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https://www.readbyqxmd.com/read/29066732/associations-between-genetic-risk-variants-for-kidney-diseases-and-kidney-disease-etiology
#1
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/29052568/genetic-testing-of-the-mucin-1-gene-variable-number-tandem-repeat-single-cytosine-insertion-mutation-in-a-chinese-family-with-medullary-cystic-kidney-disease
#2
Nuo Si, Ke Zheng, Jie Ma, Xiao-Lu Meng, Xue-Mei Li, Xue Zhang
BACKGROUND: Medullary cystic kidney disease (MCKD) is clinically indistinguishable from several other autosomal-dominant renal diseases; thus, molecular genetic testing is needed to establish a definitive diagnosis. A specific type of single cytosine insertion in the variable number tandem repeat (VNTR) of the mucin 1 (MUC1) gene is the only known cause of MCKD1; however, genetic analysis of this mutation is difficult and not yet offered routinely. To identify the causative mutation/s and establish a definitive diagnosis in a Chinese family with chronic kidney disease, clinical assessments and genetic analysis were performed, including using a modified genotyping method to identify the MUC1- VNTR single cytosine insertion...
October 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28992252/uromodulin-slpa-binding-dictates-lactobacillus-acidophilus-uptake-by-intestinal-epithelial-m-cells
#3
Sae Yanagihara, Takashi Kanaya, Shinji Fukuda, Gaku Nakato, Misaho Hanazato, Xue-Ru Wu, Naoyuki Yamamoto, Hiroshi Ohno
Bacterial access to the gut immune system is a crucial process to promote host immune responses. The probiotic L-92 strain of Lactobacillus acidophilus exerts anti-allergic immunomodulatory effects upon oral administration in mice. Here we show that M cells are responsible for L-92 internalization for evoking L-92-mediated immune responses. L-92 specifically bound to uromodulin, a glycosylphosphatidylinositol-anchored protein expressed exclusively on M cells among intestinal epithelial cells. Internalization of L-92 into M cells was significantly reduced in uromodulin-deficient (Umod-/-) mice compared to Umod+/+ mice...
July 22, 2017: International Immunology
https://www.readbyqxmd.com/read/28990932/uromodulin-p-cys147trp-mutation-drives-kidney-disease-by-activating-er-stress-and-apoptosis
#4
Bryce G Johnson, Lan T Dang, Graham Marsh, Allie M Roach, Zebulon G Levine, Anthony Monti, Deepak Reyon, Lionel Feigenbaum, Jeremy S Duffield
Uromodulin-associated kidney disease (UAKD) is caused by mutations in the uromodulin (UMOD) gene that result in a misfolded form of UMOD protein, which is normally secreted by nephrons. In UAKD patients, mutant UMOD is poorly secreted and accumulates in the ER of distal kidney epithelium, but its role in disease progression is largely unknown. Here, we modeled UMOD accumulation in mice by expressing the murine equivalent of the human UMOD p.Cys148Trp point mutation (UmodC147W/+ mice). Like affected humans, these UmodC147W/+ mice developed spontaneous and progressive kidney disease with organ failure over 24 weeks...
October 9, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28954491/analysis-of-the-association-between-rs12917707-and-rs11864909-single-nucleotide-polymorphisms-in-the-region-of-the-uromoduline-gene-and-chronic-kidney-disease-a-family-based-study
#5
Joanna Żywiec, Katarzyna Kiliś-Pstrusińska, Maciej Tomaszewski, Władysław Grzeszczak
Chronic kidney disease (CKD) is an important challange for healthcare systems wordwide because of its high prevalence and serious late complications. The results of recent studies suggest an association between CKD development and genetic variation within the uromodulin gene (UMOD). The aim of this study was to investigate associations between two common single nucleotide polymorphisms - rs12917707 and rs11864909, located in the region of UMOD and chronic renal disease. The study group consisted of 109 patients with chronic kidney disease, caused by chronic renal glomerulonephritis or chronic tubulointerstitial nephritis, and 109 pairs of their biological parents...
