scholarly journals The Association between ABCB1 C1236T/C3435T SNPs and H. pylori Infection among Jordanians

Genes ◽  
2020 ◽  
Vol 11 (1) ◽  
pp. 63 ◽  
Author(s):  
Mohammed N. BaniHani ◽  
Omar F. Khabour ◽  
Karem H. Alzoubi ◽  
Nabil A. Bashir ◽  
Muhamad Ali K. Shakhatreh ◽  
...  
Keyword(s):  
Helicobacter Pylori ◽  
Odds Ratio ◽  
Haplotype Analysis ◽  
Nucleotide Polymorphisms ◽  
Abcb1 Gene ◽  
Single Nucleotide ◽  
Worldwide Population ◽  
H Pylori ◽  
Negative Controls ◽  
Pcr Techniques

Infection with Helicobacter pylori (H. pylori) is very common and affecting about 50% of the worldwide population. Several genetic variations have been implicated in determining the clinical susceptibility to this infection. In the current study, we examined the association between C1236T (rs1045642) and C3435T (rs1045642) single nucleotide polymorphisms (SNPs) in the ABCB1 gene and the prevalence of H. pylori infection among Jordanians. A total of 412 subjects (257 H. pylori-positive cases and 155 H. pylori-negative controls) were recruited and participated in the study, and the genotyping of the ABCB1 gene was performed using RFLP-PCR techniques. A significant association was detected between C1236T and H. pylori infection (p < 0.01). The frequency of CT genotype was significantly higher in the positive cases (40.1%) compared to the controls (21.3%). In addition, the C3435T SNP was weakly associated with H. pylori infection (p = 0.077). Haplotype analysis of C1236T and C3435T SNPs showed that the TT haplotype was present in 22.7% of the positive cases compared to 30.7% of the negative controls (p < 0.05, odds ratio = 0.663, 95% CI: (0.483–0.911)). Consequently, the TT haplotype seems to decrease the risk of H. pylori infection. In conclusion, the current results suggest an association between ABCB1 SNPs and H. pylori infection in the Jordanian population.

scholarly journals Influence of COL9A1 and COL19A1 Polymorphisms on Kaschin-Beck Disease Risk

2020 ◽  
Author(s):  
Xue He ◽  
Jianwen Zheng ◽  
Dongya Yuan ◽  
Yuhe Wang ◽  
Yongjun He ◽  
...  
Keyword(s):  
Odds Ratio ◽  
Logistic Regression Model ◽  
Haplotype Analysis ◽  
Disease Risk ◽  
Recessive Model ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Frequency Distributions ◽  
Beck Disease

Abstract Objective We aimed to determine whether COL9A1 and COL19A1 polymorphisms were associated with Kaschin-Beck disease (KBD) risk. Methods Five single nucleotide polymorphisms (SNPs) in COL9A1 and COL19A1 were genotyped in 316 KBD patients and 320 healthy controls using the Agena MassARRAY platform. The association between genetic polymorphisms ( COL9A1 : rs3806093, rs603410 and rs621347; COL19A1 : rs9346371 and rs555313) and KBD risk were assessed using logistic regression model by calculating odds ratio (OR) and 95% confidence interval (CI). Results After adjustment with age and sex, the frequency distributions of genotypes in rs3806093 and rs9346371 were significantly different between cases and controls. COL9A1 rs3806093 significantly increased KBD risk in co-dominant (OR = 14.80, 95%CI = 1.42-154.80, p = 0.024) and recessive (OR = 16.39, 95%CI = 1.60-168.20, p = 0.019) models. Meanwhile, COL9A1 rs555313 was associated with KBD risk in recessive model (OR = 3.80, 95%CI = 1.01-14.27, p = 0.048). In addition, haplotype analysis revealed two blocks (block 1: rs3806093, rs603410 and rs621347; block 2: rs9346371 and rs555313). Conclusion COL9A1 and COL19A1 polymorphisms were associated with KBD risk in the Chinese Han population, suggesting roles of COL9A1 and COL19A1 in the development of KBD.

scholarly journals The association of polymorphisms in lncRNA-H19 with hepatocellular cancer risk and prognosis

