Genetic variation in the promoter region of beta-defensin 1 (DEFB 1) is associated with high caries experience in children born with cleft lip and palate

Objective. Caries is a common disease in humans and has a multifactorial etiology. It has been suggested that children born with cleft lip and/or palate (CL/P) have a higher susceptibility to caries, but data from several independent cohorts does not support this assumption. Previous work from our group suggested DEFB 1 is associated with higher caries experience. Since it is suspected that children born with CL/P have the same risk factors predisposing them to caries as other children of the same ages, the aim was to test if DEFB 1 was associated with caries experience in children born with CL/P. Materials and methods. Sixty-nine children born with CL/P (aged 2–12 years) were included. Twenty-seven males and seven females had cleft lip and palate (CLP), six males and seven females had cleft lip (CL) and 13 males and nine females had cleft palate (CP). Caries was evaluated with the DMFT/dmft index by a calibrated evaluator. Two single nucleotide polymorphisms in DEFB 1 were selected (rs11362 and rs1800972) based on being associated with higher caries experience in previous work. Genotyping were carried out by real-time PCR using the Taqman assay method. The statistical analysis was performed between ‘low-to-moderate caries experience group' and the ‘high caries experience group'. Odds ratio calculations between caries experience and variant alleles and chi-square of Fisher exact tests at a level of significance of 0.05 were used. Results. There was no significant difference for caries experience between cleft types (p = 0.551). An association was found for the marker rs11362 and genotype distribution (p = 0.047). When analyzed in a recessive model, the genotype GG in this polymorphism increased the risk for caries susceptibility by more than 3-times (p = 0.031; OR = 3.16; 95% CI = 0.97–10.62). Conclusion. The genetic variant rs11362 in DEFB 1 influences caries susceptibility in CL/P children. The results support the hypothesis that expression of DEFB 1 in saliva may serve as a biomarker for future caries risk.     

Defining predictors of cleft lip and palate risk

Individuals with clefts present considerably more dental anomalies than individuals without clefts. We also have shown that these individuals report cancer in their families more often than do unaffected individuals. We investigated how these conditions correlated with genetic variants associated with clefts to ascertain if specific molecular signatures exist that could help identify individuals at risk for having offspring with these defects. We examined 573 individuals, 158 with clefts, 254 unaffected family members, and 161 non-related controls. Several clinical features, such as laterality, the presence of dental anomalies, medical history, and pregnancy history, were used to assess each individual's cleft status. Then, we performed molecular studies with genes that have been independently associated with oral clefts. We analyzed two datasets: nuclear families and case-control individuals where the case was the child from the family and controls were unrelated non-clefted individuals. In the family data, we confirmed association between clefts and rs987525 on chromosome 8 (p = 0.007) and found an association with rs987525 and tooth agenesis (p = 0.0003). In the case-control data, clefts, supernumerary teeth and familial cancer history were associated with ABCA4-rs481931 on chromosome 1 (p = 2E-19, 0.0007, 2E-06, respectively), and clefts and microdontia were associated with rs1325474 on chromosome 6 (p = 1E-06, 0.0002, respectively).     

Maternal malnutrition, environmental exposure during pregnancy and the risk of non-syndromic orofacial clefts

Oral Diseases (2011) 17 , 584–589 Objective: To explore the risk factors of non‐syndromic orofacial clefts. Subjects and Methods: A case–control study was conducted in China, 537 infants born with non‐syndromic cleft lip with/without cleft palate, 176 infants born with cleft palate (CP), and 221 normal controls were recruited to participate in a questionnaire based study to identify risk factors related to maternal nutrition. Results: Single‐factor Chi‐square analysis identified 12 factors as significantly related to non‐syndromic orofacial clefts (P < 0.05). Multiple logistic regression showed five of these factors were associated with non‐syndromic orofacial clefts, male gender and maternal passive smoking during early pregnancy were risk factors for non‐syndromic orofacial clefts (OR = 1.86 and 11.42; 95%CI: 2.28–2.69 and 6.87–19.00, respectively), whereas maternal weight gain during pregnancy and folic acid supplementation during early pregnancy were protective (OR = 0.15 and 0.67; 95%CI: 0.034–0.63 and 0.44–1.00, respectively). Conclusions: Our data may provide references for cleft lip and CP prevention programs, and counseling programs in China.     

