scholarly journals Association between Platelet-Specific Collagen Receptor Glycoprotein 6 Gene Variants, Selected Biomarkers, and Recurrent Pregnancy Loss in Korean Women

Genes ◽  
2020 ◽  
Vol 11 (8) ◽  
pp. 862
Author(s):  
Hui Jeong An ◽  
Eun Hee Ahn ◽  
Jung Oh Kim ◽  
Chang Soo Ryu ◽  
Han Sung Park ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Confidence Interval ◽  
Odds Ratio ◽  
Pregnancy Loss ◽  
Adjusted Odds Ratio ◽  
Recurrent Pregnancy Loss ◽  
Korean Women ◽  
Chain Reaction ◽  
Genotype Frequencies ◽  
Polymerase Chain

This paper investigates whether glycoprotein 6 (GP6) gene polymorphisms are a risk factor for recurrent pregnancy loss (RPL) in Korean women. Genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism and real-time polymerase chain reaction amplification. We identified five polymorphisms in the GP6 gene: rs1654410 T>C, rs1671153 T>G, rs1654419 G>A, rs12610286 A>G, and rs1654431 G>A. GP6 rs1654410 CC was associated with decreased RPL risk (adjusted odds ratio = 0.292, 95% confidence interval = 0.105–0.815, p = 0.019), and recessive genotypes were also significantly associated with decreased RPL risk (adjusted odds ratio = 0.348, 95% confidence interval = 0.128−0.944, p = 0.038). GP6 rs1654419 GA was associated with decreased RPL risk (adjusted odds ratio = 0.607, 95% confidence interval = 0.375-0.982, p = 0.042), and dominant genotypes were significantly associated with decreased RPL risk (adjusted odds ratio = 0.563, 95% confidence interval = 0.358−0.885, p = 0.013). Altogether, the genotype frequencies of GP6 rs1654410 T>C and GP6 rs1654419 G>A were significantly different between RPL patients and control participants. Therefore, although GP6 polymorphisms may be useful as biomarkers of RPL, additional studies with heterogeneous cohorts are required to better understand the influence of GP6 and assess its performance as a biomarker.

scholarly journals Association Study between the Polymorphisms of Matrix Metalloproteinase (MMP) Genes and Idiopathic Recurrent Pregnancy Loss

Genes ◽  
2019 ◽  
Vol 10 (5) ◽  
pp. 347 ◽  
Author(s):  
Han Sung Park ◽  
Ki Han Ko ◽  
Jung Oh Kim ◽  
Hui Jeong An ◽  
Young Ran Kim ◽  
...  
Keyword(s):  
Confidence Interval ◽  
Odds Ratio ◽  
Pregnancy Loss ◽  
Adjusted Odds Ratio ◽  
Recurrent Pregnancy Loss ◽  
Proteolytic Enzymes ◽  
Nucleotide Polymorphisms ◽  
Genotype Combination ◽  
History Of ◽  
Consecutive Pregnancy

Recurrent pregnancy loss (RPL) refers to two or more consecutive pregnancy losses. It is estimated that fewer than 5% of women experience RPL. Matrix metalloproteinases (MMPs) are a family of proteolytic enzymes that play important roles in providing a safe and conducive environment for the stable development of the fetus. In this case-control study, we evaluated the associations between RPL and single nucleotide polymorphisms (SNPs) in MMP-8 and MMP-27. We recruited 375 Korean women with a history of RPL and 240 ethnically-matched healthy parous controls, and we performed genotyping for the MMP-8 rs2509013 C>T, MMP-8 rs11225395 G>A, and MMP-27 rs3809017 T>C polymorphisms. All SNPs were genotyped via the polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) assay. In the genotype frequency analyses, the TT genotype of the MMP-8 rs2509013 C>T (age-adjusted odds ratio, 0.415; 95% confidence interval, 0.257–0.671; P = 0.0003) and TC genotype of MMP-27 rs3809017 T>C (age-adjusted odds ratio, 0.681; 95% confidence interval, 0.483–0.961; P = 0.029) were associated with decreased RPL susceptibility. Moreover, these trends were maintained in the haplotype and genotype combination analyses. Interestingly, amongst the RPL patients, higher levels of homocysteine (P = 0.042) and uric acid (P = 0.046) were associated with MMP-27 rs3809017 T>C. In conclusion, the two polymorphisms of MMP-8 and MMP-27 were significantly associated with RPL risk, both individually and in combination. Therefore, these two polymorphisms are potential biomarkers for RPL susceptibility.