September 21, 2017: Annals of Agricultural and Environmental Medicine: AAEM
https://www.readbyqxmd.com/read/28894234/elevated-umod-methylation-level-in-peripheral-blood-is-associated-with-gout-risk
#6
Yong Yang, Xiaoying Chen, Haochang Hu, Yuting Jiang, Hang Yu, Jie Dai, Yiyi Mao, Shiwei Duan
Uromodulin (UMOD) encodes an uromodulin glycoprotein, and its mutation results in uromodulin glycoprotein dysfunction and the occurrence of gout. The aim of our study was to assess whether UMOD methylation could predict the risk of gout. A total of 89 sporadic gout cases and 103 age and gender-matched healthy controls were recruited in this study. UMOD methylation level was determined by quantitative methylation-specific PCR (qMSP) in peripheral blood, and the percentage of methylated reference (PMR) was described to represent the methylation level...
September 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28858977/the-value-of-uromodulin-as-a-new-serum-marker-to-predict-decline-in-renal-function
#7
Andreas Leiherer, Axel Muendlein, Christoph H Saely, Eva M Brandtner, Kathrin Geiger, Peter Fraunberger, Heinz Drexel
BACKGROUND: Uromodulin is the most abundant protein in urine. Low uromodulin has been found associated with diabetes as well as with chronic kidney disease (CKD). Whether it also predicts a future decline in kidney function is not known. METHODS: We evaluated the association between serum uromodulin and kidney function in 529 patients and performed a genome-wide association study. Clinical parameters including renal function were determined at baseline and reassessed at a 4-year follow-up visit...
August 30, 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/28802947/canine-diabetes-mellitus-risk-factors-a-matched-case-control-study
#8
Alan Gomes Pöppl, Guilherme Luiz Carvalho de Carvalho, Itatiele Farias Vivian, Luis Gustavo Corbellini, Félix Hilário Díaz González
Different subtypes of canine diabetes mellitus (CDM) have been described based on their aetiopathogenesis. Therefore, manifold risk factors may be involved in CDM development. This study aims to investigate canine diabetes mellitus risk factors. Owners of 110 diabetic dogs and 136 healthy controls matched by breed, sex, and age were interviewed concerning aspects related to diet, weight, physical activity, oral health, reproductive history, pancreatitis, and exposure to exogenous glucocorticoids. Two multivariate multivariable statistical models were created: The UMod included males and females without variables related to oestrous cycle, while the FMod included only females with all analysed variables...
August 4, 2017: Research in Veterinary Science
https://www.readbyqxmd.com/read/28781372/uromodulin-from-physiology-to-rare-and-complex-kidney-disorders
#9
REVIEW
Olivier Devuyst, Eric Olinger, Luca Rampoldi
Uromodulin (also known as Tamm-Horsfall protein) is exclusively produced in the kidney and is the most abundant protein in normal urine. The function of uromodulin remains elusive, but the available data suggest that this protein might regulate salt transport, protect against urinary tract infection and kidney stones, and have roles in kidney injury and innate immunity. Interest in uromodulin was boosted by genetic studies that reported involvement of the UMOD gene, which encodes uromodulin, in a spectrum of rare and common kidney diseases...
September 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28753889/the-association-of-uromodulin-genotype-with-renal-cancer-aggressiveness
#10
Francesco Trevisani, Alessandro Larcher, Alessandra Cinque, Umberto Capitanio, Francesco Ripa, Riccardo Vago, Arianna Bettiga, Fabio Benigni, Cristina Carenzi, Fabio Muttin, Roberto Bertini, Alberto Briganti, Andrea Salonia, Luca Rampoldi, Francesco Montorsi
The aim of the study was to investigate the association of the uromodulin (UMOD) genotype with patient health status and with renal cell carcinoma (RCC) aggressiveness. The UMOD genotype at the top single nucleotide variant rs4293393 was determined in a cohort of 211 patients diagnosed with a renal mass and treated with surgery. Clinical data were prospectively collected. Due to the higher frequency of allele T relative to the lower frequency of allele C, recessive homozygous (CC), and heterozygous (TC) patients were grouped together and compared with homozygous (TT) patients...
