OBJECTIVES: Dental caries is a widespread multifactorial disease, caused by the demineralization of hard dental tissues. Susceptibility to dental caries is partially genetically conditioned; this study was aimed at finding an association of selected single nucleotide polymorphisms (SNPs) in genes encoding proteins involved in amelogenesis with this disease in children. MATERIALS AND METHODS: In this case-control study, 15 SNPs in ALOX15, AMBN, AMELX, KLK4, TFIP11, and TUFT1 genes were analyzed in 150 children with primary dentition and 611 children with permanent teeth with/without dental caries from the European Longitudinal Study of Pregnancy and Childhood (ELSPAC) cohort. RESULTS: Dental caries in primary dentition was associated with SNPs in AMELX (rs17878486) and KLK4 (rs198968, rs2242670), and dental caries in permanent dentition with SNPs in AMELX (rs17878486) and KLK4 (rs2235091, rs2242670, rs2978642), (p ≤ 0.05). No significant differences between cases and controls were observed in the allele or genotype frequencies of any of the selected SNPs in ALOX15, AMBN, TFIP11, and TUFT1 genes (p > 0.05). Some KLK4 haplotypes were associated with dental caries in permanent dentition (p ≤ 0.05). CONCLUSIONS: Based on this study, we found that although the SNPs in AMELX and KLK4 are localized in intronic regions and their functional significance has not yet been determined, they are associated with susceptibility to dental caries in children. CLINICAL RELEVANCE: AMELX and KLK4 variants could be considered in the risk assessment of dental caries, especially in permanent dentition, in the European Caucasian population.

• Klíčová slova
• Amelogenin, Dental caries, Gene polymorphism, Kallikrein 4, Tooth morphology,
• MeSH
• amelogeneze * genetika   MeSH
• amelogenin genetika   MeSH
• dítě MeSH
• lidé MeSH
• longitudinální studie MeSH
• studie případů a kontrol MeSH
• zubní kaz * genetika   epidemiologie   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• amelogenin MeSH

Severe Early Childhood Caries (sECC) is a multifactorial disease associated with the occurrence of specific oral microorganisms and other environmental, behavioral, and genetic factors. This study aimed to construct a multivariable model including the occurrence of Candida spp. and selected behavioral factors (length of breastfeeding, serving sweet beverages and beginning of brushing child's teeth) to determine their relationships to the occurrence of sECC. In this case-control study 164 children with sECC and 147 children without dental caries were included. MALDI-TOF MS and multiplex qPCR were used to identify Candida spp. and selected bacteria in dental plaque samples, respectively. A questionnaire on oral hygiene, diet, and children's health was filled in by the parents. The constructed multivariable logistic regression model showed an independent influence of the microbial and behavioral factors in sECC etiopathogenesis. The occurrence of C. albicans and C. dubliniensis was associated with higher odds of sECC development (odds ratio, OR: 9.62 and 16.93, respectively), together with breastfeeding of 6 months or less (OR: 2.71), exposure to sweet beverages (OR: 3.77), and starting to brush child's teeth after the 12th month of age (OR: 4.10), all statistically significant (p < 0.01). Considering the high occurrence of C. albicans and C. dubliniensis in dental plaque in children with sECC, we propose them as "keystone pathogens" and risk factors for sECC. The models showed that presence of specific species of Candida in dental plaque may be a better descriptor of sECC than the mentioned behavioral factors.

• Klíčová slova
• Candida dubliniensis, Candida sp., Streptococcus mutans, breastfeeding, brushing of teeth, severe early childhood caries (sECC), sweet beverages,
• MeSH
• Candida albicans MeSH
• Candida MeSH
• dítě MeSH
• lidé MeSH
• náchylnost k zubnímu kazu MeSH
• předškolní dítě MeSH
• Streptococcus mutans MeSH
• studie případů a kontrol MeSH
• zubní kaz * MeSH
• zubní plak * MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• předškolní dítě MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

BACKGROUND: Recurrent aphthous stomatitis (RAS) is multifactorial disease with unclear etiopathogenesis. The aim of this study was to determine distribution of the angiotensin I converting enzyme (ACE) gene polymorphisms and their influence on RAS susceptibility in Czech population. METHODS: The study included 230 subjects (143 healthy controls and 87 patients with RAS) with anamnestic, clinical and laboratory data. Five ACE gene polymorphisms (rs4291/rs4305/rs4311/rs4331/rs1799752 = ACE I/D) were determined by TaqMan technique. RESULTS: The allele and genotype distributions of the studied ACE I/D polymorphisms were not significantly different between subjects with/without RAS (Pcorr > 0.05). However, carriers of II genotype were less frequent in the RAS group (OR = 0.48, 95% CI = 0.21-1.12, P = 0.059). Stratified analysis by sex demonstrated lower frequency of II genotype in women (OR = 0.33, 95% CI = 0.09-1.17, P < 0.035, Pcorr > 0.05, respectively) than in men with RAS (P > 0.05). Moreover, the frequency of AGTGD haplotype was significantly increased in RAS patients (OR = 13.74, 95% CI = 1.70-110.79, P = 0.0012, Pcorr < 0.05). In subanalysis, TGD haplotype was significantly more frequent in RAS patients (P < 0.00001) and CGI haplotype was less frequent in RAS patients (P < 0.01), especially in women (P = 0.016, Pcorr > 0.05). CONCLUSIONS: Our study indicates that while the AGTGD and TGD haplotypes are associated with increased risk of RAS development, CGI haplotype might be one of protective factors against RAS susceptibility in Czech population.

