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https://www.readbyqxmd.com/read/29792847/the-polymorphisms-of-atoh-7-et-1-and-ace-in-non-arteritic-anterior-ischemic-optic-neuropathy
#1
Ting Chen, Jin Ma, Guangliang Shan, Yong Zhong
Non-arteritic anterior ischemic optic neuropathy (NAION) is a common cause of acute optic neuropathy in the elderly. The role of the genetic polymorphisms of Atonal Homolog 7 (ATOH7), Endothelin-1 (ET-1) and Angiotensin Converting Enzyme (ACE) in NAION and the combined effects of the gene-gene and gene-medical comorbidities on NAION were not clear. We conducted a perspective, case-control study. 71 NAION patients and 142 age and sex-matched healthy controls were enrolled. Single nucleotide polymorphisms of ATOH7 (rs1900004), ET-1 (rs5370) and ACE (rs1799752) were identified by polymerase chain reaction (PCR) method and all PCR products were screened with Sanger sequencing...
May 21, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29792231/high-burden-of-birthweight-lowering-genetic-variants-in-africans-and-asians
#2
Fasil Tekola-Ayele, Tsegaselassie Workalemahu, Azmeraw T Amare
BACKGROUND: Birthweight is an important predictor of infant morbidity and mortality, and is associated with cardiovascular diseases, obesity, and diabetes in childhood and adulthood. Birthweight and fetal growth show regional and population variations even under similar maternal conditions, and a large proportion of these differences are not explained by environmental factors. Whether and to what extent population genetic variations at key birthweight-associated loci account for the residual birthweight disparities not explained by environmental determinants is unknown...
May 24, 2018: BMC Medicine
https://www.readbyqxmd.com/read/29791472/pioglitazone-abolishes-autistic-like-behaviors-via-the-il-6-pathway
#3
Thiago Berti Kirsten, Renato C Casarin, Maria M Bernardi, Luciano F Felicio
Autism is characterized by social deficits, communication abnormalities, and repetitive behaviors. The risk factors appear to include genetic and environmental conditions, such as prenatal infections and maternal dietary factors. Previous investigations by our group have demonstrated that prenatal exposure to lipopolysaccharide (LPS), which mimics infections by gram-negative bacteria, induces autistic-like behaviors. No effective treatment yet exists for autism. Therefore, we used our rat model to test a possible treatment for autism...
2018: PloS One
https://www.readbyqxmd.com/read/29791184/expert-exchange-workgroup-on-children-aged-5-and-younger-with-severe-obesity-a-narrative-review-of-medical-and-genetic-risk-factors
#4
Nazrat Mirza, Thao-Ly Phan, June Tester, Angela Fals, Cristina Fernandez, George Datto, Elizabeth Estrada, Ihuoma Eneli
Severe obesity defined as an age- and gender-specific body mass index ≥120% of the 95th percentile in children younger than 5 years is well recognized as a significant challenge for prevention and treatment. This article provides an overview of the prevalence, classification of obesity severity, patterns of weight gain trajectory, medical and genetic risk factors, and comorbid disorders among young children with an emphasis on severe obesity. Studies suggest rapid weight gain trajectory in infancy, maternal smoking, maternal gestational diabetes, and genetic conditions are associated with an increased risk for severe obesity in early childhood...
May 23, 2018: Childhood Obesity
https://www.readbyqxmd.com/read/29791171/-diagnosis-of-mody-brief-overview-for-clinical-practice
#5
Jana Urbanová, Ludmila Brunerová, Jan Brož
Maturity Onset Diabetes of the Young (MODY) comprises inherited forms of diabetes mellitus caused by the mutations in the genes involved in the development, differentiation and function of beta-cells. The majority of patients with MODY remains misdiagnosed and erroneously classified as type 1 or type 2 diabetic patients. Correct MODY diagnosis is, however, essential since it enables individualization of treatment, assessment of the prognosis and identification of diabetes among patient´s relatives. Clinical presentation of MODY is highly variable and it could resemble other types of diabetes, thus identification of MODY patients might be difficult...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29791073/elevated-histone-h3-acetylation-is-associated-with-genes-involving-in-t-lymphocyte-activation-and-gada-production-in-patients-with-type-1-diabetes
#6
Yanfei Wang, Can Hou, Jonathan Wisler, Kanhaiya Singh, Chao Wu, Zhiguo Xie, Qianjin Lu, Zhiguang Zhou
AIM: Genetic and epigenetic mechanisms have been implicated in the pathogenesis of type 1 diabetes (T1D), and histone acetylation is an epigenetic modification pattern that activates gene transcription. However, the genome-wide histone H3 acetylation in newly onset T1D patients has been less described. Accordingly, we aimed to unveil the genome-wide promoter acetylation profile in CD4+ T lymphocytes from T1D patients, especially for those with glutamate decarboxylase antibody (GADA) positive...
