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Polymorphism and renal function

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https://www.readbyqxmd.com/read/28316087/influence-of-abcc2-cyp2c8-and-cyp2j2-polymorphisms-on-tacrolimus-and-mycophenolate-sodium-based-treatment-in-brazilian-kidney-transplant-recipients
#1
Fabiana D V Genvigir, Alvaro M Nishikawa, Claudia R Felipe, Helio Tedesco-Silva, Nagilla Oliveira, Antony B C Salazar, Jose O Medina-Pestana, Sonia Q Doi, Mario H Hirata, Rosario D C Hirata
STUDY OBJECTIVE: To investigate the influence of single nucleotide polymorphisms (SNPs) in genes encoding metabolizing enzymes (CYP2C8, CYP2J2, and UGT2B7) and transporters (ABCC2 and ABCG2) on dose and/or dose-adjusted trough blood concentrations (C/D ratio), clinical outcomes, and occurrence of adverse events of tacrolimus and mycophenolate sodium in Brazilian kidney transplant recipients. DESIGN: Pharmacogenetic analysis of patients enrolled in a previously published study...
March 17, 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/28302371/urinary-metabolites-along-with-common-and-rare-genetic-variations-are-associated-with-incident-chronic-kidney-disease
#2
Gearoid M McMahon, Shih-Jen Hwang, Clary B Clish, Adrienne Tin, Qiong Yang, Martin G Larson, Eugene P Rhee, Man Li, Daniel Levy, Christopher J O'Donnell, Josef Coresh, J Hunter Young, Robert E Gerszten, Caroline S Fox
We assessed the association between urinary metabolites, genetic variants, and incident chronic kidney disease (CKD) in the Framingham Offspring cohort. Among the participants, 193 individuals developed CKD (estimated glomerular filtration rate under 60 ml/min/1.73m(2)) between cohort examinations 6 (1995-1998) and 8 (2005-2008, mean follow-up 9.7 years). They were age- and sex-matched to 193 control individuals free of CKD. A total of 154 urinary metabolites were measured using mass spectrometry, and the association between metabolites and CKD was examined using logistic regression...
March 14, 2017: Kidney International
https://www.readbyqxmd.com/read/28289586/polymorphism-of-angiotensin-converting-enzyme-rs4340-and-diabetic-nephropathy-in-caucasians-with-type-2-diabetes-mellitus
#3
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/28284893/gstm1-genotype-is-an-independent-prognostic-factor-in-clear-cell-renal-cell-carcinoma
#4
Vesna M Coric, Tatjana P Simic, Tatjana D Pekmezovic, Gordana M Basta-Jovanovic, Ana R Savic-Radojevic, Sanja M Radojevic-Skodric, Marija G Matic, Sonja R Suvakov, Dejan P Dragicevic, Tanja M Radic, Zoran M Dzamic, Marija S Pljesa-Ercegovac
PURPOSE: Owing to dual functionality of cytosolic glutathione S-transferases (GSTs), they might affect both the development and the progression of renal cell carcinoma (RCC). However, the data on the prognostic value of GST polymorphism in patients with RCC are scarce. Hence, we evaluated the effect of GST gene variants on both the risk of RCC development and the postoperative prognosis in patients with clear cell RCC (ccRCC). METHODS: GST genotypes were determined in 305 patients with RCC and 326 matched controls, whereas the overall survival was evaluated in patients with ccRCC only...
March 8, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28284562/the-vkorc1-and-cyp2c9-genotypes-significantly-effect-vitamin-k-antagonist-dosing-only-in-patients-over-the-age-of-20years
#5
U Nowak-Göttl, K Dietrich, A Kruempel, C Geisen, L G Mitchell
INTRODUCTION: Given the qualitative differences in the role of VKORC1 and CYP2C9 polymorphisms in Vitamin K antagonists (VKA) dosing variation between adults and children, we were interested in determining at what age these polymorphism begin to play a more significant role. METHODS: A prospective cohort study of 190 patients aged 1-86years receiving VKA for treatment of venous thromboembolism. Blood samples were collected beyond the acute thrombotic event when patients were on stable targeted INR (2-3) for plasma testing and VKORC1/CYP2C9 genotyping...
