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https://www.readbyqxmd.com/read/29242368/lessons-from-ckd-related-genetic-association-studies-moving-forward
#1
Sophie Limou, Nicolas Vince, Afshin Parsa
Over the past decade, genetic association studies have uncovered numerous determinants of kidney function in the general, diabetic, hypertensive, CKD, ESRD, and GN-based study populations (e.g., IgA nephropathy, membranous nephropathy, FSGS). These studies have led to numerous novel and unanticipated findings, which are helping improve our understanding of factors and pathways affecting both normal and pathologic kidney function. In this review, we report on major discoveries and advances resulting from this rapidly progressing research domain...
December 14, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29211853/nrf2-deficiency-upregulates-intrarenal-angiotensin-converting-enzyme-2-and-angiotensin-1-7-receptor-expression-and-attenuates-hypertension-and-nephropathy-in-diabetic-mice
#2
Shuiling Zhao, Anindya Ghosh, Chao-Sheng Lo, Isabelle Chenier, James W Scholey, Janos G Filep, Julie R Ingelfinger, Shao-Ling Zhang, John S D Chan
We investigated the role of nuclear factor erythroid 2-related factor 2 (Nrf2) in renin-angiotensin system (RAS) gene expression in renal proximal tubule cells (RPTCs) and in the development of systemic hypertension and kidney injury in diabetic Akita mice. We used adult male Akita Nrf2 knockout (KO) mice and Akita mice treated with trigonelline (an Nrf2 inhibitor) or oltipraz (an Nrf2 activator). We also examined immortalized rat RPTCs (IRPTCs) stably transfected with control plasmids or plasmids containing rat angiotensinogen (Agt), angiotensin-converting enzyme (ACE), angiotensin-converting enzyme-2 (Ace2) or angiotensin 1-7 receptor (MasR) gene promoters...
December 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/29207384/slc2a1-tag-snps-in-greek-patients-with-diabetic-retinopathy-and-nephropathy
#3
Vasileios Siokas, Anatoli Fotiadou, Efthimios Dardiotis, Maria G Kotoula, Sophia V Tachmitzi, Dimitrios Z Chatzoulis, Elias Zintzaras, Ioannis Stefanidis, Evangelia E Tsironi
Backround: Genetic variants are implicated in the development of diabetic retinopathy (DR) and nephropathy (DN). The role of solute carrier family 2-facilitated glucose transporter member 1 (SLC2A1), also known as glucose transporter (GLUT1), on DR and DN remain controversial. OBJECTIVE: Examination of the influence of tag SLC2A1 single-nucleotide polymorphisms (SNPs) on the development of DR and DN during the course of type 2 diabetes mellitus (T2DM). METHODS: A total of 169 patients with DR or DN, 107 uncomplicated T2DM patients, and 315 controls were recruited and genotyped for 14 SLC2A1 tag SNPs...
December 6, 2017: Ophthalmic Research
https://www.readbyqxmd.com/read/29205998/diabetic-nephropathy-in-type-1-diabetes
#4
Nektaria Papadopoulou-Marketou, Stavroula A Paschou, Nikolaos Marketos, Sofia Adamidi, Sotiris Adamidis, Christina Kanaka-Gantenbein
Diabetic nephropathy (DN) also named diabetic kidney disease (DN) is one of the leading causes of mortality in people with diabetes. The aim of this review is to update the medical literature, the theories behind its early natural history, the pathways of its pathogenesis, its diagnosis and treatment. Poor glycemic control, hyperlipidemia, smoking, oxidative stress, accumulation of advanced glycated end products, environmental, genetic and epigenetic factors play an important role in the pathophysiological development of DN...
December 4, 2017: Minerva Medica
https://www.readbyqxmd.com/read/29196930/association-of-alox12-gene-polymorphism-with-all-cause-and-cardiovascular-mortality-in-diabetic-nephropathy
#5
Athanasios K Roumeliotis, Stefanos K Roumeliotis, Stylianos A Panagoutsos, Fotis Tsetsos, Marianthi Georgitsi, Vangelis Manolopoulos, Peristera Paschou, Ploumis S Passadakis
PURPOSE: Cardiovascular (CV) events are the first cause of death in patients with chronic renal disease (CKD) and in patients with type 2 diabetes mellitus (DM2). The combination of CKD and DM2 elevates the risk of both cardiovascular disease (CVD) and death in this high-risk population. Besides traditional risk factors, such as dyslipidemia, smoking, obesity, and carotid atherosclerosis, novel factors are under investigation such as genetic polymorphisms. Lipoxygenases (LOXs) and their genes are of critical importance in oxidative stress, inflammation, and atherosclerosis...
