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diabetic nephropathy genetic

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https://www.readbyqxmd.com/read/28339911/a-null-variant-in-the-apolipoprotein-l3-gene-is-associated-with-non-diabetic-nephropathy
#1
Karl L Skorecki, Jessica H Lee, Carl D Langefeld, Saharon Rosset, Shay Tzur, Walter G Wasser, Revital Shemer, Gregory A Hawkins, Jasmin Divers, Rulan S Parekh, Man Li, Matthew G Sampson, Matthias Kretzler, Martin R Pollak, Shrijal Shah, Daniel Blackler, Brendan Nichols, Michael Wilmot, Seth L Alper, Barry I Freedman, David J Friedman
Background.: Inheritance of apolipoprotein L1 gene ( APOL1 ) renal-risk variants in a recessive pattern strongly associates with non-diabetic end-stage kidney disease (ESKD). Further evidence supports risk modifiers in APOL1 -associated nephropathy; some studies demonstrate that heterozygotes possess excess risk for ESKD or show earlier age at ESKD, relative to those with zero risk alleles. Nearby loci are also associated with ESKD in non-African Americans. Methods.: We assessed the role of the APOL3 null allele rs11089781 on risk of non-diabetic ESKD...
February 20, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28326331/effects-of-apolipoprotein-e-isoforms-in-diabetic-nephropathy-of-chinese-type-2-diabetic-patients
#2
YongWei Jiang, Liang Ma, ChengWu Han, Qian Liu, Xiao Cong, YaPing Xu, TingTing Zhao, Ping Li, YongTong Cao
Diabetic nephropathy (DN) is one of the major chronic complications of diabetes. Genetic polymorphism of Apolipoprotein E (ApoE) has been proposed to participating in DN. The purpose of the study was to evaluate the relationship between ApoE genetic polymorphism and the presence of DN in Chinese type 2 diabetic patients. We studied 845 diabetic patients who were divided into DN group (n = 429) and control group (n = 416). ApoE genotype was determined by ApoE genotyping chip and the plasmatic biochemical characterization was performed on all subjects...
2017: Journal of Diabetes Research
https://www.readbyqxmd.com/read/28322508/the-influence-of-ampk-subunit-alpha-2-prkaa2-genetic-polymorphisms-with-susceptibility-with-type-2-diabetes-mellitus-and-diabetic-nephropathy-in-chinese-population
#3
Qingchu Li, Cuilin Li, Haoyun Li, Liu Zeng, Zhiqiang Kang, Yu Mao, Xinyue Tang, Panpan Zheng, Li He, Fang Luo, Zhi Li
BACKGROUND: It has been well recognized that the AMP-activated protein kinase (AMPK) is a key factor influencing the development of type 2 diabetes mellitus (T2DM). The single-nucleotide polymorphism (SNP) rs2746342 in AMPK α2 subunit gene (PRKAA2) has been found to be associated with the susceptibility to T2DM in the Chinese Han population recently. This study further investigates the association of PRKAA2 genotypes with the susceptibility to T2DM and its complication disease, diabetic nephropathy...
March 21, 2017: Journal of Diabetes
https://www.readbyqxmd.com/read/28289586/polymorphism-of-angiotensin-converting-enzyme-rs4340-and-diabetic-nephropathy-in-caucasians-with-type-2-diabetes-mellitus
#4
M Šeruga, J Makuc, M Završnik, I Cilenšek, R Ekart, D Petrovič
Diabetic nephropathy (DN) is the leading cause of endstage renal disease (ESRD) in developed countries. Several environmental and genetic factors predict the development and progression of DN. The renin-angiotensin system was demonstrated to be involved in the development of DN. We evaluated the association between rs4340 of the angiotensin-converting enzyme (ACE) gene and DN in Caucasians with type 2 diabetes mellitus (T2DM) in 276 Slovenian patients with T2DM who had DN, and 375 patients without clinical signs of DN...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28271690/genetic-variation-in-the-renin-angiotensin-system-and-diabetic-nephropathy-in-the-tunisian-population
#5
Amira Moussa, Sonia Triki, Haithem Hamdouni, Ons Fekih, Marwa Ajmi, Ibtihel B hajMbarek, Afifa Koubaa, Fadoua Neffati, Asma Omezzine, Med-Fadhel Najjar, Ali Bouslama
BACKGROUND: The aim of this study was to evaluate the association of ACE, angiotensinogen (AGT) and angiotensin II receptor type I (AGTR1) polymorphisms with diabetic nephropathy (DN) in Tunisians. METHODS: The study population comprised 236 type 2 diabetic patients: with nephropathy (DN = 47) and without nephropathy (DM = 189). Genotyping of ACE-I/D-rs1799752, ACE-rs4343G>A, AGT-rs5050A>C, AGT-rs 4762C>T, AGT-rs699A>G, and AGTR1-rs5186A>C was performed by PCR-RFLP...
