Polymorphisms in DSSP (rs36094464) and RUNX2 (rs566712) genes contribute to the susceptibility of dental caries in childhood / Los polimorfismos en los genes DSSP (rs36094464) y RUNX2 (rs566712) contribuyen a la susceptibilidad de la caries dental en la infancia

SUMMARY: Dental caries corresponds to an ecological and non-contagious, dynamic and chronic disease of multifactorial origin; currently there is evidence of how genetic factors could be included as predisposing agents to suffer it, however this evidence is diverse and incipient. a cross-sectional study was p erformed to investigate the possible associations of DSPP (rs36094464), RUNX2 (rs566712) and KLK4 (rs198968) polymorphisms in early childhood caries. Saliva samples of children (2-11years old) were collected and genotyped for DSPP (rs36094464), RUNX2 (rs566712) and KLK4 (rs198968) polymorphisms. Through the ceft index their caries history was determined and the gene variants were students through molecular biology techniques. polymorphisms of the DSSP (rs36094464) and RUNX2 (rs566712) are associated and contribute to the susceptibility of dental caries disease in early childhood, as they are related to their history of caries. KLK4 (rs198968) polymorphisms are not associated. In conclusions, the studied polymorphisms on DSSP and RUNX2 genes are associated with changes in the tooth microarchitecture, favoring the appearance of microlesions that would contribute to dental caries disease susceptibility in early childhood. Also, no association was found for the studied polymorphism of the KLK4 gene with dental caries disease susceptibility.

RESUMEN: La caries dental corresponde a una enfermedad crónica, no contagiosa, dinámica y de origen multifactorial. Actualmente existe evidencia de cómo los factores genéticos podrían incluirse como agentes predisponentes, sin embargo, esta evidencia es diversa e incipiente. Se realizó un estudio transversal para investigar las posibles asociaciones entre los polimorfismos DSPP (rs36094464), RUNX2 (rs566712) y KLK4 (rs198968) y la caries en la infancia. Se colectaron muestras de saliva de niños (de 2 a 11 años de edad) y se genotipificaron para los polimorfismos DSPP (rs36094464), RUNX2 (rs566712) y KLK4 (rs198968). Mediante el índice ceft se determinó su historial de caries y se estudiaron las variantes genéticas mediante técnicas de biología molecular. Los datos obtenidos indican que los polimorfismos del DSSP (rs36094464) y RUNX2 (rs566712) están asociados y contribuyen a la susceptibilidad de la enfermedad de caries dental en la infancia, ya que están - además - relacionados con el historial de caries. En conclusión, los polimorfismos estudiados en los genes DSSP y RUNX2 se asocian a la aparición de microlesiones que contribuirían a la susceptibilidad a la enfermedad de caries dental en la infancia. Creemos que este estudio es importante para la odontopediatría porque destaca el papel de DSSP (rs36094464) y RUNX2 (rs566712) y la susceptibilidad a la caries dental durante la infancia, además resalta la utilidad de la evaluación genética para la predicción y prevención de la caries dental y porque aporta evidencia que indica que los factores genéticos están implicados en la etiología de la caries.

Association of taste receptor gene polymorphisms with dental caries

Abstract This study was performed to evaluate the interplay between dental caries, nutritional status, and genetic polymorphisms in TAS1R1 and TAS1R2 (taste receptor, type 1, member 1 and 2) in preschool children and pre-adolescents. We included 525 subjects (306 preschool children and 219 pre-adolescents). Parents/caregivers answered a self-administered questionnaire about their children's systemic health, characteristics, oral hygiene habits, and diet. Clinical examination was performed to evaluate dental caries and nutritional status. Saliva samples were collected for DNA extraction. The genotyping of rs17492553 ( TAS1R1 ), rs3935570, and rs4920566 ( TAS1R2 ) polymorphisms was performed using real-time PCR with Taqman Genotyping Master Mix and SNP assay. Both univariate and multivariate Poisson regression analyses with robust variance were used for the data analysis. In preschool children, consumption of sweets between meals increased the prevalence of dental caries by 85% (PR c = 1.85; 95%CI 1.39-2.46; p < 0.001), whereas in pre-adolescents, this prevalence increased by 34% (PR a = 1.34; 95%CI 1.11-1.62; p = 0.002), regardless of genetic polymorphisms . Moreover, individuals carrying at least one allele C in rs17492553 presented 23% more prevalence of dental caries (PR a = 1.23; 95%CI 1.02-1.49 p = 0.030). Nutritional status was not associated with dental caries, neither with genetic polymorphisms . Consumption of sweets between meals increased the prevalence of dental caries. In pre-adolescents, rs17492553 genetic polymorphism in TAS1R1 was associated with dental caries.

