Genetics of cardiovascular disease: Importance of sex and ethnicity

Winham, Stacey J.; Andrade, Mariza de; Miller, Virginia M.

doi:10.1016/j.atherosclerosis.2015.03.021

Cited by 102 publications

(70 citation statements)

References 119 publications

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“…Gender as a risk factor for atherosclerosis has already been widely studied, and it has a strong tendency towards male gender due to genetic, hormonal, and even cultural reasons (Winham, et al, 2015). However, when the relationship between the G894T polymorphism of the eNOS gene between the case and control groups with both male and female genotypes was evaluated in our study, no statistical difference was found.…”

Section: Discussioncontrasting

confidence: 66%

Polymorphism of the gene eNOS G894T (Glu298Asp) in symptomatic patients with aterosclerosis

Campedelli¹,

Silva²,

Rodrigues³

et al. 2017

Genet. Mol. Res.

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ABSTRACT. Atherosclerotic and its cardiovascular complications are responsible for 17.5 million deaths a year, according to the World Health Organization. There is consensus that atherosclerosis involves multiple pathogenic processes initiated by endothelial dysfunction, with inflammation and vascular proliferation determining alterations in the matrix, with consequent formation of the atheromatous plaque and its clinical implications. Risk factors such as hypertension, diabetes mellitus, dyslipidemia, and smoking are widely known. Currently, genotyping, which is not directly related to these factors, is not accepted to estimate the risk of cardiovascular diseases, but strong evidence indicates several polymorphic genes as factors of risk and progression leading to complications of the disease. Among the genes involved, eNOS (endothelial nitric oxide synthase gene), which is responsible for the production of endothelial nitric oxide (an important arterial vasodilator), when presented in polymorphic variation can determine production, malfunction, and predisposition to atherosclerosis. In the present study, we analyzed the G894T polymorphism of the eNOS gene in groups of individuals diagnosed with atherosclerosis and in a control group. We collected 200 blood samples from patients previously diagnosed with atherosclerosis and 100 samples formed the control group. The genotyping analysis for polymorphism of the eNOS gene was determined by PCR. We considered variables such as gender, smoking, smoking history, and alcohol consumption; statistical differences were found in the distribution of case and control groups (P = 0.0378) and in non-smoking patients (P = 0.0263). In the other associations, no statistically significant difference was found. In the population studied, the frequency of the heterozygous genotype (GT) was much higher than in the other populations (GG and TT) in both groups (case and control). The GG genotype showed greater susceptibility to atherosclerosis. Association of the GG genotype in non-smokers also showed greater susceptibility. Gender, alcohol consumption, smoking, and smoking history did not influence atherosclerosis.

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Section: Discussioncontrasting

confidence: 66%

Polymorphism of the gene eNOS G894T (Glu298Asp) in symptomatic patients with aterosclerosis

Campedelli¹,

Silva²,

Rodrigues³

et al. 2017

Genet. Mol. Res.

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“…Several studies have documented the role of SNPs in various genes in the escalating risk of CAD [18, 19]. PON1 is known to play important roles such as an antioxidant, anti-inflammatory, and antiatherosclerotic functions by preventing LDL oxidation [20].…”

Section: Discussionmentioning

confidence: 99%

Paraoxonase 1 Gene Polymorphisms (Q192R and L55M) Are Associated with Coronary Artery Disease Susceptibility in Asian Indians

