Introduction: Skeletal abnormalities and malocclusions have varied features that impact populatio... more Introduction: Skeletal abnormalities and malocclusions have varied features that impact populations globally, impairing aesthetics and lowering life quality. The prevalence of the Skeletal Class III disease is the lowest among all angle malocclusions, with varied prevalence across nations. Environmental, genetic, and societal factors play a role in its numerous etiologies. In this study, we conducted a thorough search across the published data relating to quantitative trait loci (QTL) and the genes associated with Class III progression in humans, discussed these findings and their limitations, and proposed future directions and strategies for studying this phenotype. Methods: An inclusive search of published papers in the PubMed and Google Scholar search engines using the following terms: 1. Human skeletal Class III; 2. Genetics of Human skeletal Class III; 3. QTL mapping and gene associated with human skeletal Class III; 4. enriched skeletal Class-III-malocclusion-associated pathwa...
The study aimed to explore the influence of genetic polymorphisms in ANKK1 and DRD2 on the signs ... more The study aimed to explore the influence of genetic polymorphisms in ANKK1 and DRD2 on the signs and symptoms of temporomandibular disorder (TMD) in construction workers. This cross-sectional study included only male subjects. All construction workers were healthy and over 18 years age. Illiterate workers and functionally illiterate workers were excluded. The diagnosis of TMD was established according to the Research Diagnostic Criteria for TMD (RDC/TMD). Genomic DNA was used to evaluate the genetic polymorphisms ANKK1 (rs1800497) and DRD2 (rs6275; rs6276) using Real-Time PCR. Chi-square or Fisher exact tests were used to evaluate genotypes and allele distribution among the studied phenotypes. The established alpha of this study was 5%. The sample included a total of 115 patients. The age of the patients ranged from 19 to 70 years (mean age 38.2; standard deviation 11.7). Chronic pain (87.7%), disc displacement (38.2%), and joint inflammation (26.9%) were the most frequently observe...
Genetic polymorphisms could explain the inter-individual differences in the oral health-related q... more Genetic polymorphisms could explain the inter-individual differences in the oral health-related quality of life (OHRQoL) of children with anterior open bite (AOB). Objective: To assess the impact of AOB on OHRQoL in children and to evaluate whether MTR (rs1805087), MTRR (rs1801394), TGFβ1 (rs1800469) and TNF-α (rs1799964, rs1799724 and rs1800629) genes are potential biomarkers for OHRQoL in children with AOB. Study design: A cross-sectional study was performed with 173 children aged between 2–6 years. The Brazilian version of Early Childhood Oral Health Impact Scale (ECOHIS) was applied. Genetic polymorphisms were analyzed using real-time PCR. Mann-Whitney U-test and Chi-square were used. Results: The overall mean ECOHIS scores were 5.49 (SD= 5.72) and 3.45 (SD = 4.49) (p < 0.01) in the AOB and control groups, respectively. Children with the CC genotype of TNF-α (rs1799724) had a significantly higher psychological QoL level. The MTRR AA genotype group showed a lower QoL level in ...
Bruxism is a masticatory muscle activity characterized by grinding of the teeth and clenching of ... more Bruxism is a masticatory muscle activity characterized by grinding of the teeth and clenching of the jaw that causes tooth wear and breakage, temporomandibular joint disorders, muscle pain, and headache. Bruxism occurs in both adults and children. Clinical characteristics and habits were evaluated in an adult sample. Moreover, we used DNA samples from 349 adults and 151 children to determine the presence of association with specific genes. Genomic DNA was obtained from saliva. The markers rs2241145 and rs243832 (metalloproteinase 2 (MMP2)), rs13925 and rs2236416 (metalloproteinase 9 (MMP9)), and rs6269 (cathecol-o-methyltransferase (COMT)) were genotyped. Data were submitted to statistical analysis with a significance level of 0.05. In adults, in univariate logistic regression, presence of caries, attrition, and use of alcohol were increased in bruxism individuals (p < 0.05). In addition, in adults, there was an association between bruxism and MMP9 (rs13925, p = 0.0001) and bruxi...