Salivary protein polymorphisms and risk of dental caries: a systematic review

Abstract Dental caries is an oral pathology associated with both lifestyle and genetic factors. The caries process can be influenced by salivary composition, which includes ions and proteins. Studies have described associations between salivary protein polymorphisms and dental caries experience, while others have shown no association with salivary proteins genetic variability. The aim of this study is to assess the influence of salivary protein polymorphisms on the risk of dental caries by means of a systematic review of the current literature. An electronic search was performed in PubMed, Scopus, and Virtual Health Library. The following search terms were used: “dental caries susceptibility,” “dental caries,” “polymorphism, genetics,” “saliva,” “proteins,” and “peptides.” Related MeSH headings and free terms were included. The inclusion criteria comprised clinical investigations of subjects with and without caries. After application of these eligibility criteria, the selected articles were qualified by assessing their methodological quality. Initially, 338 articles were identified from the electronic databases after exclusion of duplicates. Exclusion criteria eliminated 322 articles, and 16 remained for evaluation. Eleven articles found a consistent association between salivary protein polymorphisms and risk of dental caries, for proteins related to antimicrobial activity (beta defensin 1 and lysozyme-like protein), pH control (carbonic anhydrase VI), and bacterial colonization/adhesion (lactotransferrin, mucin, and proline-rich protein Db). This systematic review demonstrated an association between genetic polymorphisms and risk of dental caries for most of the salivary proteins.

Palmistry: A tool for dental caries prediction.

Background: Dermatoglyphics can prove to be an extremely useful tool for preliminary investigations in conditions with a suspected genetic base. Since caries is a multifactorial disease with the influence of genetic pattern, early prediction for high-risk children can help in using effective and efficient caries preventive measures that are a part of the pedodontist arsenal. Aims and Objectives: This study was done to determine the genetic aspect involved in the occurrence of dental caries through a cost-effective means, which can be used in field studies. Materials and Methods: 550 kindergarten school children in the age group 3-6 years were examined during a school examination camp. Of these, only 336 children were included in the study. They were divided into four groups as follows: caries-free males (df score=0), caries-free females, caries males (df score≥10), caries females. The handprints of each child were taken and the frequency of occurrence of type of dermatoglyphic pattern on fingertip of each digit was noted. Separate df scores were recorded. SPSS software and test of proportions were used for the analysis. Results and Conclusion: Handprints of caries-free children, especially females, showed maximum ulnar loops. The caries group showed maximum occurrence of whorls (r=2:1), which were more prevalent in females on the left hand 3rd digit than in males where the whorls were found on the right hand 3 rd digit, and also low total ridge count, especially in males.

Analysis of the association between lactotransferrin (LTF) gene polymorphism and dental caries

OBJECTIVE: The present study evaluated the association between lactotransferrin (LTF) gene polymorphism (exon 2, A/G, Lys/Arg) and dental caries. MATERIAL AND METHODS: A convenience sample of 110 individuals, 12 years old, was divided into: group 1, 48 individuals without caries experience (DMFT=0), and group 2, 62 subjects with caries experience (DMFT>1). DNA was obtained from a mouthwash with 3 percent glucose solution, followed by a scrapping of the oral mucosa. After DNA purification, polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP) was performed to access the study polymorphism. The LTF A/G (Lys/Arg) polymorphism had been previously reported as located in exon 1. RESULTS: Allele 1 of the study polymorphism was associated with low DMFT index and showed a protective effect against caries experience (OR=0.16, IC=0.03-0.76, p=0.01). CONCLUSIONS: Lactotransferrin A/G (exon 2, Lys/Arg) polymorphism was associated with susceptibility to dental caries in 12-year-old students.