Kaur

Bhatti

Vijayvergiya

et al. 2018

Dubai Diabetes Endocrinol J

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Background: Coronary artery disease (CAD) is a complex metabolic disorder in which lifestyle and genetic factors are known to play key roles in pathogenesis. The paraoxonase 1 (PON1) enzyme has a defensive effect against CAD progression, as it safeguards low-density lipoproteins (LDLs) from oxidative modifications. The most extensively studied genetic variants in the PON1 gene are Q192R and L55M, which have been related with LDL antioxidative activity and risk of CAD. Objective: The present case-control study intended to examine the Q192R and L55M polymorphisms and their association with the risk of CAD patients in north Indians. Methods: A total of 872 subjects (412 CAD patients and 460 controls) were recruited from north India. The PON1 gene was amplified and genotypes were studies using PCR-RFLP. χ² analysis was performed to compare genotype/allele frequencies in patients and controls. Results: The present study indicated abdominal obesity, elevated body mass index, and dyslipidemia with increased levels of total cholesterol and triglycerides as well as reduced high-density lipoprotein cholesterol in CAD subjects compared to healthy controls (p < 0.05). Logistic regression analysis of the data revealed an association of the RR genotype of the Q192R polymorphism with an about 2-fold elevated risk of CAD (OR = 2.23, 95% CI = 1.47–3.37, p = 0.0001). Contrariwise, the L55M polymorphism did not show significant association with CAD (OR = 1.81, 95% CI = 0.66–4.95, p = 0.326). Conclusions: The Q192R polymorphism in the PON1 gene may be a susceptibility gene associated with increased risk of CAD in an Asian Indian population.

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“…[12][13][14] In females, variants in genes on the X chromosome that undergo X inactivation typically show mosaic expression of the phenotype in a particular tissue or system, or may lead to skewed lyonization. [15][16][17][18] As the reproductive organs form, sex steroid hormones differing between males and females will be secreted and influence body size, organ size, tissue composition (lean body mass, body fat), gastric acid secretion, gastric emptying time, circulating proteins that may bind medications, renal function, immune reactivity, and drug metabolizing enzymes; 19 all of which influence absorption, distribution, metabolism, and elimination of drugs. While many of these differences may influence medication efficacy and toxicity can be attributed, in part, to underlying differences in hormone expression, hormonal status and potential interactions of pharmaceuticals with pathways modulated by sex steroids are usually not considered in preclinical studies for drug development, clinical trials, or reporting of ADRs.…”

Section: Physiologic Differencesmentioning

confidence: 99%

Individualized medicine: Sex, hormones, genetics, and adverse drug reactions

Moyer

Matey

Miller

2019

Pharmacology Res & Perspec

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Clinically relevant adverse drug reactions differ between men and women. The underlying physiological and pharmacological processes contributing to these differences are infrequently studied or reported. As gene expression, cellular regulatory pathways, and integrated physiological functions differ between females and males, aggregating data from combined groups of men and women obscures the ability to detect these differences. This paper summarizes how genetic sex, that is, the presence of sex chromosomes XY for male or XX for female, and the influence of sex hormones affect transporters, receptors, and enzymes involved in drug metabolism. Changing levels of sex steroids throughout life, including increases at puberty, changes with pregnancy, and decreases with age, may directly and indirectly affect drug absorption, distribution, metabolism, and elimination. The direct and indirect effects of sex steroids in the form of exogenous hormones such as those used in hormonal contraceptives, menopausal hormone treatments, transgender therapy, and over‐the‐counter performance enhancing drugs may interfere with metabolism of other pharmaceuticals, and these interactions may vary by dose, formulation, and mode of delivery (oral, injection, or transdermal) of the steroid hormones. Few drugs have sex‐specific labeling or dosing recommendations. Furthermore, there is limited literature evaluating how the circulating levels of sex steroids impact drug efficacy or adverse reactions. Such research is needed in order to improve the understanding of the impact of sex hormones on pharmacological therapies, particularly as medicine moves toward individualizing treatments.

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Genetics of cardiovascular disease: Importance of sex and ethnicity

Cited by 102 publications

References 119 publications

Polymorphism of the gene eNOS G894T (Glu298Asp) in symptomatic patients with aterosclerosis

Polymorphism of the gene eNOS G894T (Glu298Asp) in symptomatic patients with aterosclerosis

Paraoxonase 1 Gene Polymorphisms (Q192R and L55M) Are Associated with Coronary Artery Disease Susceptibility in Asian Indians

Individualized medicine: Sex, hormones, genetics, and adverse drug reactions

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