scholarly journals Renalase levels and genetic variants are associated with preeclampsia: a hospital based study in Chinese cohort

2020 ◽  
Author(s):  
Xianshu Li ◽  
Qianqian Huang ◽  
Jing Xu
Keyword(s):  
Pregnant Women ◽  
Gene Polymorphisms ◽  
Chinese Women ◽  
Positive Association ◽  
Healthy Pregnancy ◽  
Pcr Rflp ◽  
Chinese Cohort ◽  
Therapeutic Measures ◽  
Control Study

Abstract Background Pre-eclampsia (PE) is a major contributor of maternal and fetal morbidity and mortality. There are many host related biomolecules that regulate the pathophysiology PE. Critical analysis of these parameters is of crucial importance as some of these may be used as prognostic/diagnostic marker of this serious ailment and can be targeted for developing therapeutic measures against the disease. The aim of the current study is to examine the role of renalse in the context PE in a Chinese cohort. Methods A hospital based case control study was designed to investigate role of renalase in PE. 384 Chinese women consisting of subjects with normotensive pregnancy (n = 105), women with PE (n = 121) and healthy pregnancy (n = 158) were included in the study. Serum renalse level was measured in recruited subjects by ELISA. Renalase gene polymorphisms (rs10887800, rs2576178 and rs2296545) were genotyped by PCR-RFLP. Results A higher level of serum renalse in healthy pregnant women compared to controls, whereas, subjects with PE demonstrated a reduced level of this enzyme. Renalse level was negatively correlated with systolic as well as diastolic blood pressure, whereas, a positive association was observed with glomerular filtration rate. Prevalence of homozygous mutant (GG) and minor allele (G) of rs10887800 and rs2576178 polymorphisms were higher in PE patients compared to normotensive pregnant women and healthy controls. Furthermore, association of G-G-C haplotype with susceptibility to PE was observed. Conclusions Low level of renalse may be associated with high risk of PE during pregnancy. Renalase gene polymorphisms (rs10887800 and rs2576178) are correlated with with serum renalase and associated with predisposition to development of PE in Chinese cohort.

scholarly journals Gly972Arg Variant of Insulin Receptor Substrate 1 Gene and Colorectal Cancer Risk in Overweight/Obese Subjects

2016 ◽  
Vol 31 (1) ◽  
pp. 68-72 ◽  
Author(s):  
Touraj Mahmoudi ◽  
Keivan Majidzadeh-A ◽  
Khatoon Karimi ◽  
Hamid Farahani ◽  
Reza Dabiri ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Insulin Receptor ◽  
Case Control Study ◽  
Insulin Receptor Substrate ◽  
Protective Effects ◽  
Insulin Receptor Substrate 1 ◽  
Pcr Rflp ◽  
Obese Subjects ◽  
Control Study

Background Given the major role of obesity and insulin resistance (IR) in colorectal cancer (CRC), we investigated whether genetic variants in ghrelin ( GHRL), resistin ( RETN) and insulin receptor substrate 1 ( IRS1) were associated with CRC risk. Methods This study was conducted as a case-control study, and 750 subjects, including 438 controls and 312 patients with CRC, were enrolled and genotyped using the PCR-RFLP method. Results No significant differences were observed for GHRL (rs696217), RETN (rs3745367) and IRS1 (rs1801278, Gly972Arg or G972R) gene variants between the cases and controls. However, the IRS1 G972R R allele compared with the G allele and the G972R RR+GR genotype compared with the GG genotype appeared to be markers of decreased CRC susceptibility in the overweight/obese subjects (p = 0.024; odds ratio [OR] = 0.42, 95% confidence interval [95% CI], 0.20-0.91; and p = 0.048; OR = 0.42, 95% CI, 0.17-0.99, respectively). Furthermore, the R allele and RR+GR genotype were also associated with decreased risks for obesity in the patients with CRC (p = 0.007; OR = 0.35, 95% CI, 0.15-0.77; and p = 0.015; OR = 0.35, 95% CI, 0.15-0.72, respectively). Conclusions In accordance with previous studies, our findings suggest that the IRS1 G972R R allele and RR+GR genotype have protective effects for CRC in overweight/obese patients and for obesity in patients with CRC. Nevertheless, further studies are required to confirm these findings.

scholarly journals Role of plasminogen activator inhibitor-1 gene polymorphisms in osteoporosis: A study in Chinese post-menopausal women

