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diabetic nephropathy genetic

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https://www.readbyqxmd.com/read/28401169/epigenetic-regulations-in-diabetic-nephropathy
#1
REVIEW
Zeyuan Lu, Na Liu, Feng Wang
Diabetic nephropathy (DN) is a chronic complication of diabetes and the most common cause of end-stage kidney disease. It has been reported that multiple factors are involved in the pathogenesis of DN, while the molecular mechanisms that lead to DN are still not fully understood. Numerous risk factors for the development of diabetic nephropathy have been proposed, including ethnicity and inherited genetic differences. Recently, with the development of high-throughput technologies, there is emerging evidence that suggests the important role of epigenetic mechanisms in the pathogenesis of DN...
2017: Journal of Diabetes Research
https://www.readbyqxmd.com/read/28390948/relationship-of-angiotensin-i-converting-enzyme-ace-and-bradykinin-b2-receptor-bdkrb2-polymorphism-with-diabetic-nephropathy
#2
Honghong Zou, Guoqing Wu, Jinlei Lv, Gaosi Xu
PURPOSE: To determine whether ACE(2) I/D and BDKRB2(3) +9/-9 polymorphism causatively affect diabetic nephropathy progression. RESULTS: STZ-induced metabolic disorder, as well as inflammatory responses, was significantly aggravated in ACE II-B2R(4)+9bp, ACE DD-B2R+9bp, or ACE DD-B2R-9bp diabetic mice but not ACE II-B2R-9bp, indicating the genetic susceptibility of ACE DD or B2R+9bp to diabetic nephropathy. Furthermore, ACE II-B2R+9bp, ACE DD-B2R+9bp, or ACE DD-B2R-9bp rather than ACE II-B2R-9bp, worsened renal performance and enhanced pathological alterations induced by STZ...
April 5, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28386567/mechanistic-insight-and-management-of-diabetic-nephropathy-recent-progress-and-future-perspective
#3
REVIEW
Rui Xue, Dingkun Gui, Liyang Zheng, Ruonan Zhai, Feng Wang, Niansong Wang
Diabetic nephropathy (DN) is the most serious microvascular complication of diabetes and the largest single cause of end-stage renal disease (ESRD) in many developed countries. DN is also associated with an increased cardiovascular mortality. It occurs as a result of interaction between both genetic and environmental factors. Hyperglycemia, hypertension, and genetic predisposition are the major risk factors. However, the exact mechanisms of DN are unclear. Despite the benefits derived from strict control of glucose and blood pressure, as well as inhibition of renin-angiotensin-aldosterone system, many patients continue to enter into ESRD...
2017: Journal of Diabetes Research
https://www.readbyqxmd.com/read/28352334/long-non-coding-rna-asncmtrna-2-is-upregulated-in-diabetic-kidneys-and-high-glucose-treated-mesangial-cells
#4
Yan Gao, Zhao-Yu Chen, Yan Wang, Yan Liu, Jian-Xia Ma, Yu-Kun Li
Diabetic nephropathy (DN) is one of the most frequent complications associated with type I and II diabetes mellitus. Kidneys from patients with DN are characterized by mesangial matrix expansion and increased thickness of the glomerular basement membrane, which are induced by reactive oxygen species (ROS) production. Previous studies have been conducted to investigate this; however, the detailed mechanism of DN progression remains to be elucidated. The present study evaluated the expression of antisense mitochondrial non-coding RNA-2 (ASncmtRNA-2) in an experimental DN model and cultured human mesangial cells...
February 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28352022/analysis-of-renal-diseases-detected-in-renal-biopsies-of-adult-patients-a-single-center-experience
#5
Salman Imtiaz, Murtaza F Drohlia, Kiran Nasir, Beena Salman, Aasim Ahmad
Renal biopsy is crucial while evaluating for the diagnosis of glomerular, vascular, tubulointerstitial, and genetic diseases. It gives vital information which helps in estimating the disease prognosis, progression, and management. This is the retrospective analysis of all adult patients aged above 18 years, who underwent percutaneous renal biopsy at The Kidney Center Post Graduate Training Institute, Karachi, over a duration of 18 years, i.e., January 1, 1996, to December 2013. Renal graft biopsies and those which were inadequate were excluded from analysis...
March 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28352015/association-between-angiotensin-converting-enzyme-insertion-deletion-gene-polymorphism-and-end-stage-renal-disease-in-lebanese-patients-with-diabetic-nephropathy
#6
Sarah Fawwaz, Mahmoud Balbaa, Hana Fakhoury, Jamila Borjac, Rajaa Fakhoury
Diabetic nephropathy (DN) is one of the leading causes of end-stage renal disease (ESRD). The development and progression of nephropathy is strongly determined by genetic factors, and few genes have been shown to contribute to DN. An insertion/deletion (I/D) polymorphism of the gene encoding angiotensin-converting enzyme (ACE) was reported as a candidate gene predisposing to DN and ESRD. Accordingly, we investigated the frequency of ACE I/D polymorphism in 50 patients with DN, of whom 33 had ESRD and compared them with 64 patients with type 2 diabetes mellitus (T2DM) but with normal renal function...
March 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28344754/role-of-angiotensin-converting-enzyme-and-angiotensinogen-gene-polymorphisms-in-angiotensin-converting-enzyme-inhibitor-mediated-antiproteinuric-action-in-type-2-diabetic-nephropathy-patients
#7
Neerja Aggarwal, Pawan Kumar Kare, Parul Varshney, Om Prakash Kalra, Sri Venkata Madhu, Basu Dev Banerjee, Anil Yadav, Alpana Raizada, Ashok Kumar Tripathi
AIM: To investigate the role of genetic variants of angiotensin converting enzyme (ACE) and angiotensinogen (AGT) genes in the antiproteinuric efficacy of ACE inhibitor therapy in diabetic nephropathy (DN) patients. METHODS: In the present study, 270 type 2 diabetes mellitus patients with nephropathy were enrolled and treated with ACE inhibitor (ramipril) and followed at 6 mo for renal function and albumin excretion by estimating serum creatinine, end stage renal disease, and albumin/creatinine ratio (ACR) in urine...
March 15, 2017: World Journal of Diabetes
https://www.readbyqxmd.com/read/28339911/a-null-variant-in-the-apolipoprotein-l3-gene-is-associated-with-non-diabetic-nephropathy
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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...
May 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
#15
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
#16
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
#17
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...
May 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/27941433/kidney-fibrosis-origins-and-interventions
#18
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
#19
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
#20
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
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