Genetic variants in bone morphogenetic proteins signaling pathway might be involved in palatal rugae phenotype in humans

AbstractThis 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 unification (p = 0.017 in the additive model). The predominant shape (wavy) was associated with rs2119261 (p = 0.023 in the additive model). The left–right symmetry of the length of primary rugae was associated with rs3934908 in the recessive model (OR = 3.6, 95%CI 1.2–11.7; p = 0.025). In conclusion, genetic variants in the BMP pathway impacted on palatal rugae pattern.

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Association of polymorphisms in TP53 and the promoter region of IL10 with gastric cancer in a Kazakh population

Bosnian Journal of Basic Medical Sciences ◽

10.17305/bjbms.2020.4761 ◽

2020 ◽

Author(s):

Gulmira Kulmambetova ◽

Ivan Shtefanov ◽

Akbota Aitkulova ◽

Meruyert Imanbekova ◽

Aisha Iskakova ◽

...

Keyword(s):

Gastric Cancer ◽

Additive Model ◽

Recessive Model ◽

Categorical Variables ◽

Case Group ◽

Nucleotide Polymorphisms ◽

Chi Square ◽

Kazakh Population ◽

Chi Square Test ◽

Hardy Weinberg Equilibrium

The emerging evidence indicates that single nucleotide polymorphisms (SNPs) of the TNF, IL10, TP53, and CD14 genes may determine individual susceptibility to gastric cancer. We aimed to investigate the associations for polymorphisms of the TNF, IL10, TP53, and CD14 genes in a population of Kazakhs, to identify potential risk or protective associations of the SNPs with gastric cancer. A case group of 143 patients hospitalized for gastric cancer was enrolled. Controls were 355 volunteers with no history of any cancer and frequency matched with cases by age. Differences in proportions for categorical variables and the assessment of genotypic frequencies conforming to the Hardy–Weinberg equilibrium law were evaluated by the chi-square test. Associations between genetic polymorphisms and the risk of gastric cancer were estimated by regression analysis. For genetic analysis, three genetic models (additive, dominant, and recessive) were used. Four significant associations were found. The SNPs rs1042522 of TP53 and rs1800896 of IL10 were risk factors for gastric cancer by the additive model. Two polymorphisms of IL10 were protective of gastric cancer, namely, rs1800872 by additive model and rs1800871 by recessive model. No signiﬁcant associations were observed between TNF and CD14 polymorphisms and gastric cancer. The polymorphisms TP53 rs1042522 and IL10 rs1800896 are associated with gastric cancer risk, while the polymorphisms IL10 rs1800872 and rs1800871 are protective of gastric cancer in the population of Kazakhs.

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Haplotypes in BMP4 and FGF Genes Increase the Risk of Peri-Implantitis

Brazilian Dental Journal ◽

10.1590/0103-6440201600899 ◽

2016 ◽

Vol 27 (4) ◽

pp. 367-374 ◽

Cited By ~ 6

Author(s):

Renata Barboza Coelho ◽

Roberto Gonçalves Junior ◽

Ricardo de Mello Villas-Boas ◽

Leticia Ladeira Bonato ◽

Valquiria Quinelato ◽

...

Keyword(s):

Growth Factors ◽

Bone Loss ◽

Bone Morphogenetic Proteins ◽

Control Group ◽

Chi Square ◽

Spontaneous Bleeding ◽

Osseointegrated Implants ◽

Polymorphic Genotype ◽

Chi Square Test ◽

And Migration

Abstract Despite the success of osseointegrated implants, failures have increased significantly, associated with development of peri-implantitis. Multiple factors influence the peri-implant bone loss, including environmental and genetic causes. BMPs (Bone morphogenetic proteins) are growth factors that induce bone formation. FGF (fibroblast growth factors) and their receptors (FGFRs) play important roles by controlling the levels of cell proliferation, differentiation and migration. BMP/FGF relationship is responsible for promoting bone regeneration and bone loss. The aim of this study was to analyze the correlation between BMP4, FGF3, FGF10 and FGFR1 genes and peri-implant bone loss. Two hundred and fifteen volunteers, with 754 dental implants, were submitted to oral examination and divided in healthy group (n=129) and peri-implantitis group (n=86). Thirteen polymorphisms in BMP4, FGF3, FGF10 and FGFR1 genes were analyzed individually and in haplotype. The chi-square test correlated genotypes, allelic and haplotype frequencies. Values of p<0.05 were considered significant. Volunteers with peri-implantitis demonstrated high incidence of total edentulism (p<0.0001) and thin peri-implant phenotype (p<0.04). Higher incidence of spontaneous bleeding, plaque and implant mobility was observed in peri-implantitis group (p<0.0001 for all). The TT polymorphic genotype for BMP4 rs2761884 was associated with healthy peri-implant (p=0.01). FGF3 rs4631909 (TT+CT genotype) also showed association with the control group (p=0.04). The frequency of C allele for FGF3 rs4631909 showed a tendency for association with peri-implantitis (p=0.08). FGF10 CCTG (p=0.03), BMP4 GAAA (p=0.05) and GGGA (p=0.02) haplotypes were associated with peri-implantitis (p=0.03). Therefore, it may be concluded that BMP4 and FGF10 haplotypes are associated with peri-implantitis.

