scholarly journals An Association between Single Nucleotide Polymorphisms of Lys751GlnERCC2Gene and Ovarian Cancer in Polish Women

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Magdalena M. Michalska ◽  
Dariusz Samulak ◽  
Hanna Romanowicz ◽  
Maciej Sobkowski ◽  
Beata Smolarz
Keyword(s):  
Ovarian Cancer ◽  
Gene Polymorphism ◽  
Fragment Length Polymorphism ◽  
Nucleotide Polymorphisms ◽  
Histological Grading ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Lys751gln Polymorphism

Aim.The aim of this study was to evaluate the role of the Lys751Gln (rs13181)ERCC2gene polymorphism in clinical parameters and the risk for development of ovarian cancer.Material and Methods.The study consisted of 430 patients with ovarian cancer (mean age: 53.2 ± 10.11) and 430 healthy subjects (mean age: 50.31 ± 18.21). Analysis of the gene polymorphisms was performed using the PCR-based restriction fragment length polymorphism (PCR-RFLP). The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated.Results.The results obtained indicate that the genotype Gln/Gln is associated with an increased risk of ovarian cancer (OR 5.01; 95% CI 3.37–7.43;p<0.0001). Association of Lys751Gln polymorphism with histological grading showed increasedERCC2Gln/Gln (OR = 6.96; 95% CI 3.41–14.21;p<0.0001) genotype in grading 1 as well as Gln allele overrepresentation (OR = 4.98; 95% CI 3.37–7.40;p<0.0001) in G1 ovarian patients. Finally, with clinical FIGO staging under evaluation, an increase inERCC2Gln/Gln homozygote frequencies in staging I and Gln allele frequencies in SI were observed.Conclusion.On the basis of these results, we conclude thatERCC2gene polymorphism Lys751Gln may be associated with an increased risk of ovarian carcinoma.

Polymorphism of the ADRB2 gene as a predictor of preterm birth

2021 ◽  
Vol 20 (2) ◽  
pp. 5-12
Author(s):  
G.F. Proklova ◽  
◽  
E.A. Sokova ◽  
R.E. Kazakov ◽  
R.A. Chilova ◽  
...  
Keyword(s):  
Preterm Birth ◽  
Gene Polymorphism ◽  
Pregnant Women ◽  
Control Group ◽  
Missense Mutations ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Pcr Rflp ◽  
Adrb2 Gene

Tocolytic therapy with the use of β2-agonist hexoprenaline is used to prolong pregnancy. Polymorphisms of the ADRB2 gene can affect the efficacy and safety of this drug, including missense mutations associated with the Gly16Arg and Gln27Glu substitutions. Objective. To study the role of the ADRB2 gene polymorphism in preterm birth, as well as the efficiency and safety of tocolytic therapy with hexoprenaline. Patients and methods. 120 pregnant women were examined. The main group included 60 pregnant women who were at risk of preterm birth and to whom intravenous tocolytic therapy with hexoprenaline was performed. In the control group (n = 60), there was a woman whose pregnancy was not accompanied by the threat of preterm birth, and delivery itself was emergency and spontaneous. The identification of the Gly16Arg and Gln27Glu polymorphisms of the ADRB2 gene was carried out by the PCR-RFLP method. Results. In pregnant women with the threat of premature labor, the 16Arg allele (p = 0.028) was less common, and the 16Gly/Gly genotype (p = 0.027) of the ADRB2 gene was reliably more common. Adverse reactions to hexoprenaline occured in 53% of pregnant women: in 47%, it was tachycardia, in 6% – headache. Their incidence was not associated with the ADRB2 gene polymorphism. Conclusion. The effectiveness of hexoprenaline is lower in the carriers of genotypes indicating high or low expression of β2-adrenoreceptors. Key words: hexoprenaline, genotyping, single-nucleotide polymorphisms, preterm birth, tocolytic therapy, ADRB2

scholarly journals RAD51 and XRCC3 Polymorphisms Are Associated with Increased Risk of Prostate Cancer

2019 ◽  
Vol 2019 ◽  
pp. 1-8 ◽  
Author(s):  
Maria Nowacka-Zawisza ◽  
Agata Raszkiewicz ◽  
Tomasz Kwasiborski ◽  
Ewa Forma ◽  
Magdalena Bryś ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Dna Repair ◽  
Strand Break ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Dna Double Strand Break ◽  
Repair Efficiency ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Repair Genes

