scholarly journals Oestradiol metabolism and androgen receptor genotypes are associated with right ventricular function

2015 ◽  
Vol 47 (2) ◽  
pp. 553-563 ◽  
Author(s):  
Corey E. Ventetuolo ◽  
Nandita Mitra ◽  
Fei Wan ◽  
Ani Manichaikul ◽  
R. Graham Barr ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Right Ventricular ◽  
Serum Testosterone ◽  
Cross Sectional Study ◽  
Nucleotide Polymorphisms ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Tight Linkage Disequilibrium ◽  
The Relationship ◽  
Rv Function

Sex hormones are linked to right ventricular (RV) function, but the relationship between genetic variation in these pathways and RV function is unknown.We performed a cross-sectional study of 2761 genotyped adults without cardiovascular disease. The relationships between RV measures and single nucleotide polymorphisms (SNPs) in 10 candidate genes were assessed. Urinary oestradiol (E2) metabolites produced by cytochrome P4501B1 (CYP1B1) and serum testosterone were measured in women and men respectively.In African-American (AA) women, the CYP1B1 SNP rs162561 was associated with RV ejection fraction (RVEF), such that each copy of the A allele was associated with a 2.0% increase in RVEF. Haplotype analysis revealed associations with RVEF in AA (global p<7.2×10−6) and white (global p=0.05) women. In white subjects, higher E2 metabolite levels were associated with significantly higher RVEF. In men, androgen receptors SNPs (rs1337080; rs5918764) were significantly associated with all RV measures and modified the relationship between testosterone and RVEF.Genetic variation in E2 metabolism and androgen signalling was associated with RV morphology in a sex-specific manner. The CYP1B1 SNP identified is in tight linkage disequilibrium with SNPs associated with pulmonary hypertension and oncogenesis, suggesting these pathways may underpin sexual dimorphism in RV failure.

scholarly journals Right ventricular ejection fraction as predictor of outcome in acute heart failure using RV ellipsoid model: A retrospective analysis of a prospective cross-sectional study

2021 ◽  
Vol 10 ◽  
pp. 204800402110027
Author(s):  
Eshan Ashcroft ◽  
Otar Lazariashvili ◽  
Jonathan Belsey ◽  
Max Berrill ◽  
Pankaj Sharma ◽  
...  
Keyword(s):  
Heart Failure ◽  
Ejection Fraction ◽  
Right Ventricular ◽  
Retrospective Analysis ◽  
Cross Sectional Study ◽  
Volume Estimation ◽  
Sectional Study ◽  
Cross Sectional ◽  
Ventricular Ejection Fraction ◽  
Rv Function

Objectives The right ventricular (RV) function is an important prognostic factor in acute and chronic heart failure (HF). Echocardiography is an essential imaging modality with established parameters for RV function which are useful and easy to perform. However, these fail to reflect global RV volumes due to reliability on one acoustic window. It is therefore attractive to calculate RV volumes and ejection fraction (RVEF/E) using an ellipsoid geometric model which has been validated against MRI in healthy adults but not in the HF patients. Design This is a retrospective analysis of a prospective cross-sectional study enrolling 418 consecutive patients with symptoms of HF according to a predefined study protocol. All patients underwent echocardiographic assessment of RV function using Tricuspid Annular Plane Systolic Excursion (TAPSE) and RV fractional area change (RVFAC) and RVEF/E. Setting Single centre study with multiple locations for acute in-patients including high dependency units. Participants Patients with acute or exacerbation of chronic HF older than 18 y.o. Main outcome measures Ability of RVEF/E to predict patient outcomes compared with two established parameters of RV function over two-year follow-up period. Primary outcome measure was all-cause mortality. Results RVEF/E is equal to TAPSE & RVFAC in predicting outcome (p ≤ 0.01 vs p ≤ 0.01) and provides additional benefit of RV volume estimation based on standard 2D echo measurements. Conclusions In this study we have shown that RVEF/E derived from ellipsoid model is not inferior to well established measures of RV function as a prognostic indicator of outcome in the acute HF.

