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.

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 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 Association of Sex Determining Region Y-Box 17 Gene Polymorphisms and Intracranial Aneurysm: A Case-Control Study and Meta-analysis

Neurosurgery ◽  
2019 ◽  
Vol 66 (Supplement_1) ◽  
Author(s):  
Museung Park ◽  
Yong-Jun Cho ◽  
Jin Sue Jeon
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Confidence Interval ◽  
Odds Ratio ◽  
Gene Polymorphisms ◽  
Meta Analysis ◽  
East Asian ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Unruptured Aneurysms ◽  
Asian Populations

Abstract INTRODUCTION Genome-wide association studies have revealed an association between SRY (Sex Determining Region Y)-box 17 (SOX17) gene and intracranial aneurysm (IA) formation. However, results were mainly derived from European and Japanese populations. We investigated the association between SOX17 gene polymorphisms and IA in a homogeneous Korean population. We performed a meta-analysis to assess these results in East-Asian populations. METHODS This cross-sectional study included 187 age- and sex-matched patients with IA and 372 control subjects. Genetic association analysis was performed in the generalized linear model to identify associations between 4 single nucleotide polymorphisms and IA, including 95 patients with ruptured aneurysms and 92 with unruptured aneurysms. The East-Asian meta-analysis of 5100 IA cases and 7930 control cases was conducted under an inverse variance model. RESULTS Among 4 single nucleotide polymorphisms that passed quality control tests, the minor C allele of rs1072737 was significantly associated with IA (odds ratio 0.69, 95% confidence interval 0.49-0.96, P = .03). None of the 4 single nucleotide polymorphisms showed a significant association between patients with ruptured and unruptured aneurysms. Meta-analysis revealed that G alleles of rs10958409 and rs9298506 were significantly associated with IA in the East-Asian population after removing study heterogeneity (odds ratio 1.11, 95% confidence interval 1.04-1.19, P = .0023 and odds ratio 1.19, 95% confidence interval 1.07-1.32, P = .0016). CONCLUSION Identification of genetic variants located near SOX17 is likely to be clinically significant for IA formation. rs10958409 and rs9298506 may increase risk of IA in East-Asian populations. Our findings may help in the identification of IA pathogenesis.

scholarly journals Coagulation Factors and the Risk of Ischemic Heart Disease

2018 ◽  
Vol 11 (1) ◽  
Author(s):  
Jie V. Zhao ◽  
C. Mary Schooling
Keyword(s):  
Heart Disease ◽  
Single Nucleotide Polymorphisms ◽  
Confidence Interval ◽  
Ischemic Heart Disease ◽  
Plasminogen Activator ◽  
Odds Ratio ◽  
Coagulation Factors ◽  
Ischemic Heart ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

Background: Coagulation plays a role in ischemic heart disease (IHD). However, which coagulation factors are targets of intervention is unclear. We assessed how genetically predicted vWF (von Willebrand factor), ETP (endogenous thrombin potential), FVIII (factor VIII), d -dimer, tPA (tissue-type plasminogen activator), and PAI (plasminogen activator inhibitor)-1 affected IHD. We similarly estimated effects on lipids to determine whether any associations were independent of lipids. Methods and Results: Separate sample instrumental variable analysis with genetic instruments, that is, Mendelian randomization, was used to obtain unconfounded estimates of effects on IHD using extensively genotyped studies of coronary artery disease/myocardial infarction, CARDIoGRAMplusC4D Metabochip (64 374 cases, 130 681 controls) and CARDIoGRAMplusC4D 1000 Genomes (60 801 cases, 123 504 controls), and on lipids using the Global Lipids Genetics Consortium Results (n=196 475). Genetically predicted ETP was positively associated with IHD (odds ratio, 1.05 per log-transformed SD; 95% confidence interval, 1.03–1.07) based on 15 single-nucleotide polymorphisms, as were vWF (odds ratio, 1.05 per SD; 95% confidence interval, 1.02–1.08) and FVIII (odds ratio, 1.06 per SD; 95% confidence interval, 1.03–1.09) based on 16 and 6 single-nucleotide polymorphisms, respectively, but the latter associations were null after considering pleiotropy. vWF and FVIII were associated with higher LDL (low-density lipoprotein) cholesterol, but not after considering pleiotropy. Genetically predicted d -dimer, tPA, and PAI-1 were not clearly associated with IHD or lipids based on 3, 3, and 5 single-nucleotide polymorphisms, respectively. Conclusions: ETP may affect IHD. Assessing the role of its drivers in more precisely phenotyped studies of IHD could be worthwhile.

