Analysis of 4 Single-Nucleotide Polymorphisms in Relation to Cervical Dysplasia and Cancer Development Using a High-Throughput Ligation-Detection Reaction Procedure

2011 ◽  
Vol 21 (9) ◽  
pp. 1664-1671 ◽  
Author(s):  
Helmut von Keyserling ◽  
Thomas Bergmann ◽  
Miriam Schuetz ◽  
Ursula Schiller ◽  
Jonas Stanke ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Genetic Markers ◽  
Cervical Dysplasia ◽  
Semantic Integration ◽  
Cancer Development ◽  
Large Sample Size ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genetic Characteristics

BackgroundHost genetic characteristics and environmental factors may correlate with risk for cervical cancer development. Here we describe a retrospective screening study for single nucleotide polymorphisms (SNPs) in genetic markersTP53, MTHFR, CYP1A1,andCYP2E1in 749 patients.MethodsA multiplex ligation-dependent polymerase chain reaction approach was applied. We used archived material from human papillomavirus tests and correlated SNP genotypes to the corresponding clinical data. Semantic integration was used to identify and evaluate the clinical status from electronic health records.ResultsAn association with cervical cancer and high-grade dysplasia was found for the rare homozygous CC genotype (rs4646903) inCYP1A1(odds ratio [OR], 8.862). Odds ratios were also significantly elevated for heterozygousMTHFRCT genotype (rs1801133; OR, 1.457). No significant association was found inTP53(rs1042522) andCYP2E1(rs3813867). In addition, we found smokers at higher risk (OR, 2.688) and identified pregnancies as a significant risk factor (OR, 1.54).ConclusionsOur protocol enables a feasible way for further retrospective large sample size evaluation of potential genetic markers. This study revealed genetic associations of a rare SNP genotype with cervical dysplasia in one of the largest patient sample to date that warrants further investigation.

A pilot replication study of two PER3 single nucleotide polymorphisms as potential genetic markers for morning and evening earliness-lateness

2017 ◽  
Vol 48 (4) ◽  
pp. 531-540 ◽  
Author(s):  
Vladimir B. Dorokhov ◽  
Alexandra N Puchkova ◽  
Anton O. Taranov ◽  
Petr A. Slominsky ◽  
Valentin A. Vavilin ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Genetic Markers ◽  
Replication Study ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

Deletion and Single Nucleotide Polymorphisms in Common Glutathione-S Transferases Contribute to Colorectal Cancer Development

2019 ◽  
Vol 25 (4) ◽  
pp. 1579-1587 ◽  
Author(s):  
Milica Lj. Stojkovic Lalosevic ◽  
Vesna M. Coric ◽  
Tatjana D. Pekmezovic ◽  
Tatjana P. Simic ◽  
Marija S. Pljesa Ercegovac ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Cancer Development ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Glutathione S Transferases

scholarly journals XRCC2 R188H (rs3218536), XRCC3 T241M (rs861539) and R243H (rs77381814) Single Nucleotide Polymorphisms in Cervical Cancer Risk

2013 ◽  
Vol 19 (3) ◽  
pp. 553-558 ◽  
Author(s):  
Luis Orlando Pérez ◽  
Andrea Crivaro ◽  
Gisela Barbisan ◽  
Lucia Poleri ◽  
Carlos Daniel Golijow
Keyword(s):  
Cervical Cancer ◽  
Cancer Risk ◽  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Cervical Cancer Risk

scholarly journals Association of Maternal and Fetal Single-Nucleotide Polymorphisms in Metalloproteinase (MMP1, MMP2, MMP3, and MMP9) Genes with Preeclampsia

2018 ◽  
Vol 2018 ◽  
pp. 1-10 ◽  
Author(s):  
Agata Sakowicz ◽  
Michalina Lisowska ◽  
Lidia Biesiada ◽  
Magda Rybak-Krzyszkowska ◽  
Agnieszka Gach ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Genetic Markers ◽  
Gene Polymorphisms ◽  
Pivotal Role ◽  
Trophoblast Invasion ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Blood Samples ◽  
Implantation Process ◽  
Risk Of Preeclampsia

