Myeloperoxidase (MPO) Gene Polymorphism Confers Cirrhotic Patients with Hepatopulmonary Syndrome

2011 ◽  
Vol 183-185 ◽  
pp. 1307-1311
Author(s):  
Jing Yu ◽  
Bing Quan Zhang ◽  
Na Zhang ◽  
Yan Ying Wang ◽  
Ya Juan Zhai ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Gene Polymorphisms ◽  
Hepatopulmonary Syndrome ◽  
Promoter Polymorphism ◽  
Mrna Transcription ◽  
Expression Levels ◽  
Cirrhotic Patients ◽  
The Individual

In this study,we investigated the–463G/A promoter polymorphism of the MPO gene,in an attempt to explore the role of MPO in the pathogenesis of HPS caused by cirrhosis.The polymorphism of the MPO gene means the individual genotypes have different initial mRNA transcription activities and different expression levels,which further influences the activities of enzymes and results in the variation in disease susceptibility.This paper addresses gene polymorphisms play a key role in the development of HPS in cirrhotic patients.

scholarly journals Analysis of the association between CDH2 gene polymorphism and osteoarthritis risk

2018 ◽  
Vol 34 ◽  
pp. 105-112 ◽  
Author(s):  
Guanglei Zhao ◽  
Jingsheng Shi ◽  
Jun Xia
Keyword(s):  
Gene Polymorphism ◽  
Chinese Population ◽  
Functional Score ◽  
Tissue Samples ◽  
Gender Stratification ◽  
Expression Levels ◽  
Study Population ◽  
Severity Of The Disease ◽  
And Control

Objective: to define the cadherin 2 (CDH2) gene polymorphism in Chinese osteoarthritis and control populations and to explore the correlation between CDH2 gene polymorphism and the risk of osteoarthritis. Method: a total of 476 patients with osteoarthritis were collected and 380 control subjects were included in the study. Clinical data such as gender, age and functional score were collected. The blood and tissue samples were collected and genotyped by PCR. Data analysis was performed using SPSS 19.0, Hapioview 4.2 and SNPstats softwares. Results: the association of rs11083271 and osteoarthritis was initially validated in this study population (P = 0.016, OR = 1.43 (1.07- 1.93)]. The risk of OA was significantly higher in heterozygous T/C than in homozygous T/T and C/C in rs11083271. By adjusting the age, according to gender stratification analysis, the heterozygous T/C genotype in rs11083271 significantly increased the risk of OA incidence in males [p = 0.011, 3.40 (1.55-7.43)]. The remaining rs sites were not significantly associated with OA. Notably, the association of rs11564299 with OA, regardless of genotyping, gene frequency and RNA expression levels in the study population, was not confirmed. Conclusion: in this study, we have analyzed the association between CDH2 gene polymorphism and OA in Chinese population. We found that rs11083271 heterozygous T/C genotype significantly increases the risk of OA and the severity of the disease. By contrast, the rs11564299 locus and OA have no significant correlation in the Chinese population. The role of rs11083271 in the regulation of CDH2 expression levels and the mechanisms by which it impacts OA remain to be further studied.

scholarly journals CYP11B2 −344T/C Gene Polymorphism and Blood Pressure in Patients with Acromegaly

2006 ◽  
Vol 91 (12) ◽  
pp. 5008-5012 ◽  
Author(s):  
Paolo Mulatero ◽  
Franco Veglio ◽  
Pietro Maffei ◽  
Marta Bondanelli ◽  
Silvia Bovio ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Gene Polymorphism ◽  
Odds Ratio ◽  
Gene Polymorphisms ◽  
Antihypertensive Treatment ◽  
Outcome Measure ◽  
Significant Proportion ◽  
Igf I ◽  
Sodium Handling

Abstract Context: The pathogenesis of increased blood pressure (BP) in acromegaly is unclear, and the role of IGF-I levels and the renin-angiotensin-aldosterone system (RAAS) in this disease remains controversial. Objective and Design: The aim of this study was to investigate the role of gene polymorphisms of the RAAS and involved in sodium handling on BP in acromegaly. Setting and Patients: We conducted a multicentric retrospective study that included 100 consecutive patients with acromegaly referred during the period 2000–2003. Intervention: All patients were genotyped for ACE I/D, AGT M235T, CYP11B2 −344T/C, B2R −58T/C, and α-adducin G460W polymorphisms. Main Outcome Measure: We assessed the prevalence of hypertension and BP according to the genotype. Results: Patients with the CYP11B2 −344CC genotype displayed a significant increase in the risk of hypertension compared with patients with CT/TT genotypes (odds ratio = 4.0; 95% confidence interval = 1.4–11.6; P = 0.01). Consistently, a significant proportion of patients with the CYP11B2 −344CC genotypes were under antihypertensive treatment (73.1%) compared with patients with the TT/TC genotypes (38.2%; P = 0.003). Patients with the −344CC genotype displayed a significant increase in systolic BP (10.2 ± 4.3 mm Hg; P = 0.02) but not a significant increase in diastolic BP (2.6 ± 2.6 mm Hg; P = 0.32) compared with patients with the CT/TT genotype. Conclusions: We have shown an association of the −344T/C CYP11B2 gene polymorphism with BP in patients affected by acromegaly. These findings suggest that the RAAS is implicated in the pathogenesis of hypertension in acromegaly.