December 1, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/29158465/tonicity-responsive-enhancer-binding-protein-mediates-hyperglycemia-induced-inflammation-and-vascular-and-renal-injury
#6
Soo Youn Choi, Sun Woo Lim, Shabnam Salimi, Eun Jin Yoo, Whaseon Lee-Kwon, Hwan Hee Lee, Jun Ho Lee, Braxton D Mitchell, Satoru Sanada, Afshin Parsa, Hyug Moo Kwon
Diabetic nephropathy (DN) has become the single leading cause of ESRD in developed nations. Bearing in mind the paucity of effective treatment for DN and progressive CKD, novel targets for treatment are sorely needed. We previously reported that increased activity of tonicity-responsive enhancer-binding protein (TonEBP) in monocytes was associated with early DN in humans. We now extend these findings by testing the hypotheses that TonEBP in macrophages promotes hyperglycemia-mediated proinflammatory activation and chronic renal inflammation leading to DN and CKD, and TonEBP genetic variability in humans is associated with inflammatory, renal, and vascular function-related phenotypes...
November 20, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29154870/the-fto-variant-is-associated-with-chronic-complications-of-diabetes-mellitus-in-czech-population
#7
Jaroslav A Hubacek, Dana Dlouha, Marta Klementova, Vera Lanska, Tomas Neskudla, Terezie Pelikanova
BACKGROUND: Genome-wide association studies have resulted in the identification of the FTO gene as an important genetic determinant of diabetes mellitus. The aim of this study was to confirm the role of this gene in the development of DM in the Czech-Slavonic population and to analyse whether this gene is associated with common DM complications. METHODS: Two groups of patients (814 with T1DM and 848 with T2DM) and a group of healthy controls (2339 individuals) - both of Czech origin - were genotyped for the FTO rs17817449 SNP...
November 14, 2017: Gene
https://www.readbyqxmd.com/read/29128937/epigenetics-in-diabetic-nephropathy-immunity-and-metabolism
#8
REVIEW
Samuel T Keating, Janna A van Diepen, Niels P Riksen, Assam El-Osta
When it comes to the epigenome, there is a fine line between clarity and confusion-walk that line and you will discover another fascinating level of transcription control. With the genetic code representing the cornerstone of rules for information that is encoded to proteins somewhere above the genome level there is a set of rules by which chemical information is also read. These epigenetic modifications show a different side of the genetic code that is diverse and regulated, hence modifying genetic transcription transiently, ranging from short- to long-term alterations...
November 11, 2017: Diabetologia
https://www.readbyqxmd.com/read/29110756/apol1-nephropathy-a-population-genetics-and-evolutionary-medicine-detective-story
#9
REVIEW
Etty Kruzel-Davila, Walter G Wasser, Karl Skorecki
Common DNA sequence variants rarely have a high-risk association with a common disease. When such associations do occur, evolutionary forces must be sought, such as in the association of apolipoprotein L1 (APOL1) gene risk variants with nondiabetic kidney diseases in populations of African ancestry. The variants originated in West Africa and provided pathogenic resistance in the heterozygous state that led to high allele frequencies owing to an adaptive evolutionary selective sweep. However, the homozygous state is disadvantageous and is associated with a markedly increased risk of a spectrum of kidney diseases encompassing hypertension-attributed kidney disease, focal segmental glomerulosclerosis, human immunodeficiency virus nephropathy, sickle cell nephropathy, and progressive lupus nephritis...
November 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/29106632/cost-effectiveness-of-screening-type-2-diabetes-patients-for-chronic-kidney-disease-progression-with-the-ckd273-urinary-peptide-classifier-as-compared-to-urinary-albumin-excretion
#10
Elena Critselis, Antonia Vlahou, Vianda S Stel, Rachael L Morton
Background: In type 2 diabetes mellitus (T2DM) patients, chronic kidney disease (CKD) progression may occur without detectable changes in urinary albumin excretion (UAE) rate. A new urinary peptide classifier (CKD273) has exhibited greater ability to detect CKD progression, however, its cost-effectiveness remains unknown. This study evaluated the cost-effectiveness of screening for CKD progression with the CKD273 classifier, as compared to UAE, in diabetic patients. Methods: A decision-analytic Markov model was developed to estimate costs and health outcomes [including overall survival and quality-adjusted life years (QALYs)] from a health system perspective for adopting a new annual screening strategy based on the CKD273 classifier as compared to annual UAE-based screening in a hypothetical cohort of T2DM patients...