Genetic polymorphisms in DNA repair genes may affect DNA repair efficiency and may contribute to the risk of developing cancer. The aim of our study was to investigate single nucleotide polymorphisms (SNPs) in RAD51 (rs2619679, rs2928140, and rs5030789) and XRCC3 (rs1799796) involved in DNA double-strand break repair and their relationship to prostate cancer. The study group included 99 men diagnosed with prostate cancer and 205 cancer-free controls. SNP genotyping was performed using the PCR-RFLP method. A significant association was detected between RAD51 rs5030789 polymorphism and XRCC3 rs1799796 polymorphism and an increased risk of prostate cancer. Our results indicate that RAD51 and XRCC3 polymorphism may contribute to prostate cancer.

scholarly journals E2F1 genetic variants and risk of cervical cancer in Indian women

2018 ◽  
Vol 33 (4) ◽  
pp. 389-394 ◽  
Author(s):  
Sanjay Singh ◽  
Manish Gupta ◽  
Rajeev Kumar Seam ◽  
Harish Changotra
Keyword(s):  
Cervical Cancer ◽  
Cancer Risk ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Indian Women ◽  
Altered Expression ◽  
Cervical Cancer Risk ◽  
Genotype Frequencies ◽  
Pcr Rflp

Introduction: Altered expression of many E2F family members have been reported in various human cancers. In this study, we investigated the role of non-synonymous single nucleotide polymorphisms (rs3213172 C/T, rs3213173 C/T, and rs3213176 G/A) of the gene E2F1 with cervical cancer. Methods: A total of 181 samples including 90 cervical cancer patients and 91 healthy controls were genotyped. The genotype frequencies of these polymorphisms in collected samples were determined by either PCR-RFLP or PCR-ARFLP methods. SHEsis software was used to analyze the haplotypes. Results: Statistically significant differences in the alleles and the genotypes frequencies were observed in rs3213172 (C/T) and rs3213173 (C/T) polymorphisms. The rs3213172 (C/T) polymorphism was a risk factor for cervical cancer in dominant model (odds ratio (OR) 1.96; 95% confidence interval (CI) 1.07, 3.60; P = 0.02) and heterozygous model (OR 1.90; 95% CI 1.01, 3.57; P = 0.04). The rs3213173 (C/T) polymorphism increased the risk of cervical cancer in the homozygous model (OR 2.71; 95% CI 1.11, 6.58; P = 0.02). The rs3213176 (G/A) polymorphism was not associated with cervical cancer risk in any of the genotypic models. In the haplotypes analysis, three haplotypes (CTG, TCG, and TTA) were associated with the cervical cancer risk. Conclusions: These findings revealed that rs3213172 (C/T) and rs3213173 (C/T) polymorphisms and haplotypes (CTG, TCG, and TTA) of the E2F1 gene might play role in the susceptibility of cervical cancer. This is the first report showing an association of these polymorphisms with the cervical cancer risk.

scholarly journals A Protocol for Rapid and Inexpensive Genotyping of Mutant Mice from Dried Blood Spots: An Update

2021 ◽  
Author(s):  
Antonella Romano ◽  
Candida Zuchegna ◽  
Giuseppa Zannini ◽  
Roberta Grillo ◽  
Samantha Messina ◽  
...  
Keyword(s):  
Dna Extraction ◽  
Genomic Dna ◽  
Fragment Length Polymorphism ◽  
Dna Amplification ◽  
Dried Blood Spots ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Sensitivity Specificity

Abstract Background: Dried blood spot (DBS) testing is a well-known method of bio-sampling by which blood samples are blotted and dried on filter paper. The dried samples can then be analyzed by several techniques such as DNA amplification and HPLC. We have developed a homemade DBS method followed by an alternative protocol for genomic DNA extraction from a drop of blood adsorbed on paper support. This protocol consists of two separate steps: (1) organic DNA extraction from the DBS, followed by (2) DNA amplification by polymerase chain reaction (PCR). The PCR-restriction fragment length polymorphism (PCR-RFLP) is an advantageous and simple approach to detect single nucleotide polymorphisms (SNPs). Results: We have evaluated the efficiency of our method for the extraction of genomic DNA from DBS by testing its performance in genotyping mouse models of obesity and herein discuss the sensitivity, specificity and feasibility of this novel procedure. Conclusions: Our protocol is easy to perform, fast and inexpensive and allows the isolation of pure DNA from a miniscule amount of sample.

