Association of β-defensin 1 gene Polymorphism and dental caries susceptibility in Tamil Ethnicity

2021 ◽  
pp. 4731-4735
Author(s):  
Harini Venkata Subbiah ◽  
Usha Subbiah ◽  
Athira Ajith
Keyword(s):  
Dental Caries ◽  
Odds Ratio ◽  
Regulatory Elements ◽  
Microbial Colonization ◽  
Nucleotide Polymorphisms ◽  
First Line ◽  
Single Nucleotide ◽  
Variant Genotype ◽  
Dental Caries Susceptibility ◽  
Genetic And Environmental Factors

Dental caries is a multifactorial disease that affects a large proportion of the population with both genetic and environmental factors contributing to the disease. Even in healthy oral environmental conditions, some individuals are susceptible to dental caries due to potential genetic contribution. Antimicrobial peptides are expressed in oral cavity and play an important role against microbial colonization and form an important first line defense against cariogenic bacteria. In the present study, we attempt to identify genetic variants that would cause significant functional impact towards susceptibility to dental caries. We investigated single nucleotide polymorphisms (SNPs) of beta-defensin 1 (DEFB1) as predictors of dental caries in tamil ethnic population. A total of 120 subjects were recruited for this study, which included 60 dental caries patients (DMFT>5) and 60 healthy controls (DMFT=0). Three SNPs of 5’UTR regulatory elements of DEFB1 were genotyped by PCR followed by Sanger sequencing. The genotypes associated with susceptibility to caries were found to be significant between rs11362 (p=.025, odds ratio = 3.72, 95% confidence interval (CI) = 1.289-10.742), rs1799946 (p=.023, odds ratio=4.32, 95% CI = 1.33-14.028) gene polymorphisms and risk of dental caries (DMFT>5) in tamil ethnicity. The variant genotype GG of rs1800972 polymorphism was found to be high in cases than controls but was not significant (p=0.136). Our data suggested that β-defensin 1 polymorphisms play a role in the susceptibility to dental caries.

scholarly journals Study of rs12532, rs8670 Polymorphism of Msh Homeobox 1 (MSX1), rs61754301, rs4904155 Polymorphism of Paired Box Gene 9 (PAX9), and rs2240308 Polymorphism of Axis Inhibitor Protein 2 (AXIN2) Genes in Nonsyndromic Hypodontia

2019 ◽  
Vol 2019 ◽  
pp. 1-7 ◽  
Author(s):  
Krisztina Mártha ◽  
Bernadette Kerekes Máthé ◽  
Valeriu George Moldovan ◽  
Claudia Bănescu
Keyword(s):  
Environmental Factors ◽  
Genetic Background ◽  
Orthodontic Treatment ◽  
Statistical Significance ◽  
Nucleotide Polymorphisms ◽  
Inhibitor Protein ◽  
Single Nucleotide ◽  
Variant Genotype ◽  
Genetic And Environmental Factors ◽  
Age And Sex

The etiology of hypodontia is complex, in which both genetic and environmental factors can be related. The main objective of our study was to contribute to elucidating the genetic background of nonsyndromic hypodontia (NSH). In this order, we selected 97 NSH subjects (70 females and 27 males) from patients referred to orthodontic treatment, and we matched to each NSH subject a control by age and sex. DNA was obtained from epithelial cells from the oral mucosa. Genotyping of the PAX9 (rs4904155 and rs61754301), MSX1 (rs8670 and rs12532), and AXIN2 (rs2240308) SNPs was performed by using TaqMan SNP Genotyping Assays on a real-time PCR system. Single-nucleotide polymorphisms (SNPs) were studied for the whole NSH group and for frontal and lateral agenesis NSH subjects separately. Our results showed that the variant genotype (p=0.0008, OR = 2.9, 95% CI = 1.58–5.3) and variant T allele (p=0.0002, OR = 2.65, 95% CI = 1.6–4.39) of the MSX1 rs8670 SNP increased the risk of hypodontia in the studied population when the whole NSH group was compared with controls. The variant genotype of the MSX1 rs8670 SNP was the most frequent in frontal agenesis; meanwhile in the lateral agenesis NSH group, the AXIN2 rs2240308 SNP showed a higher frequency of the variant genotype, with a trend towards statistical significance. In conclusion, the results of the present study showed that the variant genotype and variant T allele of the MSX1 rs8670 SNP increased the risk of hypodontia in the studied population. The presence of the variant A allele of AXIN2 rs2240308 is associated with frontal agenesis but not with lateral agenesis.

