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Polymorphism and renal function

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https://www.readbyqxmd.com/read/29792121/abcg2-polymorphism-rs2231142-and-hypothyroidism-in-metastatic-renal-cell-carcinoma-patients-treated-with-sunitinib
#1
Emilie Werbrouck, Julie Bastin, Diether Lambrechts, Annelies Verbiest, Thomas Van Brussel, Evelyne Lerut, Jean-Pascal Machiels, Vincent Verschaeve, Vincent Richard, Philip R Debruyne, Brigitte Decallonne, Patrick Schöffski, Oliver Bechter, Pascal Wolter, Benoit Beuselinck
Background and aim Vascular endothelial growth factor receptor tyrosine kinase inhibitors (VEGFR-TKIs) cause significant adverse events including thyroid dysfunction, mainly hypothyroidism, in a considerable proportion of patients. In a series of metastatic renal cell carcinoma (mRCC) patients treated with sunitinib, we aimed to study the correlation between hypothyroidism and single nucleotide polymorphisms (SNPs) in genes involved in sunitinib pharmacokinetics and pharmacodynamics. Patients and methods We included 79 mRCC patients who started sunitinib between November 2005 and March 2016...
May 23, 2018: Acta Clinica Belgica
https://www.readbyqxmd.com/read/29782306/urticarial-lesions-in-a-pregnant-woman
#2
Sergio Santos-Alarcón, Cesar Benavente-Villegas, Isabel García-Briz, Magdalena Moneva-Léniz, Celia Sanchis-Sánchez, Almudena Mateu-Puchades
Dear Editor, Gestational pemphigoid (GP) is a rare autoimmune bullous dermatosis in pregnancy. GP usually occurs during the second or third month of pregnancy. It clinically manifests as the development of either early-onset urticarial lesions or late-onset subepidermal blisters that may linger for weeks or even months. Herein we report the case of a 45-year-old woman with the distinctive clinical onset of GP. A forty-five-year-old woman, gravida I, para 0, at 27 weeks gestation, was referred for evaluation to our Department with an extensive pruritic eruption that had developed over the previous 7 days...
April 2018: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/29779043/glis1-3-transcription-factors-critical-roles-in-the-regulation-of-multiple-physiological-processes-and-diseases
#3
REVIEW
Anton M Jetten
Krüppel-like zinc finger proteins form one of the largest families of transcription factors. They function as key regulators of embryonic development and a wide range of other physiological processes, and are implicated in a variety of pathologies. GLI-similar 1-3 (GLIS1-3) constitute a subfamily of Krüppel-like zinc finger proteins that act either as activators or repressors of gene transcription. GLIS3 plays a critical role in the regulation of multiple biological processes and is a key regulator of pancreatic β cell generation and maturation, insulin gene expression, thyroid hormone biosynthesis, spermatogenesis, and the maintenance of normal kidney functions...
May 19, 2018: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29775201/tacrolimus-population-pharmacokinetics-and-multiple-cyp3a5-genotypes-in-black-and-white-renal-transplant-recipients
#4
Olivia Campagne, Donald E Mager, Daniel Brazeau, Rocco C Venuto, Kathleen M Tornatore
Tacrolimus exhibits inter-patient pharmacokinetic variability attributed to CYP3A5 isoenzymes and the efflux transporter, P-glycoprotein. Most black renal transplant recipients require higher tacrolimus doses compared to whites to achieve similar troughs when race-adjusted recommendations are used. An established guideline provides tacrolimus genotype dosing recommendations based on CYP3A5*1(W/T) and loss of protein function variants: CYP3A5*3 (rs776746), CYP3A5*6 (rs10264272), CYP3A5*7 (rs41303343) and may provide more comprehensive race-adjusted dosing recommendations...