Objective. To evaluate if nutritional status is associated with caries and gingivitis in Brazilia... more Objective. To evaluate if nutritional status is associated with caries and gingivitis in Brazilian schoolchildren. Material and methods. Children of both genders, age ranging from 8 to 11 years old, were included in this study. Caries was diagnosed using ICDAS (International System for Detection and Assessment of Carious Lesions) and gingivitis was diagnosed using the Community Periodontal Index. The nutritional status of each child was defined by BMI Z-score calculation. Data on oral health behavior and dietary habit were collected through parent’s questionnaires. Parametric analyzes were performed to compare the groups. The established alpha was 5%. Results. The sample consisted of 353 schoolchildren: 16 underweight children, 247 eutrophic children, 64 overweight children, and 26 were obese children. Overweight, Obese and Overweight + Obese children presented less cavitated caries lesion than Eutrophic children ( P < .05). Gingivitis was not associated with nutritional status (...
The present study aimed to investigate the association between nutritional status with delayed to... more The present study aimed to investigate the association between nutritional status with delayed tooth eruption (DTE). Oral examination was performed in schoolchildren (8-11 years old), and DTE was defined by absence of dental gingival emergence or when primary tooth was still present in the oral cavity after the expected time. BMI z-score of each child were collected and nutritional status was defined. Chi-square test and binary logistic regression adjusted by age and gender were performed. Odds ratio (OR) and 95% Confidence Interval (95% CI) were calculated. The established alpha was 5%. Among 353 included children, 247 were classified as eutrophic, 16 as underweight, 64 as overweight, and 26 as obese. Underweight was associated as a risk factor to DTE ( P = .014; OR = 3.5; 95% CI = 1.3-9.8), and underweight girls had more chance to present DTE than eutrophic girls ( P = .048; OR = 4.4; 95% CI = 1.1-17.2) in chi square test. In logistic regression, underweight was associated as a ri...
Tooth and palate development share several molecules during their formation, which could explain ... more Tooth and palate development share several molecules during their formation, which could explain some recent studies suggesting that tooth agenesis is associated with palatine rugae pattern. Therefore, the purpose of the se cross sectional study was to investigate the association between palatine rugae phenotypes and tooth agenesis in Brazilian patients. After applying inclusion and exclusion criteria 83 records from orthodontic patients were evaluated. Tooth agenesis cases were diagnosed by evaluation of panoramic radiographs and by anamnesis. The casts and intraoral occlusal photography of each patient were used to evaluated the palatine rugae according to length, shape, direction and unification. All analyses were performed by the same calibrated examiner. All tests were performed with an established alpha of 0.05 (P ≤ .05). Odds ratio calculations and chi-square or Fisher exact tests were used in the statistical analysis. A total of 17 (20.7%) patients with tooth agenesis was ...
This study investigated, if genetic variants in BMP2, BMP4 and SMAD6 are associated with variatio... more 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...
Homeostasis between salivary calcium and phosphorus is important for maintaining oral health. The... more Homeostasis between salivary calcium and phosphorus is important for maintaining oral health. The aim of this study was to evaluate if polymorphisms in ESR1 (Estrogen Receptor Alpha), ESR2 (Estrogen Receptor Beta) and miRNA17 (microRNA17) are associated with calcium and phosphorus levels in saliva. Saliva from 276 12-year-old children were collected by masticatory stimulation and calcium and phosphorus levels were determined by Mass Spectrometry. Genomic DNA was extracted from remaining saliva and genetic polymorphisms in ESR1 (rs12154178, rs1884051, rs9340799 and rs2234693), in ESR2 (rs4986938 and rs1256049) and in miRNA17 (rs4284505) were genotyped using TaqMan chemistry and a real-time PCR equipment. Statistical differences in genotype and allele distributions between ‘low’ and ‘high’ calcium and phosphorus levels were determined using chi-square or Fisher´s exact tests. The analysis was also adjusted by sex (alpha of 5%). ESR1 rs9340799 had the less common genotype associated wi...
Bone development and growth is a non-going, life-long process, varying greatly among individuals ... more Bone development and growth is a non-going, life-long process, varying greatly among individuals and much of this variation could be modulated by genetic factors. The purpose of this study was to evaluate the association between the polymorphisms in the TNF-a gene and skeletal class II malocclusion. Single nucleotide polymorphisms in TNF-a (rs1799724; rs1800629) gene were studied in 79 skeletal class II malocclusion and 102 skeletal class I malocclusion subjects from Straight Wire Group of Studies on Orthodontics and Functional Orthopedics for Maxillary from Rio de Janeiro, Brazil. The Genotyping of these selected polymorphisms was carried out by TaqMan real-time PCR using genomic DNA extracted from buccal cells. All allele and genotype frequencies were compared between the groups using the PLINK® software in a free, in a dominant and in a recessive model using a chi-square test (p≤0.05). There was no significant association of TNF-a (rs1799724; rs1800629) genotype and allele distri...