May 23, 2018: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/29788239/circulating-selenium-and-prostate-cancer-risk-a-mendelian-randomization-analysis
#7
James Yarmolinsky, Carolina Bonilla, Philip C Haycock, Ryan J Q Langdon, Luca A Lotta, Claudia Langenberg, Caroline L Relton, Sarah J Lewis, David M Evans, George Davey Smith, Richard M Martin
In the Selenium and Vitamin E Cancer Prevention Trial (SELECT), selenium supplementation (causing a median 114 μg/L increase in circulating selenium) did not lower overall prostate cancer risk, but increased risk of high-grade prostate cancer and type 2 diabetes. Mendelian randomization analysis uses genetic variants to proxy modifiable risk factors and can strengthen causal inference in observational studies. We constructed a genetic instrument comprising 11 single nucleotide polymorphisms robustly (P < 5 × 10-8) associated with circulating selenium in genome-wide association studies...
May 17, 2018: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29786646/metabolic-reprogramming-by-3-iodothyronamine-t1am-a-new-perspective-to-reverse-obesity-through-co-regulation-of-sirtuin-4-and-6-expression
#8
Fariba M Assadi-Porter, Hannah Reiland, Martina Sabatini, Leonardo Lorenzini, Vittoria Carnicelli, Micheal Rogowski, Ebru S Selen Alpergin, Marco Tonelli, Sandra Ghelardoni, Alessandro Saba, Riccardo Zucchi, Grazia Chiellini
Obesity is a complex disease associated with environmental and genetic factors. 3-Iodothyronamine (T1AM) has revealed great potential as an effective weight loss drug. We used metabolomics and associated transcriptional gene and protein expression analysis to investigate the tissue specific metabolic reprogramming effects of subchronic T1AM treatment at two pharmacological daily doses (10 and 25 mg/kg) on targeted metabolic pathways. Multi-analytical results indicated that T1AM at 25 mg/kg can act as a novel master regulator of both glucose and lipid metabolism in mice through sirtuin-mediated pathways...
May 22, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29785241/an-in-vivo-zebrafish-model-for-interrogating-ros-mediated-pancreatic-%C3%AE-cell-injury-response-and-prevention
#9
Abhishek A Kulkarni, Abass M Conteh, Cody A Sorrell, Anjali Mirmira, Sarah A Tersey, Raghavendra G Mirmira, Amelia K Linnemann, Ryan M Anderson
It is well known that a chronic state of elevated reactive oxygen species (ROS) in pancreatic β -cells impairs their ability to release insulin in response to elevated plasma glucose. Moreover, at its extreme, unmitigated ROS drives regulated cell death. This dysfunctional state of ROS buildup can result both from genetic predisposition and environmental factors such as obesity and overnutrition. Importantly, excessive ROS buildup may underlie metabolic pathologies such as type 2 diabetes mellitus. The ability to monitor ROS dynamics in β -cells in situ and to manipulate it via genetic, pharmacological, and environmental means would accelerate the development of novel therapeutics that could abate this pathology...
2018: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29784651/immune-recognition-of-%C3%AE-cells-neoepitopes-as-key-players-in-the-loss-of-tolerance
#10
Eddie A James, Massimo Pietropaolo, Mark J Mamula
Prior to the onset of type 1 diabetes, there is progressive loss of immune self-tolerance, evidenced by the accumulation of islet autoantibodies and emergence of autoreactive T cells. Continued autoimmune activity leads to the destruction of pancreatic β-cells and loss of insulin secretion. Studies of samples from patients with type 1 diabetes and of murine disease models have generated important insights about genetic and environmental factors that contribute to susceptibility and immune pathways that are important for pathogenesis...