2018 ◽  
Vol 16 ◽  
pp. 205873921876729
Author(s):  
An Wan ◽  
Daodong Liu
Keyword(s):  
Gene Polymorphisms ◽  
Chinese Women ◽  
Plasminogen Activator Inhibitor ◽  
Plasminogen Activator Inhibitor 1 ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Post Menopausal ◽  
Activator Inhibitor ◽  
Pai 1

Osteoporosis is a chronic multifactorial disease characterized by deterioration of bone mass and is vulnerable to bone fracture. Plasminogen activator inhibitor-1 (PAI-1) is an important molecule for maintenance of optimum bone mass. Several single-nucleotide polymorphisms (SNPs) in PAI-1 have been reported to alter PAI-1 expression and/or the translational level. In this report, we explored the possible role of common PAI-1 gene polymorphisms on predisposition to osteoporosis in a Chinese cohort. A total of 364 post-menopausal Chinese women diagnosed of having osteoporosis and 350 healthy females hailing from similar areas were enrolled in this study. Five common SNPs (−844G > A, −6754G/5G, +43G > A, +9785G > A and +11053T > G) were genotyped by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP). Relative expression of PAI-1 mRNA and plasma PAI-1 levels were quantified by reverse transcription polymerase chain reaction (RT-PCR) and enzyme-linked immunosorbent assay (ELISA), respectively. Prevalence of homozygous mutant (5G/5G) and minor allele (5G) of PAI-1 (−675 4G/5G) polymorphism was significantly more frequent in patients than in healthy controls (5G/5G: P < 0.0001, odds ratio (OR) = 3.18; 5G: P < 0.0001, OR = 1.65). Both plasma PAI-1 and relative mRNA expression levels were significantly lower in patients compared to healthy controls. Interestingly, the quantity of plasma PAI-1 and mRNA expression was correlated with PAI-1 (−675 4G/5G) polymorphism: subjects with 4G/4G genotype had elevated PAI-1 in comparison to homozygous mutant, and displayed lower quantity of PAI-1 protein and mRNA values. PAI-1 (−675 4G/5G) mutant is associated with susceptibility to development of osteoporosis in post-menopausal Chinese women. Furthermore, this variant in the promoter region alters plasma protein levels and relative expression of PAI-1.

scholarly journals MTHFR and F5 genetic variations have association with preeclampsia in Pakistani patients: a case control study

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Feriha Fatima Khidri ◽  
Yar Muhammad Waryah ◽  
Faiza Kamran Ali ◽  
Hina Shaikh ◽  
Ikram Din Ujjan ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Case Control Study ◽  
Protective Role ◽  
Case Control ◽  
Amplification Refractory Mutation System ◽  
World Population ◽  
Single Nucleotide Variants ◽  
First Case ◽  
Control Study

Abstract Background To study the role of single nucleotide variants (SNVs) of genes related to preeclampsia in Pakistani pregnant women. Methods After ethical approval and getting informed consent; 250 pregnant women were enrolled and equally divided into two groups (125 preeclamptic cases and 125 normotensive pregnant women). Demographic details and medical history were recorded, and 10 ml blood sample was obtained for DNA extraction. The tetra-primer amplification refractory mutation system (ARMS) assays were developed for assessing the variants of three preeclampsia related genes; F5, MTHFR and VEGFA. An association of six SNVs; F5:c.1601G > A (rs6025), F5:c.6665A > G (rs6027), MTHFR: c.665C > T (rs1801133), MTHFR: c.1286A > C (rs1801131), VEGFA: c.-2055A > C (rs699947) and VEGFA: c.*237C > T (rs3025039) with preeclampsia was determined by using different genetic models. Results Genotyping of the SNVs revealed that patients with MTHFR:c.665C > T, have increased susceptibility to preeclampsia (CT versus CC/TT: OR = 2.79, 95% CI = 1.18–6.59; P* = 0.046 and CT/TT vs CC: OR = 2.91, 95% CI = 1.29–6.57; P* = 0.0497, in overdominant and dominant models, respectively), whereas F5:c.6665A > G, (A/G vs AA/GG: OR = 0.42, 95% CI = 0.21–0.84; P* = 0.038 in overdominant model) and MTHFR:c.1286A > C, (CC versus AA: OR = 0.36, 95% CI = 0.18–0.72; P* = 0.0392 in codominant model) have significantly decreased risk for preeclampsia. F5:c.1601G > A, VEGFA: c.-2055A > C and VEGFA: c.*237C > T variants revealed no relationship with the disease. Conclusion This is the first case control study describing the protective role of F5:c.6665A > G against preeclampsia in any world population. In addition, the present study confirmed the association and role of MTHFR gene variations in the development of preeclampsia in Pakistani patients. Further genetic studies may be required to better understand the complex genetic mechanism of SNVs in preeclampsia related genes in pregnant women.