scholarly journals Cytogenetic effects among workers exposed to formaldehyde. The possible role of some polymorphisms

2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
F Ghelli ◽  
V Bellisario ◽  
M Buglisi ◽  
E Cocchi ◽  
R Bono ◽  
...  
Keyword(s):  
Genetic Polymorphisms ◽  
Gene Polymorphisms ◽  
Hospital Setting ◽  
Peripheral Blood Lymphocytes ◽  
Mean Value ◽  
Sister Chromatid Exchanges ◽  
Control Group ◽  
Health Studies ◽  
The Individual

Abstract Background Formaldehyde (FA) is a human carcinogen. It is commonly used in diluted form as formalin. The purpose of this work was to evaluate the frequencies of chromosomal aberrations (CAs) and sister chromatid exchanges (SCEs) as a consequence of the exposure to FA in a hospital setting, taking into account the role of some polymorphisms in developing genotoxic damage. Methods CAs and SCEs assays were performed on peripheral blood lymphocytes of 57 pathologists enrolled in Turin hospitals (Italy) and 48 unexposed enrolled as controls. All subjects were genotyped for CYP1A1 exon 7 (A>G), CYP1A1*2A (T>C), CYP2C19*2 (G>A), GSTT1 (Positive/Null), GSTM1 (Positive/null), GSTP1 (A>G), XRCC1 (G399A), XRCC1 (C194T), XRCC1 (A280G), XPD (A751C), XPC exon 15 (A939C), XPC exon 9 (C499T), TNFα -308 (G>A), IL10 -1082 (G>A), IL10 -819 (C>T) and IL6 -174 (G>C) gene polymorphisms. Due to the little number of recessive homozygotes, we compared the dominant genotype with the combined group of heterozygotes and recessive homozygotes. Results Among pathologists, the mean value of personal air-FA was 64.2 µg/m3, mean significantly higher (p = 0.000) than controls (19.1 µg/m3). Similarly, pathologists showed significantly higher values of SCEs (p = 0.009) and CAs (p = 0.000) with respect to controls. In the same group, CYP2C19*2 (p = 0.011), XRCC1 (G399A) (p = 0.007), and IL10 (-1082) (p = 0.042) gene polymorphisms influenced the CAS levels, as well as those of CYP1A1 exon 7 (p = 0.010), XPD A751C (p = 0.002), XPC C499T (p = 0.040), and IL10 (-819) (p = 0.005) the levels of SCEs. In control group, CAs resulted significantly lower in CYP1A1 exon 7 dominant homozygotes (p = 0.001). Conclusions Our study confirms the role of FA as an inductor of genotoxicity, even when, daily, workers are exposed to low FA levels. Some genetic polymorphisms seem to have an influence in modulating the effect of FA exposure, highlighting, in occupational health studies, the role of the individual susceptibility. Key messages FA exposure is confirmed to be a genotoxicity inductor even at low concentrations. Some genetic polymorphisms seem to have a role in the modulation of FA exposure-related damage.

scholarly journals IL-6 gene polymorphisms and sepsis in icu adult romanian patients: a prospective study

2017 ◽  
Vol 25 (1) ◽  
pp. 75-89 ◽  
Author(s):  
Anca Meda Georgescu ◽  
Claudia Bănescu ◽  
Iudita Badea ◽  
Valeriu Moldovan ◽  
Adina Huțanu ◽  
...  
Keyword(s):  
Septic Shock ◽  
Gene Polymorphism ◽  
Organ Dysfunction ◽  
Gene Polymorphisms ◽  
Control Group ◽  
Direct Role ◽  
Sepsis Diagnosis ◽  
Genotype Frequencies ◽  
Sepsis Risk

