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Küchler, Erika ; Reis, Caio ; Marañón-Vásquez, Guido ; Nelson-Filho, Paulo ; Matsumoto, Mírian ; Stuani, Maria ; Oliveira, Maria ; Proff, Peter ; Kirschneck, Christian

Parathyroid Hormone Gene and Genes Involved in the Maintenance of Vitamin D Levels Association with Mandibular Retrognathism

Küchler, Erika, Reis, Caio , Marañón-Vásquez, Guido, Nelson-Filho, Paulo , Matsumoto, Mírian, Stuani, Maria , Oliveira, Maria, Proff, Peter and Kirschneck, Christian (2021) Parathyroid Hormone Gene and Genes Involved in the Maintenance of Vitamin D Levels Association with Mandibular Retrognathism. Journal of Personalized Medicine 11 (5), p. 369.

Date of publication of this fulltext: 01 Jun 2021 15:28
Article
DOI to cite this document: 10.5283/epub.45912


Abstract

In this study we evaluated whether single nucleotide polymorphisms (SNPs) in the genes encoding PTH, VDR, CYP24A1, and CYP27B1 were associated with mandibular retrognathism (MR). Samples from biologically-unrelated Brazilian patients receiving orthodontic treatment were included in this study. Pre-orthodontic lateral cephalograms were used to determine the phenotype. Patients with a retrognathic ...

In this study we evaluated whether single nucleotide polymorphisms (SNPs) in the genes encoding PTH, VDR, CYP24A1, and CYP27B1 were associated with mandibular retrognathism (MR). Samples from biologically-unrelated Brazilian patients receiving orthodontic treatment were included in this study. Pre-orthodontic lateral cephalograms were used to determine the phenotype. Patients with a retrognathic mandible were selected as cases and those with an orthognathic mandible 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 (22 males and 26 females) MR and 43 (17 males and 26 females) controls were included. The linear mandibular and the angular measurements were statistically different between MR and controls (p < 0.05). In the genotype and allele distribution analysis, the SNPs rs694, rs307247, and rs464653 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.



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Details

Item typeArticle
Journal or Publication TitleJournal of Personalized Medicine
Publisher:MDPI
Open Access Type:Gold (with APC)
Place of Publication:BASEL
Volume:11
Number of Issue or Book Chapter:5
Page Range:p. 369
Date2 May 2021
InstitutionsMedicine > Lehrstuhl für Kieferorthopädie
Identification Number
ValueType
10.3390/jpm11050369DOI
KeywordsPOLYMORPHISMS; PTH; CYP27B1; CYP24A1; EXPRESSION; CELLS; RAT; mandible; retrognathism; gene; polymorphism
Dewey Decimal Classification600 Technology > 610 Medical sciences Medicine
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgYes
URN of the UB Regensburgurn:nbn:de:bvb:355-epub-459123
Item ID45912

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