March 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28255976/association-of-rs-3807337-polymorphism-of-cald1-gene-with-diabetic-nephropathy-occurrence-in-type-1-diabetes-preliminary-results-of-a-family-based-study
#6
Mirosław Śnit, Katarzyna Nabrdalik, Michał Długaszek, Janusz Gumprecht, Wanda Trautsolt, Sylwia Górczyńska-Kosiorz, Władysław Grzeszczak
INTRODUCTION: The worldwide growing burden of diabetes and end-stage renal disease due to diabetic nephropathy has become the reason for research looking for a single marker of chronic kidney disease development and progression that can be found in the early stages of the disease, when preventive action delaying the destructive process could be performed. The aim of the study was to investigate the influence of rs3807337 polymorphism of the caldesmon 1 (CALD1) gene located on the long arm of chromosome 7 encoding for protein that is connected with physiological kidney function on development of diabetic nephropathy...
2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/28254450/diabetic-phenotype-of-transgenic-pigs-introduced-by-dominant-negative-mutant-hepatocyte-nuclear-factor-1%C3%AE
#7
Kazuhiro Umeyama, Masami Nakajima, Takashi Yokoo, Masaki Nagaya, Hiroshi Nagashima
AIM: The present study aimed to identify the characteristics of genetically modified pigs carrying a mutant human gene as a research model for diabetes and its complications. METHODS: We developed a transgenic cloned pig (founder, male) carrying a mutant gene, i.e., human HNF-1α (P291fsinsC), which is responsible for maturity-onset diabetes of the young type 3. Transgenic progeny obtained via the artificial insemination of wild type (WT) sows with the cryopreserved sperm derived from the founder pig was pathologically examined...
February 13, 2017: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/28240316/p53-induces-mir199a-3p-to-suppress-socs7-for-stat3-activation-and-renal-fibrosis-in-uuo
#8
Ruhao Yang, Xuan Xu, Huiling Li, Jinwen Chen, Xudong Xiang, Zheng Dong, Dongshan Zhang
The role of p53 in renal fibrosis has recently been suggested, however, its function remains controversial and the underlying mechanism is unclear. Here, we show that pharmacological and genetic blockade of p53 attenuated renal interstitial fibrosis, apoptosis, and inflammation in mice with unilateral urethral obstruction (UUO). Interestingly, p53 blockade was associated with the suppression of miR-215-5p, miR-199a-5p&3p, and STAT3. In cultured human kidney tubular epithelial cells (HK-2), TGF-β1 treatment induced fibrotic changes, including collagen I and vimentin expression, being associated with p53 accumulation, p53 Ser15 phosphorylation, and miR-199a-3p expression...
February 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28100499/gremlin1-plays-a-key-role-in-kidney-development-and-renal-fibrosis
#9
Rachel H Church, Imran Ali, Mitchel Tate, Deborah Lavin, Arjun Krishnakumar, Helena M Kok, Roel Goldschmeding, Finian Martin, Derek Brazil
Grem1, an antagonist of bone morphogenetic proteins, plays a key role in embryogenesis. A highly specific temporospatial gradient of Grem1 and BMP signalling is critical to normal lung, kidney and limb development. Grem1 levels are increased in renal fibrotic conditions including acute kidney injury, diabetic nephropathy, chronic allograft nephropathy and immune glomerulonephritis. A small number of grem1-/- whole body knockout mice on a mixed genetic background (8 %) are viable, with a single, enlarged left kidney and grossly normal histology...