May 18, 2018: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29734839/genetic-variants-in-macrophage-colony-stimulating-factor-are-associated-with-risk-of-renal-cell-carcinoma-in-a-chinese-population
#5
Xiao Li, Zhiqiang Qin, Jianxin Xue, Jianzhong Zhang, Yuxiao Zheng, Weizhang Xu, Ting Xu, Qing Zou
OBJECTIVE: This study was performed to investigate whether CSF-1 polymorphisms influenced the risk of renal cell carcinoma in a Chinese population. METHODS: The potentially functional polymorphisms in CSF-1 (rs333951 and rs2050462) were genotyped in this hospital-based case-control study, comprising 1512 renal cell carcinoma patients and 1691 controls in a Chinese population using the TaqMan assay. Furthermore, odds ratios (ORs) and 95% confidence intervals (CI) were used to estimate such an association...
May 1, 2018: International Journal of Biological Markers
https://www.readbyqxmd.com/read/29725635/vascular-endothelial-growth-factor-gene-polymorphism-is-associated-with-long-term-kidney-allograft-outcomes
#6
Swayam Prakash, Manas Ranjan Patel, Suraksha Agrawal, Rahul M Jindal, Narayan Prasad
Introduction: Vascular endothelial growth factor (VEGF) regulates vasculogenesis in physiological and pathological states. We evaluated the role of VEGF single-nucleotide polymorphisms (SNPs) -1154 G/A, -2578 C/A, +936 C/T, and -2549 Ins/Del in chronic allograft nephropathy. Methods: Blood samples were collected before renal transplantation, and DNA was extracted. Genotyping of VEGF SNPs -1154 G/A (rs1570360), -2578 C/A (rs699947), +936 C/T (rs112005313), and -2549 Ins/Del (18bpindel) polymorphisms were carried out...
March 2018: KI Reports
https://www.readbyqxmd.com/read/29615122/effect-of-cyp3-a4-cyp3-a5-and-abcb1-gene-polymorphisms-on-the-clinical-efficacy-of-tacrolimus-in-the-treatment-of-nephrotic-syndrome
#7
Min Li, Min Xu, Wei Liu, Xin Gao
BACKGROUND: The efficacy of tacrolimus (TAC) is variable in the treatment of nephrotic syndrome (NS), which might be related to genetic variation among patients. Therefore, we aim to investigate the effects of CYP3 A4, CYP3 A5 and ABCB1 gene polymorphisms on the clinical efficacy of TAC in the treatment of NS patients. Methods 100 NS patients were treated with TAC and prednisone and followed up for 3 months. Genotype differences (CYP3 A4*1G, CYP3 A5*3, ABCB1 1236C > T and ABCB1 2677G > T/A) were detected by Sanger sequencing...
April 3, 2018: BMC Pharmacology & Toxicology
https://www.readbyqxmd.com/read/29601852/gene-variants-in-the-nf-kb-pathway-nfkb1-nfkbia-nfkbiz-and-their-association-with-type-2-diabetes-and-impaired-renal-function
#8
Eliecer Coto, Carmen Díaz Corte, Salvador Tranche, Juan Gómez, Belén Alonso, Sara Iglesias, Julián R Reguero, Carlos López-Larrea, Pablo Coto-Segura
The NF-kappaB pathway might play a role in the pathogenesis of renal disease and type 2 diabetes (T2DM). Our aim was to determine whether common polymorphisms in NF-kappaB genes were associated with impaired renal function and T2DM in a cohort of healthy elderly individuals. We studied 487 individuals, all Caucasian and aged 65-85 years. A total of 104 (21%) had impaired renal function (estimated glomerular filtration rate, eGFR<60) and 146 (30%) were classified as diabetics. The genotypes of 4 common variants were determined through PCR-RFLP or fluorescent capillary electrophoresis...
