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ACE2 receptor polymorphism: Susceptibility to SARS-CoV-2, hypertension, multi-organ failure, and COVID-19 disease outcome.
Devaux, CA, Rolain, JM, Raoult, D
Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi. 2020;(3):425-435
Abstract
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has emerged in Chinese people in December 2019 and has currently spread worldwide causing the COVID-19 pandemic with more than 150,000 deaths. In order for a SARS-CoV like virus circulating in wild life for a very long time to infect the index case-patient, a number of conditions must be met, foremost among which is the encounter with humans and the presence in homo sapiens of a cellular receptor allowing the virus to bind. Recently it was shown that the SARS-CoV-2 spike protein, binds to the human angiotensin I converting enzyme 2 (ACE2). This molecule is a peptidase expressed at the surface of lung epithelial cells and other tissues, that regulates the renin-angiotensin-aldosterone system. Humans are not equal with respect to the expression levels of the cellular ACE2. Moreover, ACE2 polymorphisms were recently described in human populations. Here we review the most recent evidence that ACE2 expression and/or polymorphism could influence both the susceptibility of people to SARS-CoV-2 infection and the outcome of the COVID-19 disease. Further exploration of the relationship between the virus, the peptidase function of ACE2 and the levels of angiotensin II in SARS-CoV-2 infected patients should help to better understand the pathophysiology of the disease and the multi-organ failures observed in severe COVID-19 cases, particularly heart failure.
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Genetic Association of Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy.
Chen, LJ
Asia-Pacific journal of ophthalmology (Philadelphia, Pa.). 2020;(2):104-109
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Abstract
Age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV) are leading causes of irreversible blindness among the elderly population in developed countries. Although being considered as different subtypes of a same disease, neovascular AMD and PCV have differences in clinical, epidemiological, therapeutic, and genetic profiles. Both AMD and PCV are complex diseases involving multiple genetic and environmental risk factors. Different genetic strategies have been adopted to discover associated genes and variants for neovascular AMD and PCV, including genome-wide association study (GWAS), next-generation sequencing (NGS) based sequence analysis, and candidate gene analyses. So far, a number of susceptible genes have been identified for AMD and/or PCV, such as CFH, ARMS2-HTRA1, C2-CFB-SKIV2L, C3, CETP, and FGD6. Although many of these genes are shared by AMD and PCV, some showed difference between them, such as ARMS2-HTRA1 and FGD6. Also, some of the genes showed ethnic diversities, such as the CFH p.Tyr402His variant. Further larger-scale genomic studies should be warranted to identify more susceptibility genes for AMD and, in particular, PCV among different populations, and differentiate the genetic architectures between neovascular AMD and PCV.
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A review of inherited cancer susceptibility syndromes.
Brown, GR, Simon, M, Wentling, C, Spencer, DM, Parker, AN, Rogers, CA
JAAPA : official journal of the American Academy of Physician Assistants. 2020;(12):10-16
Abstract
Inherited cancer syndromes are caused by genetic mutations that place patients at an increased risk for developing cancer. Although most cancers are not caused by genetic inheritance, clinicians must understand these syndromes and be able to recognize their common characteristics. A thorough family history and identification of common patterns as well as specific clinical signs and symptoms can help with early recognition. This article describes symptoms of the more common cancer syndromes, including hereditary breast and ovarian cancer, Li-Fraumeni, Lynch, familial adenomatous polyposis, retinoblastoma, multiple endocrine neoplasia, and von Hippel-Lindau. Important patient education regarding genetic testing also is covered.
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Risk factors, diagnosis, prognosis and treatment of autism.
Styles, M, Alsharshani, D, Samara, M, Alsharshani, M, Khattab, A, Qoronfleh, MW, Al-Dewik, NI
Frontiers in bioscience (Landmark edition). 2020;(9):1682-1717
Abstract
The prevalence rate of Autism Spectrum Disorder (ASD) has reached over 1% world-wide prompting governments, health providers and schools to develop programs and policies to address this challenging disorder. Here, we review the cause(s), as well as environmental factors, genetic mutations, and neural pathways that are implicated in ASD. We also discuss the criteria that are commonly used for the diagnosis of ASD and future clinical genetic testing that can aid in the diagnosis of this disorder. Finally, we provide practical steps that can be used to reduce the incidence and severity of ASD, as well as prognosis and treatment of autism.
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Obesity and eating behavior from the perspective of twin and genetic research.
Silventoinen, K, Konttinen, H
Neuroscience and biobehavioral reviews. 2020;:150-165
Abstract
Obesity has dramatically increased during the last decades and is currently one of the most serious global health problems. We present a hypothesis that obesity is a neuro-behavioral disease having a strong genetic background mediated largely by eating behavior and is sensitive to the macro-environment; we study this hypothesis from the perspective of genetic research. Genetic family and genome-wide-association studies have shown well that body mass index (BMI, kg/m2) is a highly heritable and polygenic trait. New genetic variation of BMI emerges after early childhood. Candidate genes of BMI notably express in brain tissue, supporting that this new variation is related to behavior. Obesogenic environments at both childhood family and societal levels reinforce the genetic susceptibility to obesity. Genetic factors have a clear influence on macro-nutrient intake and appetite-related eating behavior traits. Results on the gene-by-diet interactions in obesity are mixed, but emerging evidence suggests that eating behavior traits partly mediate the effect of genes on BMI. However, more rigorous prospective study designs controlling for measurement bias are still needed.
