Enamel Formation Genes Associated with Dental Erosive Wear

2015 ◽  
Vol 49 (3) ◽  
pp. 236-242 ◽  
Author(s):  
Jenny B. Søvik ◽  
Alexandre R. Vieira ◽  
A.B. Tveit ◽  
Aida Mulic

Dental erosive wear is a multifactorial condition that is greatly affected by environmental factors. So far, no study has investigated how dental erosive wear is influenced by variations in enamel formation genes. The aim of the present study was to investigate polymorphisms in genes involved in enamel formation and their influence on enamel susceptibility to dental erosion. DNA samples were collected from 795 Norwegian adolescents aged 16-18 years. Five single-nucleotide polymorphism markers were genotyped in selected candidate genes (ameloblastin, amelogenin, enamelin, tuftelin 1 and tuftelin interacting protein 11), reported to influence enamel formation. Allele and genotype frequencies were compared within two patient groups with dental erosions; all participants with dental erosion and only those with severe dental erosion (erosion extending into dentine). Overrepresentation of the G allele of the enamelin marker was seen in the erosion group compared to the unaffected group (p = 0.047). When erosion severity was considered, statistical significant difference in allele frequency was observed for amelogenin, with the C allele suggesting a protective role (p = 0.02). A suggestive overrepresentation of the TT genotype of the amelogenin marker was also seen in cases with severe erosion (p = 0.049) when compared to cases with no dentine erosion. Amelogenin was also associated with severe erosion in the recessive model; the TT genotype was significantly more frequent in the affected group than in the unaffected group (p = 0.01). The present study suggests that polymorphisms in enamel formation genes are statistically associated with an individual's susceptibility to dental erosive wear.

2020 ◽  
Vol 77 (3) ◽  
pp. 300-307
Author(s):  
Jovana Manevski ◽  
Ivana Stojsin ◽  
Karolina Vukoje ◽  
Ognjenka Jankovic

vomiting, which in long term can result in irreversible loss of dental tissue, most commonly manifested as dental erosion. Frequent purging, xerostomia, lack of oral hygiene and acidic environment are also suitable for caries development. The aim of the research was to determine the presence, localization and degree of dental erosion using Basic Erosive Wear Examination (BEWE) index system, as well as to determine the Decayed, Missing and Filled Teeth (DMFT) index in purging bulimic patients. Methods. The study involved 30 purging bulimic patients and 30 healthy subjects. Used methods were survey (questionnaire) and clinical examination. The clinical examination included intraoral inspection and assessment of dental status using BEWE and DMFT index. Results. On the bases of conducted research, it has been found that dental erosion are significantly more often present in purging bulimics compared to the controls (?2 = 5.963, p < 0.05), that eroded lesions are more severe in the bulimic group (t = 3.925, p < 0.05) and predominantly located on oral surfaces of the teeth (?2 = 10.561, p < 0.05). DMFT index values showed no significant difference between bulimic patients and controls (t = 0.741, p = 0.461). Conclusion. Dental erosion are often encountered in patients suffering purging bulimia, especially on oral surfaces of anterior teeth that come into direct contact with gastric acid, so many bulimics exhibit high values of erosive tooth wear on mentioned surfaces. DMFT index score did not show significant differences compared to healthy participants, but due to complexity of carious process further investigation is necessary.


2016 ◽  
Vol 35 (3) ◽  
pp. 312-318 ◽  
Author(s):  
Tijana Krnjeta ◽  
Ljiljana Mirković ◽  
Svetlana Ignjatović ◽  
Dragana Tomašević ◽  
Jelena Lukić ◽  
...  