2018 ◽  
Vol 38 (5) ◽  
Author(s):  
Ming-li Yang ◽  
Zhe Huang ◽  
Qian Wang ◽  
Huan-huan Chen ◽  
Sai-nan Ma ◽  
...  
Keyword(s):  
Odds Ratio ◽  
Hazard Rate ◽  
Poor Prognosis ◽  
Haplotype Analysis ◽  
Hepatocellular Cancer ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
H19 Gene ◽  
Stratified Analysis ◽  
Related Mortality

Hepatocellular cancer (HCC) is one of the major causes of cancer-related mortality. Genetic polymorphisms may affect the susceptibility and clinical outcomes of cancers. We aim to manifest the association of single nucleotide polymorphisms (SNPs) of lncRNA-H19 gene with the risk and prognosis of HCC. A total of 944 samples composed of 472 HCC patients and 472 matched controls were included in the risk analysis and amongst them 350 HCC samples were investigated in the prognosis analysis. KASP method was conducted for the SNP genotyping. The TT + CT genotype of rs2839698 was found to be associated with a 1.32-fold increased HCC risk (P=0.037, 95% confidence interval (CI) = 1.02–1.70). In the stratified analysis, rs2839698 (odds ratio (OR) = 1.57, P=0.007, 95% CI = 1.13–2.18) and rs3024270 (OR = 1.71, P=0.019, 95% CI = 1.09–2.68) were found to show more obvious increased HCC risk in the age ≤60 subgroup. And we found that rs2839698 showed an increased HCC risk in the ever smoking subgroup. But in the male subgroup of rs2735971, it showed a decreased HCC risk. Furthermore, haplotype analysis showed that rs2735971-rs2839698-rs3024270 G-T-C significantly increased the risk of HCC (OR = 1.23, 95% CI = 1.01–1.51, P=0.043). Multilogistic analysis revealed no significant results of the interaction effects of the SNPs and environment factors. And in our study, rs2839698 showed a significant poor prognosis in the ever smoking subgroup (hazard rate (HR) = 5.19, 95% CI = 1.12–24.07, P=0.035). lncRNA-H19 rs2839698 SNP has the potential to be predictors for HCC risk and prognosis.

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.

scholarly journals Association of TLR4 Polymorphisms, Expression, and Vitamin D with Helicobacter pylori Infection

2019 ◽  
Vol 9 (1) ◽  
pp. 2 ◽  
Author(s):  
Shafika Assaad ◽  
Christy Costanian ◽  
Lama Jaffal ◽  
Fida Tannous ◽  
Maria G. Stathopoulou ◽  
...  
Keyword(s):  
Vitamin D ◽  
Helicobacter Pylori ◽  
Gastric Adenocarcinoma ◽  
White Blood Cells ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Negatively Associated ◽  
H Pylori ◽  
Further Development ◽  
Control Study

Helicobacter pylori (H. pylori) infection is the strongest recognized risk factor for gastric adenocarcinoma. Since previous observations have shown that polymorphisms in innate immune system genes, as well as vitamin D (VitD) levels, could modify the risk of infection with Helicobacter pylori (H. pylori), we analyzed the relation between single nucleotide polymorphisms (SNPs) in TLRs (TLR1, TLR2, TLR4) CD14, RUNX3 and VitD levels with H. pylori infection. A case-control study on four hundred sixty Lebanese individuals was conducted. Eleven SNPs in total were genotyped and gene expression analysis using real-time PCR was performed in white blood cells of a subsample of eight individuals. A total of 49% of the participants were affected. Although no direct association was found between the SNPs and H. pylori infection, rs4986790G>A and rs4986791T>C in TLR4 were negatively associated with VitD levels (β = −0.371, p = 5 × 10−3 and β = −0.4, p = 2 × 10−3, respectively), which was negatively associated with H. pylori infection (OR = 0.01, p < 1 × 10−3). TLR4 expression was 3× lower in individuals with H. pylori compared with non-infected (p = 0.01). TLR4 polymorphisms, expression, and VitD could be implicated in H. pylori infection and further development of gastric adenocarcinoma.

scholarly journals Influence of COL9A1 and COL19A1 Polymorphisms on Kaschin-Beck Disease Risk

2019 ◽  
Author(s):  
Xue He ◽  
Jianwen Zheng ◽  
Dongya Yuan ◽  
Yuhe Wang ◽  
Yongjun He ◽  
...  
Keyword(s):  
Odds Ratio ◽  
Logistic Regression Model ◽  
Haplotype Analysis ◽  
Disease Risk ◽  
Recessive Model ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Frequency Distributions ◽  
Beck Disease