Comparison of allele frequency for HLA-DR and HLA-DQ between patients with ECC and caries-free children.

BACKGROUND: Early childhood caries (ECC) is one of the most common diseases of childhood. The etiology of ECC is multifactorial and both genetic and environmental factors play important roles in the pathogenesis of the disease. Genetic variations in the hosts may contribute to changes in the risk for dental caries. Genetic factors such as human leukocyte antigen (HLA) have recently been suggested as a predisposing factor. AIM: The aim of this study was to look for an association between HLA-DRB1 and HLA-DQB1 with ECC for developing new strategies for the diagnosis as well as the prevention of the disease. DESIGN: In this study, we extracted the genomic DNAs from whole blood samples of 44 patients with ECC and 35 caries-free children by the salting-out method. We amplified the genomic DNA by PCR-SSP and then HLA-typing was performed for all alleles. RESULTS: The results revealed a significant increase in the frequency of HLA-DRB1*04 in the patient group (P=0.019). The odds ratio for this allele was detected to be 10. The frequency of HLA-DQB1 alleles was not significantly different between the two groups. CONCLUSION: The above results suggest that HLA-DRB1*04 is associated with the susceptibility to ECC. Thus HLA-DRB1*04 detection as a molecular marker for early diagnosis of ECC may be recommended.

Association of salivary proteins with dental caries in a Colombian population

La saliva tiene un importante papel en el mantenimiento de las condiciones normales de los tejidos orales. La variabilidad en la composición salival determina su característica protectoracontra la caries dental. Conocer el contenido molecular de la saliva en humanos es importante para el entendimiento de sus propiedades biológicas. El objetivo de este trabajo fue reconocer la composición proteica de la saliva completa de sujetoscon caries activa (AC), historia de caries (HC) y libres de caries (H); en una población colombiana por medio del patrón electroforético y su correlación con el diagnóstico clínico. Cientocuarenta y cinco pacientes mayores de 18 años de edad fueron clasificados en los grupos de estudio por examinación clínica, las muestras de saliva fueron recolectadas, las determinacionesde proteína total fueron hechas por el método Bradford; la saliva individual fue separada por SDS-PAGE y relacionadas con el índice COP. Los geles fueron analizados por el software Quantity One® 1-D (BIO-RAD). No se encontraron diferencias estadísticamente significativas entre las concentraciones de proteína total y la experiencia o no de caries dental. La cantidad de proteína total fue mayor en mujeres que en hombres (p= 0.0028); y con respecto a la enfermedad fue mayor en mujeres con HC y AC. Las proteínas salivares comunes entre los individuos fueron de 101, 77, 62, 55, 44, 22 y 13 kDa. Se encontró asociación entre la proteína salival de 17 kDa y la AC enhombres. Conclusiones: Las proteínas presentes en la muestra de saliva completa son muy similares en los tres grupos de estudio, excepto por la proteína de 17 kDa la cual puede ser unmarcador de riesgo de caries dental.

A Case of Shwachman-Diamond Syndrome Confirmed with Genetic Analysis in a Korean Child