SummaryBackground: Up until now there have been contradictory data about the association between p.Val158Met catechol-O-methyltransferase (COMT) polymorphism and risk of preeclampsia (PE). The goal of this study was to assess the potential correlation between p.Val158Met COMT polymorphism and risk of early-onset PE, risk of a severe form of early-onset PE, as well as risk of small-for-gestationalage (SGA) complicating PE.Methods: The study included 47 early-onset PE patients and 47 control cases. Forty-seven early-onset PE patients were grouped by disease severity (33 patients with a severe form and 14 patients without severe features) and secondly by size for gestational age (12 patients with appropriate-for-gestational-age (AGA) and 35 patients with SGA size). p.Val158Met polymorphism was genotyped by PCR-RFLP analysis.Results: Allele analysis showed significant difference in COMT allele distribution between early-onset PE and control group as well as early-onset PE SGA and controls (p=0.04057 and p=0.0411 respectively). A statistically significant distribution difference between the severe form and form without severe features of early-onset PE patients was not observed (p>0.05). The highest difference observed was in the allele recessive model where COMT MetMet genotype was associated with decreased risk of early-onset PE (OR=0.281; 95%CI=0.092-0.7836) and PE complications including severe early-onset PE (OR= 0.304; 95%CI=0.086-0.944) and SGA early-onset PE (OR=0.284; 95%CI=0.081-0.874).Conclusions: COMT may be used as a candidate gene for early-onset PE and its severe form and SGA complications.


2019 ◽  
Vol 44 (6) ◽  
pp. E279-E288
Author(s):  
T Wohlrab ◽  
S Flechtenmacher ◽  
J Krisam ◽  
D Saure ◽  
D Wolff ◽  
...  

SUMMARY Objectives: The aim of this trial was to investigate the diagnostic value of the basic erosive wear examination (BEWE) in clinical use, on dental photographs, and on dental casts over a two-year follow-up period (2013-2015). According to the main hypothesis for longitudinal monitoring of dental erosion, the BEWE is equally reproducible by the three assessment methods. Methods and Materials: The clinical assessment included intraoral photographic documentation, dental impressions, oral examination, and assessment of BEWE. Clinical assessment of BEWE was done by one blinded examiner, whereas assessment on photographs and dental casts was performed by three calibrated examiners and repeated after 14 days. The three assessment methods were analyzed separately by longitudinal agreement and inter- and intrarater reliability (intraclass correlation coefficient) alongside 95% confidence intervals (CIs). Results: Comparing the longitudinal data of the years 2013-2015, clinical use and photographs showed no significant difference (p=0.0681-0.9963), whereas the statistical analysis showed a significant difference for dental casts by comparing data from 2013 vs 2014 (p=0.0266) as well as data from 2013 vs 2015 (p=0.0001). Statistical evaluation of overall BEWE showed an intrarater reliability of 0.79-0.91 for photographs and 0.60-0.87 for dental casts. The interrater reliability was 0.77 (95% CI=[0.69; 0.84]) for photographs and 0.63 (95% CI=[0.52; 0.72]) for dental casts. Conclusion: This investigation showed that in longitudinal clinical monitoring, the assessment of the BEWE on patients and dental photographs yielded comparable results. In addition, based on these findings, the assessment of the BEWE on dental casts showed moderate reproducibility. Therefore, dental casts may be better used for laboratory assessment techniques.


Author(s):  
J.E. Azimova ◽  
E.A. Klimov ◽  
E.A. Naumova ◽  
Z.G. Kokaeva ◽  
A.I. Zaitseva ◽  
...  