March 27, 2018: Human Immunology
https://www.readbyqxmd.com/read/29595914/uromodulin-deficiency-alters-tubular-injury-and-interstitial-inflammation-but-not-fibrosis-in-experimental-obstructive-nephropathy
#9
Olena Maydan, Paul G McDade, Yan Liu, Xue-Ru Wu, Douglas G Matsell, Allison A Eddy
Human GWAS and Mendelian genetic studies have linked polymorphic variants and mutations in the human uromodulin gene (UMOD) with chronic kidney disease. The primary function of this kidney-specific and secreted protein remains elusive. This study investigated whether UMOD deficiency modified responses to unilateral ureteral obstruction (UUO)-induced kidney injury. Kidneys harvested from groups of wild-type (UMOD+/+) and knockout (UMOD-/-) male mice (n = 7-10 each) were studied on days 7, 14, and 21. Compared to sham kidneys, UMOD protein levels increased 9-13x after UUO and were associated with increased urinary UMOD levels...
March 2018: Physiological Reports
https://www.readbyqxmd.com/read/29592796/c3-glomerulopathy-in-cystic-fibrosis-a-case-report
#10
Domenico Santoro, Rossella Siligato, Carmela Vadalà, Mariacristina Lucanto, Simona Cristadoro, Giovanni Conti, Michele Buemi, Stefano Costa, Ettore Sabadini, Giuseppe Magazzù
BACKGROUND: C3 glomerulonephritis is a rare glomerulopathy characterized at renal biopsy by C3 deposition, alone or with scanty immunoglobulins, as well as by an electron-dense material in mesangium, subendothelial and subepithelial space. An abnormal systemic activation of the alternative pathway of the complement cascade is responsible for the development of the disease if triggered by several possible environmental conditions. We report the first case in literature of a patient affected by cystic fibrosis and C3GN...
March 28, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29576375/fc-effector-function-contributes-to-the-activity-of-human-anti-ctla-4-antibodies
#11
Frederick Arce Vargas, Andrew J S Furness, Kevin Litchfield, Kroopa Joshi, Rachel Rosenthal, Ehsan Ghorani, Isabelle Solomon, Marta H Lesko, Nora Ruef, Claire Roddie, Jake Y Henry, Lavinia Spain, Assma Ben Aissa, Andrew Georgiou, Yien Ning Sophia Wong, Myles Smith, Dirk Strauss, Andrew Hayes, David Nicol, Tim O'Brien, Linda Mårtensson, Anne Ljungars, Ingrid Teige, Björn Frendéus, Martin Pule, Teresa Marafioti, Martin Gore, James Larkin, Samra Turajlic, Charles Swanton, Karl S Peggs, Sergio A Quezada
With the use of a mouse model expressing human Fc-gamma receptors (FcγRs), we demonstrated that antibodies with isotypes equivalent to ipilimumab and tremelimumab mediate intra-tumoral regulatory T (Treg) cell depletion in vivo, increasing the CD8+ to Treg cell ratio and promoting tumor rejection. Antibodies with improved FcγR binding profiles drove superior anti-tumor responses and survival. In patients with advanced melanoma, response to ipilimumab was associated with the CD16a-V158F high affinity polymorphism...
March 8, 2018: Cancer Cell
https://www.readbyqxmd.com/read/29569387/a-novel-functional-polymorphism-of-gstm3-reduces-clear-cell-renal-cell-carcinoma-risk-through-enhancing-its-expression-by-interfering-mir-556-binding
#12
Ying Wang, Zi-Ying Yang, Yi-Huan Chen, Feng Li, Han Shen, You Yu, Hao-Yue Huang, Zhen-Ya Shen
Dysregulation of glutathione-S-transferase M3 (GSTM3) has been related to clear cell renal cell carcinoma (ccRCC) in our former study. GSTM3 plays a pivotal role of detoxification and clearance of reactive oxygen species (ROS) in tumour tissues. This study aimed to examine: (1) the associations between GSTM3 single nucleotide polymorphisms (SNPs) and risk of ccRCC, and (2) the potential molecular mechanism accounting for its effects. 5 SNPs in 3'UTR of GSTM3 were initially genotyped in 329 cases and 420 healthy controls...
