keyword
MENU ▼
Read by QxMD icon Read
search

Diabetes genetic

keyword
https://www.readbyqxmd.com/read/29913182/the-genetic-architecture-of-type-1-diabetes-mellitus
#1
REVIEW
Denis M Nyaga, Mark H Vickers, Craig Jefferies, Jo K Perry, Justin M O'Sullivan
Type 1 diabetes mellitus (T1D) is a complex autoimmune disorder characterised by loss of the insulin-producing pancreatic beta cells in genetically predisposed individuals, ultimately resulting in insulin deficiency and hyperglycaemia. T1D is most common among children and young adults, and the incidence is on the rise across the world. The aetiology of T1D is hypothesized to involve genetic and environmental factors that result in the T-cell mediated destruction of pancreatic beta cells. There is a strong genetic risk to T1D; with genome-wide association studies (GWAS) identifying over 60 susceptibility regions within the human genome which are marked by single nucleotide polymorphisms (SNPs)...
June 15, 2018: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/29913163/loss-of-function-mutation-of-serine-racemase-attenuates-retinal-ganglion-cell-loss-in-diabetic-mice
#2
Haiyan Jiang, Jinlin Du, Juan Song, Yanqi Li, Mengjuan Wu, Jing Zhou, Shengzhou Wu
Consistent results suggest the promoting roles of serine racemase (SR)/D-serine in retinal neurodegeneration in diabetic retinopathy (DR). However, the direct evidence connecting SR deficiency with retinal neuroprotection in genetic model of diabetes mellitus has not been reported. In this investigation, we explore the effect of absence of functional SR on the degeneration of retinal ganglion cells (RGCs) with a diabetic murine model, Ins2Akita mice. We established a murine strain with double mutation, termed Ins2Akita -Srr, by mating heterozygous Ins2Akita mice with homozygous Srrochre269 mice...
June 15, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29912608/liver-specific-knockout-of-histone-methyltransferase-g9a-impairs-liver-maturation-and-dysregulates-inflammatory-cytoprotective-and-drug-processing-genes
#3
Hong Lu, Xiaohong Lei, Qinghao Zhang
1. Methyltransferase G9a is essential for a key gene silencing mark, histone H3 dimethylation at lysine-9 (H3K9me2). Hepatic G9a expression is down-regulated by xenobiotics and diabetes. However, little is known about the role of G9a in liver. Thus, we generated mice with liver-specific knockout (Liv-KO) of G9a. 2. Adult G9a Liv-KO mice had marked loss of H3K9me2 proteins in liver, without overt liver injury or infiltration of inflammatory cells. However, G9a-null livers had ectopic induction of certain genes normally expressed in neural and immune systems...
June 18, 2018: Xenobiotica; the Fate of Foreign Compounds in Biological Systems
https://www.readbyqxmd.com/read/29912308/metabolic-changes-in-hypertrophic-cardiomyopathies-scientific-update-from-the-working-group-of-myocardial-function-of-the-european-society-of-cardiology
#4
Jolanda van der Velden, Carlo Gabriele Tocchetti, Gilda Varricchi, Anna Bianco, Vasco Sequeira, Denise Hilfiker-Kleiner, Nazha Hamdani, Adelino Leite-Moreira, Manuel Mayr, Ines Falcão-Pires, Thomas Thum, Dana K Dawson, Jean-Luc Balligand, Stephane Heymans
Disturbed metabolism as a consequence of obesity and diabetes may cause cardiac diseases (recently highlighted in the CVR spotlight issue on Metabolic cardiomyopathies).1 In turn, the metabolism of the heart may also be disturbed in genetic and acquired forms of hypertrophic cardiac disease. Here, we provide an overview of recent insights on metabolic changes in genetic hypertrophic cardiomyopathy (HCM) and discuss several therapies which may be explored to target disturbed metabolism and prevent onset of cardiac hypertrophy...
