scholarly journals Identification Of PAX9 Single Nucleotide Polymorphism In Class III Malocclusion Patients With Mandibular Prognatism

2017 ◽  
Vol 16 (2) ◽  
Author(s):  
Noraini Abu Bakar ◽  
Khairani Idah Mokhtar ◽  
Azrul Fazwan Kharuddin

Introduction: PAX9 (Paired box 9) gene is one of the genes which play significant role during craniofacial development. Single nucleotide polymorphism (SNP) in PAX9 has been associated with Class II/Division 2 malocclusion (with or without hypodontia). However, the relationship between PAX9 SNP marker (rs8004560) with mandibular prognathism (MP) has not been analysed, at least in our local population. This study aimed to detect the presence of PAX9 (rs8004560) SNP in Class III malocclusion patients (with MP) in the local population. Materials and Methods: Genomic DNA were extracted from unstimulated saliva of 31 class I malocclusion (control samples) and 30 patients from Class III malocclusion (MP). Cephalometric measurements were performed prior to saliva samples collection. The DNA was amplified using the specific primers for the marker rs8004560 and the genotyping was done by sequencing. Chi-square test was used to determine the overrepresentation of marker allele (p<0.05). Results:  Presence of PAX9 SNP (rs8004560) was detected in local population analysed and the distribution of its genotype and allele could be observed. There were significant differences between allele (p=0.000) and genotype (p=0.000) frequency within control (Class I) and Class III malocclusion. Conclusion(s): The most common allele of a marker flanking PAX9 (rs8004560) was over-represented in the mandibular prognathism (MP) subjects indicating the genetic association of PAX9 (rs8004560) SNP in the incidence of MP. Further studies involving larger number of samples should be developed in order to understand the exact role and mechanism of PAX9 in different classes of malocclusions.

2017 ◽  
Vol 16 (2) ◽  
Author(s):  
Siti Nazirah Yahya ◽  
Nurul Syafiqah Abdul Razak ◽  
Noraini Abu Bakar ◽  
Khairani Idah Mokhtar ◽  
Azrul Fazwan Kharuddin

Introduction: Evidence suggests that several genes; including MYO1H, play an important role in the etiology of Class III malocclusion. Single nucleotide polymorphism (SNP) in marker rs10850110 (locus 12q24.11) within MYO1H gene has been associated with the incidence of mandibular prognathism (MP). MYO is a class 1 myosin that is responsible for the synthesis of Matrilin-1; an important protein involved in the formation of cartilage's extracellular matrix, hence is implicated in the formation of mandibular condyle cartilage. This study aimed to detect the presence of MYO1H (rs10850110) SNP and to determine its genotype and allele distribution in MP patient in the local population. Materials and Methods: The sample comprises of 31 patients; 14 patients from class I malocclusion (control samples) and 17 patients from class III malocclusion (MP). Cephalometric measurements were performed prior to saliva samples collection. The DNA was amplified using the specific primers for the marker rs10850110 and the genotyping was done by sequencing. Chi-square test was used to determine the over-representation of marker allele (p<0.05). Results:  Presence of MYO1H SNP (rs10850110) was detected in local population analysed and the distribution of its genotype and allele could be observed. There were significant differences between allele (p=0.000) and genotype (p=0.000) frequency within control (Class I) and Class III malocclusion. Conclusion(s):  Our findings are in agreement with previous studies suggesting positive influence of MYO1H (rs10850110) SNP in the incidence of MP. Further studies should be developed in order to understand the exact role and mechanism of MYO1H in different classes of malocclusions.