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Palatal Rugae Pattern in Nepalese Subjects

Orthodontic Journal of Nepal ◽

10.3126/ojn.v3i2.10076 ◽

2013 ◽

Vol 3 (2) ◽

pp. 36-39 ◽

Cited By ~ 1

Author(s):

Dipshikha Bajracharya ◽

Anisha Vaidya ◽

Sunaina Thapa ◽

Sujita Shrestha

Keyword(s):

Statistical Analysis ◽

Population Differentiation ◽

Forensic Odontology ◽

Chi Square ◽

Statistical Significant Difference ◽

Palatal Rugae ◽

Significant Difference ◽

Chi Square Test ◽

The Mean ◽

Gender Groups

Objective: To determine the number and pattern of palatal rugae in Nepalese subjects and to find the association of gender with the number and pattern of palatal rugae. Materials & Method: 200 Nepalese subjects comprising of 100 male and 100 female were randomly selected and their maxillary casts were examined for the palatal rugae length applying the classification proposed by Thomas and Kotze and palatal rugae pattern was recorded using the classification given by Kapali. Statistical analysis using Student t-test was applied for comparing the number of palatal rugae between right and left sides. Chi square test was used to find the association between gender and number of rugae as well as the pattern. Result: The study demonstrated that the mean number of primary palatal rugae on left side was predominant, similarly wavy pattern was the most predominant in Nepalese subjects. No statistical significant difference was noticed in the palatal rugae number and pattern between the gender groups. Conclusion: The study found predominant palatal form in Nepalese subjects which might have superior effectiveness in population differentiation and may be used as an effective tool in forensic odontology identification.

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Distribution of UGT1A1 (TA) polymorphisms in Caucasian and Asian subjects

Journal of Clinical Oncology ◽

10.1200/jco.2006.24.18_suppl.2063 ◽

2006 ◽

Vol 24 (18_suppl) ◽

pp. 2063-2063

Author(s):

J. Liu ◽

K. Qu ◽

Y. Ren ◽

A. Sferruzza ◽

R. A. Bender

Keyword(s):

Severe Neutropenia ◽

Group Differences ◽

Genotype Distribution ◽

Uridine Diphosphate ◽

Chi Square ◽

Men And Women ◽

Genotype Frequencies ◽

Fluorescent Pcr ◽

Chi Square Test ◽

Tata Sequence

2063 Background: The hepatic isoform 1A1 of uridine diphosphate glucuronosyltransferase (UGT) is responsible for glucuronidation and detoxification of SN-38, the active metabolite of irinotecan. The presence of an additional TA repeat in the TATA sequence of the UGT1A1 gene is a common polymorphism, leading to a significant decrease in SN-38 glucuronidation. Patients with the UGT1A1 (TA)7 allele (either [TA]6/7 or [TA]7/7 ) are more likely to experience severe neutropenia and diarrhea following irinotecan chemotherapy. We assessed the distribution of the UGT1A1 (TA) polymorphism in Caucasian and Asian subjects. Methods: We used a fluorescent PCR-based assay to detect UGT1A1 (TA) polymorphisms in 129 healthy subjects (52 Caucasian, 34 Chinese, 36 Filipino, and 7 Japanese). The chi-square test was used to assess between-group differences in the distribution of UGT1A1 (TA) genotypes. Results: UGT1A1 (TA) genotype distribution differed significantly between Caucasian and Asian subjects (P = 0.003). The UGT1A1 (TA)6/7 and (TA)7/7 genotypes were more common in Caucasians than Asians. Genotype distributions did not differ significantly between men and women in either group ( Table ). Conclusions: The frequency of the deleterious UGT1A1 (TA)7 polymorphism was greater in Caucasians than in Asians; genotype frequencies were consistent with previous reports. In both groups, UGT1A1 (TA) genotype distributions were similar in men and women. [Table: see text] No significant financial relationships to disclose.