Functional variant of CHI3L1 gene is associated with neck metastasis in oral cancer

Objectives

Oral cancer is the most common head and neck malignancy, and it is associated with a high recurrence rate and lymph node metastasis potential. YKL-40, also known as chitinase-3-like protein 1 (CHI3L1), is a secreted glycoprotein that serves as a biomarker in several diseases. It also plays a crucial role in regulating many characteristics of cancer, such as cell growth, migration, anti-apoptosis, and angiogenesis. Accumulating evidence supports the link between single-nucleotide polymorphisms (SNPs) and oral cancer, but no report on the association between CHI3L1 polymorphisms and oral cancer is available. Thus, the present study evaluated the contribution of CHI3L1 SNPs to oral cancer susceptibility and clinicopathology.

Materials and methods

This study recruited a total of 2362 subjects, comprising 1190 healthy male controls and 1172 male patients with oral cancer. Allelic discrimination of the CHI3L1 polymorphisms − 1371 G>A (rs6691378), − 247 G>A (rs10399805), − 131 C>G (rs4950928), and + 2950 T>C (rs880633) was assessed through real-time polymerase chain reaction.

Results

We detected a significant association of rs10399805 and rs6691378 with the risk of oral cancer (AOR, 1.537; 95% CI, 1.089–2.168; p = 0.014; AOR, 1.561; 95% CI, 1.131–2.156; p = 0.007, respectively) after adjustment for three potential confounders, smoking, betel nut chewing, and alcohol consumption. Moreover, we found that oral cancer patients carrying the homozygous A/A genotype of the rs10399805 (p = 0.035) or rs6691378 polymorphism (p = 0.023) showed a significantly lower risk of lymph node metastasis. Moreover, according to the Genotype-Tissue Expression database, the rs10399805 and rs6691378 polymorphisms in the promoter region were associated with decreased levels of CHI3L1 mRNA.

Conclusions

In conclusion, we found that the homozygous mutant allele of rs10399805 and rs6691378 appeared to have significantly lower risk of lymph node metastasis and associated with its mRNA levels in oral cancer.

Clinical relevance

The CHI3L1 polymorphisms rs10399805 and rs6691378 may act as biomarkers for predicting lymph node metastasis in oral cancer patients.

     

Cleft extension and risks of other birth defects in children with isolated cleft palate

Abstract

Objective. To study the risks of having other birth defects in children born with an isolated cleft palate (iCP) when the length of the cleft was taken into account. The hypothesis was that a newborn with an extensive cleft lesion may have an increased risk of other birth defects compared to a child with a less extensive cleft of the palate. Material and methods. All Caucasian children with iCP born between 1975 and 2005 in the southwestern region of Sweden were included. Data were collected from standardized medical records and the length of the cleft was checked on the pre-surgical dental cast for each child. Results. A total of 343 children were born with an iCP. The incidence was 0.64/1000 live births. Thirty-four percent of children with either a total or partial iCP had other birth defects. The risk was 1.7 times higher for a total compared to a partial iCP. The two most common birth defects were congenital heart disease and intellectual disability. Ear problems related to infections were registered in 43% of cases. Fifteen percent of the children had the Pierre Robin sequence, which was analyzed as a separate variable and not included as a birth defect. Conclusions. The length of the iCP was found to influence the risk of having another birth defect as the total palatal clefts were more often combined with other birth defects compared to partial clefts. Careful medical check-ups are important for newborns with iCP since they have increased risks of other birth defects.     

Revisiting the metallothionein genes polymorphisms and the risk of oral squamous cell carcinoma in a Brazilian population