2017 ◽  
Vol 16 (2) ◽  
Author(s):  
Khairani Idah Mokhtar ◽  
Noraini Abu Bakar ◽  
Azrul Fazwan Kharuddin

Introduction: Runt-related transcription factor 2 (RUNX2) plays important roles in osteoblast differentiation, tooth development and chondrocyte maturation; hence its involvement in craniofacial development is paramount. Mutation in RUNX2 is implicated with cleidocranial dysplasia; a bone development disorder, while single nucleotide polymorphism (SNP) in RUNX2 is associated with Class II/2 malocclusion. This study aimed to determine RUNX2 SNP of DNA marker (rs6930053) in malocclusion patients from local population. Materials and Methods: Genomic DNA were extracted from unstimulated saliva of 31 Class I (control samples), 30 Class II and 30 Class III malocclusion patients. Cephalometric measurements were performed prior to saliva samples collection. The DNA was amplified using the specific primers for marker rs6930053 and the genotyping was done by sequencing. Chi-square test was used to determine differences in allele and genotype frequencies (p<0.05). Results:  No significant differences were observed in RUNX2 SNP (rs8004560) in Class I and Class III malocclusion. However, there were significant differences between allele (p=0.000) and genotype (p=0.000) frequency within Class II alone; while significant differences was detected only in allele frequency between control and Class II malocclusion (p=0.019). Conclusion(s):  There is genetic association between RUNX2 (rs6930053) in Class II malocclusion in our population. Further studies involving larger number of samples and other DNA markers of RUNX2 gene should be developed in order to understand the exact role and mechanism of RUNX2 in different classes of malocclusions. 


Author(s):  
Anjana Atteeri ◽  
Praveen Kumar Neela ◽  
Pavan Kumar Mamillapalli ◽  
Vasu M. Sesham ◽  
Sreekanth Keesara ◽  
...  

Abstract Background Mandibular prognathism (MP) is a craniofacial deformity resulting from the combined effects of environmental and genetic factors. Although various linkage and genome-wide association studies for mandibular prognathism have identified multiple strongly associated regions and genes, the causal genes and variants responsible for the deformity remained ambiguous. Aim This research work was aimed to study the association between polymorphism rs10850110 of the MYO1H gene and skeletal class-III malocclusion in our local population. Materials and Methods Thirty patients with skeletal class III due to mandibular prognathism in the study group and 30 patients with skeletal class I in the control group were selected for this study. These patients were from both sexes and above age 10 years. Based on the cephalometric values, patients were categorized into study and control groups. SNB (angle between sella, nasion and point B at nasion) greater than 82 degrees with an ANB (angle between point A, nasion and point B at nasion) of less than 0 degrees in the study group and ANB (angle between point A, nasion and point B at nasion) of 2 to 4 degrees in the control group were categorized. The polymorphism (rs10850110) of the MYO1H gene was genotyped using polymerase chain reaction and restriction fragment length polymorphism. Associations were tested with SNP exact test using SNPstats software. Results The single-nucleotide polymorphism rs10850110 showed a statistically significant association with mandibular prognathism. The G allele of marker rs10850110 (5′ of myosin1H - MYO1H) was overrepresented when compared with the “A” allele in mandibular prognathism cases (p < 0.0001), and this was very significant. Conclusion These results suggest that the rs10850110 polymorphism of the MYO1H gene is associated with an increased risk for mandibular prognathism.


2010 ◽  
Vol 16 (11) ◽  
pp. 1303-1307 ◽  
Author(s):  
Naghmeh Jafari ◽  
Linda Broer ◽  
Ilse A Hoppenbrouwers ◽  
Cornelia M van Duijn ◽  
Rogier Q Hintzen

Background: Multiple sclerosis is a presumed autoimmune disease associated with genetic and environmental risk factors such as infectious mononucleosis. Recent research has shown infectious mononucleosis to be associated with a specific HLA class I polymorphism. Objectives: Our aim was to test if the infectious mononucleosis-linked HLA class I single nucleotide polymorphism (rs6457110) is also associated with multiple sclerosis. Methods: Genotyping of the HLA-A single nucleotide polymorphism rs6457110 using TaqMan was performed in 591 multiple sclerosis cases and 600 controls. The association of multiple sclerosis with the HLA-A single nucleotide polymorphism was tested using logistic regression adjusted for age, sex and HLA-DRB1*1501. Results: HLA-A minor allele (A) is associated with multiple sclerosis (OR = 0.68; p = 4.08 × 10 -5). After stratification for HLA-DRB1*1501 risk allele (T) carrier we showed a significant OR of 0.70 ( p = 0.003) for HLA-A. Conclusions: HLA class I single nucleotide polymorphism rs6457110 is associated with infectious mononucleosis and multiple sclerosis, independent of the major class II allele, supporting the hypothesis that shared genetics may contribute to the association between infectious mononucleosis and multiple sclerosis.