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Interleukin-18 Polymorphisms Impose Considerable Impacts on Ankylosing Spondylitis Occurrence

10.21203/rs.3.rs-34936/v1 ◽

2020 ◽

Author(s):

Wenlong Gou ◽

Hai Wang ◽

Yu Wang ◽

Quanyin Du ◽

Ziming Wang

Keyword(s):

Linkage Disequilibrium ◽

Ankylosing Spondylitis ◽

Chinese Population ◽

Strong Linkage Disequilibrium ◽

Genotype Distribution ◽

Interleukin 18 ◽

Chi Square ◽

The Status ◽

Chi Square Test ◽

Hardy Weinberg Equilibrium

Abstract Background: This research was conducted to explore the genetic association of interleukin-18 (IL-18) polymorphisms in promoter with ankylosing spondylitis (AS) in Chinese population using a case-control design.Methods: Polymerase chain reaction (PCR) and sequencing were used to complete the genotyping of IL-18 polymorphisms in 146 AS patients and 134 healthy controls. The genotype distribution of polymorphism was detected the status of Hardy-Weinberg equilibrium (HWE). The genotype and allele frequencies difference between the two groups was compared by chi-square test. Odds ratio (OR) with 95% confidence interval (95%CI) was calculated to express the association strength of AS. The linkage disequilibrium of IL-18 polymorphisms was investigated in AS occurrence by Haploview.Results: TT genotype and T allele of rs1946518 showed the significantly higher frequencies in AS patients than that of the controls (P=0.042, 0.026), which indicated that rs1946518 was obviously associated with AS risk (TT vs. GG: OR=1.993, 95%CI=1.021-3.891; T vs.G: OR=1.460, 95%CI=1.046-2.038). However, no significant association was found between rs187238 and AS. Moreover, the strong linkage disequilibrium was found and haplotype rs1946518T-rs187238C was a susceptible factor of AS (OR=1.638, 95%CI=1.017-2.639).Conclusion: IL-18 rs1946518 polymorphism may contribute to the susceptibility of individuals to AS in Chinese population, but not another polymorphism rs187238. The interaction of the two polymorphisms should be considered in AS etiology.

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Inhibition of the BMP pathway prevents development of Barrett’s-associated adenocarcinoma in a surgical rat model

Diseases of the Esophagus ◽

10.1093/dote/doab072 ◽

2021 ◽

Author(s):

Wytske M Westra ◽

Danielle Straub ◽

Francesca Milano ◽

Navtej S Buttar ◽

Kenneth K Wang ◽

...

Keyword(s):

Bone Morphogenetic Proteins ◽

Reflux Esophagitis ◽

Rat Model ◽

Controlled Trial ◽

Local Delivery ◽

Chi Square ◽

Randomized Controlled ◽

Aggressive Cancer ◽

Bmp Pathway ◽

Bmp Antagonist

Summary Introduction Esophageal adenocarcinoma (EAC) is an aggressive cancer, associated with reflux esophagitis and intestinal metaplasia (IM). One underlying biological mechanism, which possibly drives the development of EAC, is the dysregulated expression of Bone Morphogenetic Proteins (BMPs). Aim To investigate if local delivery of Noggin, a BMP antagonist, reduced EAC. Methods After obtaining proof of principal on local delivery of a Noggin/Sucralfate substance, a randomized controlled trial to test the effects of Noggin on EAC development was performed in a surgical rat model. In the model, an esophago-jejunostomy leads to development of reflux-esophagitis, IM and eventually EAC. Rats were treated by Noggin/Sucralfate or Sucralfate alone. Treatment was administered from 26 to 29 weeks after the operation. Results Of the 112 operated rats, 52 survived beyond 26 weeks. Finally, 25 rats treated with Noggin/Sucralfate and 21 with Sucralfate, were evaluated. At the end, 39 (85%) of the animals had IM while 28 (61%) developed cancer. There were significantly more cancers in the Noggin/Sucralfate arm (50%) versus the Sucralfate group (73%) (Chi square, P < 0.05). Most cancers were mucous producing T3 adenocarcinomas. There were no significant differences in the amount of IM, size or grade of the cancers, or expression of columnar and squamous markers between the two groups. Conclusion In this study, we demonstrated that inhibition of BMPs by Noggin reduced development of EAC in a surgical esophagitis-IM-EAC rat model. In future, effective targeting of the BMP pathway with selective BMP-inhibitors could become an important asset to improve EAC patient outcome.