Effects of coagulation factor XIII (Val34Leu) polymorphism on recurrent pregnancy loss in Iranian Azeri women

2017 ◽  
Vol 41 (2) ◽  
Author(s):  
Alireza Isazadeh ◽  
Saba Haj Azimian ◽  
Nazila Tariverdi ◽  
Seyed Ali Rahmani ◽  
Maryam Esmaeili ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Case Control Study ◽  
Coagulation Factor ◽  
Clotting Factor ◽  
Chain Reaction ◽  
Genotype Frequencies ◽  
Polymerase Chain ◽  
Control Study

AbstractBackground:Recurrent pregnancy loss (RPL) is a heterogeneous condition consisting of two or more consecutive abortions occurring before 20 weeks of gestation. One of the clotting factor genes encodes factor XIII (Methods:A prospective case-control study was performed on a cohort of 310 RPL patients and 290 healthy controls. DNA was extracted from the whole blood and fragments of the Val34Leu polymorphism were amplified by polymerase chain reaction (PCR), followed by DNA sequencing. Genotyping was performed using the Sequenom MassArray system.Results:The genotype frequencies ofConclusions:No significant association was observed between the Val34Leu polymorphism and RPL among Iranian Azeri women.

Prevalence, survival outcomes, and clinicopathologic factors associated with negative high risk human papillomavirus in surgical specimens of cervical cancer with pretreatment negative DNA genotype test

2019 ◽  
Vol 29 (1) ◽  
pp. 10-16
Author(s):  
Gun Oh Chong ◽  
Hyung Soo Han ◽  
Ji Young Park ◽  
Seon Duk Lee ◽  
Yoon Hee Lee ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
Polymerase Chain Reaction ◽  
Human Papillomavirus ◽  
High Risk ◽  
Odds Ratio ◽  
Survival Outcomes ◽  
Chain Reaction ◽  
Genotype Test ◽  
Polymerase Chain ◽  
Papillomavirus Dna

ObjectiveThe aim of this study was to detect high risk human papillomavirus in cervical cancer with a pretreatment negative high risk human papillomavirus DNA genotype test and to evaluate clinicopathologic characteristics and survival outcomes according to high risk human papillomavirus status.MethodsWe investigated high risk human papillomavirus status in surgical specimens from 30 cases of cervical cancer using polymerase chain reaction. Polymerase chain reaction primers were set to detect the presence of the common L1 and E7 regions of human papillomavirus types 16, 18, 31, 33, 45, 52, and 58. We analyzed the following clinicopathologic parameters to evaluate their relationships with high risk human papillomavirus status: age, histology, stage, tumor size, invasion depth, lymphovascular invasion, and recurrent status.ResultsAmong 30 cases with a pretreatment negative DNA genotype test, high risk human papillomavirus was detected in 12 (40.0%), whereas 18 (60.0%) were negatives. Of 12 high risk human papillomavirus positive cases, 10 (33.3%) were positive for the L1 region, 6 (20.0%) of the 7 types were positive for the E7 region, and 4 (13.1%) were positive for both L1 and E7 regions. According to a multiple logistic regression model, tumor size (odds ratio 7.80; 95% confidence interval 1.476 to 41.216; P=0.0097) and stage (odds ratio 7.00; 95% confidence interval 1.293 to 37.910; P=0.0173) were associated with negative high risk human papillomavirus DNA status. Kaplan–Meier survival plots showed that negative high risk human papillomavirus status was associated with worse disease free survival in contrast with positive high risk human papillomavirus status (P=0.0392).ConclusionsNegative high risk human papillomavirus was found in 60% of cervical cancers with a pretreatment negative DNA genotype test. Moreover, the negative high risk human papillomavirus group was associated with worse survival outcome.