May 12, 2017: European Urology Focus
https://www.readbyqxmd.com/read/28648202/a-review-on-autosomal-dominant-tubulointerstitial-kidney-disease
#11
Nadia Ayasreh Fierro, Rosa Miquel Rodríguez, Ana Matamala Gastón, Elisabet Ars Criach, Roser Torra Balcells
In recent years there has been a reclassification of hereditary tubulointerstitial renal diseases. The old concepts of nephronoptisis or medullary cystic disease have been reordered based on the discovery of new genes. The 2015 KDIGO guidelines proposed a unification of terminology, diagnostic criteria and monitoring. So far 4genes causing autosomal dominant tubulointerstitial kidney disease have been described: MUC1, UMOD, HNF1B and REN. Although the mutation in each of them causes distinctive features in how they present, all have in common the progressive tubulointerstitial damage and renal fibrosis...
May 2017: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/28609449/development-of-next-generation-sequencing-panel-for-umod-and-association-with-kidney-disease
#12
Caitlin Bailie, Jill Kilner, Alexander P Maxwell, Amy Jayne McKnight
Chronic kidney disease (CKD) has a prevalence of approximately 10% in adult populations. CKD can progress to end-stage renal disease (ESRD) and this is usually fatal unless some form of renal replacement therapy (chronic dialysis or renal transplantation) is provided. There is an inherited predisposition to CKD with several genetic risk markers now identified. The UMOD gene has been associated with CKD of varying aetiologies. An AmpliSeq next generation sequencing panel was developed to facilitate comprehensive sequencing of the UMOD gene, covering exonic and regulatory regions...
2017: PloS One
https://www.readbyqxmd.com/read/28605509/a-novel-homozygous-umod-mutation-reveals-gene-dosage-effects-on-uromodulin-processing-and-urinary-excretion
#13
Noel Edwards, Eric Olinger, Jennifer Adam, Michael Kelly, Guglielmo Schiano, Simon A Ramsbottom, Richard Sandford, Olivier Devuyst, John A Sayer
Heterozygous mutations in UMOD encoding the urinary protein uromodulin are the most common genetic cause of autosomal dominant tubulointerstitial kidney disease (ADTKD). We describe the exceptional case of a patient from a consanguineous family carrying a novel homozygous UMOD mutation (p.C120Y) affecting a conserved cysteine residue within the EGF-like domain III of uromodulin. Comparison of heterozygote and homozygote mutation carriers revealed a gene dosage effect with unprecedented low levels of uromodulin and aberrant uromodulin fragments in the urine of the homozygote proband...
June 10, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28598953/uromodulin-associates-with-cardiorenal-function-in-patients-with-hypertension-and-cardiovascular-disease
#14
Engi A H Algharably, Juliane Bolbrinker, Susanne Lezius, Rona Reibis, Karl Wegscheider, Heinz Völler, Reinhold Kreutz
OBJECTIVE: Common genetic variants in the gene encoding uromodulin (UMOD) have been associated with renal function, blood pressure (BP) and hypertension. We investigated the associations between an important single nucleotide polymorphism (SNP) in UMOD, that is rs12917707-G>T, and estimated glomerular filtration rate (eGFR), BP and cardiac organ damage as determined by echocardiography in patients with arterial hypertension. METHODS: A cohort of 1218 treated high-risk patients (mean age 58...
June 8, 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/28437467/mutant-uromodulin-expression-leads-to-altered-homeostasis-of-the-endoplasmic-reticulum-and-activates-the-unfolded-protein-response
#15
Céline Schaeffer, Stefania Merella, Elena Pasqualetto, Dejan Lazarevic, Luca Rampoldi
Uromodulin is the most abundant urinary protein in physiological conditions. It is exclusively produced by renal epithelial cells lining the thick ascending limb of Henle's loop (TAL) and it plays key roles in kidney function and disease. Mutations in UMOD, the gene encoding uromodulin, cause autosomal dominant tubulointerstitial kidney disease uromodulin-related (ADTKD-UMOD), characterised by hyperuricemia, gout and progressive loss of renal function. While the primary effect of UMOD mutations, retention in the endoplasmic reticulum (ER), is well established, its downstream effects are still largely unknown...