• Klíčová slova
• Angiotensin I converting enzyme, Haplotype, Polymorphism, Recurrent aphthous stomatitis, Sex difference,
• MeSH
• aftózní stomatitida * epidemiologie   genetika   MeSH
• angiotensin konvertující enzym * genetika   MeSH
• frekvence genu MeSH
• genetická predispozice k nemoci MeSH
• lidé MeSH
• polymorfismus genetický MeSH
• studie případů a kontrol MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH
• Názvy látek
• ACE protein, human MeSH Prohlížeč
• angiotensin konvertující enzym * MeSH

BACKGROUND: Matrix metalloproteinases (MMPs) play an important role in tooth formation and the mineralization of dental tissue. The aim of the study was to analyse Czech children with primary/permanent dentition polymorphisms in those genes encoding MMP2, MMP3, MMP9, MMP13, MMP16, and MMP20, which had been previously associated with dental caries in other populations. METHODS: In total, 782 Czech children were included in this case-control study. DNA samples were taken from 474 subjects with dental caries (with decayed/missing/filled teeth, DMFT ≥ 1) and 155 caries free children (DMFT = 0) aged 13-15 years, as well as 101 preschool children with early childhood caries (ECC, dmft ≥ 1) and 52 caries free children (dmft = 0), were analyzed for nine MMPs single nucleotide polymorphisms (SNPs) using real time polymerase chain reaction TaqMan assays. RESULTS: There were no significant differences in the allele and/or genotype frequencies of all the studied MMPs SNPs among children with dental caries in primary/permanent dentition and the healthy controls (P > 0.05). In addition, similar allele or genotype frequencies of the studied MMPs SNPs were found in children with severe dental caries in their permanent teeth (children with DMFT ≥ 6) and the healthy controls (DMFT = 0, P > 0.05). CONCLUSIONS: This study demonstrated the lack of association between the selected SNPs in candidate genes of MMPs and the susceptibility to or severity of dental caries in both primary and permanent dentitions in Czech children.

• Klíčová slova
• Association study, Caries, ELSPAC, Genetic predisposition, Oral disease, Polymorphism,
• MeSH
• alely MeSH
• dentice trvalá MeSH
• dítě MeSH
• DMF Index MeSH
• lidé MeSH
• mladiství MeSH
• předškolní dítě MeSH
• studie případů a kontrol MeSH
• zubní kaz * epidemiologie   genetika   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• předškolní dítě MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH

OBJECTIVES: The enamelin gene (ENAM) polymorphism (rs12640848) was recently associated with dental caries in primary teeth in Polish children. The aims of the present study were to prove this association in primary dentition and to find a possible effect of this variant on caries development in permanent dentition in Czech children. MATERIALS AND METHODS: This study comprised 905 Czech children. Totally, 187 children aged 2-6 years with primary dentition [78 healthy subjects (with decayed/missing/filled teeth, dmft = 0) and 109 patients with early childhood caries (ECC; dmft ≥ 1)] were included in this case-control study. In addition, 177 subjects aged 13-15 years without caries (DMFT = 0) and 541 children with dental caries (DMFT ≥ 1) in permanent dentition were selected from the ELSPAC study. Genotype determination of the ENAM polymorphism (rs12640848) was based on the TaqMan method. RESULTS: No significant differences in the allele or genotype frequencies between the caries-free children and those affected by dental caries were observed in both primary and permanent dentitions. CONCLUSIONS: Lack of association between the ENAM polymorphism (rs12640848) and dental caries in Czech children was detected. CLINICAL RELEVANCE: Although ENAM is considered as a candidate gene for dental caries, the presence of the ENAM variant (rs12640848) cannot be used as a risk factor of this multifactorial disease in the Czech population.

• Klíčová slova
• Case-control study, Dental caries, Enamelin, Gene polymorphism, Permanent dentition, Primary dentition,
• MeSH
• dentice trvalá MeSH
• dítě MeSH
• DMF Index MeSH
• extracelulární matrix - proteiny genetika   MeSH
• genotyp MeSH
• jednonukleotidový polymorfismus * MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• předškolní dítě MeSH
• zubní kaz epidemiologie   genetika   MeSH
• zuby mléčné MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH
• Názvy látek
• ENAM protein, human MeSH Prohlížeč
• extracelulární matrix - proteiny MeSH