scholarly journals Association of ENAM, TUFT1, MMP13, IL1B, IL10 and IL1RN gene polymorphism and dental caries susceptibility in Chinese children

2019 ◽  
Vol 47 (4) ◽  
pp. 1696-1704 ◽  
Author(s):  
Xiao-Pan Hu ◽  
Tian-Zhu Song ◽  
Yan-Yan Zhu ◽  
Ling-Li Wu ◽  
Xuan Zhang ◽  
...  
Keyword(s):  
Dental Caries ◽  
Interleukin 1 ◽  
Saliva Sample ◽  
Northwest China ◽  
Interleukin 10 ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Dental Caries Susceptibility ◽  
Matrix Metallopeptidase

Objective To investigate the association between single nucleotide polymorphisms (SNPs) in six candidate genes (enamelin [ ENAM]; tuftelin 1 [ TUFT1]; matrix metallopeptidase 13 [ MMP13]; interleukin 1 beta [ IL1B]; interleukin 10 [ IL10]; interleukin 1 receptor antagonist [ IL1RN]) and dental caries in children from northwest China. Methods This case–control study enrolled children (12–15 years) who underwent routine dental examinations. The children were divided into two groups based on the presence of dental caries. A saliva sample was collected and seven SNPs (rs3806804A/G in ENAM, rs3811411T/G in TUFT1, rs2252070A/G and rs597315A/T in MMP13, rs1143627C/T in IL1B, rs1800872A/C in IL10 and rs956730G/A in IL1RN) were genotyped. Results A total of 357 children were enrolled in the study: 161 with dental caries and 196 without dental caries. No significant difference was found in the alleles and genotypes of five genes ( ENAM, TUFT1, MMP13, IL10 and IL1RN) between those with and without dental caries. A significant relationship was found between the IL1B rs1143627C/T polymorphism and dental caries susceptibility with those carrying the rs1143627CT genotype having a lower risk of dental caries compared with those carrying the CC genotype (odds ratio 0.557; 95% confidence interval 0.326, 0.952). Conclusion The IL1B rs1143627C/T polymorphism may be associated with dental caries susceptibility in children from northwest China.

Association of Gem-associated protein 4 gene polymorphisms with the risk of colorectal cancer in the Polish population

2021 ◽  
Vol 93 (SUPLEMENT) ◽  
pp. 1-5
Author(s):  
Adrianna Cieslak ◽  
Grzegorz Galita ◽  
Michał Mik ◽  
Łukasz Dziki ◽  
Adam Dziki ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Confidence Interval ◽  
Odds Ratio ◽  
Haplotype Analysis ◽  
Mirna Biogenesis ◽  
Gene Variants ◽  
Ratio Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Variant Genotype