scholarly journals Genetic Association Study of Endothelin-1 and Its Receptors EDNRA and EDNRB in Migraine with Aura

Cephalalgia ◽  
2009 ◽  
Vol 29 (11) ◽  
pp. 1224-1231 ◽  
Author(s):  
P Tikka-Kleemola ◽  
MA Kaunisto ◽  
E Hämäläinen ◽  
U Todt ◽  
H Göbel ◽  
...  
Keyword(s):  
Confidence Interval ◽  
Migraine With Aura ◽  
Odds Ratio ◽  
Genetic Association Study ◽  
Age Of Onset ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Endothelin 1 ◽  
Genotype 5 ◽  
Pooled Sample

The effect of endothelin-1 and its receptors EDNRA and EDNRB in migraine with aura (MA) susceptibility is not established yet. We studied the association between the MA end-diagnosis and three migraine trait components and 32 single nucleotide polymorphisms (SNPs) capturing the variation of endothelin genes in 850 Finnish migraine patients and 890 non-migrainous individuals. The SNPs showing evidence of association were further studied in 648 German migraine patients and 651 non-migrainous individuals. No significant association was detected. However, the homozygous minor genotype (5% in cases) of the EDNRA SNP rs2048894 showed nominal association with MA both in the Finnish sample ( P = 0.015) and in the pooled sample [odds ratio (OR) 1.61, 95% confidence interval (CI) 1.12-2.32, P = 0.010] when adjusted for gender and sample origin. The trait age of onset < 20 years was also associated with rs2048894 (OR 1.69, 95% CI 1.13-2.54, P = 0.011) in the pooled sample. To confirm this finding studies on even larger samples are required.

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.

scholarly journals Polygenic Risk Score for Coronary Heart Disease Modifies the Elevated Risk by Cigarette Smoking for Disease Incidence

2018 ◽  
Vol 11 (1) ◽  
Author(s):  
George Hindy ◽  
Frans Wiberg ◽  
Peter Almgren ◽  
Olle Melander ◽  
Marju Orho-Melander
Keyword(s):  
Coronary Heart Disease ◽  
Heart Disease ◽  
Confidence Interval ◽  
Odds Ratio ◽  
Risk Category ◽  
Polygenic Risk Score ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Polygenic Risk ◽  
Never Smokers

Background: Coronary heart disease (CHD) is a multifactorial disease with both genetic and environmental components. Smoking is the most important modifiable risk factor for CHD. Our aim was to test whether the increased CHD incidence by smoking is modified by genetic predisposition to CHD. Methods and Results: Our study included 24 443 individuals from the MDCS (Malmö Diet and Cancer Study). A weighted polygenic risk score (PRS) was created by summing the number of risk alleles for 50 single-nucleotide polymorphisms associated with CHD. Individuals were classified as current, former, or never smokers. Interactions were primarily tested between smoking status and PRS and secondarily with individual single-nucleotide polymorphisms. Then, the predictive use of PRS for CHD incidence was tested among different smoking categories. During a median follow-up time of 19.4 years, 3217 incident CHD cases were recorded. The association between smoking and CHD was modified by the PRS ( P interaction =0.005). The magnitude of increased incidence of CHD by smoking was highest among individuals in the lowest tertile of PRS (odds ratio, 1.42; 95% confidence interval, 1.29–1.56 per smoking risk category) compared with the highest tertile (odds ratio, 1.20; 95% confidence interval, 1.11–1.30 per smoking risk category). This interaction was stronger among men ( P interaction =0.001) compared with women ( P interaction =0.44). The PRS provided a significantly better net reclassification and discrimination on top of traditional risk factors among never smokers compared with current smokers ( P <0.001). Conclusions: Genetic predisposition to CHD modifies the associated increased CHD risk by smoking. The PRS has a better predictive use among never smokers compared with smokers.

scholarly journals Variants of SMAD1 gene increase the risk of colorectal cancer in the Bangladeshi population

Tumor Biology ◽  
2020 ◽  
Vol 42 (9) ◽  
pp. 101042832095895
Author(s):  
Priyanka Florina Karmokar ◽  
Samia Shabnaz ◽  
Md. Abdul Aziz ◽  
Md. Asaduzzaman ◽  
Mohammad Shahriar ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Risk ◽  
Confidence Interval ◽  
Odds Ratio ◽  
Adjusted Odds Ratio ◽  
Dominant Model ◽  
Bonferroni Correction ◽  
Heterozygous Genotype ◽  
Single Nucleotide ◽  
Bangladeshi Population