scholarly journals MassArray analysis of genomic susceptibility variants in ovarian cancer

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Sonali Verma ◽  
Indu Sharma ◽  
Varun Sharma ◽  
Amrita Bhat ◽  
Ruchi Shah ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Odds Ratio ◽  
Gene Interaction ◽  
P Value ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Jammu And Kashmir ◽  
Interactive Analysis ◽  
Strong Existence

AbstractOvarian cancer (OC), a multifaceted and genetically heterogeneous malignancy is one of the most common cancers among women. The aim of the study is to unravel the genetic factors associated with OC and the extent of genetic heterogeneity in the populations of Jammu and Kashmir (J&K).Using the high throughput Agena MassARRAY platform, present case control study was designed which comprises 200 histopathological confirmed OC patients and 400 age and ethnicity matched healthy controls to ascertain the association of previously reported eleven single nucleotide polymorphisms (SNPs) spread over ten genes (DNMT3A, PIK3CA, FGFR2, GSTP1, ERCC5, AKT1, CASC16, CYP19A1, BCL2 and ERCC1) within the OC population of Jammu and Kashmir, India. The association of each variant was estimated using logistic regression analyses. Out of the 11 SNPs the odds ratio observed for three SNPs; rs2699887 was (1.72 at 95% CI: 1.19–2.48, p = 0.004), rs1695 was (1.87 at 95% CI: 1.28–2.71, p = 0.001), and rs2298881 was (0.66 at 95% CI: 0.46–0.96, p = 0.03) were found significantly associated with the OC after correction with confounding factors i.e. age & BMI. Furthermore, the estimation of interactive analyses was performed and odds ratio observed was 2.44 (1.72–3.47), p value < 0. 001 suggests that there was a strong existence of interplay between the selected genetic variants in OC, which demonstrate that interactive analysis highlights the role of gene–gene interaction that provides an insight among multiple little effects of various polymorphisms in OC.

scholarly journals Genetic variants in CYP4F2 were significantly correlated with susceptibility to ischemic stroke

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Yuan Wu ◽  
Junjie Zhao ◽  
Yonglin Zhao ◽  
Tingqin Huang ◽  
Xudong Ma ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Chi Squared ◽  
Cytochrome P450 Family ◽  
Stratified Analysis ◽  
Control Study

Abstract Background Ischemic stroke (IS) is a serious cardiovascular disease and is associated with several single nucleotide polymorphisms (SNPs). However, the role of Cytochrome P450 family 4 subfamily F member 2 (CYP4F2) gene in IS remains unknown. Our study aimed to explore whether CYP4F2 polymorphisms influenced IS risk in the Han Chinese population. Methods We selected 477 patients and 495 controls to do a case-control study, and five SNPs in CYP4F2 gene were successfully genotyped. And we evaluated the associations using the Chi-squared test, independent sample t test, and genetic models analyses. Logistic regression analysis was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs). Results In this study, rs12459936 and rs3093144 were associated with IS risk in the overall. After stratified analysis by age (> 61 years), rs3093193 and rs3093144 were related to an increased risk of IS, whereas rs12459936 was related to a decreased risk of IS. In addition, we found that three SNPs (rs3093193, rs3093144 and rs12459936) were associated with the susceptibility to IS in males. We also found five SNPs in the CYP4F2 gene had strong linkage. Conclusions Three SNPs (rs3093193, rs3093144 and rs12459936) in the CYP4F2 were associated with IS risk in a Chinese Han population. And, CYP4F2 gene may be involved in the development of IS.

scholarly journals Association of Interleukin-8 with Cachexia from Patients with Low-Third Gastric Cancer

2009 ◽  
Vol 2009 ◽  
pp. 1-6 ◽  
Author(s):  
Bo Song ◽  
Dianliang Zhang ◽  
Shuchun Wang ◽  
Hongmei Zheng ◽  
Xinxiang Wang
Keyword(s):  
Gastric Cancer ◽  
Cancer Cachexia ◽  
Haplotype Analysis ◽  
Positive Association ◽  
Serum Levels ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Polymerase Chain

