scholarly journals Association between rs20456 and rs6930913 of Kinesin-Like Family 6 and Hypertension in a Chinese Cohort

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Yan-li Chen ◽  
Li-Qiang Zheng ◽  
Tie-Jun Li ◽  
Zhao-Qing Sun ◽  
Ying Hao ◽  
...  
Keyword(s):  
Lower Risk ◽  
Smoking Status ◽  
Nucleotide Polymorphisms ◽  
Environmental Interactions ◽  
Gene Environment ◽  
Increased Risk ◽  
Chinese Cohort ◽  
Positive Report ◽  
Analysis Platform ◽  
The Relationship

This study aimed to investigate the relationship between kinesin-like family 6 (KIF6) polymorphisms and hypertension in a northeast Chinese cohort. In this study, two single nucleotide polymorphisms of KIF6 (rs20456 and rs6930913) and their haplotype were analyzed in 382 hypertension patients and 378 controls with SHEsis analysis platform, and the gene-environmental interactions were evaluated with logistic regression analysis. After adjusting for confounding factors, significantly lower risk of hypertension was observed in participants with genotype TC (0.416 (CI 0.299–0.578), p < 0.001 ) and CC (0.577 (0.389–0.857), p = 0.007 ) of rs20456 compared with TT. For rs6930913, allele T (0.522 (0.386–0.704), p < 0.001 ), genotype TT (0.325 (0.205–0.515), p < 0.001 ), and genotype CT (0.513 (0.379–0.693), p < 0.001 ) were significantly associated with lower risk of hypertension than allele C and CC genotype, respectively. Gene-environment analyses confirmed the significant influence on hypertension by the interactions between genotypes distribution in rs20456 (CT: p = 0.036 , TT: p = 0.022 ) and smoking status. No interactions were found between smoking and rs6930913, except those with dominant or recessive genetic models (both P s = 0.006 ). There were no interactions between KIF6 and overweight (all P s > 0.05 ). Haplotype analyses showed that CC ( p = 0.005 ) and TC ( p = 0.001 ) of rs20456 and rs6930913 were significantly associated with a statistically increased risk of hypertension. The false-positive report probability (FPRP) analysis was used to verify significant findings. In conclusions, KIF6 might affect the susceptibility of hypertension. The allele C (rs20456) and allele T (rs690913) were inclined to protect individuals from hypertension both in genotype and haplotype analyses.

Do Cigarette Smokers Have Different Personality Patterns than Non-Smokers?

2013 ◽  
Vol 16 ◽  
Author(s):  
Elisardo Becoña ◽  
Elena Fernández del Río ◽  
Ana López-Durán ◽  
Úrsula Martínez ◽  
Bárbara Piñeiro ◽  
...  
Keyword(s):  
General Population ◽  
Nicotine Dependence ◽  
Smoking Status ◽  
Millon Clinical Multiaxial Inventory ◽  
Increased Risk ◽  
Quitting Smoking ◽  
Personality Pattern ◽  
Key Variables ◽  
Personality Patterns ◽  
The Relationship

AbstractThe aim of the present study is to examine the relationship between cigarette smoking and personality patterns in the general population, taking into account the possible influence of nicotine dependence. We used a stratified random sample of 1,081 adults from the general population (519 smokers and 562 non-smokers) in the region of Galicia (Spain). Personality patterns were assessed with the Millon Clinical Multiaxial Inventory-III (MCMI-III). The results indicated that nicotine-dependent smokers had a higher probability of obtaining a PREV > 75 in the histrionic and antisocial personality patterns and non-nicotine-dependent smokers are more likely to present a PREV > 75 in paranoid personality pattern than non-smokers. On the contrary, non-smokers are more likely to have a PREV > 75 on the compulsive personality scale. Our findings suggest that there are different personality patterns according to smoking status (smoker/non-smoker) and according to the presence of nicotine dependence. We concluded that it is necessary to identify the personality characteristics of smokers, since these characteristics could be key variables in increased risk of being a smoker and of difficulties for quitting smoking.