December 30, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28271468/the-role-of-endoplasmic-reticulum-stress-in-diabetic-nephropathy
#6
REVIEW
Ying Fan, Kyung Lee, Niansong Wang, John Cijiang He
PURPOSE OF REVIEW: Diabetic nephropathy (DN) has become the leading cause of end-stage renal disease (ESRD) worldwide. Accumulating evidence suggests that endoplasmic reticulum (ER) stress plays a major role in the development and progression of DN. Recent findings suggested that many attributes of DN, such as hyperglycemia, proteinuria, and increased advanced glycation end products and free fatty acids, can all trigger unfolded protein response (UPR) in kidney cells. Herein, we review the current knowledge on the role of ER stress in the setting of kidney injury with a specific emphasis on DN...
March 2017: Current Diabetes Reports
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
#7
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/28249922/clinical-manifestation-and-molecular-analysis-of-three-korean-patients-with-the-renal-form-of-pseudohypoaldosteronism-type-1
#8
Hyo-Kyoung Nam, Myung-Hyun Nam, Hye Ryun Kim, Young-Jun Rhie, Kee Hwan Yoo, Kee-Hyoung Lee
Pseudohypoaldosteronism (PHA) type 1 is a rare, heterogeneous disease characterized by hyponatremia and hyperkalemia due to mineralocorticoid resistance. The clinical features of PHA are usually failure to thrive, vomiting, and dehydration in the neonatal period. Heterozygous mutations in the Nuclear receptor subfamily 3, group C, member 2 (NR3C2) gene result in the dominant renal form of PHA type 1. Mutations in the epithelial sodium channel gene result in the more severe, recessive, systemic form of PHA type 1...
January 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28247238/clinical-pharmacokinetic-monitoring-of-leflunomide-in-renal-transplant-recipients-with-bk-virus-reactivation-a-review-of-the-literature
#9
REVIEW
Joan C Y Ng, Marianna Leung, Alissa J Wright, Mary H H Ensom
Leflunomide is an immunosuppressive drug with in vitro and initial observational evidence of antiviral activity against BK virus (BKV), a pathogen that causes opportunistic infection upon reactivation in renal transplant recipients. Leflunomide is considered an ancillary option to immunosuppression reduction in the management of BKV reactivation. Plasma or blood concentrations of teriflunomide, the active metabolite of leflunomide, are commonly monitored because of high leflunomide doses being used, known inter-individual variability in pharmacokinetics, and hepatotoxicity risk...
February 28, 2017: Clinical Pharmacokinetics
https://www.readbyqxmd.com/read/28246355/association-of-a1538g-and-c2437t-single-nucleotide-polymorphisms-in-heat-shock-protein-70-genes-with-diabetic-nephropathy-among-south-indian-population
#10
Umapathy Dhamodharan, Krishnamoorthy Ezhilarasi, Balashanmugam Ponjayanthi, Dornadula Sireesh, Kunka Mohanram Ramkumar, Vijay Viswanathan
Diabetic Nephropathy (DN) is the leading cause of end-stage renal disease, characterized by progressive albuminuria and conferring additional risk of cardiovascular disease and mortality. The crucial role of heat-shock proteins (HSPs) on renal function in patients with DN has been well documented. This study was aimed to understand the association of HSP-70 gene variants on the susceptibility of type 2 diabetes mellitus (T2DM) and DN. A total of 946 subjects (549M; 397F) were recruited and divided into four groups according to the levels of urinary albumin excretion (UAE): those with normoalbuminuria (UAE300 mg/24 hour; n=230)...
February 28, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28245187/influence-of-genetic-polymorphisms-of-cyp3a5-and-abcb1-on-sirolimus-pharmacokinetics-patient-and-graft-survival-and-other-clinical-outcomes-in-renal-transplant
#11
Consuelo Rodríguez-Jiménez, Mar García-Saiz, Lourdes Pérez-Tamajón, Eduardo Salido, Armando Torres
BACKGROUND: In transplant patients receiving de novo anticalcineurin-free sirolimus (SRL)-based immunosuppression, we determined the influence of cytochrome P450 3A5 (CYP3A5) and ATP-binding cassette, sub-family B (MDR/TAP), member (ABCB1) genotypes on SRL blood levels and medium-term relevant clinical outcomes, in order to improve effectiveness of immunosuppression strategies when anti-mammalian target of rapamycin (anti-mTOR) inhibitor is indicated for clinical reasons. METHODS: Forty-eight renal transplant recipients (suffered 48% diabetes mellitus, 91% hypertension, and 47% dyslipidemia) were genotyped for CYP3A5 (6986A>G) and ABCB1 (3435C>T) polymorphisms by polymerase chain reaction-restriction fragment length polymorphism...