Перспективным в изучении биомаркеров мигрени может быть многолокусный анализ, в частности, анализ частот сочетанных генотипов. Цель исследования - поиск составных генетических биомаркеров индивидуальной предрасположенности к мигрени, полученных на основе полиморфизмов генов, уже показавших статистическую значимость при однолокусном ассоциативном анализе. Методика. Обследовано 155 пациентов с мигренью (104 пациента с эпизодической мигренью, 51 - с хронической мигренью), наблюдавшихся в Университетской клинике головной боли (Москва). Все пациенты - представители белой расы, жители Московского региона. Возраст пациентов - 30-50 лет. Контроль составили 365 необследованных лиц (популяционный контроль). Выявление исследуемых 22 генов (всего 31 SNP) осуществляли методом ПЦР, ПЦР-ПДРФ, аллель-специфичной ПЦР и ПЦР в реальном времени. Выявление ассоциированных с мигренью сочетанных генотипов проводили с использованием программы анализа полигенных данных APSampler v3.6. Результаты. Выявлено 8 сочетанных генотипов с высокой статистически значимой ассоциацией с мигренью (ОШ>20,0). В состав сочетанных генотипов вошли гены: CCKAR, CCKBR, COMT, MTHFR, MTR, MTRR. Так же выявлено 4 защитных сочетанных генотипа (ОШ<0,02), основным в которых является ген MAOA. Заключение. Полученные данные об ассоциированных с мигренью сочетанных генотипах указывают на значимую роль в патогенезе заболевания 2 биохимических систем: 1) холецистокининергической системы, регулирующей выброс и обратный захват дофамина, и 2) фолатного цикла, в ходе работы которого гомоцистеин метаболизируется в метионин. Результаты, полученные в данном исследовании, позволяют говорить о защитной роли аллеля VNT:R4 гена MAOA.Multilocus analysis, specifically, analysis of combined genotype frequencies may be promising in studying migraine biomarkers. The aim of the study was to search for composite genetic biomarkers, which would predict individual predisposition to migraine, obtained on the basis of gene polymorphisms that have already shown a statistical significance in a single-locus associative analysis. Methods. 155 patients with migraine aging 41.7 ± 12.5 who had been followed up at the University Clinic of Headache, Moscow, were evaluated (104 patients with episodic migraine and 51 with chronic migraine). All patients were white and residents of the Moscow region. The control group included 365 unexamined individuals (population control). Identification of The 22 genes under study (total, 31 SNPs) were identified by PCR, PCR-RFLP, allele-specific PCR, and real-time PCR. Combined genotypes associated with migraine were identified using the APSampler v3.6 software for polygenic data analysis. Results. Eight combined genotypes were identified with a highly significant association with migraine (OR> 20.0). The combined genotypes included the CCKAR, CCKBR, COMT, MTHFR, MTR, and MTRR genes. Four protective combined genotypes were also identified (OS <0.02) with the MAOA gene as the major one. Conclusion. Our data on migraine-associated combined genotypes indicate a significant role in the migraine pathogenesis of two biochemical systems, i) the cholecystokininergic system that regulates the release and reuptake of dopamine, and ii) the folate cycle, where homocysteine is metabolized to methionine. The results obtained in this study suggest a protective role of the VNT: R4 allele of the MAOA gene.


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1039.2-1040
Author(s):  
N. Dostanko ◽  
V. Yagur ◽  
R. Goncharova ◽  
E. Siniauskaya ◽  
T. Zybalova

Background:Systemic lupus erythematosus (SLE) has a significant genetic predisposition. Many genetic variants of susceptibility to SLE have been published and analyzed, but the clinical and functional significance of the various genotypes has not yet been clearly defined [1].Objectives:To estimate the association between some of non-HLA gene polymorphisms such as STAT4 rs7574865, RUNX1 rs9979383, IL6 rs1800795, IL6R rs2228145, IL6R rs4845618 and susceptibility to SLE in Belarusian population as well as some disease manifestations.Methods:We examined 383 healthy blood donors and 54 SLE patients (18-72 years old, median age 35) classified according to the 1997 American College of Rheumatology (ACR) revised classification criteria [2]. Deoxyribonucleic acid was extracted from peripheral blood samples by phenol-chloroform method. Genotyping was performed by real-time PCR with fluorescent probes. Differences of distribution of all the single nucleotide polymorphism (SNP) genotypes and their associations with secondary antiphospholipid syndrom (APS) and lupus arthritis were analyzed using Pearson χ2 (χ2) and two-way Fisher exact test (F, p2-t). Diagnostic odds ratio (dOR), likelihood ratio of positive (LR +) and negative (LR –) tests and corresponding 95% confidence intervals (CI) were also calculated.Results:We revealed significant difference in STAT4 rs7574865 genotypes in SLE patients and healthy donors (χ2=8,27, р=0,016) with significant increase of ТТ genotype frequency in SLE patients vs healthy donors (χ2=6.83 p=0.009; p2-t =0.020; dOR=3.78 (CI95% 1.36-10.55); LR+ =3.44 (CI95% 1.35-8.71); LR– =0.91 (CI95% 0.83-0.98)). Lupus arthritis was more common in risk TT-genotype SLE carriers than in other SLE patients (χ2=5.902 p=0.015; p2-t =0.027).We revealed significant increase of СТ genotype (RUNX1 rs9979383) in healthy donors vs SLE patients (χ2=4.14; p=0.042; dOR=0.53 (CI95% 0.29-0.98); LR+ =0.69 (CI95% 0.45-0.99); LR– =1.3 (CI95% 1.01-1,56)). Lupus arthritis was more common in SLE СТ-genotype carriers than in other SLE patients (χ2=4.66 p=0.031; p2-t =0.058).Significant differences in IL6 rs1800795, IL6R rs2228145 and IL6R rs4845618 genotypes distribution between studied groups were not found (χ2, p=0.427, p=0.559 and p=0.407, correspondingly) but GG-genotype (IL6 rs1800795) carriership in SLE patients was associated with increased APS frequency (χ2=4.45, p=0.035; dOR=0.19 (CI95% 0.04-0.9); LR+ =0.28 (CI95% 0.07-0.93); LR– =1.41 (CI95% 1.03-1.64).Conclusion:Our data suggest the susceptibility to SLE in ТТ genotype of STAT4 rs7574865 polymorphism, protective role of СТ genotype of RUNX1 rs9979383 for SLE and association between GG-genotype of IL6 rs1800795 and APS in SLE patients in Belarusian population. Lupus arthritis was associated with ТТ genotype of STAT4 rs7574865 and СТ genotype of RUNX1 rs9979383.References:[1]Chen L, Morris DL, Vyse TJ. Genetic advances in systemic lupus erythematosus: an update. Curr Opin Rheumatol 2017;29:423–33.[2]Hochberg MC. Updating the American College of Rheumatology Revised Criteria for the classification of Systemic Lupus Erythematosus. Arthritis Rheum 1997;40:1725.Disclosure of Interests:None declared