Background. Metalloproteinases (MMPs) play a pivotal role during the process of trophoblast invasion and placentation. The appearance of five functional single-nucleotide polymorphisms (SNP) in the genes of the metalloproteinases most commonly implicated in the implantation process may influence the development of preeclampsia. Methods. Blood samples were collected from 86 mothers and 86 children after preeclampsia and 85 mothers and 85 children with uncomplicated pregnancies. The distribution of genotypes for −1607 1G/2G MMP1, −735 C/T MMP2, −1306 C/T MMP2, −1171 5A/6A MMP3, and −1562C/T MMP9 polymorphisms was determined by RFLP-PCR. Results. The occurrence of 1G/1G MMP1 or 5A/5A MMP3 genotype in the mother or 1G/1G MMP1 or 5A/6A MMP3 genotype in the child is associated with preeclampsia development. Moreover, simultaneous maternal and fetal 1G/1G homozygosity increases the risk of preeclampsia development 2.39-fold and the set of maternal 5A/5A and fetal 5A/6A MMP3 genotypes by over 4.5 times. No association between the carriage of studied MMP2 or MMP9 polymorphisms and the predisposition to preeclampsia was found. Conclusion. The maternal 1G/1G MMP1 and 5A/5A MMP3 and fetal 1G/1G MMP1 and 5A/6A MMP3 gene polymorphisms may be strong genetic markers of preeclampsia, occurring either individually or together.

scholarly journals Association between a Variant in MicroRNA-646 and the Susceptibility to Hepatocellular Carcinoma in a Large-Scale Population

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Rui Wang ◽  
Jun Zhang ◽  
Weiru Jiang ◽  
Yanyun Ma ◽  
Wenshuai Li ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Single Nucleotide Polymorphisms ◽  
Protective Effect ◽  
Large Scale ◽  
Cancer Development ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Scale Population

Background. Single-nucleotide polymorphisms in microRNAs play important roles in oncogenesis and cancer development.Objective. We aim to explore whether miR-646 rs6513497 is associated with the risk of hepatocellular carcinoma.Methods. Total 997 HCC patients and 993 cancer-free controls were enrolled in this study. Genotyping was performed using MassARRAY method.Results. Compared with the T allele of rs6513497, the G allele was associated with a significantly decreased risk of HCC (OR = 0.788, 95% CI = 0.631–0.985,P= 0.037); moreover, a more protective effect of the G allele was shown in males (OR = 0.695, 95% CI = 0.539–0.897,P= 0.005 in HCC and OR = 0.739, 95% CI = 0.562–0.972,P= 0.030 in HBV-related HCC), basically in a dominant manner (HCC: OR = 0.681, 95% CI = 0.162–0.896,P= 0.006; HBV-related HCC: OR = 0.715, 95% CI = 0.532–0.962,P= 0.027).Conclusions. Our findings support the view that the miR-646 SNP rs6513497 may contribute to the susceptibility of HCC.

Association of molecular genetic markers and oxidative stress indices in workers in contact with asbestos dust

2020 ◽  
pp. 560-560
Author(s):  
L. M. Bezrukavnikova ◽  
N. N. Anokhin ◽  
E. S. Tsidilkovskaya
Keyword(s):  
Oxidative Stress ◽  
Lipid Peroxidation ◽  
Single Nucleotide Polymorphisms ◽  
Genetic Markers ◽  
Molecular Genetic ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Stress Indices ◽  
Molecular Genetic Markers ◽  
And Oxidative Stress

The studied single-nucleotide polymorphisms EPHX1 (rs1051740), SAD2 (rs4880), MP9 (rs17576) in persons exposed to asbestos dust are associated with elevated levels of lipid peroxidation catabolites, which confirms their significance in the development of asbestos-related bronchopulmonary pathology.

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