March 1, 2017: Drug Metabolism and Personalized Therapy
https://www.readbyqxmd.com/read/28244807/nfatc1-genotypes-affect-acute-rejection-and-long-term-graft-function-in-cyclosporine-treated-renal-transplant-recipients
#12
Qinxia Xu, Xiaoyan Qiu, Zheng Jiao, Ming Zhang, Jianping Chen, Mingkang Zhong
AIM: To investigate the effects of SNPs in the cyclophilin A/calcineurin/nuclear factor of activated T-cells (NFATs) pathway genes (PPIA, PPP3CB, PPP3R1, NFATC1 and NFATC2) on cyclosporine (CsA) efficacy in renal transplant recipients. MATERIALS & METHODS: Seventy-six tag SNPs were detected in 155 CsA-treated renal recipients with at least a 5-year follow-up. The associations of SNPs with acute rejection, nephrotoxicity, pneumonia and estimated glomerular filtration rate post transplant were explored...
March 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28219128/-correlation-between-polymorphism-of-angiotensin-converting-enzyme-gene-and-the-lower-extremity-atherosclerosis-in-type-2-diabetes-mellitus-patients
#13
Y Wang, T H Zhu, J W Tong, J F Wei, J X Sheng, X P Jin, L H Mu, X Chen
Objective: To explore the correlation between polymorphism of the angiotensin-converting enzyme (ACE) gene and lower extremity atherosclerosis (LEA) in type 2 diabetes mellitus (T2DM) patients. Methods: A total of 380 patients diagnosed with T2DM in Department of Endocrinology from June 2015 to March 2016 were enrolled and divided into two groups: group A had no LEA (n=120) and group B had LEA(n=260). Color doppler ultrasound was used to detect the vascular lesions of the patients. For all patients in groups A and B, the polymerase chain reaction (PCR) was applied to determined the insertion/deletion polymorphism in intron 16 of the ACE gene of the patients...
February 14, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28196047/a-time-dependent-model-describes-methotrexate-elimination-and-supports-dynamic-modification-of-mrp2-abcc2-activity
#14
Jean-Baptiste Woillard, Jean Debord, Isabelle Benz-de-Bretagne, Franck Saint-Marcoux, Pascal Turlure, Stéphane Girault, Julie Abraham, Sylvain Choquet, Pierre Marquet, Chantal Barin-Le Guellec
BACKGROUND: Multidrug resistance protein-2 encoded by the ABCC2 gene (MRP2/ABCC2), an efflux transporter expressed at the proximal renal tubule, is rate-limiting for urine excretion of coproporphyrin (UCP) isomers I and III, translating in high UCP [I/(I + III)] ratio in MRP2-deficient patients presenting with the Dubin-Johnson Syndrome. MRP2 is also a major contributor to methotrexate (MTX) clearance. As MTX is both a substrate and an inhibitor of MRP2, time course of the concentrations of MTX in blood could induce functional modification of MRP2 over time, which in turn can modify its own elimination rate...
April 2017: Therapeutic Drug Monitoring
https://www.readbyqxmd.com/read/28117391/functional-ptgs2-polymorphism-based-models-as-novel-predictive-markers-in-metastatic-renal-cell-carcinoma-patients-receiving-first-line-sunitinib
#15
Arancha Cebrián, Teresa Gómez Del Pulgar, María José Méndez-Vidal, María Luisa Gonzálvez, Nuria Lainez, Daniel Castellano, Iciar García-Carbonero, Emilio Esteban, Maria Isabel Sáez, Rosa Villatoro, Cristina Suárez, Alfredo Carrato, Javier Munárriz-Ferrándiz, Laura Basterrechea, Mirta García-Alonso, José Luis González-Larriba, Begoña Perez-Valderrama, Josefina Cruz-Jurado, Aránzazu González Del Alba, Fernando Moreno, Gaspar Reynés, María Rodríguez-Remírez, Valentina Boni, Ignacio Mahillo-Fernández, Yolanda Martin, Andrea Viqueira, Jesús García-Foncillas
Sunitinib is the currently standard treatment for metastatic renal cell carcinoma (mRCC). Multiple candidate predictive biomarkers for sunitinib response have been evaluated but none of them has been implemented in the clinic yet. The aim of this study was to analyze single nucleotide polymorphisms (SNPs) in genes linked to mode of action of sunitinib and immune response as biomarkers for mRCC. This is a multicenter, prospective and observational study involving 20 hospitals. Seventy-five mRCC patients treated with sunitinib as first line were used to assess the impact of 63 SNPs in 31 candidate genes on clinical outcome...