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Genetic Polymorphism in MMP9 May Be Associated With Anterior Open Bite in Children

Brazilian Dental Journal ◽

10.1590/0103-6440201600992 ◽

2017 ◽

Vol 28 (3) ◽

pp. 277-280 ◽

Cited By ~ 1

Author(s):

Erika Calvano Küchler ◽

Driely Barreiros ◽

Raphaela Oliveira da Silva ◽

Júlia Guimarães Barcellos de Abreu ◽

Ellen Cardoso Teixeira ◽

...

Keyword(s):

Logistic Regression ◽

Regression Analysis ◽

Logistic Regression Analysis ◽

Protective Factor ◽

Recessive Model ◽

Open Bite ◽

Anterior Open Bite ◽

Chi Square ◽

Genotype Frequencies ◽

Chi Square Test

Abstract Anterior open bite (AOB) has a multifactorial etiology caused by the interaction of sucking habits and genetic factors. The aim of this study was to evaluate the association between AOB and polymorphisms in genes that encode Matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs). Four hundred and seventy-two children that presented at least one sucking habit were evaluated. Children were examined clinically for the presence of AOB. Genomic DNA was extracted from saliva. Genotyping of the selected polymorphisms in MMP2, MMP3, MMP9, TIMP1 and TIMP2 was carried out by real-time PCR using the TaqMan method. Allele and genotype frequencies were compared between the groups with and without AOB using the PLINK® software in a free and in a recessive model using a chi-square test. Logistic regression analysis was implemented (p≤0.05). Two hundred nineteen children had AOB while 253 did not. The polymorphism rs17576 in MMP9 was significantly associated with AOB (p=0.009). In a recessive model GG genotype was a protective factor for AOB (p=0.014; OR 4.6, 95%CI 1.3-16.2). In the logistic regression analysis, none of the genes was associated with AOB. In conclusion, the polymorphism rs17576 (glutamine for arginine substitution) in MMP9 was a protective factor for AOB.

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Association Study of Genetic Variants in the 14q11 - 14q13 Proteasomal Genes Cluster with Juvenile Idiopathic Arthritis (JIA) in Latvian Population

Proceedings of the Latvian Academy of Sciences Section B Natural Exact and Applied Sciences ◽

10.2478/v10046-009-0045-2 ◽

2009 ◽

Vol 63 (4-5) ◽

pp. 214-221 ◽

Cited By ~ 2

Author(s):

Ilva Trapiņa ◽

Ingrīda Rumba-Rozenfelde ◽

Nikolajs Sjakste ◽

Jeļizaveta Sokolovska ◽

Olga Sugoka ◽

...

Keyword(s):

Juvenile Idiopathic Arthritis ◽

Association Study ◽

Genetic Variants ◽

Additive Model ◽

Genotype Distribution ◽

Healthy Individuals ◽

Allelic Variants ◽

Specific Pcr ◽

Genotype Frequencies ◽

Proteasomal Genes

Association Study of Genetic Variants in the 14q11 - 14q13 Proteasomal Genes Cluster with Juvenile Idiopathic Arthritis (JIA) in Latvian Population The possible role of proteasomes in the development of autoimmune diseases was hypothesised after discovery of the involvement of proteasomal LMP2 and LMP7 subunits in antigene processing. The objective of this study was to determine the association between allelic variants of the genes encoding proteasomal proteins PSME1, PSME2 and PSMA6 and juvenile idiopathic arthritis (JIA) in the Latvian population. One Indel G-4543 CA-4544 →GA and four SNPs related to the PSMA6 gene (A-2486 →G and C-1910 →T, upstream promoter, C-110 →A of promoter, and C-8 →G of 5'UTR), of two cSNP in PSME1 (G1457 →A:Val104, exon 6 and C2536 →A: Lys244 →Thr, exon 11) and in PSME2 (C1153 →G:Arg61 →Gly, exon 4 and A1440 →C:His89 →Pro, exon 6) were geno-typed by means of primer-specific PCR, CAPS assay and/or sequencing in case/control study composed from the 156 JIA patients and 214 healthy individuals. Allele frequency and genotype distribution was similar in cases and controls for Indel, and SNPs A-2486 →G, C-1910 →T and C-8 →G of PSMA6, as well as for all studied cSNPs in PSME1 and PSME2 genes. Differences in A-110 allele and CG genotype frequencies were close to the statistically significant P level in JIA patients and healthy individuals, however, when an additive model was applied, the difference in the C-110 →A locus turned out to be statistically significant. The results support the hypothesis of the possible association of PSMA6 gene allelic variants with JIA in the Latvian population.