June 15, 2018: Cardiovascular Research
https://www.readbyqxmd.com/read/29912186/generation-of-scaffold-free-three-dimensional-insulin-expressing-pancreatoids-from-mouse-pancreatic-progenitors-in-vitro
#5
Marissa A Scavuzzo, Jessica Teaw, Diane Yang, Malgorzata Borowiak
The pancreas is a complex organ composed of many different cell types that work together to regulate blood glucose homeostasis and digestion. These cell types include enzyme-secreting acinar cells, an arborized ductal system responsible for the transportation of enzymes to the gut, and hormone-producing endocrine cells. Endocrine beta-cells are the sole cell type in the body that produce insulin to lower blood glucose levels. Diabetes, a disease characterized by a loss or the dysfunction of beta-cells, is reaching epidemic proportions...
June 2, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29911757/reduction-in-serum-triglyceride-levels-in-diabetic-patients-may-result-in-decreased-insulin-dependence-and-disease-regression
#6
Nadav Shinhar, Dana Marcoviciu, Dror Dicker
BACKGROUND: Type 2 diabetes mellitus is a multifactorial disease in which genetic susceptibility and environmental factors induce pancreatic β-cell dysfunction and insulin resistance. Additional factors such as hyperglycemia and hyperlipidemia have roles in β-cell dysfunction and disease progression. The phenomenon of lipid-induced pancreatic β-dysfunction, designated as lipotoxicity, has been observed in several in vitro and in vivo experiments; however, there is still no solid evidence for the occurrence of this event in humans...
June 2018: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/29911119/the-association-between-nfkb1-94attg-ins-del-and-nfkb1a-826c-t-genetic-variations-and-coronary-artery-disease-risk
#7
Abbas Seidi, Sina Mirzaahmadi, Khalil Mahmoodi, Mohammad Soleiman-Soltanpour
Coronary artery disease (CAD) is considered as a chronic inflammatory disease initiated from early childhood. Nuclear factor κB (NF κB) and κB1A (NF κB1A) are the key regulators of inflammatory responses. The NFKB1 -94ATTG ins/del and NFKB1A -826C/T polymorphisms may contribute to the development of CAD. The aim of the present study was to investigate the association of these polymorphisms with the risk of CAD. The study population included 120 patients with angiographically confirmed CAD and 100 matched controls...
March 2018: Molecular Biology Research Communications
https://www.readbyqxmd.com/read/29911035/subclinical-hypothyroidism-and-cardiac-risk-lessons-from-a-south-indian-population-study
#8
Sashi Niranjan Nair, Harish Kumar, Manoj Raveendran, V Usha Menon
Introduction: The benefits of treating subclinical hypothyroidism are currently under debate, prevention of adverse cardiac events purporting to be one of the main benefits. The effect of subclinical hypothyroidism on the cardiovascular health of the Indian sub-population is largely unknown. This study was designed to examine these effects and to help guide treatment of this disorder. Methods: A cross-sectional adult population survey was carried out in urban coastal area of central Kerala...
March 2018: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29909200/epigenetic-control-of-variation-and-stochasticity-in-metabolic-disease
#9
REVIEW
Ilaria Panzeri, John Andrew Pospisilik
BACKGROUND: The alarming rise of obesity and its associated comorbidities represents a medical burden and a major global health and economic issue. Understanding etiological mechanisms underpinning susceptibility and therapeutic response is of primary importance. Obesity, diabetes, and metabolic diseases are complex trait disorders with only partial genetic heritability, indicating important roles for environmental programing and epigenetic effects. SCOPE OF THE REVIEW: We will highlight some of the reasons for the scarce predictability of metabolic diseases...