Introduction: Skeletal abnormalities and malocclusions have varied features that impact populatio... more Introduction: Skeletal abnormalities and malocclusions have varied features that impact populations globally, impairing aesthetics and lowering life quality. The prevalence of the Skeletal Class III disease is the lowest among all angle malocclusions, with varied prevalence across nations. Environmental, genetic, and societal factors play a role in its numerous etiologies. In this study, we conducted a thorough search across the published data relating to quantitative trait loci (QTL) and the genes associated with Class III progression in humans, discussed these findings and their limitations, and proposed future directions and strategies for studying this phenotype. Methods: An inclusive search of published papers in the PubMed and Google Scholar search engines using the following terms: 1. Human skeletal Class III; 2. Genetics of Human skeletal Class III; 3. QTL mapping and gene associated with human skeletal Class III; 4. enriched skeletal Class-III-malocclusion-associated pathwa...
The study aimed to explore the influence of genetic polymorphisms in ANKK1 and DRD2 on the signs ... more The study aimed to explore the influence of genetic polymorphisms in ANKK1 and DRD2 on the signs and symptoms of temporomandibular disorder (TMD) in construction workers. This cross-sectional study included only male subjects. All construction workers were healthy and over 18 years age. Illiterate workers and functionally illiterate workers were excluded. The diagnosis of TMD was established according to the Research Diagnostic Criteria for TMD (RDC/TMD). Genomic DNA was used to evaluate the genetic polymorphisms ANKK1 (rs1800497) and DRD2 (rs6275; rs6276) using Real-Time PCR. Chi-square or Fisher exact tests were used to evaluate genotypes and allele distribution among the studied phenotypes. The established alpha of this study was 5%. The sample included a total of 115 patients. The age of the patients ranged from 19 to 70 years (mean age 38.2; standard deviation 11.7). Chronic pain (87.7%), disc displacement (38.2%), and joint inflammation (26.9%) were the most frequently observe...
Genetic polymorphisms could explain the inter-individual differences in the oral health-related q... more Genetic polymorphisms could explain the inter-individual differences in the oral health-related quality of life (OHRQoL) of children with anterior open bite (AOB). Objective: To assess the impact of AOB on OHRQoL in children and to evaluate whether MTR (rs1805087), MTRR (rs1801394), TGFβ1 (rs1800469) and TNF-α (rs1799964, rs1799724 and rs1800629) genes are potential biomarkers for OHRQoL in children with AOB. Study design: A cross-sectional study was performed with 173 children aged between 2–6 years. The Brazilian version of Early Childhood Oral Health Impact Scale (ECOHIS) was applied. Genetic polymorphisms were analyzed using real-time PCR. Mann-Whitney U-test and Chi-square were used. Results: The overall mean ECOHIS scores were 5.49 (SD= 5.72) and 3.45 (SD = 4.49) (p < 0.01) in the AOB and control groups, respectively. Children with the CC genotype of TNF-α (rs1799724) had a significantly higher psychological QoL level. The MTRR AA genotype group showed a lower QoL level in ...
Bruxism is a masticatory muscle activity characterized by grinding of the teeth and clenching of ... more Bruxism is a masticatory muscle activity characterized by grinding of the teeth and clenching of the jaw that causes tooth wear and breakage, temporomandibular joint disorders, muscle pain, and headache. Bruxism occurs in both adults and children. Clinical characteristics and habits were evaluated in an adult sample. Moreover, we used DNA samples from 349 adults and 151 children to determine the presence of association with specific genes. Genomic DNA was obtained from saliva. The markers rs2241145 and rs243832 (metalloproteinase 2 (MMP2)), rs13925 and rs2236416 (metalloproteinase 9 (MMP9)), and rs6269 (cathecol-o-methyltransferase (COMT)) were genotyped. Data were submitted to statistical analysis with a significance level of 0.05. In adults, in univariate logistic regression, presence of caries, attrition, and use of alcohol were increased in bruxism individuals (p < 0.05). In addition, in adults, there was an association between bruxism and MMP9 (rs13925, p = 0.0001) and bruxi...