Aim: Gem-associated protein 4 (GEMIN4), a member of the GEMIN gene family, is a key compound of the regulating factors responsible for miRNA biogenesis. Genetic variability within this gene can alter the risk for development of colorectal cancer (CRC) as was shown for other genes involved in miRNA biogenesis. Therefore, presented study was intended to identify genetic variants of three single nucleotide polymorphisms (SNPs) in the GEMIN4 gene (rs1062923, rs2740348 and rs910925) and their relationship with CRC. Methods: The study comprised 203 patients and 179 age and sex matched controls. Genotyping of GEMIN4 gene variants was done using Taqman® assay. The association of GEMIN4 variants with CRC was done by odds ratio analysis. Haplotype analysis was done to see the combined effect of studied variants on CRC. Results: Patients carrying all variant genotypes for GEMIN4 rs1062923 (odds ratio [OR]= 0.205; 95% confidence interval [CI]= 0.1034-0.4065 for CC variant and [OR] = 0.1436; [CI] = 0.0869-0.2373 for CT variant, respectively) and GEMIN4 rs2740348 (odds ratio [OR]= 0.4498; 95% confidence interval [CI]= 0.2342-0.8637for CC variant and [OR] = 0.3986; [CI] = 0.2043-0.7776 for CG variant, respectively) showed significant association in lower occurrence of cancer, whereas in case of GEMIN4 G/C rs910925 variant genotype, no significance correlation was found. Conclusions: Our study gives a substantive support for the association between the GEMIN4 gene variants/miRNA biogenesis and CRC risk.

Polymorphisms in the PRTOR gene in relation to gastric adenocarcinoma susceptibility in an Eastern Chinese population.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e15552-e15552
Author(s):  
Meng-Yun Wang ◽  
Ming Jia ◽  
Jing He ◽  
Qing-Yi Wei
Keyword(s):  
Gastric Cancer ◽  
Odds Ratio ◽  
Chinese Population ◽  
Adjusted Odds Ratio ◽  
Mrna Level ◽  
Nucleotide Polymorphisms ◽  
Gastric Cancer Risk ◽  
Single Nucleotide ◽  
Variant Genotype ◽  
Never Smokers

e15552 Background: RPTOR is an essential scaffold for MTOR complex which is necessary for the MTOR-catalyzed phosphorylation. Methods: In this study of 1,100 gastric cancer (GCa) cases and 1,137 matched cancer-free controls, we investigated associations between eight potentially functional single nucleotide polymorphisms (SNPs) (rs3751934 C > A, rs1062935 T > C, rs12602885 G > A, rs1468032 T > A, rs1468033 A > G, rs2271610 C > G, rs2271612 C > T, and rs2878052 G > A) in RPTOR and gastric cancer risk in an Eastern Chinese Population. Results: In logistic regression analysis, a significantly increased GCa risk was associated with the rs1468032 AA variant genotype (adjusted odds ratio [OR] = 1.32, 95% confidence interval [CI] = 1.09-1.60) under a dominant model, which remained significant after correction by the false-positive reporting probability. This risk was more evident in subgroups of younger subjects, females, never smokers, never drinkers, cancers of non-cardia and stage of Ⅲ+Ⅳ. We then performed SNP-mRNA expression correlation analysis in GTEx database as well as using real-time PCR in adjacent noncancerous tissues. We found that the AA variant genotype was associated with non-significantly decreased expression of RPTOR mRNA level. Conclusions: Our results suggest that the RPTOR rs1468032 A variant may be markers for GCa susceptibility. Larger, independent studies are warranted to validate our findings.

scholarly journals Biomarkers for Lifetime Caries-Free Status

2020 ◽  
Vol 11 (1) ◽  
pp. 23
Author(s):  
Ariana M. Kelly ◽  
Mariana Bezamat ◽  
Adriana Modesto ◽  
Alexandre R. Vieira
Keyword(s):  
Genetic Variation ◽  
Dental Caries ◽  
Protective Effect ◽  
Permanent Teeth ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Interacting Protein ◽  
Mandibular Molars ◽  
Matrix Metallopeptidase ◽  
Free Status

