021 / Approved: 31 March 2021 / Online: 31 March 2021 (17:28:37 CEST)

A peer-reviewed article of this Preprint also exists.

Küchler, E.C.; Reis, C.L.B.; Marañón-Vásquez, G.; Nelson-Filho, P.; Matsumoto, M.A.N.; Stuani, M.B.S.; Oliveira, M.A.H.M.; Proff, P.; Kirschneck, C. Parathyroid hormone Gene and Genes Involved in the Maintenance of Vitamin D Levels Association with Mandibular Retrognathism. J. Pers. Med. 2021, 11, 369. Küchler, E.C.; Reis, C.L.B.; Marañón-Vásquez, G.; Nelson-Filho, P.; Matsumoto, M.A.N.; Stuani, M.B.S.; Oliveira, M.A.H.M.; Proff, P.; Kirschneck, C. Parathyroid hormone Gene and Genes Involved in the Maintenance of Vitamin D Levels Association with Mandibular Retrognathism. J. Pers. Med. 2021, 11, 369.

Abstract

: In this study we evaluated, if single nucleotide polymorphisms (SNPs) in the genes encoding PTH, VDR, CYP24A1 and CYP27B1 are associated with Mandibular Retrognathism (MR). Samples from biologically-unrelated patients receiving orthodontic treatment were included in this study. Pre-orthodontic lateral cephalograms were used to determine the phenotype. Patients having a retrognathic mandible (SNB<78º) were selected as cases and those with an orthognathic mandible (SNB=78º–82º) were selected as controls. Genomic DNA was used for genotyping analysis of SNPs in PTH (rs694, rs6256 and rs307247), VDR (rs7975232), CYP24A1 (rs464653) and CYP27B1 (rs927650). Chi-squared or Fisher’s tests were used to compare genotype and allele distribution among groups. Haplotype analysis was performed for the SNPs in PTH. The established alpha was p<0.05. Multifactor dimensionality reduction (MDR) was used to identify SNP-SNP interactions. A total of 48 MR and 43 controls were included. In the genotype and allele distribution analysis, the SNPs rs694, rs307247 and rs464653 in were associated with MR (p<0.05). MDR analyses predicted the best interaction model for MR was rs694-rs927650, followed by rs307247-rs464653-rs927650. Some haplotypes in the PTH gene presented statistical significance. Our results suggest that SNPs in PTH, VDR, CYP24A1 and CYP27B1 genes are associated with the presence of mandibular retrognathism.

Keywords

mandible; retrognathism; gene; polymorphism

Subject

Medicine and Pharmacology, Immunology and Allergy

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