Abstract Objectives: The goal of the study was to investigate the correlations between the interleukin-6 IL-6 -174 G/C and IL-6 -572 G/C gene polymorphisms and sepsis risk and severity in adult ICU patients. Materials and Methods: We prospectively assessed 107 septic patients and divided them into two subgroups: organ dysfunction-free sepsis subgroup S (n=60) and septic shock subgroup SS (n=47). A control group of 96 healthy individuals was included. Both patients and controls underwent IL-6 -174 G/C and -572 G/C genotyping and circulating IL-6 in the study group which were measured from samples taken in the first day of sepsis diagnosis. Results: No differences in the genotype frequencies of the two polymorphisms between study and control groups were identified. The GC genotype and C allele of IL-6 -572 G/C gene polymorphism was statistically significant more frequent in the organ dysfunction-free subgroup (p=0.01, p=0.004 respectively). No statistically significant differences for the IL-6 -174 G/C gene polymorphism were found between the two sepsis subgroups. Circulating IL-6 levels were significantly higher in the septic shock subgroup and among patients with GG genotypes of both studied polymorphisms. Conclusion: We underline the possible role of IL-6 -572 G/C as a marker of severe evolution. There is no evidence of a direct role of IL-6 -174 G/C gene polymorphism in sepsis risk and outcome. Il-6 levels are correlated with sepsis severity but not with variant genotype of investigated IL-6 gene polymorphisms.

Role of angiogenic factors/cell adhesion markers in serum of cirrhotic patients with hepatopulmonary syndrome

2014 ◽  
Vol 35 (5) ◽  
pp. 1499-1507 ◽  
Author(s):  
Sarah Raevens ◽  
Stephanie Coulon ◽  
Christophe Van Steenkiste ◽  
Roos Colman ◽  
Xavier Verhelst ◽  
...  
Keyword(s):  
Cell Adhesion ◽  
Hepatopulmonary Syndrome ◽  
Angiogenic Factors ◽  
Cirrhotic Patients

A systematic review and critical appraisal of gene polymorphism association studies in medication-overuse headache

Cephalalgia ◽  
2017 ◽  
Vol 38 (7) ◽  
pp. 1361-1373 ◽  
Author(s):  
Sarah Cargnin ◽  
Michele Viana ◽  
Grazia Sances ◽  
Cristina Tassorelli ◽  
Salvatore Terrazzino
Keyword(s):  
Systematic Review ◽  
Gene Polymorphism ◽  
Gene Polymorphisms ◽  
Medication Overuse ◽  
Association Studies ◽  
Medication Overuse Headache ◽  
Headache Disorder ◽  
Susceptibility Factors ◽  
Headache Patients

Purpose of review Medication-overuse headache is a secondary chronic headache disorder, evolving from an episodic primary headache type, caused by the frequent and excessive use of headache symptomatic drugs. While gene polymorphisms have been deeply investigated as susceptibility factors for migraine, little attention has been paid to medication-overuse headache genetics. In the present study we conducted a systematic review to identify, appraise and summarize the current findings of gene polymorphism association studies in medication-overuse headache. Methods A comprehensive literature search was conducted on PubMed and Web of Knowledge databases of primary studies that met the diagnostic criteria for medication-overuse headache according to the temporally-relevant Classification of Headache Disorder of the International Headache Society. Results A total of 17 candidate gene association studies focusing on medication-overuse headache were finally included in the qualitative review. Among these, 12 studies investigated the role of common gene polymorphisms as risk factors for medication-overuse headache susceptibility, six studies focused on the relationship with clinical features of medication-overuse headache patients, and four studies evaluated their role as determinants of clinical outcomes in medication-overuse headache patients. Conclusion Results of single studies show a potential role of polymorphic variants of the dopaminergic gene system or of other genes related to drug-dependence pathways as susceptibility factors for disease or as determinants of monthly drug consumption, respectively. In this systematic review, we summarize the findings of gene polymorphism association studies in medication-overuse headache and discuss the methodological issues that need to be addressed in the design of future studies.

School Success and School Engagement of Immigrant Children and Adolescents

2013 ◽  
Vol 18 (2) ◽  
pp. 126-135 ◽  
Author(s):  
Frosso Motti-Stefanidi ◽  
Ann S. Masten
Keyword(s):  
Academic Achievement ◽  
Academic Success ◽  
Children And Adolescents ◽  
School Engagement ◽  
School Success ◽  
Immigrant Children ◽  
Integrative Model ◽  
High Stakes ◽  
The Individual

Academic achievement in immigrant children and adolescents is an indicator of current and future adaptive success. Since the future of immigrant youths is inextricably linked to that of the receiving society, the success of their trajectory through school becomes a high stakes issue both for the individual and society. The present article focuses on school success in immigrant children and adolescents, and the role of school engagement in accounting for individual and group differences in academic achievement from the perspective of a multilevel integrative model of immigrant youths’ adaptation ( Motti-Stefanidi, Berry, Chryssochoou, Sam, & Phinney, 2012 ). Drawing on this conceptual framework, school success is examined in developmental and acculturative context, taking into account multiple levels of analysis. Findings suggest that for both immigrant and nonimmigrant youths the relationship between school engagement and school success is bidirectional, each influencing over time the other. Evidence regarding potential moderating and mediating roles of school engagement for the academic success of immigrant youths also is evaluated.

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