May 18, 2018: Molecular Metabolism
https://www.readbyqxmd.com/read/29908076/diabetes-associated-with-immune-checkpoint-inhibition-presentation-and-management-challenges
#10
A Galligan, W Xu, S Fourlanos, A Nankervis, C Chiang, A M Mant, P Parente, D Rischin, B Krishnamurthy, S Sandhu, P G Colman
BACKGROUND: In recent years, immune checkpoint blockade has become a standard therapy for a wide range of cancers. Adverse events including endocrinopathies result from the induction of autoimmunity. CASE REPORT: We report a case series of nine individuals who presented with immunotherapy-induced type 1 diabetes between 2015-2017. DISCUSSION: Onset of diabetes occurred within 12 weeks of commencing therapy. Anti- GAD antibodies were present in six people...
June 16, 2018: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/29907847/haplotype-analysis-of-endothelial-nitric-oxide-synthase-nos3-genetic-variants-and-metabolic-syndrome-in-healthy-subjects-and-schizophrenia-patients
#11
Nikolai Fattakhov, Liudmila Smirnova, Dmitriy Atochin, Daria Parshukova, Daria Skuratovskaia, Quinn Painter, Pavel Zatolokin, Arkadiy Semke, Larisa Litvinova, Svetlana Ivanova
BACKGROUND/OBJECTIVES: The frequency of metabolic syndrome (MetS) is significantly higher in schizophrenia (SCH) patients, when compared to the general populatiotin. The goal of this study was to evaluate whether genetic variants T-786C (rs2070744), G894T (rs1799983) and C774T (rs1549758) in the endothelial nitric oxide (NOS3) gene and/or their haplotypes could be associated with the risk of MetS in SCH patients or healthy subjects from Russian population. SUBJECTS/METHODS: We performed two case-control comparisons...
June 15, 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29907545/differential-proteome-analysis-of-diabetes-mellitus-type-2-and-its-pathophysiological-complications
#12
REVIEW
Waleed Sohail, Fatimah Majeed, Amber Afroz
The prevalence of Diabetes Mellitus Type 2 (DM 2) is increasing every passing year due to some global changes in lifestyles of people. The exact underlying mechanisms of the progression of this disease are not yet known. However recent advances in the combined omics more particularly in proteomics and genomics have opened a gateway towards the understanding of predetermined genetic factors, progression, complications and treatment of this disease. Here we shall review the recent advances in proteomics that have led to an early and better diagnostic approaches in controlling DM 2 more importantly the comparison of structural and functional protein biomarkers that are modified in the diseased state...
June 11, 2018: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/29907536/methicillin-resistant-staphylococcus-aureus-nasal-carriage-and-infection-among-patients-with-diabetic-foot-ulcer
#13
Shin-Yi Lin, Nai-Yu Lin, Yu-Yao Huang, Chi-Chun Hsieh, Yhu-Chering Huang
PURPOSE: To evaluate the prevalence of methicillin-resistant Staphylococcus aureus (MRSA) nasal carriage in patients with diabetic foot ulcer (DFU) in Taiwan, and to assess the concordance between colonizing and clinical MRSA isolates from the patients. METHOD: A total of 354 nasal specimens were collected from 112 to 242 diabetic patients with and without foot ulcer, respectively. MRSA clinical isolates from DFU wound cultures were collected for comparison. RESULTS: Nasal carriage rate of S...