Detection of human papillomavirus genotypes in cervical neoplasia from Korean women using polymerase chain reaction

1991 ◽  
Vol 41 (2) ◽  
pp. 129-134 ◽  
Author(s):  
Jong Sup Park ◽  
Sung Eun Namkoong ◽  
Hun Young Lee ◽  
Seung Jo Kim ◽  
Richard W. Daniel ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Human Papillomavirus ◽  
Cervical Neoplasia ◽  
Korean Women ◽  
Chain Reaction ◽  
Polymerase Chain

Association ofCx43rs2071166 polymorphism with an increased risk for atrial septal defect

2017 ◽  
Vol 28 (3) ◽  
pp. 397-402 ◽  
Author(s):  
Ruoyi Gu ◽  
Wei Sheng ◽  
Xiaojing Ma ◽  
Guoying Huang
Keyword(s):  
Confidence Interval ◽  
Atrial Septal Defect ◽  
Odds Ratio ◽  
Septal Defect ◽  
Healthy Controls ◽  
Nucleotide Polymorphism ◽  
Chain Reaction ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Polymerase Chain

AbstractAtrial septal defect is one of the most common CHD. The pathogenesis of atrial septal defect still remains unknown.Cx43is the most prevalent connexin in the mammalian heart during development. Its genetic variants can cause several CHD. The aim of our study was to investigate the association of genetic variations of theCx43with sporadic atrial septal defect. A total of 450 paediatric patients were recruited, including 150 cases with atrial septal defect and 300 healthy controls. The promoter region ofCx43was analysed by sequencing after polymerase chain reaction. All data were analysed by using the Statistic Package for Social Science 19.0 software. The frequency of the single nucleotide polymorphism rs2071166 was significantly higher in atrial septal defect cases than in healthy controls. The CC genotype at rs2071166 site inCx43was correlated with an increased risk for atrial septal defect (p<0.0001, odds ratio=3.891, 95% confidence interval 1.948–7.772) and the C allele was positively correlated with atrial septal defect (p=0.007, odds ratio=1.567, 95% confidence interval 1.129–2.175). In conclusion, our results confirmed that rs2071166 inCx43may be relevant with an increased atrial septal defect risk.

scholarly journals A school outbreak of Norwalk-like virus: evidence for airborne transmission

2003 ◽  
Vol 131 (1) ◽  
pp. 727-736 ◽  
Author(s):  
P. J. MARKS ◽  
I. B. VIPOND ◽  
F. M. REGAN ◽  
K. WEDGWOOD ◽  
R. E. FEY ◽  
...  
Keyword(s):  
Odds Ratio ◽  
Adjusted Odds Ratio ◽  
Nucleotide Sequence Analysis ◽  
Chain Reaction ◽  
Epidemiological Features ◽  
Positive Stool ◽  
Viral Particles ◽  
Stool Samples ◽  
Polymerase Chain ◽  
The Times

An outbreak of gastroenteritis affected a school attended by children aged 4–11 years. Epidemiological features suggested this was due to Norwalk-like virus (NLV) and this was confirmed by polymerase chain reaction (PCR). Nucleotide sequence analysis of the PCR amplicons revealed identical strains in all five positive stool samples. Pupils were significantly more likely to become ill following an episode of vomiting within their classroom (adjusted odds ratio 4·1, 95% CI 1·8–9·3). The times from exposure to illness were consistent with direct infection from aerosolized viral particles where exposure to vomiting was high.Cleaning with quaternary ammonium preparations made no impact on the course of the outbreak. However, the outbreak stopped after the school closed for 4 days and was cleaned using chlorine-based agents. This study confirms the importance of vomiting in the transmission of NLV and provides evidence that direct infection with aerosolized viral particles occurs.