January 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28111348/xenobiotic-transporters-and-kidney-injury
#16
REVIEW
Blessy George, Dahea You, Melanie S Joy, Lauren M Aleksunes
Renal proximal tubules are targets for toxicity due in part to the expression of transporters that mediate the secretion and reabsorption of xenobiotics. Alterations in transporter expression and/or function can enhance the accumulation of toxicants and sensitize the kidneys to injury. This can be observed when xenobiotic uptake by carrier proteins is increased or efflux of toxicants and their metabolites is reduced. Nephrotoxic chemicals include environmental contaminants (halogenated hydrocarbon solvents, the herbicide paraquat, the fungal toxin ochratoxin, and heavy metals) as well as pharmaceuticals (certain beta-lactam antibiotics, antiviral drugs, and chemotherapeutic drugs)...
January 20, 2017: Advanced Drug Delivery Reviews
https://www.readbyqxmd.com/read/28097805/complement-polymorphisms-in-kidney-transplantation-critical-in-graft-rejection
#17
REVIEW
L A Michielsen, A D van Zuilen, I S Muskens, M C Verhaar, H G Otten
The complement system, as part of the innate immune system, plays an important role in renal transplantation. Complement is involved in the protection against foreign organisms and clearance of apoptotic cells but can also cause injury to the renal allograft, for instance, via antibody binding or in ischemia-reperfusion injury. Numerous polymorphisms in complement factors have been identified thus far; some of them result in different functionalities or alter complement levels. In this review, we provide an overview of the literature on the role of complement polymorphisms in renal transplantation...
January 17, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28087255/unknown-face-of-known-drugs-what-else-can-we-expect-from-angiotensin-converting-enzyme-inhibitors
#18
REVIEW
Anna Wzgarda, Robert Kleszcz, Monika Prokop, Katarzyna Regulska, Milosz Regulski, Jaroslaw Paluszczak, Beata J Stanisz
The renin-angiotensin system (RAS) is one of important systems among homeostatic mechanisms that control the function of cardiovascular, renal and adrenal systems. As RAS has a very complex nature, it has been also found as related to the control of cell migration and apoptosis. Angiotensin-converting enzyme inhibitors (ACEI) are drugs most commonly used in the modulation of RAS activity. ACEI have been extensively described as effective in the treatment of hypertension among adults, but also as drugs delaying progression in diabetic nephropathy and reducing mortality in left ventricular dysfunction and congestive heart failure...
February 15, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28065763/the-kidd-jk-blood-group-system
#19
REVIEW
Shaun Lawicki, Randal B Covin, Amy A Powers
The Kidd blood group system was discovered in 1951 and is composed of 2 antithetical antigens, Jk(a) and Jk(b), along with a third high-incidence antigen, Jk3. The Jk3 antigen is expressed in all individuals except those with the rare Kidd-null phenotype. Four Kidd phenotypes are therefore possible: Jk(a+b-), Jk(a-b+), Jk(a+b+), and Jk(a-b-). The glycoprotein carrying the Kidd antigens is a 43-kDa, 389-amino acid protein with 10 membrane-spanning domains which functions as a urea transporter on endothelial cells of the renal vasa recta as well as erythrocytes...
November 9, 2016: Transfusion Medicine Reviews
https://www.readbyqxmd.com/read/28059470/levels-of-heavy-metals-and-their-binding-protein-metallothionein-in-type-2-diabetics-with-kidney-disease
#20
Martina Raudenska, Veronika Dvorakova, Lukas Pacal, Katarina Chalasova, Monika Kratochvilova, Jaromir Gumulec, Branislav Ruttkay-Nedecky, Ondrej Zitka, Katerina Kankova, Vojtech Adam, Michal Masarik
Hyperglycemia, a major metabolic disturbance present in diabetes, promotes oxidative stress. Activation of antioxidant defense is an important mechanism to prevent cell damage. Levels of heavy metals and their binding proteins can contribute to oxidative stress. Antiradical capacity and levels of metallothionein (MT), metals (zinc and copper), and selected antioxidants (bilirubin, cysteine, and glutathione) were determined in 70 type 2 diabetes mellitus (T2DM) subjects and 80 healthy subjects of Caucasian origin...
January 6, 2017: Journal of Biochemical and Molecular Toxicology
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