June 4, 2018: Journal of Microbiology, Immunology, and Infection, Wei Mian Yu Gan Ran za Zhi
https://www.readbyqxmd.com/read/29904633/physiology-of-hyperuricemia-and-urate-lowering-treatments
#14
REVIEW
Caroline L Benn, Pinky Dua, Rachel Gurrell, Peter Loudon, Andrew Pike, R Ian Storer, Ciara Vangjeli
Gout is the most common form of inflammatory arthritis and is a multifactorial disease typically characterized by hyperuricemia and monosodium urate crystal deposition predominantly in, but not limited to, the joints and the urinary tract. The prevalence of gout and hyperuricemia has increased in developed countries over the past two decades and research into the area has become progressively more active. We review the current field of knowledge with emphasis on active areas of hyperuricemia research including the underlying physiology, genetics and epidemiology, with a focus on studies which suggest association of hyperuricemia with common comorbidities including cardiovascular disease, renal insufficiency, metabolic syndrome and diabetes...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29901700/epigenomics-and-metabolomics-reveal-the-mechanism-of-the-apoa2-saturated-fat-intake-interaction-affecting-obesity
#15
Chao-Qiang Lai, Caren E Smith, Laurence D Parnell, Yu-Chi Lee, Dolores Corella, Paul Hopkins, Bertha A Hidalgo, Stella Aslibekyan, Michael A Province, Devin Absher, Donna K Arnett, Katherine L Tucker, Jose M Ordovas
Background: The putative functional variant -265T>C (rs5082) within the APOA2 promoter has shown consistent interactions with saturated fatty acid (SFA) intake to influence the risk of obesity. Objective: The aim of this study was to implement an integrative approach to characterize the molecular basis of this interaction. Design: We conducted an epigenome-wide scan on 80 participants carrying either the rs5082 CC or TT genotypes and consuming either a low-SFA (<22 g/d) or high-SFA diet (≥22 g/d), matched for age, sex, BMI, and diabetes status in the Boston Puerto Rican Health Study (BPRHS)...
June 12, 2018: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29901137/fanconi-anemia-complementation-group-c-protection-against-oxidative-stress%C3%A2-induced-%C3%AE-%C3%A2-cell-apoptosis
#16
Sirikul Kulanuwat, Prapaporn Jungtrakoon, Watip Tangjittipokin, Pa-Thai Yenchitsomanus, Nattachet Plengvidhya
Diabetes mellitus (DM) and other glucose metabolism abnormalities are commonly observed in individuals with Fanconi anemia (FA). FA causes an impaired response to DNA damage due to genetic defects in a cluster of genes encoded proteins involved in DNA repair. However, the mechanism by which FA is associated with DM has not been clearly elucidated. Fanconi anemia complementation group C (FANCC) is a component of FA nuclear clusters. Evidence suggests that cytoplasmic FANCC has a role in protection against oxidative stress‑induced apoptosis...
June 14, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29899647/causes-of-permanent-severe-visual-impairment-and-blindness-among-jordanian-population
#17
Basel Turki Baarah, Raed Ali Shatnawi, Ahmed Essa Khatatbeh
PURPOSE: To report the causes of permanent severe visual impairment and blindness among Jordanian blind people. MATERIALS AND METHODS: This study was conducted on 1422 legally blind or worse vision people of all ages who attended the ophthalmic division of a medical committee for evaluation of disabled persons from July 2013 through November 2014. They were divided into two age groups: adult group (998 cases) and childhood group (<16 years, 424 cases). Patients presented reports from their ophthalmologists detailing their eye examination including best-corrected visual acuity, slit-lamp examinations, and if applicable, intraocular pressure, dilated ophthalmoscopy, and visual field and the primary cause of visual impairment...
January 2018: Middle East African Journal of Ophthalmology
https://www.readbyqxmd.com/read/29899542/prenatal-iron-exposure-and-childhood-type-1-diabetes
#18
Ketil Størdal, Harry J McArdle, Helen Hayes, German Tapia, Marte K Viken, Nicolai A Lund-Blix, Margaretha Haugen, Geir Joner, Torild Skrivarhaug, Karl Mårild, Pål R Njølstad, Merete Eggesbø, Siddhartha Mandal, Christian M Page, Stephanie J London, Benedicte A Lie, Lars C Stene
Iron overload due to environmental or genetic causes have been associated diabetes. We hypothesized that prenatal iron exposure is associated with higher risk of childhood type 1 diabetes. In the Norwegian Mother and Child cohort study (n = 94,209 pregnancies, n = 373 developed type 1 diabetes) the incidence of type 1 diabetes was higher in children exposed to maternal iron supplementation than unexposed (36.8/100,000/year compared to 28.6/100,000/year, adjusted hazard ratio 1.33, 95%CI: 1.06-1.67)...