January 18, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28060188/prox1-gene-cc-genotype-as-a-major-determinant-of-early-onset-of-type-2-diabetes-in-slavic-study-participants-from-action-in-diabetes-and-vascular-disease-preterax-and-diamicron-mr-controlled-evaluation-study
#10
Pavel Hamet, Mounsif Haloui, François Harvey, François-Christophe Marois-Blanchet, Marie-Pierre Sylvestre, Muhammad-Ramzan Tahir, Paul H G Simon, Beatriz Sonja Kanzki, John Raelson, Carole Long, John Chalmers, Mark Woodward, Michel Marre, Stephen Harrap, Johanne Tremblay
BACKGROUND: The prevalence of diabetic nephropathy varies according to ethnicity. Environmental as well as genetic factors contribute to the heterogeneity in the presentation of diabetic nephropathy. Our objective was to evaluate this heterogeneity within the Caucasian population. METHODS: The geo-ethnic origin of the 3409 genotyped Caucasian type 2 diabetes (T2D) patients of Action in Diabetes and Vascular Disease: Preterax and Diamicron MR Controlled Evaluation was determined using principal component analysis...
January 5, 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/27941433/kidney-fibrosis-origins-and-interventions
#11
Thomas Vanhove, Roel Goldschmeding, Dirk Kuypers
All causes of renal allograft injury, when severe and/or sustained, can result in chronic histological damage of which interstitial fibrosis and tubular atrophy are dominant features. Unless a specific disease process can be identified, what drives interstitial fibrosis and tubular atrophy progression in individual patients is often unclear. In general, clinicopathological factors known to predict and drive allograft fibrosis include graft quality, inflammation (whether "nonspecific" or related to a specific diagnosis), infections, such as polyomavirus-associated nephropathy, calcineurin inhibitors (CNI), and genetic factors...
April 2017: Transplantation
https://www.readbyqxmd.com/read/27926811/p22phox-c242t-gene-polymorphism-and-overt-diabetic-nephropathy-a-meta-analysis-of-1-452-participants
#12
Yan-Yan Li, Ge Gong, Hong-Yu Geng, Yun Qian
Background/Aims: The p22phox C242T gene polymorphism (rs4673) may be linked to an increased susceptibility for overt diabetic nephropathy (ODN), but the study results are still inconclusive. Methods: To explore the relationship between p22phox C242T gene polymorphism and ODN, the current meta-analysis of 707 ODN patients and 745 controls from five individual studies was conducted. The pooled odds ratio (OR) and its corresponding 95% confidence interval (CI) were evaluated by either a random or fixed effect model...
December 8, 2016: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/27914709/podocyte-specific-chemokine-c-c-motif-receptor-2%C3%A2-overexpression-mediates-diabetic-renal-injury-in%C3%A2-mice
#13
Hanning You, Ting Gao, Wesley M Raup-Konsavage, Timothy K Cooper, Sarah K Bronson, W Brian Reeves, Alaa S Awad
Inflammation is a central pathophysiologic mechanism that contributes to diabetes mellitus and diabetic nephropathy. Recently, we showed that macrophages directly contribute to diabetic renal injury and that pharmacological blockade or genetic deficiency of chemokine (C-C motif) receptor 2 (CCR2) confers kidney protection in diabetic nephropathy. However, the direct role of CCR2 in kidney-derived cells such as podocytes in diabetic nephropathy remains unclear. To study this, we developed a transgenic mouse model expressing CCR2 specifically in podocytes (Tg[NPHS2-Ccr2]) on a nephropathy-prone (DBA/2J) and CCR2-deficient (Ccr2(-/-)) background with heterozygous Ccr2(+/-) littermate controls...
March 2017: Kidney International
https://www.readbyqxmd.com/read/27881924/rodent-models-of-diabetic-nephropathy-their-utility-and-limitations
#14
REVIEW
Munehiro Kitada, Yoshio Ogura, Daisuke Koya
Diabetic nephropathy is the most common cause of end-stage renal disease. Therefore, novel therapies for the suppression of diabetic nephropathy must be developed. Rodent models are useful for elucidating the pathogenesis of diseases and testing novel therapies, and many type 1 and type 2 diabetic rodent models have been established for the study of diabetes and diabetic complications. Streptozotocin (STZ)-induced diabetic animals are widely used as a model of type 1 diabetes. Akita diabetic mice that have an Ins2+/C96Y mutation and OVE26 mice that overexpress calmodulin in pancreatic β-cells serve as a genetic model of type 1 diabetes...
