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Polymorphism and renal function

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https://www.readbyqxmd.com/read/28914853/-uromodulin-gene-polymorphisms-in-patients-with-cast-nephropathy-in-multiple-myeloma
#1
I G Rekhtina, L P Mendeleeva, B V Biderman, M V Solovyev, A B Sudarikov
AIM: To investigate the nature of mutations in exons 4 and 5 of the uromodulin (UM) gene, including in the area encoding the domain of 8 cysteines (D8C), in patients with multiple myeloma (MM) with the secretion of monoclonal light chains (LC) in cast nephropathy (CN) and without kidney injury. SUBJECTS AND METHODS: The investigation enrolled 24 patients in MM remission, who were observed to have monoclonal LC secretion at onset. Group 1 included 14 patients with CN; Group 2 consisted of 10 patients with normal renal function (a comparison group)...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28882114/associations-of-genetic-variants-of-endothelin-with-cardiovascular-complications-in-patients-with-renal-failure
#2
Chih-Chin Kao, Shih-Ying Cheng, Mei-Yi Wu, Shu-Chen Chien, Hsing-Fang Lu, Yu-Wen Hsu, Yan-Feng Zhang, Mai-Szu Wu, Wei-Chiao Chang
BACKGROUND: Cardiovascular (CV) complications are the main cause of death in end-stage renal disease (ESRD) patients. The high CV risks are attributable to the additive effects of multiple factors. Endothelin (EDN) is a potent vasoconstrictor and plays a role in regulating vascular homeostasis. However, whether variants of the EDN gene are associated with risks of CV events is not known. We conducted a study to investigate associations of variants of the EDN gene with CV events in ESRD patients...
September 7, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28875890/new-onset-diabetes-after-transplant-incidence-risk-factors-and-outcome
#3
S C Alagbe, A Voster, R Ramesar, C R Swanepoel
BACKGROUND: The outcome of renal transplantation depends on achieving effective immunosuppression while minimising the consequences of such treatment. The occurrence of new-onset diabetes in the post-transplant period has been associated with several risk factors including some immunosuppressive medication. Better understanding of the clinical and genetic risk factors associated with new-onset diabetes after transplant (NODAT) could enable risk stratification of patients in the pre-transplant period, with the goal of applying measures that will reduce the incidence...
August 25, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28866378/association-of-impaired-renal-function-with-venous-thrombosis-a-genetic-risk-score-approach
#4
Romain Charmet, Astrid van Hylckama Vlieg, Marine Germain, Ronan Roussel, Michel Marre, Stéphanie Debette, Philippe Amouyel, Jean-François Deleuze, Samy Hadjadj, Frits R Rosendaal, Pierre-Emmanuel Morange, David-Alexandre Trégouët
OBJECTIVE: The association between impaired kidney function and venous thrombosis has been previously reported but supportive data are still sparse. We here wish to strengthen this association by investigating, by use of a genetic risk score approach, whether single nucleotide polymorphisms (SNPs) known to decrease the estimated glomerular filtration rate (eGFR), a surrogate marker for renal dysfunction, are associated with increased risk of venous thrombosis. APPROACH AND RESULTS: Fifty-one polymorphisms selected from the literature to robustly associate with eGFR were first tested for association with venous thrombosis in a French case-control collection of 1953 patients and 2338 healthy individuals...
August 25, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28858977/the-value-of-uromodulin-as-a-new-serum-marker-to-predict-decline-in-renal-function
#5
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/28845600/implications-of-impaired-zinc-homeostasis-in-diabetic-cardiomyopathy-and-nephropathy
#6
REVIEW
Robertina Giacconi, Lu Cai, Laura Costarelli, Maurizio Cardelli, Marco Malavolta, Francesco Piacenza, Mauro Provinciali
Impaired zinc homeostasis is observed in diabetes mellitus (DM2) and its complications. Zinc has a specific role in pancreatic β-cells via insulin synthesis, storage, and secretion. Intracellular zinc homeostasis is tightly controlled by zinc transporters (ZnT and Zip families) and metallothioneins (MT) which modulate the uptake, storage, and distribution of zinc. Several investigations in animal models demonstrate the protective role of MT in DM2 and its cardiovascular or renal complications, while a copious literature shows that a common polymorphism (R325W) in ZnT8, which affects the protein's zinc transport activity, is associated with increased DM2 risk...