scholarly journals Genetic Variants in Smoking-Related Genes in Two Smoking Cessation Programs: A Cross-Sectional Study

2021 ◽  
Vol 18 (12) ◽  
pp. 6597
Author(s):  
Gloria Pérez-Rubio ◽  
Luis Alberto López-Flores ◽  
Ana Paula Cupertino ◽  
Francisco Cartujano-Barrera ◽  
Luz Myriam Reynales-Shigematsu ◽  
...  
Keyword(s):  
Smoking Cessation ◽  
Cross Sectional Study ◽  
Nucleotide Polymorphisms ◽  
Sectional Study ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Genotype Frequencies ◽  
Quitting Smoking ◽  
Genes Encoding ◽  
Genomic Regions

Previous studies have identified variants in genes encoding proteins associated with the degree of addiction, smoking onset, and cessation. We aimed to describe thirty-one single nucleotide polymorphisms (SNPs) in seven candidate genomic regions spanning six genes associated with tobacco-smoking in a cross-sectional study from two different interventions for quitting smoking: (1) thirty-eight smokers were recruited via multimedia to participate in e-Decídete! program (e-Dec) and (2) ninety-four attended an institutional smoking cessation program on-site. SNPs genotyping was done by real-time PCR using TaqMan probes. The analysis of alleles and genotypes was carried out using the EpiInfo v7. on-site subjects had more years smoking and tobacco index than e-Dec smokers (p < 0.05, both); in CYP2A6 we found differences in the rs28399433 (p < 0.01), the e-Dec group had a higher frequency of TT genotype (0.78 vs. 0.35), and TG genotype frequency was higher in the on-site group (0.63 vs. 0.18), same as GG genotype (0.03 vs. 0.02). Moreover, three SNPs in NRXN1, two in CHRNA3, and two in CHRNA5 had differences in genotype frequencies (p < 0.01). Cigarettes per day were different (p < 0.05) in the metabolizer classification by CYP2A6 alleles. In conclusion, subjects attending a mobile smoking cessation intervention smoked fewer cigarettes per day, by fewer years, and by fewer cumulative pack-years. There were differences in the genotype frequencies of SNPs in genes related to nicotine metabolism and nicotine dependence. Slow metabolizers smoked more cigarettes per day than intermediate and normal metabolizers.

scholarly journals Positive association of SCD1 genetic variation and metabolic syndrome in dialysis patients in China

2020 ◽  
Vol 17 (2) ◽  
pp. 111-119
Author(s):  
Yanyan Guo ◽  
Zibo Xiong ◽  
Meiling Su ◽  
Limin Huang ◽  
Jinlan Liao ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Genetic Variation ◽  
Positive Association ◽  
Cross Sectional Study ◽  
Renal Diseases ◽  
Sectional Study ◽  
Dialysis Patients ◽  
Cross Sectional ◽  
Relationship Of ◽  
The Relationship

Aim: Metabolic syndrome (MetS) diagnosed in the dialysis patients is increasingly reported which worsens the prognosis of the renal diseases. The relationship of SCD1 with MetS is largely unknown. The purpose of this study was to investigate the relationship between SCD1 polymorphism and MetS in dialysis patients. Methods: A cross-sectional study was conducted on 323 Chinese dialysis patients, and the correlation between the seven SNPs of SCD1 gene (rs10883465, rs2060792, rs1502593, rs522951, rs3071, rs3978768 and rs1393492) and MetS was analyzed. Results: One tag-SNP (rs1393492) has significantly associated with the prevalence of MetS. Dialysis patients with rs1393492 AA genotype of SCD1 are more prone to MetS (p = 0.021). Conclusion: This study shows that the rs1393492 variations of SCD1 gene are related with the development of MetS in Chinese dialysis patients.