Shwachman-Diamond syndrome (SDS) is an autosomal recessive genetic disorder, consisting of exocrine pancreatic insufficiency, chronic neutropenia, neutrophil chemotaxis defects, metaphyseal dysostosis, short stature, dental caries, and multiple organ involvements. Although SDS is the second most common hereditary abnormality of exocrine pancreas following cystic fibrosis in the Western countries, it has rarely been reported in Asia. We diagnosed a case of SDS in a 42-month-old girl, and genetic analysis including the relatives of the patient confirmed the diagnosis for the first time in Korea. She had short stature, steatorrhea, dental caries, and recurrent prulent otitis media and pneumonias. Laboratory studies revealed cyclic neutropenia, and serum levels of trypsin, amylase, and lipase were decreased. Simple radiography revealed metaphyseal sclerotic changes at the distal femur. A CT scan demonstrated a fatty infiltration and atrophy of the pancreas. On direct sequencing analysis of Shwachman-Bodian-Diamond Syndrome gene exon 2 region, the patient was homozygous for the c.258+2T>C mutation and heterozygous for the c.183_184TA>CT mutation and c.201A>G single nucleotide polymorphism. Treatment with pancreatic enzyme replacement, multivitamin supplementation, and regular to high fat diet improved her weight gain and steatorrhea.

Genetic sensitivity to the bitter taste of 6-n propylthiouracil: a new risk determinant for dental caries in children.

The aims of the present study were to contrast the prevalence of dental caries in children with different genetic sensitivity levels to the bitter taste of 6-n-propylthiouracil (PROP) and to determine the taste quality and taste intensity preferences of food products among the taster and nontaster groups. Overall caries experience (dmfs/DMFS) was significantly higher for nontasters than tasters. Caries experience on the available surfaces (dfs/DFS) was found to be significantly higher in nontasters than in medium tasters and in medium tasters than in supertasters (r=-0.41, P < 0.001). Majority of the nontasters were sweet likers and preferred strong tasting food products, while majority of the supertasters were sweet dislikers and preferred weak tastes. There was a significant increase in the overall caries experience in the population, as the genetic ability to detect PROP taste decreased ( P < 0.001). After all associated factors (age, gender, race, number of teeth and OHI-S) were controlled; multiple linear regression analyses revealed that taste was the only variable significantly related to overall caries experience.

Inmunización contra la caries / Inmunization against caries

Hay dos grandes líneas de pensamiento sobre la etiología de la caries dental. Mientras que algunos afirman que se debe a un desequilibrio de la microflora bucal normal, como consecuencia de un alto consumo de carbohidratos, la mayoría de los investigadores dentales coincide en que la caries es una enfermedad infecciosa y transmisible. El Streptococus mutans (caries) coloniza la cavidad bucal del ser humano sólo después de la erupción dentaria, pues para crecer requieren de superficies duras. Su identificación por la tipificación de sus bacteriocinas y plásmidos señala que en el ser humano, la madre es el reservorio primario de la infección y el contagio ocurre si su saliva, o la de otro individuo con caries, llega a la boca del infante. Existen dos estrategias globales para el desarrollo de vacunas contra la caries. Dos grupos de investigadores británicos exploran la inmunización por vía subcutánea, mientras que las vacunas administrables por vía entérica están bajo estudio en cuatro laboratorios de los Estados Unidos, además grupos suecos, franceses y japoneses participan en la búsqueda de una vacuna eficaz; se anotan los avances en cuanto a la inmunización parenteral, inmunización gingival, inmunización pasiva local, vacunas entéricas y presentación de antígenos como partículas y uso de adyuvantes

Familial caries distribution in human permanent teeth: buccal and lingual pits of first molars

Se examinaron 28 familias compuestas de padres, madres, hijos e hijas y abuelos y/o abuelas, tanto del lado materno como paterno. La distribución fue determinada por las experiencias de caries en una o ambas fosas bucales y linguales de los cuatro primeros molares permanentes de cada muestra. Se estudió la relación entre distribución de caries en los mismos sitios en hijos, padres y abuelos. El radio de frecuencia de ocurrencia de experiencia CO en los mismos sitios entre los grupos en estudio fue 1:1.11. La actividad cariogénica en la superficie bucal fue más predominante, com un radio bucal/lingual de 1:1.60. El porcentaje de repetición de ocurrencia de actividad cariogénica en los mismos sitios (65.52%) parece indicar la presencia de un factor hereditario predominante en la distribución de estos sitios de ocurrencia. De acuerdo a los patrones hereditarios mendelinos, casi todas las familias muestran un medio de transmisión "dominante autosómico"