The purpose of this study was to address the hypothesis that extreme outcomes of dental caries, such as edentulism or prematurely losing permanent teeth are associated with genetic variation in enamel-formation genes. After scanning 6206 individuals, samples of 330 were selected for this study. Tested phenotypes included patients who were edentulous by age 30, patients with missing first molars by age 30, patients with missing second molars by age 30, and caries-free patients. Fourteen single nucleotide polymorphisms were genotyped by TaqMan chemistry. The analyses of each phenotype were performed using the software PLINK with an alpha of 0.05. Nominal associations were found between rs12640848 in enamelin (p = 0.05), rs1784418 in matrix metallopeptidase 20 (p = 0.02), and rs5997096 in the tuftelin interacting protein 11 and being caries-free at the age of 60. When combining patients that were missing both first mandibular molars and missing both second mandibular molars, no associations were found. Matrix metallopeptidase 20, and tuftelin interacting protein 11 also showed trends for association with being caries-free. Genetic variation in TFIP11, MMP20, and ENAM may have a protective effect increasing the chances of individuals preserving their teeth caries-free over a lifetime.

scholarly journals HMGB1 gene polymorphism is associated with coronary artery lesions and intravenous immunoglobulin resistance in Kawasaki disease

Rheumatology ◽  
2018 ◽  
Vol 58 (5) ◽  
pp. 770-775 ◽  
Author(s):  
Jong Gyun Ahn ◽  
Yoonsun Bae ◽  
Dongjik Shin ◽  
Jiho Nam ◽  
Kyu Yeun Kim ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Kawasaki Disease ◽  
Single Nucleotide Polymorphisms ◽  
Odds Ratio ◽  
Ivig Treatment ◽  
Nucleotide Polymorphisms ◽  
Coronary Artery Lesions ◽  
Hmgb1 Level ◽  
Single Nucleotide ◽  
Ivig Resistance

Abstract Objectives Kawasaki disease (KD) is an acute systemic vasculitis of unknown aetiology that affects infants and young children. Recent reports of elevated serum high mobility group box 1 (HMGB1) level during the acute phase of KD and its relationship to poor response to IVIG treatment suggest a possible association of HMGB1 polymorphisms with KD. We investigated the association between the polymorphisms of the HMGB1 gene, KD susceptibility, coronary artery lesions, and KD response to IVIG treatment. Methods Whole genome sequencing of the HMGB1 gene was performed to identify causative variants. Two tagging single nucleotide polymorphisms of the HMGB1 gene were selected using linkage disequilibrium analysis. The tagging single nucleotide polymorphisms were genotyped using the TaqMan Allelic Discrimination assay in a total of 468 subjects (265 KD patients and 203 controls). Results The HMGB1 single nucleotide polymorphisms were not associated with KD susceptibility. However, in KD patients, there was a significant association of rs1412125 with coronary artery lesions formation in the recessive model (GG vs AA + GA: odds ratio = 4.98, 95% CI = 1.69–14.66, P = 0.005). In addition, rs1412125 was associated with IVIG resistance in the recessive (GG vs AA + GA: odds ratio = 4.11, 95% CI = 1.38–12.23, P = 0.017) and allelic models (G vs A: odds ratio = 1.80, 95% CI = 1.06–3.06, P = 0.027). Conclusion The rs1412125 in HMGB1 might be a risk factor for the development of coronary artery lesions and IVIG resistance in KD patients.

scholarly journals Multicenter Study on Differential Human Neutrophil Antigen 2 Expression and Underlying Molecular Mechanisms

2020 ◽  
Vol 47 (5) ◽  
pp. 385-395
Author(s):  
Brigitte K. Flesch ◽  
Angelika Reil ◽  
Núria Nogués ◽  
Carme Canals ◽  
Peter Bugert ◽  
...  
Keyword(s):  
Expression Pattern ◽  
Human Neutrophil ◽  
Molecular Mechanisms ◽  
Normal Population ◽  
Regulatory Elements ◽  
Population Exposure ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Immune Neutropenia ◽  
The Impact