scholarly journals PADI4 Haplotypes in Association with RA Mexican Patients, a New Prospect for Antigen Modulation

2013 ◽  
Vol 2013 ◽  
pp. 1-9 ◽  
Author(s):  
Maria Guadalupe Zavala-Cerna ◽  
Norma Guadalupe Gonzalez-Montoya ◽  
Arnulfo Nava ◽  
Jorge I. Gamez-Nava ◽  
Maria Cristina Moran-Moguel ◽  
...  
Keyword(s):  
Posttranslational Modification ◽  
Association Studies ◽  
Cross Sectional Study ◽  
Arginine Deiminase ◽  
Nucleotide Polymorphisms ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Different Populations ◽  
Citrullinated Peptide ◽  
Susceptibility Haplotype

Peptidyl arginine deiminase IV (PAD 4) is the responsible enzyme for a posttranslational modification called citrullination, originating the antigenic determinant recognized by anti-cyclic citrullinated peptide antibodies (ACPA). Four SNPs (single nucleotide polymorphisms) have been described inPADI4gene to form a susceptibility haplotype for rheumatoid arthritis (RA); nevertheless, results in association studies appear contradictory in different populations. The aim of the study was to analyze if the presence of three SNPs inPADI4gene susceptibility haplotype (GTG) is associated with ACPA positivity in patients with RA. This was a cross-sectional study that included 86 RA patients and 98 healthy controls. Polymorphisms PADI4_89, PADI4_90, and PADI4_92 in thePADI4gene were genotyped. The susceptibility haplotype (GTG) was more frequent in RA patients; interestingly, we found a new haplotype associated with RA with a higher frequency (GTC). There were no associations between polymorphisms and high scores in Spanish HAQ-DI and DAS-28, but we did find an association between RARBIS index and PADI4_89, PADI4_90 polymorphisms. We could not confirm an association between susceptibility haplotype presence and ACPA positivity. Further evidence about proteomic expression of this gene will determine its participation in antigenic generation and autoimmunity.

scholarly journals Molecular characterization of Glucose-6-Phosphate Dehydrogenase: do single nucleotide polymorphisms affect hematological parameters in HIV positive patients?

2020 ◽  
Author(s):  
Kwabena Owusu Danquah ◽  
Kofi Mensah ◽  
Charles Nkansah ◽  
Samuel Kwasi Appiah ◽  
Mark Noagbe ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
G6pd Deficiency ◽  
Hematological Parameters ◽  
Cross Sectional Study ◽  
Nucleotide Polymorphisms ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Mean Cell Volume ◽  
Glucose 6 Phosphate Dehydrogenase

Abstract Objectives: This descriptive, cross-sectional study aimed at evaluating the prevalence of G6PD deficiency, the 376A → G, 202G → A single nucleotide polymorphisms (SNPs) among HIV patients attending care at a teaching hospital in Ghana and determine if the SNPs are associated with a deranged hematological profile. Results: Out of the 200 participants, 13.0% (26/200) were G6PD deficient based on the methemoglobin reductase technique, with 1.5% (3/200) and 11.5% (23/200) presenting with partial and full enzyme defect, respectively. Among the 13.0% participants with G6PD deficiency, 19.2% (5/26), 30.8% (8/26), and 19.2% (5/26) presented with 376A → G only [Enzyme activity (EA): 1.19 U/g Hb], 202G → A only [EA: 1.41 U/g Hb], and G202/A376 SNPs [EA: 1.14 U/g Hb], respectively. Having the 376A → G mutation was associated with lower red blood cell (RBC) count [3.38 x106/µL (3.16-3.46) vs 3.95 x106/µL (3.53-4.41), p=0.010], but higher mean cell volume (MCV) [102.90 (99.40-113.0) vs 91.10 fL (84.65-98.98), p=0.041] and mean cell hemoglobin (MCH) [33.70 pg (32.70-38.50) vs 30.75 pg (28.50-33.35), p=0.038] whereas possessing the 202G → A mutation was associated with higher MCV only [98.90 fL (90.95-102.35) vs 91.10 fL (84.65-98.98), p=0.041] compared to G6PD non-deficient participants.