July 3, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/29066732/associations-between-genetic-risk-variants-for-kidney-diseases-and-kidney-disease-etiology
#11
Sebastian Wunnenburger, Ulla T Schultheiss, Gerd Walz, Birgit Hausknecht, Arif B Ekici, Florian Kronenberg, Kai-Uwe Eckardt, Anna Köttgen, Matthias Wuttke
Chronic kidney disease (CKD) is a global health problem with a genetic component. Genome-wide association studies have identified variants associated with specific CKD etiologies, but their genetic overlap has not been well studied. This study examined SNP associations across different CKD etiologies and CKD stages using data from 5,034 CKD patients of the German Chronic Kidney Disease study. In addition to confirming known associations, a systemic lupus erythematosus-associated risk variant at TNXB was also associated with CKD attributed to type 1 diabetes (p = 2...
October 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29062142/modelling-diabetic-nephropathy-in-mice
#12
REVIEW
Kengo Azushima, Susan B Gurley, Thomas M Coffman
Diabetic nephropathy (DN) is a leading cause of end-stage renal disease in the developed world. Accordingly, an urgent need exists for new, curative treatments as well as for biomarkers to stratify risk of DN among individuals with diabetes mellitus. A barrier to progress in these areas has been a lack of animal models that faithfully replicate the main features of human DN. Such models could be used to define the pathogenesis, identify drug targets and test new therapies. Owing to their tractability for genetic manipulation, mice are widely used to model human diseases, including DN...
October 24, 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/29030466/modulation-of-renal-glut2-by-the-cannabinoid-1-receptor-implications-for-the-treatment-of-diabetic-nephropathy
#13
Liad Hinden, Shiran Udi, Adi Drori, Asaad Gammal, Alina Nemirovski, Rivka Hadar, Saja Baraghithy, Anna Permyakova, Matan Geron, Merav Cohen, Sabina Tsytkin-Kirschenzweig, Yael Riahi, Gil Leibowitz, Yaakov Nahmias, Avi Priel, Joseph Tam
Altered glucose reabsorption via the facilitative glucose transporter 2 (GLUT2) during diabetes may lead to renal proximal tubule cell (RPTC) injury, inflammation, and interstitial fibrosis. These pathologies are also triggered by activating the cannabinoid-1 receptor (CB1R), which contributes to the development of diabetic nephropathy (DN). However, the link between CB1R and GLUT2 remains to be determined. Here, we show that chronic peripheral CB1R blockade or genetically inactivating CB1Rs in the RPTCs ameliorated diabetes-induced renal structural and functional changes, kidney inflammation, and tubulointerstitial fibrosis in mice...
October 13, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29027595/carnosinase-diabetes-mellitus-and-the-potential-relevance-of-carnosinase-deficiency
#14
REVIEW
Verena Peters, Johannes Zschocke, Claus P Schmitt
Carnosinase (CN1) is a dipeptidase, encoded by the CNDP1 gene, that degrades histidine-containing dipeptides, such as carnosine, anserine and homocarnosine. Loss of CN1 function (also called carnosinase deficiency or aminoacyl-histidine dipeptidase deficiency) has been reported in a small number of patients with highly elevated blood carnosine concentrations, denoted carnosinaemia; it is unclear whether the variety of clinical symptoms in these individuals is causally related to carnosinase deficiency. Reduced CN1 function should increase serum carnosine concentrations but the genetic basis of carnosinaemia has not been formally confirmed to be due to CNDP1 mutations...