2008 ◽  
Vol 24 (3) ◽  
pp. 175-179 ◽  
Author(s):  
Renato Scacchi ◽  
Giuseppe Gambina ◽  
Elisabetta Broggio ◽  
Maria Ruggeri ◽  
Rosa Maria Corbo

The human endothelin-converting enzyme (ECE) is involved inβ-amyloid synthesis and regulation of the endothelin-1 (ET-1) vasoconstricting peptide. We investigated the distribution of the C-338A polymorphism of the ECE-1b gene in sporadic late-onset Alzheimer’s disease (LOAD) and in coronary artery disease (CAD) to verify its role in the onset of these two complex diseases. Two cohorts of 458 Italian Caucasian LOAD patients and 165 CAD patients were examined for the C-338A polymorphism and compared with respective control samples (260 and 106 subjects, respectively). The A allele was less present in LOAD patients than in controls, but an at limits statistically significant difference was achieved only in subjects aged less than 80 years, where only the AA genotypes appeared to have a protective role against the onset of the sporadic LOAD. For the overall CAD sample the pattern was similar and significant differences were observed only in subjects non carrying the apolipoprotein E (APOE) e*4 allele, where the A allele carrying genotypes had a protective role against the onset of the disease.


Author(s):  
Pierre L. Bonnet ◽  
Solène Le Gal ◽  
Claire V. Hoffmann ◽  
Florent Morio ◽  
Fouleymata Diabira ◽  
...  

Echinocandins are noncompetitive inhibitors of the GSC1 subunit of the enzymatic complex involved in synthesis of 1,3-beta-D-glucan, a cell wall component of most fungi, including Pneumocystis spp. Echinocandins are widely used for treating systemic candidiasis and rarely used for treating Pneumocystis pneumonia. Consequently, data on P. jirovecii gsc1 gene diversity are still scarce, compared to the homologous fks1 gene of Candida spp. In this study, we analyzed P. jirovecii gsc1 gene diversity and the putative selection pressure of echinocandins on P. jirovecii. Gsc1 gene sequences of P. jirovecii specimens from two patient groups were compared. One group of 27 patients had prior exposure to echinocandins whereas the second group of 24 patients did not, at the time of P. jirovecii infection diagnoses. Two portions of P. jirovecii gsc1 gene, HS1 and HS2, homologous to hot spots described in Candida spp., were sequenced. Three SNPs at positions 2204, 2243, and 2303 close to the HS1 region and another SNP at position 4540 more distant from the HS2 region were identified. These SNPs represent synonymous mutations. Three gsc1 HS1 alleles, A, B, and C, and two gsc1 HS2 alleles, a and b, and four haplotypes, Ca, Cb, Aa, and Ba, were defined, without significant difference in haplotype distribution in both patient groups ( p = 0.57). Considering the identical diversity of P. jirovecii gsc1 gene and the detection of synonymous mutations in both patient groups, no selection pressure of echinocandins among P. jirovecii microorganisms can be pointed out so far.