Colorectal cancer is the fourth most common type of malignancy worldwide that may develop due to the accumulation of several genetic variations. Different single nucleotide polymorphisms of SMAD1 gene are assumed to be linked with increased colorectal cancer risk. The current case-control study was conducted to verify the association of genetic polymorphisms of SMAD1 (rs11100883 and rs7661162) with colorectal cancer in the Bangladeshi population. This study was performed on 275 colorectal cancer patients and 300 healthy volunteers using polymerase chain reaction–restriction fragment length polymorphism method. The odds ratios were adjusted for age and sex with logistic regression analysis. In case of SMAD1 rs11100883 polymorphism, GA heterozygous genotype, GA + AA (dominant model), and minor allele “A” were significantly associated with colorectal cancer (adjusted odds ratio = 1.55, 95% confidence interval = 1.09–2.20, p = 0.014; adjusted odds ratio = 1.59, 95% confidence interval = 1.13–2.23, p = 0.008; and odds ratio = 1.35, 95% confidence interval = 1.06–1.73, p = 0.015, respectively) and the significance exists after the Bonferroni correction. Again, single nucleotide polymorphism rs7661162 showed significant association with an elevated colorectal cancer risk for AG heterozygous genotype, AG + GG (dominant model), AG versus AA + GG (overdominant model), and minor allele “G” (adjusted odds ratio = 1.78, 95% confidence interval = 1.24–2.56, p = 0.002; adjusted odds ratio = 1.68, 95% confidence interval = 1.18–2.39, p = 0.004; adjusted odds ratio = 1.76, 95% confidence interval = 1.23–2.53, p = 0.002; and odds ratio = 1.47, 95% confidence interval = 1.08–2.00, p = 0.014, respectively) and significance withstands after the Bonferroni correction. No significant age and gender differences between cases and controls were observed. In silico, gene expression analysis showed that the SMAD1 mRNA level was downregulated in the colon and rectal cancer tissues compared to healthy tissues. In conclusion, our findings indicate that SMAD1 rs11100883 and rs7661162 polymorphisms are responsible for increasing the susceptibility of colorectal cancer development in the Bangladeshi population.

Association of single-nucleotide polymorphisms of USP7 gene with breast cancer suscepbility in Chinese women.

2014 ◽  
Vol 32 (26_suppl) ◽  
pp. 27-27
Author(s):  
Huangang Jiang ◽  
Fuxiang Zhou ◽  
You Wang ◽  
Yuehua Wei ◽  
Hui Xu ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Confidence Interval ◽  
Odds Ratio ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Second Stage

27 Background: The tumor suppressor p53 pathway plays a crucial role in preventing carcinogenesis. It was reported that activity of p53 was regulated by USP7 (Ubiquitin Specific Peptidase 7) and TSPYL5 (Testis-specific Y-encoded-like protein 5). This study was carried out to assess the association between single nucleotide polymorphisms (SNPs) in P53, USP7, TSPYL5 genes and the breast cancer susceptibility in Chinese Han women. Methods: DNA was extracted from the peripheral blood samples of breast cancer patients and age-matched controls. In the first stage, tag SNPs of P53, USP7, and TSPYL5 genes were selected with Hapmap database and Haploview program. The matrix-assisted laser desorption/ionization time-of-flight mass spectrometry assay was used for genotyping. Then, two positive SNPs were determined by polymerase chain reaction- restricted fragment length polymorphisms assay (PCR-RFLP) in the second stage. The ethics committee of Zhongnan Hospital of Wuhan University authorized this study. Results: In the first stage, 23 SNPs were selected and detected in 192 cases and 192 controls. The results demonstrated that the distribution of genotype of rs12924995, rs2304467 in USP7 gene was different in cases and controls (p = 0.026, 0.037, respectively). In the second stage, these two SNPs were determined. A total of 975 cases and 910 controls enrolled in the present study. Hardy-Weinberg equilibrium of rs2304467 and rs12924995 in the control group was tested (p = 0.979, 0.111). Multivariate analysis showed that breast cancer risk of women with C allele (CC or CG genotype) increased (p < 0.001, odds ratio = 1.87, 95% confidence interval, 1.44-2.44), compared with rs2304467 GG carriers. Besides, women with rs12924995A allele (AA or AC genotype) had higher risk of breast cancer than those with CC genotype (P=0.002, odds ratio=1.36, 95% confidence interval, 1.21-1.65). Breast cancer risk of women carried rs2304467C allele and rs12924995A allele also increased (p < 0.001, odds ratio = 2.05, 95% confidence interval, 1.54-2.73). Conclusions: SNPs rs2304467 and rs12924995 in USP7 gene are associated with breast cancer susceptibility in Chinese Han women.

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.

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