August 27, 2017: BioFactors
https://www.readbyqxmd.com/read/28840058/p2x7-receptor-and-apoe-polymorphisms-and-survival-from-heart-failure-a-prospective-study-in-frail-patients-in-a-geriatric-unit
#7
Giuseppe Pasqualetti, Marta Seghieri, Eleonora Santini, Chiara Rossi, Edoardo Vitolo, Livia Giannini, Maria Giovanna Malatesta, Valeria Calsolaro, Fabio Monzani, Anna Solini
Heart failure (HF) is one of the most frequent cause of hospitalization in elderly and often coexists with concurrent geriatric syndromes, like cognitive disturbances; various pathophysiological mechanisms are shared by HF and cognitive decline, notably a substrate of low-grade inflammation. We investigated whether SNPs in the purinergic receptor (P2X7R) and apolipoprotein (APO) E genes, both involved in a series of inflammatory responses, are associated to HF or cognitive impairment and are able to predict post-discharge mortality in the elderly...
July 2017: Aging and Disease
https://www.readbyqxmd.com/read/28827564/the-profile-of-selected-single-nucleotide-polymorphisms-in-patients-with-hypertension-and-heart-failure-with-preserved-and-mid-range-ejection-fraction
#8
Agata Bielecka-Dabrowa, Agata Sakowicz, Tadeusz Pietrucha, Małgorzata Misztal, Piotr Chruściel, Jacek Rysz, Maciej Banach
The study aimed to assess the clinical significance of selected single nucleotide polymorphisms (SNPs) in patients with diastolic heart failure (HF): inflammation [-174 G/C Interleukin -6 (IL-6) rs1800795, tumor necrosis factor (TNF)-608 G/A rs1800629], fibrosis [Arg25Pro transforming growth factor β (TGF β) rs1800471], endothelial function [-786 T/C nitric oxide synthase (NOS) rs2070744], glucose and lipid metabolism [Pro12Ala peroxisome proliferator activated receptor (PPAR)γ rs1801282], and vitamin D metabolism [cytochrome P450 27B1 (CYP27B1) C-1260A]...
August 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28792917/association-between-abcb1-gene-polymorphism-and-renal-function-in-patients-with-hypertension-a-case-control-study
#9
Xiaofang Chen, Tao Zhou, Deguang Yang, Jinyang Lu
BACKGROUND A previous study found that target organ damage in patients with hypertension was related to genetic factors. The aim of our study aim was to explore the association between the ABCB1 gene and renal function injury induced by hypertension. MATERIAL AND METHODS We used a case-control study design. Patients with hypertension were enrolled from our hospital between July 2015 and December 2015. Questionnaire data included personal information, life habits and behavior. Clinical data included blood routine examination and liver and renal function...
August 9, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28721832/biomarkers-associated-with-bleeding-risk-in-the-setting-of-atrial-fibrillation
#10
Skevos Sideris, Stefanos Archontakis, George Latsios, George Lazaros, Konstantinos Toutouzas, Eleftherios Tsiamis, Manolis Vavuranakis, Charalampos Vlachopoulos, Konstantinos Gatzoulis, Konstantinos Tsioufis, Dimitris Tousoulis
Background Prevention of thromboembolic disease, mainly stroke, with oral anticoagulants remains a major therapeutic goal in patients with atrial fibrillation. Unfortunately, despite the high efficacy, anticoagulant therapy is associated with a significant risk of, frequently catastrophic, hemorrhagic complications. Among different clinical and laboratory parameters related to an increased risk of bleeding, several biological markers have been recognized and various risk scores for bleeding have been developed...