scholarly journals Association between Endothelial Nitric Oxide Synthase Polymorphisms and Risk of Metabolic Syndrome

2013 ◽  
Vol 34 (3) ◽  
pp. 187-197 ◽  
Author(s):  
Chiu-Shong Liu ◽  
Ru-Jiun Huang ◽  
Fung-Chang Sung ◽  
Cheng-Chieh Lin ◽  
Chih-Ching Yeh
Keyword(s):  
Metabolic Syndrome ◽  
Endothelial Nitric Oxide Synthase ◽  
Gene Polymorphisms ◽  
Haplotype Analysis ◽  
Variant Genotype ◽  
Oxide Synthase ◽  
Endothelial Nitric Oxide ◽  
Self Administered Questionnaire ◽  
Control Study

BACKGROUND: Previous studies inferring that theNOS3gene was associated with the pathogenesis of metabolic syndrome (MetS) had inconsistent findings. We investigated the role of threeNOS3polymorphisms (T-786C, intron 4b/a, and G894T) in the risk of MetS using a hospital-based case-control study.METHODS: We recruited 339 MetS cases and 783 non-MetS controls at a central Taiwanese hospital. Information on sociodemographic and lifestyle factors was obtained using a self-administered questionnaire. Genotypes ofNOS3polymorphisms were compared between cases and controls. Effects of interactions between gene polymorphisms and smoking and between gene polymorphisms and drinking on the risk of MetS were also determined.RESULTS: The T-786C TC+CC genotype was significantly associated with a decreased risk of MetS (odds ratio (OR), 0.63; 95% confidence interval (CI), 0.43–0.91), compared to the T-786C TT genotype, according to a logistic regression analysis. This beneficial effect was much greater for those who had ever smoked cigarettes (OR, 0.47; 95% CI, 0.26–0.87) or those who had not consumed alcohol (OR, 0.45; 95% CI, 0.26–0.77). In addition, the intron 4b/a variant genotype was marginally associated with a reduced risk of MetS (OR, 0.68; 95% CI, 0.47–1.00), compared to the intron 4b/a bb genotype, particularly for never alcohol consumers (OR, 0.56; 95% CI, 0.33–0.95). In the haplotype analysis, there was a 53% decrease in the MetS risk among C4bG haplotype carriers (OR, 0.47; 95% CI, 0.25–0.90), compared to those with the most common T4bG haplotype.CONCLUSIONS: Our results suggest that theNOS3T-786C and intron 4b/a polymorphisms may contribute to the risk of MetS. Further studies are needed to confirm the findings.

scholarly journals The Association between Serum Bilirubin Levels and Colorectal Cancer Risk: Results from the Prospective Cooperative Health Research in the Region of Augsburg (KORA) Study in Germany

Antioxidants ◽  
2020 ◽  
Vol 9 (10) ◽  
pp. 908
Author(s):  
Nazlisadat Seyed Khoei ◽  
Gabriele Anton ◽  
Annette Peters ◽  
Heinz Freisling ◽  
Karl-Heinz Wagner
Keyword(s):  
Colorectal Cancer ◽  
Health Research ◽  
High Performance ◽  
A Priori ◽  
Antioxidant Properties ◽  
Positive Association ◽  
Population Based ◽  
Inverse Association ◽  
Control Study

Emerging studies have suggested that bilirubin, particularly unconjugated bilirubin (UCB), has substantial anti-inflammatory and antioxidant properties that protect against oxidative stress-associated diseases such as cancer. Few observational studies have investigated the etiological role of bilirubin in colorectal cancer (CRC) development. In this case-control study, nested in the population-based prospective cohort of the Cooperative Health Research in the Region of Augsburg (KORA) study in south Germany, pre-diagnostic circulating UCB concentrations were measured by high-performance liquid chromatography in 77 CRC cases and their individually matched controls. Multivariable unconditional logistic regression was used to estimate the odds ratios (OR) and 95% confidence intervals (CI) for associations between log-transformed UCB levels (log-UCB), standardized per one-standard-deviation (one-SD) increment, and CRC risk. The models were a priori stratified by sex based on previous evidence. In the fully adjusted models, each one-SD increment in log-UCB was indicative of a positive association with CRC risk (OR, 1.20; 95% CI, 0.52–2.79) among men, and of an inverse association (OR, 0.76; 95% CI, 0.34–1.84) among women (Pheterogeneity = 0.4 for differences between men and women). We found little evidence for sex-specific associations of circulating bilirubin with CRC risk, and further studies are needed to confirm or refute the potential associations.