Contributions of cholinergic receptor muscarinic 1 and CYP1A2 gene variants on the effects of plasma ratio of clozapine/N-desmethylclozapine on working memory in schizophrenia

2020 ◽  
Vol 35 (1) ◽  
pp. 31-39
Author(s):  
Farhana Islam ◽  
Malgorzata Maciukiewicz ◽  
Natalie Freeman ◽  
Eric Huang ◽  
Arun Tiwari ◽  
...  
Keyword(s):  
Working Memory ◽  
Smoking Status ◽  
Memory Performance ◽  
Cholinergic Receptor ◽  
Gene Variants ◽  
Nucleotide Polymorphisms ◽  
Cholinergic Mechanism ◽  
M1 Receptor ◽  
The Relationship ◽  
Cyp1a2 Genotype

Background: Clozapine has heterogenous efficacy in enhancing working memory in schizophrenia. We have previously hypothesized that this is due to opposing effects of clozapine and its metabolite, N-desmethylclozapine, at the muscarinic M1 receptor and demonstrated that a lower clozapine/ N-desmethylclozapine ratio is associated with better working memory than clozapine or N-desmethylclozapine levels alone. Aims: In this study, we expanded the above hypothesis to explore whether genetic variation in the cholinergic receptor muscarinic 1 gene, encoding the M1 receptor, affects the relationship between clozapine/ N-desmethylclozapine and working memory. Further, we explored whether CYP1A2 gene variants affect the ratio of clozapine/ N-desmethylclozapine and by this, working memory performance. Methods: We evaluated two functionally significant single nucleotide polymorphisms, rs1942499 and rs2075748, in cholinergic receptor muscarinic 1, with the haplotype T-A associated with lower transcriptional activity than the haplotype C-G. Further, we examined CYP1A2 *1F, with *1F/*1F conferring high inducibility in the presence of smoking. Results: In a sample of 30 patients with schizophrenia on clozapine monotherapy, clozapine/ N-desmethylclozapine was correlated with working memory only in non-carriers of the haplotype T-A of the cholinergic receptor muscarinic 1 gene. Interaction of CYP1A2 genotype and smoking status significantly affected clozapine concentrations, but there were no significant effects of CYP1A2 genotype and smoking status on the relationship between clozapine/ N-desmethylclozapine on working memory. Conclusions: Our finding that the relationship between clozapine/ N-desmethylclozapine and working memory is specific to patients with potentially higher transcription of M1 receptor (i.e. non-carriers of the haplotype T-A of cholinergic receptor muscarinic 1) supports a cholinergic mechanism underlying this relationship.

Gene–gene and gene–environmental interactions of p53, p21, and IRF-1 polymorphisms in Korean women with cervix cancer

2004 ◽  
Vol 14 (1) ◽  
pp. 118-125
Author(s):  
J. E. Lee ◽  
S. J. Lee ◽  
S. E. Namkoong ◽  
S. J. Um ◽  
J. W. Sull ◽  
...  
Keyword(s):  
Sexual Intercourse ◽  
Cervix Cancer ◽  
Nucleotide Polymorphisms ◽  
Korean Women ◽  
P53 Codon 72 ◽  
Environmental Aspect ◽  
Level Of Education ◽  
First Sexual Intercourse ◽  
Environmental Interactions ◽  
Increased Risk

BackgroundThe aim of this study was to identify gene–gene and gene–environmental factors affecting cervix carcinogenesis in Korean women.MethodsWe evaluated 530 subjects composed of 185 female cervix cancer patients and 345 normal healthy women. The single nucleotide polymorphisms (SNPs) of p53 codon 72, p21 codon 31, and interferon regulatory factor-1 (IRF-1) intron 6 were evaluated from extracted DNA of peripheral blood with an automatic DNA sequencer. The differences of each SNP, gene–gene and gene–environmental interactions between normal controls and patients were evaluated in the adjusted environmental background.ResultsIn the environmental aspect, the rate of cervix cancer increased in the women with a lower level of education, a younger age at first sexual intercourse and more childbearing. The women who had p53 (Arg/Arg), IRF-1 (T/T), and <6 years of education showed a 14.7-fold increased risk of cervix cancer compared to the women who had p53 (∼Pro), IRF-1 (∼C), and >15 years of education. The women who had p53 (Arg/Arg), p21 (Ser/Ser), and >3 children showed a 6.4-fold increased risk of cervix cancer compared to the women who had p53 (∼Pro), p21 (∼Arg), and no children. The women who had p53 (Arg/Arg), IRF-1 (T/T), and first sexual intercourse before 22 years old showed a 5.5-fold increased risk of cervix cancer compared to the women who had p53 (∼Pro), IRF-1 (∼C), and first sexual intercourse after 26 years old.ConclusionsWe found that the level of education, the age at first intercourse, and the number of children were independent risk factors in cervix carcinogenesis. The specific combinations of p53, p21, and IRF-1 gene–gene and gene–environmental interactions were significantly noted in the cervix carcinogenesis of Korean women.