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Comparison of EuroSCORE II with EuroSCORE in Cardiac Surgical Patients in a Tertiary Level Teaching Hospital in Nepal

Journal of Institute of Medicine ◽

10.3126/jiom.v42i2.37525 ◽

2020 ◽

Vol 42 (2) ◽

pp. 5-9

Author(s):

Bishwas Pradhan ◽

Priska Bastola ◽

Madindra B Basnet ◽

Bibhush Shrestha ◽

Shailendra Sigdel ◽

...

Keyword(s):

Roc Curve ◽

Additive Model ◽

Area Under The Curve ◽

Surgical Patients ◽

Operating Characteristics ◽

Chi Square ◽

Discrimination Power ◽

Standard Tool ◽

Chi Square Test ◽

Cardiac Operative Risk Evaluation

Introduction European System for Cardiac Operative Risk Evaluation (EuroSCORE) is the standard tool for risk stratification of patients undergoing cardiac surgery. Its relevance has been validated in European, Asian countries and also in Nepal. Its limitations led to development of EuroSCORE II. This study was carried out to compare EuroSCORE II with EuroSCORE in Nepalese cardiac surgical patients. MethodsA retrospective analytical cohort study of 3 years duration in 972 adult cardiac surgeries was conducted. Scores obtained from EuroSCORE (Logistic and Additive) and EuroSCORE II was compared with the observed mortality. Calibration was calculated by Hosmer- Lemeshow (H-L) test (Chi Square test) and discrimination by calculating the area under the curve (AUC) of receiver operating characteristics (ROC) curve. ResultsObserved mortality was 4.11%. EuroSCORE additive, logistic and EuroSCORE II predicted mortality were 4.32%, 4.55% and 2.13% respectively. H-L chi square calculation for EuroSCORE additive model could not hold as all observed and expected frequencies match exactly. Hence it can be considered as a good fit. EuroSCORE logistic model (H-L, Chi-square 7.743, p<0.001) and EuroSCORE II (H-L, Chi-square 11.631, p = 0.168) also showed good fit i.e. both can predict mortality satisfactorily. AUC of ROC curve of EuroSCORE additive, logistic and EuroSCORE II were 0.632, 0.636 and 0.616 respectively, which showed fair discrimination power. ConclusionMortality prediction of adult cardiac surgical patients by EuroSCORE (additive and logistic) and EuroSCORE II was satisfactory.

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Palatal Rugoscopy among Puducherry Population

The Journal of Contemporary Dental Practice ◽

10.5005/jp-journals-10024-1158 ◽

2012 ◽

Vol 13 (3) ◽

pp. 401-404 ◽

Cited By ~ 6

Author(s):

Sathish Kumar ◽

N Balaji ◽

V Shanthi ◽

MK Sumathi ◽

Priya Vendhan

Keyword(s):

Statistical Significance ◽

Human Identification ◽

Female Group ◽

Chi Square ◽

Male And Female ◽

Female Patients ◽

Circular Pattern ◽

Palatal Rugae ◽

Significant Difference ◽

Chi Square Test

ABSTRACT Background Human identification is one of the most challenging subjects that man has been confronted with. The fingerprints and DNA comparison are the most commonly used techniques in human identification. Palatoscopy is one of the recently developing methods to identify a victim-based on the palatal rugae pattern. Aims and objectives The aim of the study was to analyze the different rugae pattern in Puducherry population and to find whether palatoscopy is a useful tool in human identification and sex determination. Materials and methods The studies consist of 100 male and female patients between the age group of 20 to 35 years. The rugae pattern was divided assessed based on Kotze classification. Chi-square test and one-way analysis was used to study the statistical significance. Results Wavy pattern appeared to be the most predominant pattern followed by curved, straight, branched and circular pattern in both male and female patients. The shape and number of rugae pattern is similar in male and females. Conclusion The present study concludes that wavy pattern appear to be most common rugae pattern among Puducherry population. No significant difference in rugae pattern was noted among the male and female group. Rugae pattern is unique to each individual and can be an effective tool in human identification. How to cite this article Kumar S, Vezhavendhan N, Shanthi V, Balaji N, Sumathi MK, Vendhan P. Palatal Rugoscopy among Puducherry Population. J Contemp Dent Pract 2012;13(3): 401-404.

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