scholarly journals Understanding maternal mortality in women with obesity and the role of care they receive: a national case-control study

2020 ◽  
Vol 45 (1) ◽  
pp. 258-265
Author(s):  
Monica Saucedo ◽  
◽  
Ana Paula Esteves-Pereira ◽  
Lucile Pencolé ◽  
Agnès Rigouzzo ◽  
...  
Keyword(s):  
Quality Of Care ◽  
Pregnant Women ◽  
Maternal Death ◽  
Case Control Study ◽  
Case Control ◽  
Overweight Women ◽  
Suboptimal Care ◽  
Control Study

Abstract Objective Obesity has significant implications for the health of pregnant women. However, few studies have quantified its association with maternal mortality or examined the relevant underlying causes and the role of care, although this remains the most severe maternal outcome. Our objectives were to quantify the risk of maternal death by prepregnancy body mass index and to determine whether obesity affected the quality of care of the women who died. Desing This is a national population-based case–control study in France. Cases were 364 maternal deaths from the 2007–2012 National Confidential Enquiry. Controls were 14,681 parturients from the nationally representative 2010 perinatal survey. We studied the association between categories of prepregnancy BMI and maternal death by multivariable logistic regression, estimating adjusted odds ratios and 95% confidence intervals, overall and by specific causes of death. Individual case reviews assessed the quality of care provided to the women who died, by obesity status. Results Compared with women with normal BMI, underweight women (<18.5 kg/m2) had an adjusted OR of death of 0.75 (95% CI, 0.42–1.33), overweight women (25–29.9 kg/m2) 1.65 (95% CI, 1.24–2.19), women with class 1 obesity (30–34.9 kg/m2) 2.22 (95% CI, 1.55–3.19) and those with class 2–3 obesity (≥35 kg/m2) 3.40 (95% CI, 2.17–5.33). Analysis by cause showed significant excess risk of maternal death due to cardiovascular diseases, venous thromboembolism, hypertensive complications and stroke in women with obesity. Suboptimal care was as frequent among women with (35/62, 57%) as without obesity (136/244, 56%), but this inadequate management was directly related to obesity among 14/35 (40%) obese women with suboptimal care. Several opportunities for improvement were identified. Conclusions The risk of maternal death increases with BMI; it multiplied by 1.6 in overweight women and more than tripled in pregnant women with severe obesity. Training clinicians in the specificities of care for pregnant women with obesity could improve their outcomes.

scholarly journals Genetic Polymorphism TNFα -308G>A and Ischemic Stroke in Northern Romania

2013 ◽  
Vol 59 (2) ◽  
pp. 75-77
Author(s):  
Felicia Petrișor ◽  
Ra Popp ◽  
Andreea Cătană ◽  
M Porojan ◽  
Iv Pop
Keyword(s):  
Ischemic Stroke ◽  
Population Group ◽  
Control Group ◽  
Restriction Enzyme Digestion ◽  
Cross Sectional ◽  
Mutant Genotype ◽  
Pcr Rflp ◽  
The Relationship ◽  
Control Study

Abstract Introduction: Stroke is one of the leading causes of death in Romania. Evidence in supporting the role of the pro-inflammatory cytokine TNFalpha in ischemic pathogenesis is now well established. The aim of the present study is to evaluate the relationship between TNFα -308G>A polymorphism and ischemic stroke in a Northern Romanian population group and to determine whether it has an influence on the risk of cerebral events. This is a cross-sectional, randomized, case-control study for the evaluation of TNFα -308G>A polymorphism alleles frequency among patients with ischemic stroke. Material and method: The study included 108 patients diagnosed with ischemic stroke (neurological and CT scan examination), and 118 healthy unrelated controls. TNFα -308G>A genotyping was carried out using PCR-RFLP technique. The amplification of the relevant gene fragment was subjected to restriction enzyme digestion, followed by gel electrophoresis. Results: Molecular analysis did not reveal an increased frequency of GA mutant genotype in the study group compared to the control group (p = 0.879, OR = 0.928, CI = 0.512-1.682). Conclusions: We found no significant differences in distribution of the TNFα -308G>A polymorphism between ischemic stroke patients and controls.

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