scholarly journals Evaluation method for asymmetric uncertainty of quantitative polymerase chain reaction measurements of deoxyribonucleic acids with low copy number

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Unoh Ki ◽  
Takeru Suzuki ◽  
Satoshi Nakazawa ◽  
Yuuki Yonekawa ◽  
Kazuki Watanabe ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Confidence Interval ◽  
Real Time ◽  
Real Time Pcr ◽  
Copy Number ◽  
Limit Of Detection ◽  
Quantitative Polymerase Chain Reaction ◽  
Chain Reaction ◽  
Low Copy Number ◽  
Polymerase Chain

AbstractRecently, in food safety and various other fields, qualitative and quantitative gene analysis using real-time polymerase chain reaction (PCR) method has become increasingly popular. The limit of detection (LOD) and quantifiable range for these measurements depends on the range and precision of DNA calibrators’ concentrations. Low-copy-number nucleic acid reference materials with low uncertainty produced by an inkjet system have been developed to allow for precise measurements in a low-copy-number region. However, when using a calibrator with a low copy number near one, the copy number distribution is asymmetric. Consequently, the confidence intervals of estimated copy numbers can include negative values when conventional methods of uncertainty estimation are used. A negative confidence interval is irrelevant in the context of copy number, which is always positive value or zero. Here, we propose a method to evaluate the uncertainty of real-time PCR measurements with representative values and an asymmetric 95% confidence interval. Moreover, we use the proposed method for the actual calculation of uncertainty of real-time PCR measurement results for low-copy-number DNA samples and demonstrate that the proposed method can evaluate the precision of real-time PCR measurements more appropriately in a low-copy-number region.

scholarly journals The study of HLA markers susceptibility to celiac disease in women with recurrent pregnancy loss

2019 ◽  
Vol 24 ◽  
pp. 239-243
Author(s):  
O. I. Terpyliak ◽  
D. V. Zastavna ◽  
K. O. Sosnina
Keyword(s):  
Celiac Disease ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Fold Increase ◽  
Chain Reaction ◽  
Specific Primers ◽  
Increased Risk ◽  
Reproductive Loss ◽  
Polymerase Chain ◽  
Hla Dqa1

Aim. Celiac disease (CD) is a multifactorial pathology with high genetic predisposition, and is associated with reproductive health disorders in women. The purpose of the study was to investigate the presence of HLA-DQ2.5 (HLA-DQA1 * 05:01 HLA-DQB1 * 02) and HLA-DQ8 (HLA-DQB1 *03:02) genotypes of predisposition to CD in women with recurrent pregnancy loss. Methods. PCR-SSP (polymerase chain reaction with sequence-specific primers). Results. The increased risk of recurrent pregnancy loss in women is associated with DQ2.5 - the pre-disposition genotype for CD (c2=4.35, P<0,05). Calculation of odds ratio (OR) showed more than 4-fold increase in recurrent pregnancy loss risk in women with HLA-DQ2.5 genotype. Conclusions. The study of HLA markers of celiac disease in women with reproductive loss is important for the purpose of preconceptional prevention of recurrent pregnancy loss. Keywords: celiac disease, recurrent pregnancy loss, HLA markers.

scholarly journals Polymorphisms in F2, F7, and PAI1 genes in men with coronary atherosclerosis

2020 ◽  
Vol 25 (10) ◽  
pp. 3721
Author(s):  
E. V. Stryukova ◽  
V. N. Maksimov ◽  
Ya. V. Polonskaya ◽  
I. S. Murashov ◽  
A. M. Volkov ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Odds Ratio ◽  
Coronary Atherosclerosis ◽  
Artery Bypass ◽  
Statistical Processing ◽  
Factor Vii ◽  
Blood Levels ◽  
Chain Reaction ◽  
Vulnerable Plaques ◽  
Polymerase Chain