June 13, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29899519/genetic-inactivation-of-angptl4-improves-glucose-homeostasis-and-is-associated-with-reduced-risk-of-diabetes
#19
Viktoria Gusarova, Colm O'Dushlaine, Tanya M Teslovich, Peter N Benotti, Tooraj Mirshahi, Omri Gottesman, Cristopher V Van Hout, Michael F Murray, Anubha Mahajan, Jonas B Nielsen, Lars Fritsche, Anders Berg Wulff, Daniel F Gudbjartsson, Marketa Sjögren, Connor A Emdin, Robert A Scott, Wen-Jane Lee, Aeron Small, Lydia C Kwee, Om Prakash Dwivedi, Rashmi B Prasad, Shannon Bruse, Alexander E Lopez, John Penn, Anthony Marcketta, Joseph B Leader, Christopher D Still, H Lester Kirchner, Uyenlinh L Mirshahi, Amr H Wardeh, Cassandra M Hartle, Lukas Habegger, Samantha N Fetterolf, Teresa Tusie-Luna, Andrew P Morris, Hilma Holm, Valgerdur Steinthorsdottir, Patrick Sulem, Unnur Thorsteinsdottir, Jerome I Rotter, Lee-Ming Chuang, Scott Damrauer, David Birtwell, Chad M Brummett, Amit V Khera, Pradeep Natarajan, Marju Orho-Melander, Jason Flannick, Luca A Lotta, Cristen J Willer, Oddgeir L Holmen, Marylyn D Ritchie, David H Ledbetter, Andrew J Murphy, Ingrid B Borecki, Jeffrey G Reid, John D Overton, Ola Hansson, Leif Groop, Svati H Shah, William E Kraus, Daniel J Rader, Yii-Der I Chen, Kristian Hveem, Nicholas J Wareham, Sekar Kathiresan, Olle Melander, Kari Stefansson, Børge G Nordestgaard, Anne Tybjærg-Hansen, Goncalo R Abecasis, David Altshuler, Jose C Florez, Michael Boehnke, Mark I McCarthy, George D Yancopoulos, David J Carey, Alan R Shuldiner, Aris Baras, Frederick E Dewey, Jesper Gromada
Angiopoietin-like 4 (ANGPTL4) is an endogenous inhibitor of lipoprotein lipase that modulates lipid levels, coronary atherosclerosis risk, and nutrient partitioning. We hypothesize that loss of ANGPTL4 function might improve glucose homeostasis and decrease risk of type 2 diabetes (T2D). We investigate protein-altering variants in ANGPTL4 among 58,124 participants in the DiscovEHR human genetics study, with follow-up studies in 82,766 T2D cases and 498,761 controls. Carriers of p.E40K, a variant that abolishes ANGPTL4 ability to inhibit lipoprotein lipase, have lower odds of T2D (odds ratio 0...
June 13, 2018: Nature Communications
https://www.readbyqxmd.com/read/29899044/human-genetics-of-obesity-and-type-2-diabetes-mellitus-past-present-and-future
#20
REVIEW
Erik Ingelsson, Mark I McCarthy
Type 2 diabetes mellitus (T2D) and obesity already represent 2 of the most prominent risk factors for cardiovascular disease, and are destined to increase in importance given the global changes in lifestyle. Ten years have passed since the first round of genome-wide association studies for T2D and obesity. During this decade, we have witnessed remarkable developments in human genetics. We have graduated from the despair of candidate gene-based studies that generated few consistently replicated genotype-phenotype associations, to the excitement of an exponential harvest of loci robustly associated with medical outcomes through ever larger genome-wide association study meta-analyses...
June 2018: Circulation. Genomic and precision medicine
keyword
keyword
101923
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"