Background Metallothioneins (MTs) gene polymorphisms have been associated with the ability of free radical scavenging and detoxification of heavy metals leading to cancer development. Our aim was to revisit, in a Brazilian population, single-nucleotide polymorphisms (SNPs) of the MT gene family previously associated with oral squamous cell carcinoma (OSCC). Material and Methods A case-control investigation with 28 OSCC patients and 45 controls was conducted, using conventional risk factors (tobacco use and alcohol consumption) as covariates. SNPs genotyping for rs8052334 (MT1B), rs964372 (MT1B), and rs1610216 (MT2A) was performed by PCR-RFLP, and SNPs for rs11076161 (MT1A) were analyzed by TaqMan assay. Results The only SNP associated with increased risk for OSCC was the MT-1A AA genotype (OR = 4.7; p = 0.01). We have also evidenced for the first time a significant linkage disequilibrium between the SNPs of MT-2A and MT-1A in this population with the highest frequency (30%) of the unfavorable haplotype G/A/C/T (rs1610216 / rs11076161 / rs964372 / rs8052334) of MT gene polymorphisms (OR = 6.2; p = 0.04). Interestingly, after removing the effects of conventional risk factors, we have uncovered the significance of the AA genotype of the rs11076161 with increased odds of 19-fold higher towards OSCC development. Conclusions This is the first demonstration that a significant linkage disequilibrium among gene polymorphisms of the MT family may affect susceptibility to oral cancer, which is conditioned by the G/A/C/T haplotype (rs1610216/rs11076161/rs964372/ rs8052334) and the MT-1A gene polymorphism has a potential clinical utility for the OSCC risk assessment. Key words:Oral squamous cell carcinoma, polymorphism, metallothionein, oral cancer.     

A descriptive epidemiology study of cleft lip and palate in Northern Finland

Objective. The aim of this study was to determine the incidence of cleft lip and/or cleft palate in a population uniquely from Northern Finland. Materials and methods. The records of a total of 214 cleft patients treated between 1998–2011 at the Oulu Cleft Lip and Palate Center at the University of Oulu were assessed on a retrospective basis. Data regarding cleft type, sex and side of cleft was collected and analyzed. Family history of clefting was investigated. Results. Cleft palate (68.7%) was most frequently found, followed by cleft lip and palate (18.7%) and cleft lip with or without alveolus (12.6%). Cleft palate occurred more frequently in females (63.3%) and cleft lip and palate was more frequently found in males (62.5%). The left side was more frequently affected in both male and female patients. Left-sided clefts were observed in 82% of patients compared to right-sided clefts in 18%. A family history of clefting was detected in 20.1% of patients. Conclusion. The incidence of clefts in Northern Finland is higher than the corresponding incidence in other European countries. Cleft palate was the most frequent cleft type and it was more frequent in females. In males, cleft lip and palate was more frequent. The left side was more frequently affected in both genders. One fifth of the patients had a family history of clefts.     

MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate

Jagomägi T, Nikopensius T, Krjut?kov K, Tammekivi V, Viltrop T, Saag M, Metspalu A. MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate. Eur J Oral Sci 2010; 118: 213–220. © 2010 The Authors. Journal compilation©2010 Eur J Oral Sci Recent studies suggest that multiple interacting loci, with possible additional environmental factors, influence the risk for nonsyndromic oral clefts, one of the most common birth defects in humans. Advances in high‐throughput genotyping technology allow the testing of multiple markers, simultaneously, in many candidate genes. We tested for associations between 176 haplotype‐tagging single nucleotide polymorphisms (SNPs) in 18 candidate genes/loci and nonsyndromic clefts in a case–control study in an Estonian sample (153 patients, 205 controls). The most significant associations with nonsyndromic cleft lip with or without cleft palate (CL/P) were found for SNPs in MSX1, MTHFR, and PVRL2, including several common haplotypes in the MTHFR and MSX1 genes. The strongest association was observed for rs6446693 in the MSX1 region, which remained statistically significant after Bonferroni correction. The strongest association with nonsyndromic cleft palate (CP) was found for the SNP rs11624283 in the JAG2 gene. Epistatic interactions were observed for SNPs within PVRL2, between BCL3 and EDN1, and between IRF6 and MSX1 genes. This study provides further evidence implicating MSX1 and MTHFR in the etiology of nonsyndromic CL/P across different populations.     

Genetic polymorphism in RANK is associated with mandibular size

Objective: The aim of this study was to evaluate the association between genetic polymorphisms in RANK, RANKL and OPG with maxillary and mandibular dimensions in humans.

Design: DNA extracted from saliva and the rs3826620, rs9594738 and rs2073618 polymorphisms in RANK, RANKL and OPG, respectively, were analysed by real-time PCR. Four linear measurements (Co-Gn, GoPg, Co-Go and PTM–A) from lateral cephalograms were examined for the evaluation of craniofacial measurements. ANOVA testing and a multivariate linear regression analysis, adjusted for age and gender, were used for statistical analysis, with an alpha of 5%. Hardy-Weinberg equilibrium was also evaluated using the chi-square test within each polymorphism.

Setting: School of Dentistry of Ribeirão Preto, University of São Paulo.