Aim. To study the associations of polymorphisms in F2, F7, and PAI1 genes with the presence of vulnerable plaque in coronary arteries (CA) and the blood concentration of proteins encoded by these genes.Material and methods. The study included 101 men 40-70 years old with documented coronary atherosclerosis, who underwent coronary artery bypass grafting. According to the histological analysis of atherosclerotic plaques, men were divided into 2 groups: 40 men (39,6%) with stable plaque; 61 men (60,4%) with vulnerable plaques in CA. Genotyping of rs1799963 and rs6046 was performed by reverse transcription polymerase chain reaction, rs1799889 — by polymerase chain reaction. Statistical processing was performed using the SPSS 16.0 software package.Results. In patients with stable plaques, allele A of rs6046 polymorphism in the F7 gene was observed in 2,9 times more often (95% confidence interval (CI), 1,20-7,20, p=0,021) than in men with vulnerable plaques. The odds ratio of the GA genotype carriage is 4,03 times higher among patients with stable plaques in CA compared with vulnerable plaques (95% CI, 1,49-10,93, p=0,006). The odds ratio of the 5G/4G genotype carriage among patients with stable plaques in CA is 2,47 times higher than in patients with vulnerable plaques (95% CI, 1,08-5,62, p=0,039). The 4G/4G genotype carriage is 5,85 times much more common in men with stable plaques (95% CI, 1,61-21,34, p=0,003).Conclusion. Polymorphism in the PAI1 (rs1799889) and F7 (rs6046) genes are associated with the presence of vulnerable plaques in CA in men with verified coronary atherosclerosis. There were no differences between the groups in the frequencies of genotypes and alleles of the rs1799963 polymorphism of the F2 gene. Also, no significant differences were found in the blood levels of PAI-1 and factor VII in groups with different genotypes.

Genetic association of five plasminogen activator inhibitor-1 (PAI-1) polymorphisms and idiopathic recurrent pregnancy loss in Korean women

2013 ◽  
Vol 110 (10) ◽  
pp. 742-750 ◽  
Author(s):  
Bo Eun Lee ◽  
Yi Seul Choi ◽  
Ji Hyang Kim ◽  
Ji Eun Shin ◽  
HyungChul Rah ◽  
...  
Keyword(s):  
Plasminogen Activator ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Plasminogen Activator Inhibitor ◽  
Korean Women ◽  
Plasminogen Activator Inhibitor 1 ◽  
Ordinal Logistic Regression Analysis ◽  
Polymerase Chain ◽  
Activator Inhibitor ◽  
Pai 1

SummaryPlasminogen activator inhibitor-1 (PAI-1) is important for maintaining pregnancy. Aberrantly increased PAI-1 levels may contribute to thrombosis and inflammation, leading to pregnancy loss. This study investigated the association of PAI-1 polymorphisms (PAI-1 rs2227631 [-844G>A], rs1799889 [-675 4G/5G], rs6092 [43G>A], rs2227694 [9785G>A], and rs7242 [11053T>G]) with idiopathic recurrent pregnancy loss (RPL) in Korean women. We screened 308 RPL patients and 227 control participants for five PAI-1 polymorphisms. Genotyping of PAI-1 was performed by polymerase chain reaction-restriction fragment length polymorphism assay. PAI-1 4G4G and -844AA/ 4G4G/11053GG genotypes were associated with RPL. PAI-1 -844A/4G/43G/9785G/11053G haplotype was connected to hypofibrinolytic status (i.e. increased levels of plasma PAI-1, increased numbers of platelets, reduced prothrombin time, and reduced activated partial thromboplastin time). Moreover, PAI-1 11053TG+GG frequency was positively related to plasma homocysteine and urate levels, whereas -844AA frequency was associated with plasma folate concentrations according to ordinal logistic regression analysis. Based on these results, we propose that PAI-1 -844G>A, 4G/5G, and 11053T>G polymorphisms are markers of RPL.

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