Background. Interleukin (IL)-8 has been implicated in the development of cancer cachexia. The polymorphism of IL-8 gene, which may affect the production level of IL-8, may be associated with cancer cachexia.Methods. The serum IL-8 level in our study was examined by radioimmunoassay. We also analyzed single nucleotide polymorphisms (SNPs) −251 A/T and +781 C/T of IL-8 gene, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).Results. The serum levels of IL-8 were significantly elevated in patients with low-third gastric cancer compared with controls, and were further up-regulated in patients with cachexia than those without (Z=−3.134,P=.002). A significantly increased frequency of +781 T allele was noted in patients with cachexia (OR=2.247, 95% CI: 1.351–3.737,P=.002). The +781 TT genotype was observed to be associated with a significantly increased risk of cachexia (OR=3.167, 95% CI: 1.265–7.929,P=.011), and with odds ratio of 3.033 (95% CI: 1.065–8.639,P=.038) for cachexia after adjusting for potential confounding factors. Meanwhile, haplotype analysis indicated a borderline positive association betweenT251T781haplotype and cachexia as compared with theT251C781haplotype (OR=4.92, 95% CI: 1.00–24.28;,P=.053).Conclusions. IL-8 appears to be associated with cachexia from patients with low-third gastric cancer.

scholarly journals Vitamin D Receptor (VDR) Gene Polymorphism in Patients Diagnosed with Colorectal Cancer

Nutrients ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 200
Author(s):  
Maria Latacz ◽  
Dominika Rozmus ◽  
Ewa Fiedorowicz ◽  
Jadwiga Snarska ◽  
Beata Jarmołowska ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Vitamin D ◽  
Environmental Factors ◽  
Gene Polymorphism ◽  
Vitamin D Receptor ◽  
Nucleotide Polymorphisms ◽  
Vdr Gene ◽  
Single Nucleotide ◽  
Pcr Rflp ◽  
Vdr Polymorphisms

Colorectal cancer (CRC) is one of the most commonly occurring neoplasias in humans. The prevalence of CRC rates is still rising. Although the exact background of the disease still remains unknown, it is believed that CRC may not only be a result of environmental factors, but also genetic ones. One of the mechanisms underlying CRC might be the vitamin D pathway, as CRC is the most closely linked neoplasia to vitamin D deficiency. This study shows a possible association of the vitamin D receptor (VDR) polymorphisms FokI, BsmI, ApaI, and TaqI with CRC susceptibility. A total of 103 patients diagnosed with CRC (61 men and 42 women, aged 57–82 years) and 109 healthy people (50 men and 59 women, aged 47–68 years) were genotyped using PCR-RFLP for FokI, BsmI, ApaI, and TaqI. None of the single nucleotide polymorphisms (SNPs) individually increased or decreased the risk of CRC. The evaluation of haplotypes revealed two that might enhance the likelihood of CRC development: taB (OR = 30.22; 95% CI 2.81–325.31; p = 0.01) and tAb (OR = 3.84; 95% CI 1.29–11.38; p = 0.01). In conclusion, genotyping is an easy and robust procedure that needs to be performed only once in a lifetime. A creation of a relevant SNP’s panel might contribute to the identification of the groups that are at the greatest risk of CRC.

scholarly journals Single-nucleotide polymorphisms of the ATM gene, which form a predisposition to breast and ovarian cancer in a population sample of the Chechen Republic

2020 ◽  
pp. 36-37
Author(s):  
З.И. Бисултанова ◽  
П.М. Джамбетова
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Population Sample ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Breast And Ovarian Cancer ◽  
Allele Polymorphism ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Atm Gene

Были изучены два критических полиморфизма гена ATM, (rs664143 (A>G) и rs189037 (G> A) в выборке из 214 пациентов с раком молочной железы (РМЖ) и раком яичников (РЯ) и 389 женщин контрольной группы (≤45 лет), относящихся к чеченской популяции. Генотипирование выполнено методом ПЦР-анализа. Анализ сопряженности аллельных вариантов гена ATM c риском развития РМЖ и РЯ показал повышенный риск развития РЯ в случае носительства аллеля G полиморфизма rs189037, однако с РМЖ достоверных ассоциаций не выявлено. Two critical polymorphisms of the ATM gene, (rs664143 (A> G) and rs189037 (G> A), were studied in a sample of 214 patients with breast cancer and ovarian cancer and 389 women in the control group (≤45 years old) belonging to the Chechen population. An analysis of the conjugation of allelic variants of the ATM gene with a risk of developing breast and ovarian cancer showed an increased risk of developing ovarian cancer in case of carriage of the G allele polymorphism rs189037, but no reliable associations were found with breast cancer).

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