July 18, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28716390/impact-of-cytokine-genetic-polymorphisms-on-the-risk-of-renal-parenchymal-infection-in-children
#11
Almontaser Hussein, Eman Askar, Ahlam Badawy, Khaled Saad, Asmaa Zahran, Ahmad A Elderwy
BACKGROUND: Acute pyelonephritis is associated with renal scarring in up to 30% of patients. Renal scarring may cause significant long-term morbidity. The pathogenesis of acute pyelonephritis remains unclear, although it involves interaction among uroepithelium, the immune system cells, and the locally produced cytokines. That some UTI-prone children develop acute pyelonephritis, and eventually renal parenchymal scarring, suggests a genetic role. Interleukin-6, interleukin-8, chemokine receptor-1 (CXCR1), and tumor necrosis factor-alpha (TNFα), the key regulators of the host immune responses, are proteins whose secretion is controlled by genes...
July 3, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28704257/the-combination-of-cyp3a4-22-and-cyp3a5-3-single-nucleotide-polymorphisms-determines-tacrolimus-dose-requirement-after-kidney-transplantation
#12
Nuria Lloberas, Laure Elens, Ines Llaudó, Ariadna Padullés, Teun van Gelder, Dennis A Hesselink, Helena Colom, Franc Andreu, Joan Torras, Oriol Bestard, Josep M Cruzado, Salvador Gil-Vernet, Ron van Schaik, Josep M Grinyó
INTRODUCTION: Tacrolimus (Tac) has a narrow therapeutic window and shows large between-patient pharmacokinetic variability. As a result, over-immunosuppression and under-immunosuppression are frequently encountered in daily clinical practice. Unraveling the impact of genetic polymorphisms on Tac pharmacokinetics may help to refine therapy. In this study, the associations of single-nucleotide polymorphisms (SNPs) in drug-metabolizing enzymes (CYP3A) with Tac pharmacokinetics were investigated in renal transplant recipients...
September 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28689648/clinical-and-genetic-characterization-of-chinese-pediatric-cystine-stone-patients
#13
Luming Shen, Xiaoming Cong, Xin Zhang, Ninghong Wang, Ping Zhou, Yan Xu, Qingyi Zhu, Xiaojian Gu
INTRODUCTION: Cystine stone is the only clinical manifestation in patients with cystinuria, which is an autosomal recessive inheritable disease. However, clinical and genetic data vary among patients in different countries. OBJECTIVE: To investigate the characteristics of Chinese pediatric cystine stone patients. PATIENTS AND METHODS: Thirteen pediatric patients with cystine stones were evaluated in our clinic between 2012 and 2015. Gene mutations in SLC3A1 and SLC7A9 were investigated...
June 24, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28678049/impact-of-abcb1-abcg2-and-cyp3a5-polymorphisms-on-plasma-trough-concentrations-of-apixaban-in-japanese-patients-with-atrial-fibrillation
#14
Satoshi Ueshima, Daiki Hira, Ryo Fujii, Yuuma Kimura, Chiho Tomitsuka, Takuya Yamane, Yohei Tabuchi, Tomoya Ozawa, Hideki Itoh, Minoru Horie, Tomohiro Terada, Toshiya Katsura
OBJECTIVES: During anticoagulant therapy, major bleeding is one of the most severe adverse effects. This study aimed to evaluate the relationships between ABCB1, ABCG2, and CYP3A5 polymorphisms and plasma trough concentrations of apixaban, a direct inhibitor of coagulation factor X. PATIENTS AND METHODS: A total of 70 plasma concentrations of apixaban from 44 Japanese patients with atrial fibrillation were analyzed. In these analyses, the plasma trough concentration/dose (C/D) ratio of apixaban was used as a pharmacokinetic index and all data were stratified according to the presence of ABCB1 (ABCB1 1236C>T, 2677G>T/A, and 3435C>T), ABCG2 (ABCG2 421C>A), and CYP3A5 (CYP3A5*3) polymorphisms...
September 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28652430/the-contribution-of-mmp-7-promoter-polymorphisms-in-renal-cell-carcinoma
#15
Cheng-Hsi Liao, Wen-Shin Chang, Pei-Shin Hu, Hsi-Chin Wu, Shih-Wei Hsu, Yen-Fang Liu, Shih-Ping Liu, Huey-Shan Hung, DA-Tian Bau, Chia-Wen Tsai
BACKGROUND/AIM: Mounting evidence has suggested that polymorphisms in the promoters of matrix metalloproteinase (MMP) genes are associated with the risk of many types of cancer, but no study has ever explored these polymorphisms as biomarkers for renal cell cancer (RCC). Recently, it was suggested that serum MMP-7 levels have both diagnostic and prognostic potential for RCC. In this study, we focused on the contribution of two functional polymorphisms in the promoter region of MMP-7 (A-181G and C-153T) to RCC...