scholarly journals Interaction between ELMO1 gene polymorphisms and environment factors on susceptibility to diabetic nephropathy in Chinese Han population

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Yi Hou ◽  
Yong Gao ◽  
Yan Zhang ◽  
Si-Tong Lin ◽  
Yue Yu ◽  
...  
Keyword(s):  
Diabetic Nephropathy ◽  
Alcohol Drinking ◽  
Control Group ◽  
Environment Interaction ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Gene Environment Interaction ◽  
Gene Environment ◽  
Increased Risk ◽  
Significant Gene

Abstract Background The association of diabetic nephropathy (DN) risk with single nucleotide polymorphisms (SNPs) within Engulfment and Cell Motility 1 (ELMO1) gene and gene–environment synergistic effect have not been extensively examined in, therefore, the purpose of this study is to explore the association between multiple SNPs in ELMO1 gene, and the relationship between gene–environment synergy effect and the risk of DN. Methods Genotyping for 4 SNPs was performed with polymerase chain reaction (PCR) and following restriction fragment length polymorphism (RFLP) methods. Hardy–Weinberg balance of the control group was tested by SNPstats (online software: http://bioinfo.iconologia.net/snpstats). The best combination of four SNPs of ELMO1 gene and environmental factors was screened by GMDR model. Logistic regression was used to calculating the OR values between different genotypes of ELMO1 gene and DN. Results The rs741301-G allele and the rs10255208-GG genotype were associated with an increased risk of DN risk, adjusted ORs (95% CI) were 1.75 (1.19–2.28) and 1.41 (1.06–1.92), respectively, both p-values were < 0.001. We also found that the others SNPs-rs1345365 and rs7782979 were not significantly associated with susceptibility to DN. GMDR model found a significant gene–alcohol drinking interaction combination (p = 0.0107), but no significant gene–hypertension interaction combinations. Alcohol drinkers with rs741301-AG/GG genotype also have the highest DN risk, compared to never drinkers with rs741301-AA genotype, OR (95% CI) 3.52 (1.93–4.98). Conclusions The rs741301-G allele and the rs10255208-GG genotype, gene–environment interaction between rs741301 and alcohol drinking were all associated with increased DN risk.

Cannabis consumption and psychosis or schizophrenia development

2018 ◽  
Vol 64 (7) ◽  
pp. 690-704 ◽  
Author(s):  
María Bettina Ortiz-Medina ◽  
Marta Perea ◽  
Julio Torales ◽  
Antonio Ventriglio ◽  
Giovanna Vitrani ◽  
...  
Keyword(s):  
Cannabis Use ◽  
Psychotic Symptoms ◽  
Current State ◽  
Gene Environment ◽  
Pubmed Database ◽  
Increased Risk ◽  
Vulnerable People ◽  
Cannabis Consumption ◽  
The Relationship

Objective: Cannabis consumption produces psychopathology, in some cases psychotic episodes, which are of our interest in this work. However, the relationship between cannabis use and psychosis has not been fully elucidated. The objectives of this work are to (1) review the current state of knowledge on the association of cannabis use with the risk of the development of psychosis or psychotic symptoms in people without schizophrenia and (2) assess the consistency of the hypothesis that cannabis use is associated with increased risk of psychosis in people without schizophrenia. Method: This work included research done in humans until May 2018 with the keywords ‘cannabis’ and ‘psychosis’, published in English and Spanish, in the PubMed database. Results: In all, 66 papers were analyzed, of which 23 were cohort trials and 43 were reviews. Conclusion: Cannabis use doubles the risk of developing psychosis in vulnerable people. There even exists a relationship regarding the dose used and the age of first use. Gene–environment interactions that modulate the association between cannabis use and the presence of psychosis have also been described.

