Association between P561T polymorphism in growth hormone receptor gene and mandibular prognathism: systematic review and metaanalysis

Nascimento, Mariele Andrade do; Oliveira, Daniela Silva Barroso de; Reis, Caio Luiz Bitencourt; Wambier, Letícia Maíra; Horta, Karla Carpio; Romano, Fábio Lourenço; Silva, Léa Assed Bezerra da; Nelson‐Filho, Paulo; Küchler, Érika Calvano

doi:10.29327/24816.4.2-2

Cited by 2 publications

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References 25 publications

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“…Previous studies have shown that MR was associated with SNPs in various genes such as Myosin 1H ( MYO1H ) [ 9 ], Matrilin 1 ( MATN1 ) [ 7 ], ADAM Metallopeptidase with Thrombospondin Type 1 Motif 9 ( ADAMTS9 ) [ 10 ], and Bone Morphogenic Protein 2 ( BMP2 ) [ 11 ] genes. In addition, SNPs in the gene encoding growth hormone receptor (GHR) have been associated with variations in the mandibular pattern including prognathism [ 5 , 12 ], supporting that genes coding for hormones, hormone receptors, hormone precursors, and molecules involved in hormonal synthesis could also be involved in the etiology of other phenotypes.…”

Section: Introductionmentioning

confidence: 99%

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

Küchler

Reis

Marañón‐Vásquez

et al. 2021

JPM

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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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Section: Introductionmentioning

confidence: 99%

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

Küchler

Reis

Marañón‐Vásquez

et al. 2021

JPM

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“…The GG and GA genotypes were identified in the Myosin 1H gene and the CC, CA, and AA genotypes were identified in the P561T gene, this is in accordance the study of Tassopoulou-Fishel et al ., 2012. [ 10 11 20 29 30 31 32 33 34 ]…”

Section: Discussionmentioning

confidence: 99%

Polymorphism analysis of myosin 1H (G/A) and P561T (C/A) genes on class I, class II, and class III malocclusion

et al. 2022

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CONTEXT: Besides environmental factors, genetic factors play an important role in the etiology of malocclusion. Polymorphisms of the Myosin 1H gene in orofacial muscle fibers are thought to influence the growth and development of the mandible. Growth hormone receptors are present on the growth of cartilage, especially the condyle of the mandible. The polymorphisms of the growth hormone receptor have an effect on the growth and development of the mandible. The potential of the Myosin 1H and P561T genes as bioindicators in aiding diagnosis of malocclusion is quite good based on the available literature. However, until now there has been no research that has observed genetic analysis on polymorphism-based malocclusion of the Myosin 1H and P561T genes in the Indonesian population. AIMS: To determine the relationship between polymorphisms of Myosin 1H and P561T genes, towards the growth and development of the mandible in malocclusion cases. SETTINGS AND DESIGN: Subjects were patients aged 17--45 years old with skeletal malocclusions who were undergoing or were about to undergo orthodontic treatment at RSGM-FKG UI (Universitas Indonesia's Dental Hospital), with 50 people in each group. METHODS AND MATERIAL: Malocclusions were determined based on radiographic analysis of the initial cephalometry using the Stainer method. DNA samples were extracted from buccal swabs and blood cells in Class I and II malocclusion while nail clippings and hair follicles extracts were used in Class III malocclusion. DNA sequence amplification was carried out using Polymerase Chain Reaction, while Genetic Polymorphism Analysis of Myosin 1H and P561T genes was performed with Restriction Fragment Length Polymorphism. STATISTICAL ANALYSIS USED: Pearson Chi-Square was used to analyze the Myosin 1H gene, while the Fisher Exact Test was used to analyze the P561T gene. RESULTS: A relationship between Myosin 1H gene polymorphism and Class I, II, and III skeletal malocclusion was found. There was no correlation between P561T gene polymorphism and Class I, II, and III skeletal malocclusion. CONCLUSIONS: Myosin 1H gene polymorphism is one of the risk factors for Class I, II, and III malocclusion. Extraction of DNA from hair follicles gave good results in terms of DNA quality and was a relatively easier sampling method compared to blood cell purification and buccal swabs.

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Association between P561T polymorphism in growth hormone receptor gene and mandibular prognathism: systematic review and metaanalysis

Cited by 2 publications

References 25 publications

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

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

Polymorphism analysis of myosin 1H (G/A) and P561T (C/A) genes on class I, class II, and class III malocclusion

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