Participants: A total of 100 unrelated non-syndromic Brazilian Caucasian subjects were included in this study.

Results: The polymorphism in RANK was associated with a higher Go-Pg measurement (p?=?.039). In the multivariate analysis, adjusted for age and gender, the polymorphism in RANK was associated with Go-Pg (p?=?.017) and Co-Gn (p?=?.043).

Conclusion: The polymorphism rs3826620 in RANK is associated with the mandibular size.     

Association of cytokines polymorphisms with chronic peridontitis and rheumatoid arthritis in a Mexican population

Objective: Historically, it has been shown that rheumatoid arthritis (RA) and periodontitis (PE) share pathophysiological similarities and possibly a genetic background. In order to elucidate the genetic background between both diseases, we evaluated the distributions of five SNPs genotypes and all the possible haplotypes composed in subjects with isolated RA, PE, combined diseases and healthy controls.

Materials and methods: The study population consisted of 280 Mexican subjects. Genomic DNA was isolated from buccal epithelial cells collected by cheek scrapings and analyzed for the determination of the following SNPs: IL-1α?+?4845 (rs17561), IL-1α ?889 (rs1800587), IL-1β?+?3954 (rs1143634), IL-1β ?511(rs16944) and TNF-α ?308 (rs1800629).

Results: After adjustment for age, sex and smoking status, multiple logistic regression analysis revealed a no significant association in the genotype frequencies of TNF-α ?308 and IL-1α?+?4845 SNPs. Otherwise a significant association was observed in IL-1β?+?3954 and IL-1β ?511 (p?p?=?0.054). Also, we found three negative associated haplotypes with PE: IL-1α?+?4845 G/IL-1β ?511 A, IL-1β?+?3954 C/IL-1β ?511 A and interestingly IL-1α ?889 C/IL-1β ?511 A also with a positive association with RA.

Conclusions: Some genotypes and haplotypes are associated with the diseases. But it seems that the genetic background of the association between RA and PE needs to be explored deeper.     

成纤维细胞生长因子3基因多态性与非综合征型唇腭裂的相关性研究

目的探讨成纤维细胞生长因子3（FGF3）基因rs4980700、rs4631909单核苷酸多态性（SNP）与非综合征型唇腭裂（NSOC）的相关性。方法收集186例非综合征型唇腭裂患者,患者父亲183例,母亲174例,核心家系172个;200例正常新生儿为对照组。采用聚合酶链式反应-限制性片段长度多态性（PCR-RFLP）方法检测FGF3基因rs4980700与rs4631909多态位点基因型,并进行病例对照分析,传递不平衡检验（TDT）和以家系为基础的相关性分析（FBAT）。结果病例组rs4980700多态位点基因型和等位基因频率与对照组比较存在统计学差异（P<0.05）;病例组rs4631909多态位点基因型和等位基因频率与对照组比较存在统计学差异（P<0.05）,而在腭裂组则无统计学差异（P=0.49）。传递不平衡研究发现,FGF3基因rs4980700位点的G等位基因与rs4631909位点的C等位基因在本研究人群非综合征型唇腭裂患者中存在过传递（P<0.05）。FBAT分析rs4980700、rs4631909多态位点与本研究人群非综合征型 唇腭裂存在相关性（P<0.05）。结论FGF3基因rs4980700、rs4631909多态位点与非综合征型唇腭裂存在相关性。     

Oral health and apraxia among institutionalized elderly people—A pilot study

Abstract

Objective. Poor oral hygiene and dental health are very common among the institutionalized elderly. The purpose of this study was to evaluate the association of apraxia with oral hygiene and/or health. Materials and methods. Ninety-two residents of 13 long-term care homes in southwest Germany participated in the study. For each participant, ideomotor apraxia scoring (AS) was conducted and demographic variables were collected. Participants underwent a comprehensive dental examination to assess the oral health indices gingival bleeding index (GBI), community periodontal index of treatment needs (CPITN) and denture hygiene index (DHI). Statistical comparison of dental indices among apraxic and non-apraxic individuals (cut-off < 45) was performed by use of t-tests. In addition, linear regression models were constructed with the dental indices as dependent variables. Each model was fitted with the dichotomized variable AS (pathologic or healthy) and adjusted for age and sex. Results. Mean (SD) GBI of 48.5 (25.9), CPITN of 2.9 (0.7) and DHI of 82.6 (14.6) were observed among the participants. Statistical analysis revealed AS was significantly associated with all oral health indicators (p < 0.05). Linear regression models showed apraxia is a predictor of GBI (p = 0.002) and CPITN (p = 0.027), but not of denture hygiene (p = 0.916). Conclusions. Although this pilot investigation has limitations, the results suggest the presence of apraxia should be considered when planning oral healthcare strategies. Further research with larger samples is encouraged to confirm these relationships.     