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The role of epigenetics in the development of obesity.
Obri, A, Serra, D, Herrero, L, Mera, P
Biochemical pharmacology. 2020;:113973
Abstract
The epidemic of obesity has become pandemic, putting a significant burden on the world's healthcare system. While the heritability of the disease is high, all the identified genetic variants associated to obesity account for a very small percentage of phenotypic variation. The origins of the obesity pandemic cannot be explained exclusively due to genetic factors. In recent years, epigenetic studies have offered valuable information for a deeper understanding of the steep increase in global obesity rates. Existing evidence indicate that environmental exposures induce alterations to the epigenome, leading to the transmission of obesity risk across generations. In this review, we provide insight into the epigenetic disturbances associated with obesity and discuss the impact of harmful diets, particularly calorie-dense foods, in the epigenetic regulation of obesity. The epigenetics of obesity is an expanding area of research, and current reports suggest potential in the use of epigenetic mechanisms as clinical biomarkers and therapeutic candidates.
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The Role of Eating Behaviours in Genetic Susceptibility to Obesity.
Herle, M, Smith, AD, Kininmonth, A, Llewellyn, C
Current obesity reports. 2020;(4):512-521
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Abstract
PURPOSE OF REVIEW Eating behaviours are hypothesised to be the behavioural expression of genetic risk of obesity. In this review, we summarise findings from behavioural genetic research on the association between genetic risk for obesity and validated psychometrics measures of eating behaviours in children and adults (published in the past 10 years). RECENT FINDINGS Twin studies have produced some evidence for a shared genetic aetiology underlying body mass index and eating behaviours. Studies using measured genetic susceptibility to obesity have suggested that increased genetic liability for obesity is associated with variation in obesogenic eating behaviours such as emotional and uncontrolled eating. More research on this topic is needed. Especially longitudinal studies using genetically sensitive designs to investigate the direction of genetic pathways between genetic liability of eating behaviours to weight and vice versa, as well as the potential subsequent link to eating disorders.
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DNA methylation and incident cardiovascular disease.
Westerman, KE, Ordovás, JM
Current opinion in clinical nutrition and metabolic care. 2020;(4):236-240
Abstract
PURPOSE OF REVIEW DNA methylation is an epigenetic mark that reflects both genetic and environmental influences over the life course and has the potential to be a robust biomarker for cardiovascular disease (CVD) risk. However, standard association studies linking DNA methylation and CVD are susceptible to reverse causation and may not directly translate into useful biomarkers of future disease. Studies of incident CVD represent a crucial tool for improving this evidence base. RECENT FINDINGS Recent investigations have started to provide links between DNA methylation and incident CVD. Epigenome-wide association studies have suggested individual genetic loci in which differential methylation exists prior to disease onset, while multivariate predictive modeling approaches have made progress towards realizing the potential for DNA methylation as a predictive biomarker of CVD risk. Meanwhile, complementary analysis strategies such as Mendelian randomization have provided clues as to the causality of these epigenomic associations. SUMMARY Taken together, this wave of studies provides the basis for a better understanding of CVD pathophysiology and the development of more confident biomarkers of CVD risk.
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The Role of Haptoglobin Polymorphism in Cardiovascular Disease in the Setting of Diabetes.
Somer, S, Levy, AP
International journal of molecular sciences. 2020;(1)
Abstract
Atherosclerotic cardiovascular disease (CVD) is the major cause of morbidity and mortality in individuals with diabetes mellitus (DM). Preclinical models have suggested that excessive oxidative stress and hyperglycemia are directly responsible for this pathological association. However, numerous clinical trials involving the administration of high doses of the antioxidant vitamin E or attempts at strict glycemic control have failed to show a significant reduction of CVD in DM patients. We describe here a possible explanation for the failure of these trials, that being their lack of proper patient selection. The haptoglobin (Hp) genotype is a major determinant of the risk of CVD in the setting of DM. Treatment of individuals with the high-risk Hp genotype with antioxidants or aggressive glycemic control has shown benefit in several small studies. These studies suggest a precision medicine-based approach to preventing diabetes complications. This approach would have a profound effect on the costs of diabetes care and could dramatically reduce morbidity from diabetes.
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Vitamins and Uterine Fibroids: Current Data on Pathophysiology and Possible Clinical Relevance.
Ciebiera, M, Ali, M, Zgliczyńska, M, Skrzypczak, M, Al-Hendy, A
International journal of molecular sciences. 2020;(15)
Abstract
Uterine fibroid (UF) is the most common benign tumor pathology of the female reproductive organs. UFs constitute the main reason for a hysterectomy and hospitalization due to gynecological conditions. UFs consist of uterine smooth muscle immersed in a large amount of extracellular matrix (ECM). Genetic studies have demonstrated that UFs are monoclonal tumors originating from the myometrial stem cells that have underwent specific molecular changes to tumor initiating stem cells which proliferate and differentiate later under the influence of steroid hormones. There is growing interest in the role of micronutrients, for example, vitamins, in UFs. This article is a comprehensive review of publications regarding the available data concerning the role of vitamins in the biology and management of UFs. In summary, the results showed that some vitamins are important in the biology and pathophysiology of UFs. For example, vitamins A and D deserve particular attention following studies of their influence on the treatment of UF tumors. Vitamins B3, C, and E have not been as widely studied as the abovementioned vitamins. However, more research could reveal their potential role in UF biology.