July 2017: In Vivo
https://www.readbyqxmd.com/read/28641625/-effect-of-gstp1-and-mthfr-gene-polymorphism-on-side-effects-of-hd-mtx-in-all-children
#16
Fei Li, Dan-Dan Yin, Xiao-Lan Zhou, Jian-Mei Ma, Hong-Mei Guo, Li Meng
OBJECTIVE: To Study the effect of C677T and MTHFR gene polymorphism on side effects of HD-MTX in ALL children. METHODS: The gene polymorphism of C677T A303G and MTHFR C677T were detected by PCR in 98 ALL children from January 2014 to January 2016. The side effects during HD-MTX therapy were observed, and the relationship among GSTP1, MTHFR gene polymorphism and incidence of side effect of HD-MTX were analyzed. RESULTS: Among 98 ALL children, the gene variation was observed in 61 ALL children (62...
June 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28640195/pharmacogenomic-variants-may-influence-the-urinary-excretion-of-novel-kidney-injury-biomarkers-in-patients-receiving-cisplatin
#17
Cara Chang, Yichun Hu, Susan L Hogan, Nickie Mercke, Madeleine Gomez, Cindy O'Bryant, Daniel W Bowles, Blessy George, Xia Wen, Lauren M Aleksunes, Melanie S Joy
Nephrotoxicity is a dose limiting side effect associated with the use of cisplatin in the treatment of solid tumors. The degree of nephrotoxicity is dictated by the selective accumulation of cisplatin in renal tubule cells due to: (1) uptake by organic cation transporter 2 (OCT2) and copper transporter 1 (CTR1); (2) metabolism by glutathione S-transferases (GSTs) and γ-glutamyltransferase 1 (GGT1); and (3) efflux by multidrug resistance-associated protein 2 (MRP2) and multidrug and toxin extrusion protein 1 (MATE1)...
June 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28624888/steady-state-pharmacokinetics-of-mycophenolic-acid-in-renal-transplant-patients-exploratory-analysis-of-the-effects-of-cyclosporine-recipients-and-donors-abcc2-gene-variants-and-their-interactions
#18
N Božina, Z Lalić, S Nađ-Škegro, A Borić-Bilušić, T Božina, Ž Kaštelan, V Trkulja
PURPOSE: The study aims to evaluate the impact of recipients' and donors' polymorphisms in multidrug resistance-associated protein 2 (MRP2) gene ABCC2 -24C>T and 1249G>A on disposition of mycophenolic acid (MPA) and their interaction with cyclosporine (CsA) (compared to tacrolimus, TAC) in stable de novo adult renal transplant patients of Croatian origin. METHODS: A total of 68 recipient-donor pairs were genotyped. Steady-state pharmacokinetics of MPA was assessed by the model-independent method...
September 2017: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28604474/impact-of-cyp2c19-genotype-and-liver-function-on-voriconazole-pharmacokinetics-in-renal-transplant-recipients
#19
Zi-Wei Li, Feng-Hua Peng, Miao Yan, Wu Liang, Xiao-Lei Liu, Yan-Qin Wu, Xiao-Bin Lin, Sheng-Lan Tan, Feng Wang, Ping Xu, Ping-Fei Fang, Yi-Ping Liu, Da-Xiong Xiang, Bi-Kui Zhang
BACKGROUND: Invasive fungal infection (IFI) is one of the leading causes of early death after renal transplantation. Voriconazole (VRC) is the first-line drug of IFI. Because of the large inter- and intraindividual variability in VRC plasma concentrations and the narrow therapeutic window for treating patients with IFIs, it is crucial to study the factors which could influence pharmacokinetic variability. We performed a population pharmacokinetics (PPK) study of VRC for personalized medicine...
August 2017: Therapeutic Drug Monitoring
https://www.readbyqxmd.com/read/28598953/uromodulin-associates-with-cardiorenal-function-in-patients-with-hypertension-and-cardiovascular-disease
#20
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
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