Abstract Objective We aimed to determine whether COL9A1 and COL19A1 polymorphisms were associated with Kaschin-Beck disease (KBD) risk.Methods Five single nucleotide polymorphisms (SNPs) in COL9A1 and COL19A1 were genotyped in 316 KBD patients and 320 healthy controls using the Agena MassARRAY platform. The association between genetic polymorphisms ( COL9A1 : rs3806093, rs603410 and rs621347; COL19A1 : rs9346371 and rs555313) and KBD risk were assessed using logistic regression model by calculating odds ratio (OR) and 95% confidence interval (CI).Results After adjustment with age and sex, the frequency distributions of genotypes in rs3806093 and rs9346371 were significantly different between cases and controls. COL9A1 rs3806093 significantly increased KBD risk in co-dominant (OR = 14.80, 95%CI = 1.42-154.80, p = 0.024) and recessive (OR = 16.39, 95%CI = 1.60-168.20, p = 0.019) models. Meanwhile, COL9A1 rs555313 was associated with KBD risk in recessive model (OR = 3.80, 95%CI = 1.01-14.27, p = 0.048). In addition, haplotype analysis revealed two blocks (block 1: rs3806093, rs603410 and rs621347; block 2: rs9346371 and rs555313).Conclusion COL9A1 and COL19A1 polymorphisms were associated with KBD risk in the Chinese Han population, suggesting roles of COL9A1 and COL19A1 in the development of KBD.

scholarly journals Nutrient Deficiency Promotes the Entry of Helicobacter pylori Cells into Candida Yeast Cells

Biology ◽  
2021 ◽  
Vol 10 (5) ◽  
pp. 426
Author(s):  
Kimberly Sánchez-Alonzo ◽  
Fabiola Silva-Mieres ◽  
Luciano Arellano-Arriagada ◽  
Cristian Parra-Sepúlveda ◽  
Humberto Bernasconi ◽  
...  
Keyword(s):  
Helicobacter Pylori ◽  
Nutrient Deficiency ◽  
Gastric Epithelium ◽  
Yeast Cells ◽  
Nutrient Concentrations ◽  
Fetal Bovine ◽  
H Pylori ◽  
Pcr Techniques ◽  
Strain Dependent

Helicobacter pylori, a Gram-negative bacterium, has as a natural niche the human gastric epithelium. This pathogen has been reported to enter into Candida yeast cells; however, factors triggering this endosymbiotic relationship remain unknown. The aim of this work was to evaluate in vitro if variations in nutrient concentration in the cultured medium trigger the internalization of H. pylori within Candida cells. We used H. pylori–Candida co-cultures in Brucella broth supplemented with 1%, 5% or 20% fetal bovine serum or in saline solution. Intra-yeast bacteria-like bodies (BLBs) were observed using optical microscopy, while intra-yeast BLBs were identified as H. pylori using FISH and PCR techniques. Intra-yeast H. pylori (BLBs) viability was confirmed using the LIVE/DEAD BacLight Bacterial Viability kit. Intra-yeast H. pylori was present in all combinations of bacteria–yeast strains co-cultured. However, the percentages of yeast cells harboring bacteria (Y-BLBs) varied according to nutrient concentrations and also were strain-dependent. In conclusion, reduced nutrients stresses H. pylori, promoting its entry into Candida cells. The starvation of both H. pylori and Candida strains reduced the percentages of Y-BLBs, suggesting that starving yeast cells may be less capable of harboring stressed H. pylori cells. Moreover, the endosymbiotic relationship between H. pylori and Candida is dependent on the strains co-cultured.

Host TNF-alpha-1031 and -863 Promoter Single Nucleotide Polymorphisms Determine the Risk of Benign Ulceration after H. pylori Infection

2005 ◽  
Vol 100 (6) ◽  
pp. 1274-1282 ◽  
Author(s):  
Cheng-Chan Lu ◽  
Bor-Shyang Sheu ◽  
Ten-Wen Chen ◽  
Hsiao-Bai Yang ◽  
Kuey-Hsian Hung ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Tnf Alpha ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
H Pylori

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 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.

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