Association between BMP4 gene polymorphisms and cleft lip with or without cleft palate in a population from South China

ObjectivePrevious studies have suggested an association between several polymorphisms of the BMP4 gene and susceptibility to non-syndromic cleft lip with or without cleft palate (NSCL/P) in various populations. However, this association may vary according to ethnic group and the form of NSCL/P. This study analyzed the association between the BMP4 gene polymorphisms rs762642, rs17563, and rs10130587 with the risk of cleft lip only (CLO), cleft palate only (CPO), and cleft lip with palate (CLP) in a population from South China.MethodsThis case-control study included 165 patients with NSCL/P (53 patients with CPO, 52 with CLO, and 60 with CLP) and 52 healthy volunteers. Peripheral blood samples were collected from all subjects to genotype the rs762642, rs17563, and rs10130587 polymorphisms by direct sequencing. Genotype and allelic frequencies of these polymorphisms were compared between healthy volunteers and patients with various forms of NSCL/P.ResultsThe genotype and allelic frequencies of rs762642 differed significantly between subgroups (CPO and CLP) and normal controls, whereas a significant difference was observed only in the CLO subgroup for the rs17563 polymorphism and in the CLO and CLP groups for the rs10130587 polymorphism. In addition, we identified a novel association of a BMP4 gene polymorphism, which was in linkage disequilibrium with the rs10130587 polymorphism, with CLO and CLP.ConclusionThe BMP4 gene polymorphisms rs762642, rs17563, and rs10130587 exhibit different associations with different forms of NSCL/P, suggesting that different forms of NSCL/P may have different etiologies.     

Trend of hospitalized cases of oral cancer in Brazil and its relationship with oral health coverage in public health system between 2009 and 2017

Background This study aimed to analyze the trend in the number of hospitalized cases of oral cancer in Brazil, according to the coverage of oral health services in public health system, and also investigate the influence of healthcare and clinical characteristics on the severity of oral cancer cases. Material and Methods This retrospective study considered the period between 2009 and 2017. Data from the Hospital Registry of Cancer from the National Cancer Institute were used, considering the primary locations C00 to C06. Detailed information including sex, age, alcohol and tobacco use, year of first consultation, and the clinical stage of the cases were also collected. The frequency of hospitalized cases was correlated with the coverage of Primary Care Oral Health Teams (ESB) and the number of Dental Specialty Centers (CEO). It was also estimated the chance of advanced oral cancer cases, according to healthcare and clinical characteristics. Data were analyzed using Tweedie''s multiple regression and multiple binary logistic regression (α<0.05). Results There was an increasing trend in the number of hospitalized cases of oral cancer in Brazil between 2009 and 2017 (B=0.043, p<0.001, PR=1.044). The increase in ESB coverage was associated with small increase in the number of hospitalized cases of oral cancer (B=0.001, p=0.003, PR=1.001). The increase in the number of CEO was associated with decrease in the number of hospitalized cases of oral cancer (B=-0.085, p<0.001, PR =0.918). The increase of ESB (OR=0.998) and CEO (OR=0.974) contributed for reducing the number of stage IV cases, whilst the history of alcohol and tobacco use (OR=1.574) was associated with an increase in the number of stage IV cases. Conclusions Although an increasing trend was detected, the expansion of the public health system reduced the number of hospitalized cases and the frequency of advanced oral cancer cases in Brazil. Key words:Mouth neoplasms, squamous cell carcinoma, oral diagnosis.     