scholarly journals Impact of Genetic Variability on Physiological Responses to Caffeine in Humans: A Systematic Review

Nutrients ◽  
2018 ◽  
Vol 10 (10) ◽  
pp. 1373 ◽  
Author(s):  
Jacob Fulton ◽  
Petros Dinas ◽  
Andres Carrillo ◽  
Jason Edsall ◽  
Emily Ryan ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Single Nucleotide Polymorphisms ◽  
Genetic Analysis ◽  
Physiological Responses ◽  
Controlled Trials ◽  
Nucleotide Polymorphisms ◽  
Caffeine Consumption ◽  
Cross Sectional ◽  
Single Nucleotide ◽  
Aryl Hydrocarbon

Emerging research has demonstrated that genetic variation may impact physiological responses to caffeine consumption. The purpose of the present review was to systematically recognize how select single nucleotide polymorphisms (SNPs) impact habitual use of caffeine as well as the ergogenic and anxiogenic consequences of caffeine. Two databases (PubMed and EBSCO) were independently searched using the same algorithm. Selected studies involved human participants and met at least one of the following inclusion criteria: (a) genetic analysis of individuals who habitually consume caffeine; (b) genetic analysis of individuals who underwent measurements of physical performance with the consumption of caffeine; (c) genetic analysis of individuals who underwent measurements of mood with the consumption of caffeine. We included 26 studies (10 randomized controlled trials, five controlled trials, seven cross-sectional studies, three single-group interventional studies and one case-control study). Single nucleotide polymorphisms in or near the cytochrome P450 (CYP1A2) and aryl hydrocarbon receptor (AHR) genes were consistently associated with caffeine consumption. Several studies demonstrated that the anxiogenic consequences of caffeine differed across adenosine 2a receptor (ADORA2A) genotypes, and the studies that investigated the effects of genetic variation on the ergogenic benefit of caffeine reported equivocal findings (CYP1A2) or warrant replication (ADORA2A).

scholarly journals Nutrigenomics, individualism and public health

2004 ◽  
Vol 63 (1) ◽  
pp. 161-166 ◽  
Author(s):  
Ruth Chadwick
Keyword(s):  
Public Health ◽  
Genetic Variation ◽  
Functional Foods ◽  
Ethical Issues ◽  
Public Confidence ◽  
Nucleotide Polymorphisms ◽  
Dietary Recommendations ◽  
Single Nucleotide ◽  
The Individual ◽  
The Relationship

Issues arising in connection with genes and nutrition policy include both nutrigenomics and nutrigenetics. Nutrigenomics considers the relationship between specifc nutrients or diet and gene expression and, it is envisaged, will facilitate prevention of diet-related common diseases. Nutrigenetics is concerned with the effects of individual genetic variation (single nucleotide polymorphisms) on response to diet, and in the longer term may lead to personalised dietary recommendations. It is important also to consider the surrounding context of other issues such as novel and functional foods in so far as they are related to genetic modification. Ethical issues fall into a number of categories: (1) why nutrigenomics? Will it have important public health benefits? (2) questions about research, e.g. concerning the acquisition of information about individual genetic variation; (3) questions about who has access to this information, and its possible misuse; (4) the applications of this information in terms of public health policy, and the negotiation of the potential tension between the interests of the individual in relation to, for example, prevention of conditions such as obesity and allergy; (5) the appropriate ethical approach to the issues, e.g. the moral difference, if any, between therapy and enhancement in relation to individualised diets; whether the 'technological fix' is always appropriate, especially in the wider context of the purported lack of public confidence in science, which has special resonance in the sphere of nutrition.

scholarly journals Respiratory chain polymorphisms and obesity in the Spanish population, a cross-sectional study