PADI4 polymorphism predisposes male smokers to rheumatoid arthritis

2010 ◽  
Vol 70 (3) ◽  
pp. 512-515 ◽  
Author(s):  
Yuta Kochi ◽  
Mohamed M Thabet ◽  
Akari Suzuki ◽  
Yukinori Okada ◽  
Nina A Daha ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Smoking Status ◽  
Arginine Deiminase ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Logistic Regression Models ◽  
Environmental Interactions ◽  
Never Smokers ◽  
European Populations

ObjectiveTo elucidate the differential role of peptidyl arginine deiminase 4 (PADI4) polymorphism in rheumatoid arthritis (RA) between Asian and European populations, possible gene–environmental interactions among the PADI4 polymorphism, sex and smoking status were analysed.MethodsThree independent sets of case–control samples were genotyped for single-nucleotide polymorphisms in PADI4; Japanese samples (first set, 1019 RA patients, 907 controls; second set, 999 RA patients, 1128 controls) using TaqMan assays and Dutch samples (635 RA patients, 391 controls) using Sequenom MassARRAY platform. The association of PADI4 with RA susceptibility was evaluated by smoking status and sex in contingency tables and logistic regression models.ResultsIn the first set of Japanese samples, PADI4 polymorphism (rs1748033) showed a greater risk in men (ORallele 1.39; 95% CI 1.10 to 1.76; ptrend=0.0054) than in women and in ever-smokers (ORallele 1.25; 95% CI 1.02 to 1.53; ptrend=0.032) than in never-smokers. Moreover, the highest risk was seen in male ever-smokers (ORallele 1.46; 95% CI 1.12 to 1.90; ptrend=0.0047). Similar trends were observed in the second set of Japanese samples as well as in Dutch samples.ConclusionPADI4 polymorphism highly predisposes male smokers to RA, and the genetic heterogeneity observed between Asian and European populations may be partly explained by differences in smoking prevalence among men.

scholarly journals Association of MIR17HG and MIR155HG gene variants with steroid-induced osteonecrosis of the femoral head in the population of northern China

2021 ◽  
Author(s):  
Tingting Liu ◽  
Yuju Cao ◽  
Changxu Han ◽  
Feimeng An ◽  
Tiantian Wang ◽  
...  
Keyword(s):  
Femoral Head ◽  
Gene Mutations ◽  
Density Lipoprotein ◽  
Northern China ◽  
Recessive Model ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Clinical Indicators ◽  
Increased Risk ◽  
The Relationship

Abstract IntroductionSteroid-induced osteonecrosis of the femoral head (ONFH ) is a disease of bone metabolism, and genetic factors are generally considered to play an important role. The purpose of this study was to investigate the relationship between single nucleotide polymorphisms (SNPs) in MIR17HG and MIR155HG and the risk of steroid-induced ONFH in the population of northern China.MethodsA total of 199 steroid-induced ONFH patients and 506 healthy controls were recruited for the study. Four SNPs of MIR17HG and seven SNPs of MIR155HG were genotyped by Sequenom MassARRAY. ORs and 95% CIs were used to evaluate the relationship between these SNPs and steroid-induced ONFH.ResultsIn the codominant model, patients with the MIR17HG SNPs(rs7318578) AA genotype had an increased risk of steroid-induced ONFH (OR = 1.79, p = 0.039), in the recessive model, patients with the MIR17HG SNP(rs7318578) AA genotype had an increased risk of steroid-induced ONFH (OR = 1.78, p = 0.032). Stratified analysis showed that a MIR17HG SNP (rs7318578) and MIR155HG SNPs(rs77218221, rs11911469, rs34904192 and rs4143370) were closely related to different unornamented phenotypes of steroid-induced ONFH. Analysis of the clinical indicators revealed significant differences in high-density lipoprotein (HDL-C) levels between the ONFH group and the control group (p = 0.005). MIR17HG SNP(rs75267932) and MIR155HG SNPs(rs77699734, rs1893650 and rs34904192) were correlated with different lipid indexes.ConclusionOur results confirm that MIR17HG and MIR155HG gene mutations are associated with steroid-induced ONFH susceptibility in the population of northern China, providing new evidence for the early detection and prevention of ONFH.

scholarly journals Correlations of PD-1/PD-L1 Gene Polymorphisms with Susceptibility and Prognosis in Non-Hodgkin lymphoma in Iranian Population

2020 ◽  
Author(s):  
hosnie hoseini ◽  
Parichehreh Yaghmaei ◽  
Gholamreza Bahari ◽  
saeed aminzadeh
Keyword(s):  
Hodgkin Lymphoma ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Non Hodgkin Lymphoma ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Prognosis Marker ◽  
Pcr Method ◽  
Programed Cell Death ◽  
The Relationship