March 22, 2018: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29524578/impact-of-enos-27-bp-vntr-4b-a-gene-polymorphism-with-the-risk-of-systemic-lupus-erythematosus-in-south-indian-subjects
#13
Shiva Krishna Katkam, Bobbala Indumathi, Fatima S D Tasneem, Liza Rajasekhar, Vijay Kumar Kutala
OBJECTIVE: Endothelial nitric oxide synthase (eNOS) is constitutively expressed by vascular endothelium including glomerular endothelium. Functional polymorphisms, -786T>C (rs2070744) promoter variant, 27 bp VNTR (4b/a) in intron 4 and 894G>T (rs1799983) exon variant of eNOS are known to alter the eNOS expression and activity leading to altered NO levels and contribute to the development of vascular and renal disease risk. Thus it might have a role in SLE risk and development of glomerulonephritis...
June 5, 2018: Gene
https://www.readbyqxmd.com/read/29520080/impact-of-cyp2c19-polymorphism-in-prognosis-of-minor-stroke-or-tia-patients-with-declined-egfr-on-dual-antiplatelet-therapy-chance-substudy
#14
Yu Wu, Yilun Zhou, Yuesong Pan, Xingquan Zhao, Liping Liu, David Wang, Chunxue Wang, Hao Li, S Claiborne Johnston, Xia Meng, Yilong Wang, Yongjun Wang
Clopidogrel resistance is prevalent in chronic kidney disease (CKD) patients. Genetic polymorphism is considered to be the most important factor that influences clopidogrel resistance. Limited data exist as to the role of pharmacogenetics in prognosis of stroke patients with impaired renal function on clopidogrel. We sought to explore whether decreased kidney function alters the association between CYP2C19 genetic variants and clinical outcome in patients with minor stroke or transient ischemic attack (TIA) receiving clopidogrel therapy...
March 8, 2018: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/29503246/polymorphisms-in-the-von-hippel-lindau-gene-are-associated-with-overall-survival-in-metastatic-clear-cell-renal-cell-carcinoma-patients-treated-with-vegfr-tyrosine-kinase-inhibitors
#15
Annelies Verbiest, Diether Lambrechts, Thomas Van Brussel, Gabrielle Couchy, Agnieszka Wozniak, Arnaud Méjean, Evelyne Lerut, Stéphane Oudard, Virginie Verkarre, Sylvie Job, Aurélien de Reynies, Jean-Pascal Machiels, Jean-Jacques Patard, Jessica Zucman-Rossi, Benoit Beuselinck
BACKGROUND: Clear-cell renal-cell carcinoma (ccRCC) is characterized by loss of a functional Von Hippel-Lindau (VHL) protein. We investigated the potential of 3 single nucleotide polymorphisms (SNPs) in VHL as biomarkers in metastatic ccRCC (m-ccRCC) patients treated with vascular endothelial growth factor receptor (VEGFR) tyrosine kinase inhibitors (TKIs). PATIENTS AND METHODS: We genotyped 3 VHL SNPs in 199 m-ccRCC patients: rs1642742 T > C, rs1642743 A > G, and rs1678607 C > A...
February 5, 2018: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/29457840/population-pharmacokinetics-and-pharmacogenomics-of-apixaban-in-japanese-adult-patients-with-atrial-fibrillation
#16
Satoshi Ueshima, Daiki Hira, Yuuma Kimura, Ryo Fujii, Chiho Tomitsuka, Takuya Yamane, Yohei Tabuchi, Tomoya Ozawa, Hideki Itoh, Seiko Ohno, Minoru Horie, Tomohiro Terada, Toshiya Katsura
AIMS: This study aimed to analyse the effects of genetic polymorphisms in drug transporters and metabolizing enzymes, and clinical laboratory data on the pharmacokinetic parameters of apixaban. METHODS: Data were collected from 81 Japanese patients with atrial fibrillation. Pharmacogenomic data were stratified by ABCB1, ABCG2 and CYP3A5 polymorphisms. The pharmacokinetic profile of apixaban was described by a one-compartment model with first-order absorption. Population pharmacokinetic analysis was conducted using a nonlinear mixed effect modelling (NONMEM™) program...