BMJ Open ◽  
2019 ◽  
Vol 9 (2) ◽  
pp. e027004 ◽  
Author(s):  
Griselda de Marco ◽  
Ana Barbara Garcia-Garcia ◽  
Jose Tomas Real ◽  
Veronica Gonzalez-Albert ◽  
Laisa-Socorro Briongos-Figuero ◽  
...  
Keyword(s):  
Respiratory Chain ◽  
Association Studies ◽  
Mitochondrial Respiratory Chain ◽  
Cross Sectional Study ◽  
Nucleotide Polymorphisms ◽  
Bonferroni Correction ◽  
Obesity Risk ◽  
Additive Interaction ◽  
Cross Sectional ◽  
Single Nucleotide

ObjectiveTo study the association of genes involved in the mitochondrial respiratory chain (MRC) pathway with body mass index (BMI) and obesity risk.DesignThis work studies three cross-sectional populations from Spain, representing three provinces: HORTEGA (Valladolid, Northwest/Centre), SEGOVIA (Segovia, Northwest/centre) and PIZARRA (Malaga,South).SettingForty-eight single nucleotide polymorphisms (SNPs) from MRC genes were selected and genotyped by SNPlex method. Association studies with BMI and obesity risk were performed for each population. These associations were then verified by analysis of the studied population as a whole (3731 samples).ParticipantsA total of 3731 Caucasian individuals: 1502 samples from HORTEGA, 988 from PIZARRA and 1241 from SEGOVIA.Resultsrs4600063 (SDHC), rs11205591 (NDUFS5) and rs10891319 (SDHD) SNPs were associated with BMI and obesity risk (p values for BMI were 0.04, 0.0011 and 0.0004, respectively, and for obesity risk, 0.0072, 0.039 and 0.0038). However, associations between rs4600063 and BMI and between these three SNPs and obesity risk are not significant if Bonferroni correction is considered. In addition, rs11205591 and rs10891319 polymorphisms showed an additive interaction with BMI and obesity risk.ConclusionsSeveral polymorphisms from genes coding MRC proteins may be involved in BMI variability and could be related to the risk to become obese in the Spanish general population.

scholarly journals Effects of Six Functional SNPs on the Urinary 8-Isoprostane Level in a General Japanese Population; Shimane COHRE Study

2011 ◽  
Vol 30 (6) ◽  
pp. 291-298 ◽  
Author(s):  
Yoji Suyama ◽  
Chikashi Matsuda ◽  
Minoru Isomura ◽  
Tsuyoshi Hamano ◽  
Kenji Karino ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Genetic Factors ◽  
Linear Regression Analysis ◽  
Mthfr C677t ◽  
Cross Sectional Study ◽  
Human Populations ◽  
Health Examination ◽  
Nucleotide Polymorphisms ◽  
Cross Sectional ◽  
Single Nucleotide

Oxidative stress is an important risk factor for cardiovascular diseases. Although a variety of genetic factors are assumed to contribute to the regulation of oxidative stress, evidence in human populations is insufficient. In this study, we therefore evaluated the effects of six functional single-nucleotide polymorphisms (SNPs) on the oxidative stress under a cross-sectional study design. Participants of the health examination in two neighboring counties were recruited in a mountainous region of Shimane prefeture, Japan (n= 1092). As a marker for the oxidative stress, the urinary 8-isoprostane (IsoP) was measured by ELISA. The six SNPs were genotyped using the Taqman method. None of the SNPs showed a significant effect on the IsoP level. However, the Generalized Multiple Dimensionality Reduction (GMDR) method identified that the combination of the two SNPs, MTHFR C677T and eNOS T-786C, showed a significant effect on the IsoP level in this population. The linear regression analysis confirmed that the high risk genotype identified in the GMDR was an independent factor influencing the IsoP even after adjustment of confounding factors. This result suggested that GMDR analysis might be useful to identify concealed effects of combined SNPs.

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