Group home caregivers' comfort levels regarding physical resistance during oral hygiene care

The purpose of this study was to investigate perceived comfort levels, behaviors, and barriers reported by group home caregivers who provide oral hygiene measures to consumers with special health care needs (SHCN) who physically resist the care. A 24‐item survey was sent to 884 caregivers employed at six care facilities in Iowa. Bivariate analyses and logistic regression models were used to analyze the data (alpha = 0.05). The overall response rate was 52%. An analysis of the data indicated that caregivers who felt more comfortable providing oral hygiene for consumers who physically resisted the care experienced a higher frequency of consumers not opening their mouths (p = 0.0003), pushing the caregiver away (p = 0.0002), moving their heads uncontrollably (p = 0.0004), spitting at (p = 0.0099), hitting and/or kicking the caregiver (p = 0.0011). Furthermore, these caregivers provided weekly direct care for a greater number of consumers (p = 0.0044), received oral care training from their current facility (p = 0.0424), brushed the teeth of uncooperative consumers at least 75% of the time (p < 0.0001), and felt “somewhat comfortable to very comfortable” flossing their teeth (p < 0.0001). The caregivers’ comfort level in providing oral hygiene measures to those consumers with SHCN who physically resist the care appears to be significantly associated with their training and experience working with this population.     

Association of ENAM gene single nucleotide polymorphisms with dental caries in Polish children

Objectives

The objective of this study was to prove the association between dental caries and single nucleotide polymorphisms (SNPs) in the ENAM gene.

Material and methods

The research was carried out in 96 children (48 with caries and 48 counterparts free of this disease), aged 20–42 months, with 11–20 erupted teeth. All children were from four day nurseries located in Poznan. The study included the dental examination to select individuals to the research and oral swab collection for molecular evaluation. Seven selected SNPs markers of the ENAM gene were genotyped, five using TaqMan probe assay (rs2609428, rs7671281, rs36064169, rs3796704, and rs12640848) and two by Sanger sequencing (rs144929717 and rs139228330).

Results

Statistically significant higher prevalence of the alternative G allele and the alternative GG homozygote in the control group in comparison with the caries group in SNP rs12640848 was observed, respectively, p = 0.0062 and 0.0010. Although the prevalence of the AG heterozygote was higher for the caries subjects in comparison with controls (OR = 2.9), and the result was statistically significant (p = 0.0010), the overall prevalence of the G allele for this SNP was significantly higher in control group (OR = 2.3; p = 0.0062).

Conclusions

The study revealed the strong association between rs12640848 marker of ENAM gene and caries susceptibility in primary teeth in children from Poznan.

Clinical relevance

The presence of SNPs in the ENAM gene may be important as suspected predictive factor of dental caries occurrence in children.

     

Caregivers' oral health literacy and their young children's oral health-related quality-of-life

Abstract

Objectives: To investigate the association of caregivers' oral health literacy (OHL) with their children's oral health related-quality of life (C-OHRQoL) and explore literacy as a modifier in the association between children's oral health status (COHS) and C-OHRQoL. Methods. This study relied upon data from structured interviews with 203 caregivers of children aged 3–5 from the Carolina Oral Health Literacy (COHL) Project. Data were collected for OHL using REALD-30, caregiver-reported COHS using the NHANES-item and C-OHRQoL using the Early Childhood Oral Health Impact Scale (ECOHIS). This study also measured oral health behaviors (OHBs) and socio-demographic characteristics and calculated overall/stratified summary estimates for OHL and C-OHRQoL. Spearman's rho and 95% confidence intervals (CI) were computed as measures of correlation of OHL and COHS with C-OHRQoL. To determine whether OHL modified the association between COHS and C-OHRQoL, this study compared literacy-specific summary and regression estimates. Results. Reported COHS was: excellent—50%, very good—28%, good—14%, fair—6%, poor—2%. The aggregate C-OHRQoL mean score was 2.0 (95% CI: 1.4, 2.6), and the mean OHL score 15.9 (95% CI: 15.2, 16.7). There was an inverse relationship between COHS and C-OHRQoL: ρ = ?0.32 (95% CI: ?0.45, ?0.18). There was no important association between OHL and C-OHRQoL; however, deleterious OHBs were associated with worse C-OHRQoL. Literacy-specific linear and Poisson regression estimates of the association between COHS and C-OHRQoL departed from homogeneity (Wald χ ² p < 0.2). Conclusion: In this community-based sample of caregiver/child dyads, a strong correlation was found between OHS and C-OHRQoL. The association's magnitude and gradient were less pronounced among caregivers with low literacy.     