February 19, 2018: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29407292/impact-of-interleukin-17f-gene-polymorphisms-in-outcome-of-kidney-transplantation-in-tunisian-recipients
#17
Y Haouami, I Sfar, T Dhaouadi, T Gargah, M Bacha, R Bardi, E Abderrahim, R Goucha, M Ounissi, T Ben Abdallah, Y Gorgi
BACKGROUND: Genetic polymorphisms of interleukin (IL)-17F, associated with functional and/or quantitative change in this glycoprotein, have been described as predisposing to various autoimmune diseases. The proinflammatory IL-17 has some roles in renal transplantation. In this context, the relationship between the most common IL-17F polymorphisms with acute renal allograft rejection susceptibility in Tunisian renal recipients has been investigated. METHODS: We examined 93 renal transplant recipients who were enrolled and classified as follows: GI, 48 transplant recipients who developed at least one episode of acute rejection; and GII, 45 controls, kidney recipients who also were followed for at least 1 year and had stable renal function...
January 2018: Transplantation Proceedings
https://www.readbyqxmd.com/read/29380920/interleukin-10-1082a-g-polymorphism-is-associated-with-renal-parenchymal-damage-in-congenital-anomalies-of-the-kidney-and-urinary-tract
#18
Lyuba Dineva Miteva, Emilya Stambolova Kostadinova, Spaska Angelova Stanilova
AIM: The aim of the study was to investigate whether the functional IL10-1082A/G polymorphism exert a role in congenital anomalies of the kidney and urinary tract (CAKUT) in children. Also, the serum IL-10 and its association with genotype and renal parenchymal damage in CAKUT were explored. METHODS: In current case-control study, 134 paediatric cases of CAKUT and 382 unrelated controls were included. The genotyping of IL10-1082A/G polymorphism was performed by amplification refractory mutation system-PCR and IL-10 serum level was determined by ELISA...
January 30, 2018: Nephrology
https://www.readbyqxmd.com/read/29357410/tamm-horsfall-protein-uromodulin-deficiency-elicits-tubular-compensatory-responses-leading-to-hypertension-and-hyperuricemia
#19
Yan Liu, David Goldfarb, Tarek M El-Achkar, John C Lieske, Xue-Ru Wu
Expression of Tamm-Horsfall protein (THP or uromodulin) is highly restricted to the kidneys' thick ascending limb (TAL) of loop of Henle. Despite the unique location and recent association of THP gene mutations with hereditary uromodulin-associated kidney disease and THP single nucleotide polymorphisms with chronic kidney disease and hypertension, the physiological function(s) of THP and its pathological involvement remain incompletely understood. By studying age-dependent changes of THP knockout (KO) mice, we show here that young KO mice had significant salt and water wasting but were partially responsive to furosemide, due to decreased luminal translocation of Na-K-Cl cotransporter 2 (NKCC2) in the TAL...
January 10, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29323730/biochemical-and-molecular-study-on-interleukin-1%C3%AE-gene-expression-and-relation-of-single-nucleotide-polymorphism-in-promoter-region-with-type-2-diabetes-mellitus
#20
Safaa I Tayel, Eman A M Fouda, Elsayed I Elshayeb, Asmaa R A Eldakamawy, Salah M El-Kousy
Interleukin-1β (IL-1β) assumes a centric role in the regulation of immune and inflammatory responses and thus has been recognized in immune mediated diseases like type 2 diabetes mellitus (T2DM). We aimed to investigate expressed level of IL-1β and its relation with IL-1β -511T>C polymorphism in T2DM patients. This study enrolled 80 subjects (50 patients with T2DM and 30 healthy control subjects). Laboratory investigations included fasting (FBG) and 2 h postprandial blood sugar (2 h PBG), HBA1c, lipid profile, and renal function tests...
January 11, 2018: Journal of Cellular Biochemistry
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