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

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.

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 Single Nucleotide Polymorphisms in the Toll-Like Receptor 3 and CD44 Genes Are Associated with Persistence of Vaccine-Induced Immunity to the Serogroup C Meningococcal Conjugate Vaccine

2011 ◽  
Vol 19 (3) ◽  
pp. 295-303 ◽  
Author(s):  
Catrin E. Moore ◽  
Branwen J. Hennig ◽  
Kirsten P. Perrett ◽  
J. Claire Hoe ◽  
Sue J. Lee ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Human Genetics ◽  
Replication Study ◽  
Antibody Concentration ◽  
Nucleotide Polymorphisms ◽  
Toll Like Receptor ◽  
Single Nucleotide ◽  
Bactericidal Antibody ◽  
Conjugate Vaccination ◽  
Mean Time

ABSTRACTThe rate of decay of antibody concentration following serogroup C meningococcal (MenC) polysaccharide-protein conjugate vaccination varies between individuals. This depends partly on vaccination age but may be influenced by human genetics. We studied 721 single nucleotide polymorphisms (SNPs) across 131 candidate genes in a first cohort of 905 Caucasians (11 to 21 years old; mean time after vaccination, 4.9 years) and 30 SNPs across 17 genes in a replication study using 155 children, aged 6 to 12 years (mean time after vaccination, 6.7 years), and 196 infants (1 year old; mean time after vaccination, 8 months). Individuals were classified as responders or nonresponders for total MenC IgG concentration and MenC serum bactericidal antibody (SBA) measurements. Associated genes were examined further for quantitative outcome measures. Fifty-nine SNPs in 37 genes were associated with IgG persistence (adjusted for age at measurement), and 56 SNPs in 36 genes were associated with SBA persistence (adjusted for age at measurement and vaccine used). Three SNPs each within the Toll-like receptor 3 (TLR3) (rs3775291, rs3775292, and rs5743312) and CD44 (rs11033013, rs353644, and rs996076) genes were associated with IgG (adjusted for age at measurement) or SBA (adjusted for age at measurement and vaccine used) persistence in the initial genetic study (P, 0.02 to 0.04). Single SNPs within the TLR3 (rs7657186) (P= 0.004 [unadjusted]) and CD44 (rs12419062) (P= 0.01 [unadjusted]) genes were associated with IgG persistence in the replication study. These results suggest that genetic polymorphisms in the TLR3 and CD44 genes are associated with the persistence of the immune response to MenC vaccines 1 to 6 years after vaccination.

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.

A replication study examining three common single-nucleotide polymorphisms and the risk of prostate cancer in a Japanese population

The Prostate ◽  
2010 ◽  
Vol 71 (10) ◽  
pp. 1023-1032 ◽  
Author(s):  
Miao Liu ◽  
Motofumi Suzuki ◽  
Tomio Arai ◽  
Motoji Sawabe ◽  
Yutaka Enomoto ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Japanese Population ◽  
Replication Study ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide
Sign in / Sign up

Export Citation Format

Share Document