June 2018: Diabetes
https://www.readbyqxmd.com/read/29783250/-signifuing-resident-of-the-city-poltava-at-the-expense-of-signs-stroke-risk-factors-and-urgent-measures-according-to-medico-social-survey
#11
Anzhelina M Kryvchun, Nataliia V Lytvynenko, Viktoriia A Pinchuk, Galyna Ya Sylenko, Viktoriia M Gladka
OBJECTIVE: Introduction: The problem of cerebrovascular diseases and their most severe form - cerebral stroke is one of the most pressing problems in modern medicine due to the high level of lethality, significant disability of patients. The aim: To assess and increase the sign of residents of the city Poltava at the expense of signs of stroke, its risk factors for emergence and emergency measures for stroke. PATIENTS AND METHODS: Materials and methods: During the annual social event dedicated to the World Stroke Day, on October 27, 2017, a survey of 981 people in Poltava city was conducted by volunteer students and staff of the Department of Nervous Diseases with Neurosurgery and Medical Genetics of "Ukrainian Medical Stomatological Academy"...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29783219/-clinical-and-laboratory-features-of-cholelithiasis-in-patients-with-type-2-diabetes-by-gender
#12
Natalya I Dyakiv-Koreiba
OBJECTIVE: Introduction: Today, diabetes is considered a factor that provokes the development of bile duct disease. Cholelithiasis is associated with such risk factors as aging, high body mass index, female sex, genetic predisposition, alcohol abuse, high concentration of triglycerides and cholesterol, low density lipoprotein in blood plasma The aim of the work is to analyze the clinical and laboratory features of the pathology of the gall bladder in patients with type 2 diabetes, depending on the sex...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29782842/paraoxonase-1-pon1-l55m-among-common-variants-in-the-coding-region-of-the-paraoxonase-gene-family-may-contribute-to-the-glycemic-control-in-type-2-diabetes
#13
Abdolkarim Mahrooz, Mohammad Bagher Hashemi-Soteh, Masoud Heydari, Ruzbeh Boorank, Fatemeh Ramazani, Ali Mahmoudi, Anvarsadat Kianmehr, Ahad Alizadeh
OBJECTIVE: Genome studies have shown that the genes encoding paraoxonase 1 (PON1) and PON2 are associated with glucose metabolism. The goal of this study was to simultaneously evaluate the association between functional variants in PON1 and PON2 genes and susceptibility for type 2 diabetes (T2D) and determine whether they can affect glycemic control. METHODS: We performed a case-control study with 145 newly diagnosed patients with T2D and 148 controls. The common variants including PON1-Q192R, PON1-L55M and PON2-S311C were genotyped by PCR-based RFLP...
May 18, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29779583/mouse-models-of-peripheral-metabolic-disease
#14
REVIEW
Gabriela da Silva Xavier, David J Hodson
Metabolic disease risk is driven by defects in the function of cells that regulate energy homeostasis, as well as altered communication between the different tissues or organs that these cells occupy. Thus, it is desirable to use model organisms to understand the contribution of different cells, tissues and organs to metabolism. Mice are widely used for metabolic research, since well-characterised mouse strains (in terms of their genotype and phenotype) allow comparative studies and human disease modelling...
June 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29779155/prioritising-risk-factors-for-type-2-diabetes-causal-inference-through-genetic-approaches
#15
REVIEW
Laura B L Wittemans, Luca A Lotta, Claudia Langenberg
PURPOSE OF THE REVIEW: Causality has been demonstrated for few of the many putative risk factors for type 2 diabetes (T2D) emerging from observational epidemiology. Genetic approaches are increasingly being used to infer causality, and in this review, we discuss how genetic discoveries have shaped our understanding of the causal role of factors associated with T2D. RECENT FINDINGS: Genetic discoveries have led to the identification of novel potential aetiological factors of T2D, including the protective role of peripheral fat storage capacity and specific metabolic pathways, such as the branched-chain amino acid breakdown...