Background: The human neutrophil antigen 2 (HNA-2), which is expressed on CD177, is undetectable in 3–5% of the normal population. Exposure of these HNA-2null individuals to HNA-2-positive cells can cause immunization and pro­duction of HNA-2 antibodies, which can induce immune neutropenia and transfusion-related acute lung injury. In HNA-2-positive individuals, neutrophils are divided into a CD177pos. and a CD177neg. subpopulation. The molecular background of HNA-2 deficiency and the bimodal expression pattern, however, are not completely decoded. Study Design: An international collaboration was conducted on the genetic analysis of HNA-2-phenotyped blood samples, including HNA-2-deficient individuals, mothers, and the respective children with neonatal immune neutropenia and regular blood donors. Results: From a total of 54 HNA-2null individuals, 43 were homozygous for the CD177*787A>T substitution. Six carried the CD177*c.1291G>A single nucleotide polymorphism. All HNA-2-positive samples with >40% CD177pos. neutrophils carried the *787A wild-type allele, whereas a lower rate of CD177pos. neutrophils was preferentially associated with *c.787AT heterozygosity. Interestingly, only the *c.787A allele sequence was detected in complementary DNA (cDNA) sequence analysis carried out on all *c.787AT heterozygous individuals. However, cDNA analysis after sorting of CD177pos. and CD177neg. neutrophil subsets from HNA-2-positive individuals showed identical sequences, which makes regulatory elements within the promoter unlikely to affect CD177 gene transcription in different CD177 neutrophil subsets. Conclusion: This comprehensive study clearly demonstrates the impact of single nucleotide polymorphisms on the expression of HNA-2 on the neutrophil surface but challenges the hypothesis of regulatory epigenetic effects being implicated in the bimodal CD177 expression pattern.

scholarly journals The Effect of Haplotypes in the CETP and LIPC Genes on the Triglycerides to HDL-C Ratio and Its Components in the Roma and Hungarian General Populations

Genes ◽  
2020 ◽  
Vol 11 (1) ◽  
pp. 56 ◽  
Author(s):  
Peter Piko ◽  
Szilvia Fiatal ◽  
Nardos Abebe Werissa ◽  
Bayu Begashaw Bekele ◽  
Gabor Racz ◽  
...  
Keyword(s):  
Cardiovascular Diseases ◽  
Odds Ratio ◽  
Hepatic Lipase ◽  
Density Lipoprotein ◽  
Hdl Cholesterol ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Roma Population ◽  
Transfer Protein ◽  
General Populations

Background: The triglycerides (TG) to high-density lipoprotein (HDL)-cholesterol (HDL-C) ratio (TG/HDL-C) is a well-known predictor for cardiovascular diseases (CVDs) with great heritability background. The cholesteryl ester transfer protein (CETP) and hepatic lipase (LIPC) gene affect TG/HDL-C ratio. This study aims to explore the association between haplotypes (H) in CETP (based on 5 single nucleotide polymorphisms (SNPs)) and LIPC (based on 6 SNPs) genes and the TG/HDL-C ratio and its components, among Roma and Hungarian general populations. Methods: The prevalence of haplotypes and their effect on HDL-C, TG and TG/HDL-C ratio were calculated in both populations and compared. Results: Ten haplotypes in CETP and 6 in LIPC gene were identified. Three haplotypes in CETP and 3 in LIPC have significant effect on HDL-C level, whereas two in CETP and 3 in LIPC on TG level. The H6 in CETP (β = 0.52, p = 0.015; odds ratio (OR) = 1.87, p = 0.009) and H5 in LIPC (β = 0.56, p < 0.001; OR = 1.51, p = 0.002) have a significant increasing effect on TG/HDL-C ratio and have shown higher prevalence among the Roma, as compared to Hungarian general population. The H2 in the CETP gene has a decreasing effect on the TG/HDL-C ratio (OR = 0.58, p = 0.019) and is significantly less frequent among the Roma. Conclusions: Accumulation of harmful haplotypes in CETP and LIPC genes might have a role in the elevated TG/HDL-C ratio in the Roma population, which contributes to a higher risk in the development of cardiovascular diseases.

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