October 13, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28976905/endothelin-1-gene-polymorphisms-rs5370-rs1476046-and-rs3087459-are-not-associated-with-diabetic-nephropathy-in-caucasians-with-type-2-diabetes-mellitus
#15
Maja Šeruga, Stojan Kariž, Jana Makuc, Matej Završnik, Ines Cilenšek, Katarina Gazdikova, Martin Caprnda, Peter Kruzliak, Daniel Petrovič
BACKGROUND: Diabetic nephropathy (DN) is a major microvascular complication of type 2 diabetes mellitus (T2DM). Several lines of evidence implicate the endothelin (ET) system in the pathophysiology of DN. The aim of the present study was to analyze if genetic polymorphisms of the ET-1 (EDN1) gene affect susceptibility to DN in Caucasians with T2DM. MATERIALS AND METHODS: The study population consisted of 651 Caucasian subjects with T2DM of more than 10 years' duration: 276 patients with DN (cases) and 375 patients without evidence of DN (controls)...
September 1, 2017: Folia Medica
https://www.readbyqxmd.com/read/28970584/endoplasmic-reticulum-stress-the-unfolded-protein-response-and-autophagy-in-kidney-diseases
#16
REVIEW
Andrey V Cybulsky
Progress has been made in our understanding of the mechanisms of endoplasmic reticulum (ER) proteostasis, ER stress and the unfolded protein response (UPR), as well as ER stress-induced autophagy, in the kidney. Experimental models have revealed that disruption of the UPR, including a protein that senses misfolded proteins (namely, inositol-requiring enzyme 1α) in mouse podocytes causes podocyte injury and albuminuria as mice age. Protein misfolding and ER stress are evident in various renal diseases, including primary glomerulonephritides, glomerulopathies associated with genetic mutations, diabetic nephropathy, acute kidney injury, chronic kidney disease and renal fibrosis...
November 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28962177/high-mobility-group-box-1-in-diabetic-nephropathy
#17
Haitao Shi, Yingqi Che, Lin Bai, Jinling Zhang, Jingxu Fan, Huiling Mao
Type 2 diabetes (T2D) is a complex disorder caused by the combined effects of genetic inheritance and environmental factors. The abnormal secretion of albumin via urine is the characteristic feature of a diabetic nephropathy (DN) patient. Moreover, the detection of this observable characteristic feature of DN is quite late. As a result the time, at which DN is observable, large extent of kidney damage has already occurred. Thus, this late observation significantly decreases the chances of efficient management of DN and associated outcomes...
September 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28937055/association-between-apolipoprotein-e-polymorphism-and-nephropathy-in-iranian-diabetic-patients
#18
Mostafa Karimoei, Parvin Pasalar, Mohsen Mehrabzadeh, Maryam Daneshpour, Maryam Shojaee, Katayoun Forouzanfar, Farideh Razi
Approximately one-third of diabetic patients develop evidence of nephropathy. Pathogenesis of diabetic nephropathy (DN) remains unclear; however, some genetic and metabolic risk factors have been determined for the development and progression of DN. In the recent genetic studies, polymorphism of apolipoprotein E (ApoE) gene has been reported as a risk factor for the development of DN; however, the results are inconsistent. The aim of the present study was to evaluate the association between ApoE polymorphism and nephropathy in Iranian patient with type 2 diabetes...
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28925940/zebrafish-as-a-model-for-the-study-of-microvascular-complications-of-diabetes-and-their-mechanisms
#19
REVIEW
Karl Heckler, Jens Kroll
Diabetes mellitus (DM) is a crucial metabolic disease that leads to severe disorders. These include macrovascular complications such as myocardial infarction, stroke, and peripheral artery disease and microvascular complications including diabetic nephropathy, neuropathy, and retinopathy. Diabetes mellitus, along with its associated organ pathologies, is one of the key problems in today's medicine. Zebrafish is an upcoming disease model organism in diabetes research. Its glucose metabolism and the pathways of reactive metabolite formation are very similar to those of humans...
September 19, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28890661/association-of-angiotensin-converting-enzyme-gene-polymorphisms-and-nephropathy-in-diabetic-patients-at-a-tertiary-care-centre-in-south-india
#20
Mukta Wyawahare, Revathy Neelamegam, Saranya Vilvanathan, R Soundravally, A K Das, C Adithan
BACKGROUND: Genetic polymorphisms of the angiotensin-renin pathway have been thought to influence the development of diabetic nephropathy. However, there are conflicting results regarding this association in previous studies on populations with varying ethnicity. AIMS: Primary aim was to compare the frequency of distribution of angiotensin-converting enzyme (ACE) gene (insertion/deletion [I/D]) polymorphism in Tamilian Indian type 2 diabetic individuals with and without microalbuminuria...
2017: Clinical Medicine Insights. Endocrinology and Diabetes
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