May 19, 2018: Current Diabetes Reports
https://www.readbyqxmd.com/read/29777474/not-quite-type-1-or-type-2-what-now-review-of-monogenic-mitochondrial-and-syndromic-diabetes
#16
REVIEW
Roseanne O Yeung, Fady Hannah-Shmouni, Karen Niederhoffer, Mark A Walker
Diabetes mellitus is a heterogeneous group of conditions defined by resultant chronic hyperglycemia. Given the increasing prevalence of diabetes mellitus and the increasing understanding of genetic etiologies, we present a broad review of rare genetic forms of diabetes that have differing diagnostic and/or treatment implications from type 1 and type 2 diabetes. Advances in understanding the genotype-phenotype associations in these rare forms of diabetes offer clinically available examples of evolving precision medicine where defining the correct genetic etiology can radically alter treatment approaches...
May 18, 2018: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/29777116/genetic-risk-score-of-common-genetic-variants-for-impaired-fasting-glucose-and-newly-diagnosed-type-2-diabetes-influences-oxidative-stress
#17
Minjoo Kim, Minkyung Kim, Limin Huang, Sun Ha Jee, Jong Ho Lee
We tested the hypothesis that the cumulative effects of common genetic variants related to elevated fasting glucose are collectively associated with oxidative stress. Using 25 single nucleotide polymorphisms (SNPs), a weighted genetic risk score (wGRS) was constructed by summing nine risk alleles based on nominal significance and a consistent effect direction in 1,395 controls and 718 patients with impaired fasting glucose (IFG) or newly diagnosed type 2 diabetes. All the participants were divided into the following three groups: low-wGRS, middle-wGRS, and high-wGRS groups...
May 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29776318/ppard-rs7770619-polymorphism-in-a-korean-population-association-with-plasma-malondialdehyde-and-impaired-fasting-glucose-or-newly-diagnosed-type-2-diabetes
#18
Minjoo Kim, Minkyung Kim, Hye Jin Yoo, Yao Sun, Sang-Hyun Lee, Jong Ho Lee
Both the peroxisome proliferator-activated receptor delta gene ( PPARD) and malondialdehyde plasma concentrations may play a role in impaired glucose metabolism. The aim of this work was to determine whether PPARD is a candidate gene for impaired fasting glucose or type 2 diabetes and whether a particular genetic variant shows association with plasma malondialdehyde levels. Among the 10 single-nucleotide polymorphisms that were most strongly associated with malondialdehyde, the rs7770619 polymorphism in PPARD was analysed in 1798 subjects with normal fasting glucose, impaired fasting glucose and newly diagnosed type 2 diabetes...
May 1, 2018: Diabetes & Vascular Disease Research
https://www.readbyqxmd.com/read/29775902/type-1-diabetes-through-the-lens-of-human-genome-and-metagenome-interplay
#19
REVIEW
Sepideh Zununi Vahed, Hakimeh Moghaddas Sani, Yalda Rahbar Saadat, Abolfazl Barzegari, Yadollah Omidi
Diabetes is a genetic- and epigenetic-related disease from which a large population worldwide suffers. Some genetic factors along with various mutations related to the immune system for disease mechanism(s) have contrastively been determined. However, sometimes mechanisms have not been fully managed for the clarification of the initiation and/or progression of diseases to help patients. In the recent years, due to familiarity with the role of gut microbiota in the health, it has been found that the changes of the microbial balance in the industrialized societies can cause a battery of modern diseases, for which we have no specific definition of how they emerge...
May 15, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29774890/genetic-and-clinical-aspects-of-wolfram-syndrome-1-a-severe-neurodegenerative-disease
#20
REVIEW
Luciana Rigoli, Placido Bramanti, Chiara Di Bella, Filippo De Luca
Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities. WS1 usually results in death before the age of 50 years. The pathogenesis of WS1 is ascribed to mutations of human WFS1 gene on chromosome 4p encoding a transmembrane protein called wolframin which has physiological functions in membrane trafficking, secretion, processing, and/or regulation of ER calcium homeostasis. Different types of WFS1 mutations have been identified, and some of these have been associated with a dominant, severe type of WS...
May 2018: Pediatric Research
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