2016: International Journal of Nephrology and Renovascular Disease
https://www.readbyqxmd.com/read/27833523/role-of-cytogenetic-biomarkers-in-management-of-chronic-kidney-disease-patients-a-review
#15
REVIEW
Zeba Khan, Manoj Pandey, Ravindra M Samartha
Chronic kidney disease (CKD) is much more common than people recognize, and habitually goes undetected and undiagnosed until the disease is well advanced or when their kidney functions is down to 25% of normal function. Genetic and non-genetic factors contribute to cause CKD. Non-genetic factors include hypertension, High level of DNA damage due to the production of reactive oxygen species and nucleic acid oxidation has been reported in CKD patients. Main genetic factor which causes CKD is diabetic nephropathy...
October 2016: International Journal of Health Sciences
https://www.readbyqxmd.com/read/27830089/proteasome-activators-pa28%C3%AE-and-pa28%C3%AE-govern-development-of-microvascular-injury-in-diabetic-nephropathy-and-retinopathy
#16
Saeed Yadranji Aghdam, Ali Mahmoudpour
Diabetic nephropathy (DN) and diabetic retinopathy (DR) are major complications of type 1 and type 2 diabetes. DN and DR are mainly caused by injury to the perivascular supporting cells, the mesangial cells within the glomerulus, and the pericytes in the retina. The genes and molecular mechanisms predisposing retinal and glomerular pericytes to diabetic injury are poorly characterized. In this study, the genetic deletion of proteasome activator genes, PA28α and PA28β genes, protected the diabetic mice in the experimental STZ-induced diabetes model against renal injury and retinal microvascular injury and prolonged their survival compared with wild type STZ diabetic mice...
2016: International Journal of Nephrology
https://www.readbyqxmd.com/read/27774826/mesenchymal-stem-cells-a-future-experimental-exploration-for-recession-of-diabetic-nephropathy
#17
Amal H Hamza, Widad M Al-Bishri, Laila A Damiati, Hanaa H Ahmed
BACKGROUND: The progresses made in stem cell therapy offer an innovative approach and exhibit great potential for the repair of damaged organs and tissues. This study was conducted with a view to find the mechanisms responsible for the effectiveness of bone marrow-derived mesenchymal stem cells (BM-MSCs) in the suppression of diabetes and experimentally-induced diabetic nephropathy. METHODS: To realize this objective, diabetic and diabetic nephropathy subject groups that underwent MSC treatment were studied through numerous biochemistry and molecular genetics analyses...
November 2017: Renal Failure
https://www.readbyqxmd.com/read/27754025/yia-03-01-validation-of-genetic-determinants-of-unmet-needs-in-the-treatment-of-kidney-disease-in-type-2-diabetes
#18
Paul Simon, Aelna Krajčoviechová, Francois Harvey, Mousnif Haloui, Francois-Christophe Marois-Blanchet, John Chalmers, Mark Woodward, Michel Marre, Johanne Tremblay, Pavel Hamet
OBJECTIVE: We have previously reported the genetic determinants of unmet renal needs in Type 2 Diabetic (T2D) patients of the ADVANCE study (Abstract 0105-PD, IDF - World Diabetes Congress, Vancouver, 2015). We report here the external validation of several of these loci. An improved knowledge of the genetics linked to worsening diabetic nephropathy will offer insights on how to better manage this complication of diabetes and hypertension in T2D patients. DESIGN AND METHOD: We investigated 3,500 T2D patients of Caucasian origin included in the ADVANCE trial who were all treated with current standard therapies...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27721376/diabetic-nephropathy-the-genetic-architecture-of-dkd-in-t1dm
#19
Ellen F Carney
No abstract text is available yet for this article.
December 2016: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/27706190/influence-of-different-levels-of-lipoic-acid-synthase-gene-expression-on-diabetic-nephropathy
#20
Longquan Xu, Sylvia Hiller, Stephen Simington, Volker Nickeleit, Nobuyo Maeda, Leighton R James, Xianwen Yi
Oxidative stress is implicated in the pathogenesis of diabetic nephropathy (DN) but outcomes of many clinical trials are controversial. To define the role of antioxidants in kidney protection during the development of diabetic nephropathy, we have generated a novel genetic antioxidant mouse model with over- or under-expression of lipoic acid synthase gene (Lias). These models have been mated with Ins2Akita/+ mice, a type I diabetic mouse model. We compare the major pathologic changes and oxidative stress status in two new strains of the mice with controls...
2016: PloS One
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