2017: PloS One
https://www.readbyqxmd.com/read/28418009/effect-of-umod-genotype-on-long-term-graft-survival-after-kidney-transplantation-in-patients-treated-with-cyclosporine-based-therapy
#16
E Abdel-Hady Algharably, J Beige, R Kreutz, J Bolbrinker
The genetic rs12917707-G>T variant in uromodulin (UMOD) has been associated with renal function, chronic kidney disease and hypertension with the minor T-allele showing a protective effect. Hypertension and nephrotoxicity are adverse effects of chronic cyclosporine treatment. We tested whether UMOD rs12917707-T in donor kidneys associates with long-term graft survival in 393 Caucasian patients with stable graft function for more than 10 weeks after kidney transplantation treated with a cyclosporine-based maintenance therapy (mean graft survival 9 years)...
April 18, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28387813/whole-exome-sequencing-for-prenatal-diagnosis-of-fetuses-with-congenital-anomalies-of-the-kidney-and-urinary-tract
#17
Ting-Ying Lei, Fang Fu, Ru Li, Dan Wang, Rong-Yue Wang, Xiang-Yi Jing, Qiong Deng, Zhou-Zhou Li, Ze-Qun Liu, Xin Yang, Dong-Zhi Li, Can Liao
Background: In the absence of cytogenetic abnormality, fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) with/without other structural anomalies show a higher likelihood of monogenic causes; however, defining the underlying pathology can be challenging. Here, we investigate the value of whole-exome sequencing (WES) in fetuses with CAKUT but normal findings upon karyotyping and chromosome microarray analysis. Methods: WES was performed on DNA from the cord blood of 30 fetuses with unexplained CAKUT with/without other structural anomalies...
October 1, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28325753/a-mouse-model-for-inherited-renal-fibrosis-associated-with-endoplasmic-reticulum-stress
#18
Sian E Piret, Eric Olinger, Anita A C Reed, M Andrew Nesbit, Tertius A Hough, Liz Bentley, Olivier Devuyst, Roger D Cox, Rajesh V Thakker
Renal fibrosis is a common feature of renal failure resulting from multiple etiologies, including diabetic nephropathy, hypertension and inherited renal disorders. However, the mechanisms of renal fibrosis are incompletely understood and we therefore explored these by establishing a mouse model for a renal tubular disorder, referred to as autosomal dominant tubulointerstitial kidney disease (ADTKD) due to missense uromodulin (UMOD) mutations (ADTKD-UMOD). ADTKD-UMOD, which is associated with retention of mutant uromodulin in the endoplasmic reticulum (ER) of renal thick ascending limb cells, is characterized by hyperuricemia, interstitial fibrosis, inflammation and renal failure, and we used targeted homologous recombination to generate a knock-in mouse model with an ADTKD-causing missense cysteine to arginine uromodulin mutation (C125R)...
June 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28284384/autosomal-dominant-tubulointerstitial-kidney-disease
#19
REVIEW
Anthony J Bleyer, Kendrah Kidd, Martina Živná, Stanislav Kmoch
There are 3 major forms of autosomal dominant tubulointerstitial kidney disease (ADTKD): ADTKD due to UMOD mutations, MUC1 mutations, and mutations in the REN gene encoding renin. Lack of knowledge about these conditions contributes to frequent nondiagnosis, but with even limited knowledge, nephrologists can easily obtain a diagnosis and improve patient care. There are 3 cardinal features of these disorders: (1) the conditions are inherited in an autosomal dominant manner and should be considered whenever both a parent and child suffer from kidney disease; the presence of even more affected family members provides further support...
March 2017: Advances in Chronic Kidney Disease
https://www.readbyqxmd.com/read/28242751/serum-uromodulin-and-mortality-risk-in-patients-undergoing-coronary-angiography
#20
Graciela E Delgado, Marcus E Kleber, Hubert Scharnagl, Bernhard K Krämer, Winfried März, Jürgen E Scherberich
The mucoprotein uromodulin is the most abundant protein in mammalian urine and has important roles in ion transport, maintenance of water and electrolyte balance, and clearance of bacteria from the urinary tract. Low urinary uromodulin concentrations have been associated with increased mortality risk. However, measuring uromodulin in urine has several preanalytic drawbacks, and sensitive assays for the detection of uromodulin in blood have become available. In this study, we investigated the association of serum uromodulin concentration with cardiovascular biomarkers and mortality risk in a large cohort of patients referred for coronary angiography...
July 2017: Journal of the American Society of Nephrology: JASN
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