2015 ◽  
Vol 15 (3) ◽  
pp. 611-620 ◽  
Author(s):  
Jie Wang ◽  
Guowu Li ◽  
Mauricio A. Elzo ◽  
Linjun Yan ◽  
Shiyi Chen ◽  
...  

Abstract The purpose of this research was to investigate the effect of the POU1F1 gene on meat quality traits in the Hyla, Champagne, and Tianfu Black rabbit breeds. We detected one single nucleotide polymorphism and the SNP was located at 536 bp in intron 5 of this gene. Chi-square tests showed that the genotypic frequencies in the three rabbit populations were not in Hardy-Weinberg equilibrium. The PIC values indicated that the three populations had intermediate levels of genetic diversity. Rabbits with the CC genotype had a significantly greater pH0h than those with the CT genotype in the biceps femoris muscle. The least squares means for cooking loss in CT and CC rabbits were significantly higher than those for TT rabbits. Rabbits with the CC genotype had a significantly higher intramuscular fat content in the longissimus dorsi and biceps femoris muscles than those with genotype TT and CT. Thus, the results here indicate that this POU1F1 SNP may be of potential use in marker assisted selection for meat quality traits in rabbits.


2019 ◽  
Vol 2 (4) ◽  
pp. 5-13
Author(s):  
Asraa Faris Aldoghachi ◽  
Pike-See Cheah ◽  
Normala Ibrahim ◽  
Munn Sann Lye ◽  
King-Hwa Ling

Major depressive disorder (MDD) is a serious mental illness with a multifactorial aetiology that was shown to influence behaviour and affect cognition. Previous research has favoured the involvement of dopamine in the aetiology of the disorder, and since one of the critical regulators of the dopamine levels and activity in the brain is DAT1, the present study investigated the association of a single nucleotide polymorphism in the DAT1 gene (rs40184) and MDD in the Malaysian population. A total of 300 cases and 300 matched controls were recruited from four Klang valley hospitals and were screened for DAT1 rs40184 using high resolution melting assays. The allele and genotype frequencies were analysed by using Chi-square. Hardy Weinberg equilibrium for the distribution of alleles and genotypes was tested by using Chi-square. Determination of the association between rs40184 and MDD was achieved by conditional logistic regression using SPSS. In the present study, no significant association was obtained between DAT1 and MDD in the Malaysian population.


2017 ◽  
Vol 88 (1) ◽  
pp. 52-57 ◽  
Author(s):  
Young Tak Choi ◽  
Yoon-Ji Kim ◽  
Kyung-Sook Yang ◽  
Dong-Yul Lee

ABSTRACT Objectives: To investigate the retromolar space available for molar distalization in patients with mandibular prognathism. Materials and Methods: Using cone-beam computed tomography, the posterior mandibular dimensions in 110 consecutive patients with Class I or Class III malocclusion were measured (mean age, 27.0 ± 7.1 years). The shortest linear distances from the distal root of the right mandibular second molar to the inner border of the mandibular cortex were measured at the level of root furcation and 2, 4, and 6 mm apical to the furcation along the sagittal line and the posterior line of occlusion. The retromolar distances were compared between the Class I and Class III malocclusion groups using general linear mixed models. Results: The retromolar space measured through the sagittal line showed no significant intergroup difference. Among the distances measured through the posterior line of occlusion, the space measured at depths 0 and 2 mm to the furcation were significantly greater in the Class III group than in the Class I group. Conclusions: Patients with Class III malocclusion have greater retromolar space for mandibular molar distalization along the posterior line of occlusion only at the level of the second molar furcation.


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