Abstract Background, Programed cell death 1 (PD-1) and its ligand (PD-L1) activity have already detected in various cancers. In non-Hodgkin lymphoma (NHL), however, the prognostic value of PD-1/PD-L1 genes polymorphisms and expression levels remains unclear. In the present study we aimed to investigate the relationship between genetic polymorphisms of PD-1/PD-L1 genes and non-Hodgkin lymphoma in Iranian papulation. Methods , four single nucleotide polymorphisms of the PD-1/PD-L1 genes, including 134 NHL patients and 125 healthy controls were examined using PCR-RFLP method. The expression level of PD-1/PD-L1 genes were analyzed using real time PCR method. Results , our data demonstrated that the PD-L1 rs2890685 (A>C) SNP (p<0.0001) significantly was associated with increased risk of NHL. The AA genotype of PD-L1 rs2890685 polymorphism was found to be more prevalent in NHL patents compared to healthy controls. No significant association were found between PD-L1 rs4143815, PD-1 rs11568821, PD-1rs2227981 SNPs and the risk of NHL incidence. Furthermore, our data showed that the mRNA transcription levels of both PD-1 and PD-L1 were significantly higher than normal healthy controls (p<0.001). Conclusion , Collectively, our finding demonstrated that the functional PD-L1 rs2890685 polymorphism was associated with NHL risk, suggesting that genetic variant of PD-L1 might be a possible prognosis marker for prediction of NHL risk and its development.

The Effect of Smoking on the Relationship between Alcohol Consumption and All-Cause Mortality in Canadian Women

2005 ◽  
Vol 32 (3) ◽  
pp. 373-386
Author(s):  
Jürgen Rehm ◽  
Bo Zhang ◽  
Susan Bondy ◽  
Mary Jane Ashley ◽  
Joanna Cohen ◽  
...  
Keyword(s):  
Alcohol Consumption ◽  
Protective Effect ◽  
Lower Risk ◽  
Smoking Status ◽  
Moderate Drinking ◽  
Risk Of Mortality ◽  
Heavy Drinkers ◽  
All Cause Mortality ◽  
The Relationship ◽  
Effect Of Light

The protective effect of light to moderate drinking on all-cause mortality in general is well established, but there have been questions on its generalizability to women and non-smokers. The present study addresses these questions with a large cohort of Canadian middle-aged women. The key findings indicate that light to moderate drinkers have a markedly lower risk of mortality compared with current abstainers and that this effect is independent of smoking status. Part of this effect may be due to ex-drinkers who are part of the current abstainers group. Heavy drinkers have a higher mortality risk than light to moderate drinkers.

scholarly journals The relationship between Fas and Fas ligand gene polymorphism and preeclampsia risk

2019 ◽  
Vol 39 (2) ◽  
Author(s):  
Tingting Wang ◽  
Yunyun Lian
Keyword(s):  
Fas Ligand ◽  
Meta Analysis ◽  
Cochrane Library ◽  
Nucleotide Polymorphisms ◽  
Multisystem Disorder ◽  
Increased Risk ◽  
Fasl Gene ◽  
The Cochrane Library ◽  
The Relationship ◽  
Risk Of Preeclampsia

Abstract Preeclampsia is an idiopathic multisystem disorder with partial genetic and immunological etiology. Several studies investigated the association between various single-nucleotide polymorphisms (SNPs) in Fas and Fas ligand (FasL) genes and the risk of preeclampsia. However, they achieved inconsistent results. Therefore, we conducted a meta-analysis by systematically searching the Cochrane Library, PubMed and Embase databases and assessed this association by calculating pooled odds ratios with 95% confidence interval to reach a more trustworthy conclusion. Subgroup analyses by genotype methods and source of controls (SOC) were also conducted. Seven citations containing nine studies were included for four SNPs (Fas -670 A/G, FasL 124A/G, FasL -844C/T, Fas -1377 G/A) in this meta-analysis. Our data suggested the G allele and genotype GG of the Fas -670 A/G polymorphism, GG genotype of the FasL 124A/G polymorphism, and TT genotype of the FasL -844C/T polymorphism increased the risk of preeclampsia. Stratification analyses by genotype methods and SOC also indicated that Fas -670 A/G polymorphism was related to increased risk for preeclampsia. In conclusion, Fas and FasL gene polymorphisms play important roles in the development of preeclampsia. Further well-designed studies in other races are needed to confirm the findings of this meta-analysis.

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