2018 ◽  
Vol 38 (6) ◽  
Author(s):  
Zhi Jian Wang ◽  
Jie Chen ◽  
Hai Liang Chen ◽  
Lin Yan Zhang ◽  
Duo Xu ◽  
...  

Resistance to valproic acid (VPA), a first-line antiepileptic drug (AED), is occurring at an alarming rate, particularly in children. Signal nucleotide polymorphisms are considered crucial in this process. Therefore, we investigated whether the SCN1A polymorphism rs3812718 could be associated with VPA resistance. A total of 231 children with epilepsy who were solely administered VPA were enrolled. DNA was extracted from the peripheral blood samples and was genotyped by the Mass Array method. Furthermore, a meta-analysis was conducted between the drug responsive and resistant patients who were exposed to voltage-gated sodium channels. Results revealed that the TT genotype was associated with a higher risk of developing drug resistance (OR = 2.636, 95% CI 1.08–6.433, P = 0.033). After adjusting for the risk factors, a significant difference was still observed between the responsive and resistant groups (OR = 2.861, 95% CI 1.141–7.174, P = 0.025). Moreover, the recessive model was associated with a decreased drug resistance (OR = 0.402, 95% CI 0.167–0.968, P = 0.042) after correcting the risk factors. Meta-analysis of nine studies revealed similar results. In conclusion, our results proved that the rs3812718 TT genotype was associated with a high risk of developing drug resistance, and the recessive model could decrease the risk of VPA resistance.


2010 ◽  
Vol 92 (6) ◽  
pp. 463-465 ◽  
Author(s):  
James McDaid ◽  
Claire Reichl ◽  
Ihsan Hamzah ◽  
Samantha Fitter ◽  
Laura Harbach ◽  
...  

INTRODUCTION We observed that a number of patients presenting to our clinic with diverticular fistulation were taking nicorandil for angna. Recognised side effects of nicorandil include gastrointestinal and genital ulceration. The aim of our study was to determine whether nicorandil is an aetiological agent in diverticular fistulation. PATIENTS AND METHODS We conducted a case-control study of patients with diverticular disease related enteric fistulae. Two patient groups were identified: a study group of patients with diverticular fistulae, and a control group with uncomplicated diverticular disease. The proportion of patients who had ever used nicorandil was compared between the two groups. RESULTS A total of 153 case notes were analysed, 69 patients with fistulae and 84 control patients with uncomplicated diverticular disease. Female to male ratio in both groups was 2:1. The mean age was 71 years in the fistula group and 69 years in the control diverticular disease group (P = ns). Of those with colonic fistulae, 16% were taking nicorandil compared with 2% of the control group (odds ratio 7.8; 95% confidence interval 1.5–39.1; P = 0.008). There was no significant difference in rates of ischaemic heart disease between fistula and control groups. CONCLUSIONS Nicorandil is associated with fistula formation in diverticular disease.


2018 ◽  
Vol 16 (2) ◽  
Author(s):  
Caleb Shitsuka ◽  
Flávia Kazue Ibuki ◽  
Fernando Neves Nogueira ◽  
Fausto Medeiros Mendes ◽  
Marcelo Bönecker

ABSTRACT Objective To evaluate oxidative stress in saliva of children with dental erosion as compared to children with no erosion. Methods One single examiner, trained and prepared to make diagnosis of dental erosion according to the Basic Erosive Wear Examination index, selected 40 children aged 4 to 6 years, who attended a pediatric dentistry prevention clinic. Two groups were formed - one comprising children with dental erosion (n=22), and another with no dental erosion (n=18). The quantity of dental biofilm was verified using the Simplified Index of Oral Hygiene, and unstimulated saliva was collected for biochemical analyses. The following were assessed in saliva: flow rate, buffering capacity, pH, and total protein concentration. Malondialdehyde levels were also verified to determine oxidative stress and total antioxidant status. Results The quantity of biofilm was smaller in children with mean dental erosion±standard deviation (0.76±0.25), as compared to those with no dental erosion (1.18±0.28). There was no statistical difference in saliva parameters of oxidative stress in children with dental erosion. Conclusion The activity of oxidative stress in saliva did not influence dental erosion process when in its early stages.


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