Objective. To evaluate if nutritional status is associated with caries and gingivitis in Brazilia... more Objective. To evaluate if nutritional status is associated with caries and gingivitis in Brazilian schoolchildren. Material and methods. Children of both genders, age ranging from 8 to 11 years old, were included in this study. Caries was diagnosed using ICDAS (International System for Detection and Assessment of Carious Lesions) and gingivitis was diagnosed using the Community Periodontal Index. The nutritional status of each child was defined by BMI Z-score calculation. Data on oral health behavior and dietary habit were collected through parent’s questionnaires. Parametric analyzes were performed to compare the groups. The established alpha was 5%. Results. The sample consisted of 353 schoolchildren: 16 underweight children, 247 eutrophic children, 64 overweight children, and 26 were obese children. Overweight, Obese and Overweight + Obese children presented less cavitated caries lesion than Eutrophic children ( P < .05). Gingivitis was not associated with nutritional status (...
The present study aimed to investigate the association between nutritional status with delayed to... more The present study aimed to investigate the association between nutritional status with delayed tooth eruption (DTE). Oral examination was performed in schoolchildren (8-11 years old), and DTE was defined by absence of dental gingival emergence or when primary tooth was still present in the oral cavity after the expected time. BMI z-score of each child were collected and nutritional status was defined. Chi-square test and binary logistic regression adjusted by age and gender were performed. Odds ratio (OR) and 95% Confidence Interval (95% CI) were calculated. The established alpha was 5%. Among 353 included children, 247 were classified as eutrophic, 16 as underweight, 64 as overweight, and 26 as obese. Underweight was associated as a risk factor to DTE ( P = .014; OR = 3.5; 95% CI = 1.3-9.8), and underweight girls had more chance to present DTE than eutrophic girls ( P = .048; OR = 4.4; 95% CI = 1.1-17.2) in chi square test. In logistic regression, underweight was associated as a ri...
Tooth and palate development share several molecules during their formation, which could explain ... more Tooth and palate development share several molecules during their formation, which could explain some recent studies suggesting that tooth agenesis is associated with palatine rugae pattern. Therefore, the purpose of the se cross sectional study was to investigate the association between palatine rugae phenotypes and tooth agenesis in Brazilian patients. After applying inclusion and exclusion criteria 83 records from orthodontic patients were evaluated. Tooth agenesis cases were diagnosed by evaluation of panoramic radiographs and by anamnesis. The casts and intraoral occlusal photography of each patient were used to evaluated the palatine rugae according to length, shape, direction and unification. All analyses were performed by the same calibrated examiner. All tests were performed with an established alpha of 0.05 (P ≤ .05). Odds ratio calculations and chi-square or Fisher exact tests were used in the statistical analysis. A total of 17 (20.7%) patients with tooth agenesis was ...
This study investigated, if genetic variants in BMP2, BMP4 and SMAD6 are associated with variatio... more 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...
Homeostasis between salivary calcium and phosphorus is important for maintaining oral health. The... more Homeostasis between salivary calcium and phosphorus is important for maintaining oral health. The aim of this study was to evaluate if polymorphisms in ESR1 (Estrogen Receptor Alpha), ESR2 (Estrogen Receptor Beta) and miRNA17 (microRNA17) are associated with calcium and phosphorus levels in saliva. Saliva from 276 12-year-old children were collected by masticatory stimulation and calcium and phosphorus levels were determined by Mass Spectrometry. Genomic DNA was extracted from remaining saliva and genetic polymorphisms in ESR1 (rs12154178, rs1884051, rs9340799 and rs2234693), in ESR2 (rs4986938 and rs1256049) and in miRNA17 (rs4284505) were genotyped using TaqMan chemistry and a real-time PCR equipment. Statistical differences in genotype and allele distributions between ‘low’ and ‘high’ calcium and phosphorus levels were determined using chi-square or Fisher´s exact tests. The analysis was also adjusted by sex (alpha of 5%). ESR1 rs9340799 had the less common genotype associated wi...
Bone development and growth is a non-going, life-long process, varying greatly among individuals ... more Bone development and growth is a non-going, life-long process, varying greatly among individuals and much of this variation could be modulated by genetic factors. The purpose of this study was to evaluate the association between the polymorphisms in the TNF-a gene and skeletal class II malocclusion. Single nucleotide polymorphisms in TNF-a (rs1799724; rs1800629) gene were studied in 79 skeletal class II malocclusion and 102 skeletal class I malocclusion subjects from Straight Wire Group of Studies on Orthodontics and Functional Orthopedics for Maxillary from Rio de Janeiro, Brazil. The Genotyping of these selected polymorphisms was carried out by TaqMan real-time PCR using genomic DNA extracted from buccal cells. All allele and genotype frequencies were compared between the groups using the PLINK® software in a free, in a dominant and in a recessive model using a chi-square test (p≤0.05). There was no significant association of TNF-a (rs1799724; rs1800629) genotype and allele distri...
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Papers by Erika Küchler