Oral clefts and behavioral health of young children

Oral Diseases (2011) 18 , 74–84 Objectives: This study examined the behavioral health of young children with oral clefts, and effects of satisfaction with facial appearance, cleft team care, number of cleft‐related surgeries, and socioeconomic status (SES). Subjects and Methods: The study included a population‐based sample of 104 children aged 2–12 years with isolated oral clefts from the state of Iowa. Behavior was evaluated with the Child Behavior Checklist or the Pediatric Behavior Scale 30, depending on age, compared with normative samples. Results: Risks of behavioral problems were not significantly different from normative samples except for higher inattention/hyperactivity risks at age 6–12 years. Low satisfaction with facial appearance was associated with behavioral problems in all domains, except aggression. Team‐care effects were not associated with behavioral problems. Number of cleft‐related surgeries was associated with increased anxiety/depression and somatic symptom risks. Higher SES was associated with reduced inattention/hyperactivity, aggressive/oppositional behavior, and somatic symptoms. Conclusions: Most children with oral clefts may have similar behavioral health outcomes to unaffected children, except for increased inattention/hyperactivity risks at older ages. However, low satisfaction with facial appearance, increased exposure to surgeries, and lower SES may significantly increase behavioral problems. Also, the findings emphasize the need to study the representation of behavioral health professionals on cleft teams and access to behavioral health care.     

Complex analysis of multiple single nucleotide polymorphisms as putative risk factors of tooth agenesis in the Hungarian population

Objectives. The role was studied of multiple single nucleotide polymorphisms in tooth agenesis in the Hungarian population using a complex approach. Methods. Eight SNPs, PAX9 -912 C/T, PAX9 -1031 A/G, MSX1 3755 A/G, FGFR1 T/C rs881301, IRF6 T/C rs764093, AXIN2-8150 A/G, AXIN2-8434 A/G and AXIN2-30224 C/T, were studied in 192 hypodontia and 17 oligodontia cases and in 260 healthy volunteers. Case-control analysis was performed to test both allelic and genotypic associations as well as associations at the level of haplotypes. Multivariate exploratory Bayesian network-based multi-level analysis of relevance (BN-BMLA) as well as logistic regression analysis were performed. Results. Conventional statistics showed that PAX9 SNP -912 C/T and the MSX1 SNP changed the incidence of hypodontia, although after Bonferroni correction for multiple hypothesis testing, the effects were only borderline tendencies. Using a statistical analysis better suited for handling multiple hypotheses, the BN-BMLA, PAX9 SNPs clearly showed a synergistic effect. This was confirmed by other multivariate analyses and it remained significant after corrections for multiple hypothesis testing (p < 0.0025). The PAX9-1031-A-PAX9-912-T haplotype was the most relevant combination causing hypodontia. Interaction was weaker between PAX9 and MSX1, while other SNPs had no joint effect on hypodontia. Conclusion. This complex analysis shows the important role of PAX9 and MSX1 SNPs and of their interactions in tooth agenesis, while IRF6, FGFR1 and AXIN2 SNPs had no detectable role in the Hungarian population. These results also reveal that risk factors in hypodontia need to be identified in various populations, since there is considerable variability among them.     

Maxillary arch dimensions in cleft infants in Northern Finland

Abstract

Objective. The aim of this study was to examine the maxillary arch dimensions in cleft lip and/or palate infants in Northern Finland before surgery. Materials and methods. The subjects consisted of 70 Finnish cleft patients born between 1997–2004 in Northern Ostrobothnia Hospital District in Finland. The study casts were obtained before surgery at the mean age of 5.6 months (SD = 2.2). There were 42 children with cleft palate (CP) (26 girls/16 boys), 13 with unilateral cleft lip and palate (UCLP) (eight girls/five boys), eight children with cleft lip (CL)(two girls/six boys) and seven with bilateral cleft lip and palate (BCLP) (two girls/five boys). Conventionally-used landmarks were marked on study casts and cleft width, arch circumference, anterior and posterior arch width and arch length were measured with a digital sliding calliper. The statistical method was ANOVA. Results. The prevalence of CP in this study, 60% of all clefts, is higher than the average standards. There were statistically significant differences in cleft width, posterior and anterior arch width, arch length and arch circumference, when different cleft groups were compared. When differences between girls and boys were compared, boys had larger cleft size and arch dimensions generally, but the results were not statistically significant. Conclusions. The results show the large variation in the severity of cleft lip and/or palate deformity at birth and in maxillary arch dimensions between different cleft types. It also demonstrates the effect of phenotypic variability within the groups of cleft lip and/or palate.