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Polymorphism and renal function

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https://www.readbyqxmd.com/read/28641625/-effect-of-gstp1-and-mthfr-gene-polymorphism-on-side-effects-of-hd-mtx-in-all-children
#1
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
#2
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
#3
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...
June 18, 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
#4
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, Bui-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 intra-individual 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...
June 8, 2017: Therapeutic Drug Monitoring
https://www.readbyqxmd.com/read/28598953/uromodulin-associates-with-cardiorenal-function-in-patients-with-hypertension-and-cardiovascular-disease
#5
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/28590937/tacrolimus-dose-requirement-based-on-the-cyp3a5-genotype-in-renal-transplant-patients
#6
Lihui Qu, Yingying Lu, Meike Ying, Bingjue Li, Chunhua Weng, Zhoutao Xie, Ludan Liang, Chuan Lin, Xian Yang, Shi Feng, Yucheng Wang, Xiujin Shen, Qin Zhou, Ying Chen, Zhimin Chen, Jianyong Wu, Weiqiang Lin, Yi Shen, Jing Qin, Hang Xu, Feng Xu, Junwen Wang, Jianghua Chen, Hong Jiang, Hongfeng Huang
Tacrolimus (FK506) and cyclosporine A (CsA) are widely used to protect graft function after renal transplantation. The aim of the present study is to determine whether the single nucleotide polymorphism of CYP3A5 is a predictive index of FK506 dose requirement, and also the selection yardstick of FK506 or CsA treatment.We tested archival peripheral blood of 218 kidney recipients for CYP3A5 genotyping with PCR-SSP. Meanwhile, the dose of FK506 and CsA was recorded, blood concentration of the drugs was measured, and graft outcome was monitored...
May 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28558704/genome-wide-network-based-pathway-analysis-of-csf-t-tau-a%C3%AE-1-42-ratio-in-the-adni-cohort
#7
Wang Cong, Xianglian Meng, Jin Li, Qiushi Zhang, Feng Chen, Wenjie Liu, Ying Wang, Sipu Cheng, Xiaohui Yao, Jingwen Yan, Sungeun Kim, Andrew J Saykin, Hong Liang, Li Shen
BACKGROUND: The cerebrospinal fluid (CSF) levels of total tau (t-tau) and Aβ1-42 are potential early diagnostic markers for probable Alzheimer's disease (AD). The influence of genetic variation on these CSF biomarkers has been investigated in candidate or genome-wide association studies (GWAS). However, the investigation of statistically modest associations in GWAS in the context of biological networks is still an under-explored topic in AD studies. The main objective of this study is to gain further biological insights via the integration of statistical gene associations in AD with physical protein interaction networks...
May 30, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28552948/association-of-gain-of-function-ephx2-polymorphism-lys55arg-with-acute-kidney-injury-following-cardiac-surgery
#8
Megan M Shuey, Frederic T Billings, Shouzou Wei, Ginger L Milne, Hui Nian, Chang Yu, Nancy J Brown
Twenty to thirty percent of patients undergoing cardiac surgery develop acute kidney injury (AKI). In mice, inhibition of soluble epoxide hydrolase (sEH) attenuates renal injury following ischemia-reperfusion. We tested the hypothesis that functional variants of EPHX2, encoding sEH, are associated with AKI after cardiac surgery. We genotyped patients in two independent cardiac surgery cohorts for functional EPHX2 polymorphisms, Lys55Arg and Arg287Gln, and determined AKI using Acute Kidney Injury Network criteria...
2017: PloS One
https://www.readbyqxmd.com/read/28543713/potential-protective-role-of-grainyhead-like-genes-in-the-development-of-clear-cell-renal-cell-carcinoma
#9
Magdalena Pawlak, Agnieszka Kikulska, Tomasz Wrzesinski, Tobias Rausch, Zbigniew Kwias, Bartek Wilczynski, Vladimir Benes, Joanna Wesoly, Tomasz Wilanowski
The involvement of Grainyhead-like (GRHL) transcription factors in various cancers is well documented. However, little is known about their role in clear cell renal cell carcinoma (ccRCC). We discovered that the expression of two of these factors-GRHL1 and GRHL2-are downregulated in ccRCC samples, and their expression is correlated with the expression of VHL gene. This suggests a functional link between the GRHL transcription factors and one of the best known tumor suppressors. Although the GRHL genes are not mutated in ccRCC, some of the single nucleotide polymorphisms in these genes may indicate an increased risk of ccRCC development and/or may allow to assess patients' prognoses and predict their responses to various forms of therapy...
May 23, 2017: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/28536887/ficolin-2-gene-rs7851696-polymorphism-is-associated-with-delayed-graft-function-and-acute-rejection-in-kidney-allograft-recipients
#10
Ewa Dabrowska-Zamojcin, Michal Czerewaty, Damian Malinowski, Maciej Tarnowski, Sylwia Słuczanowska-Głabowska, Leszek Domanski, Krzysztof Safranow, Andrzej Pawlik
Ficolin-2 is an activator of the complement system that acts via the lectin pathway. Complement activation plays a substantial role in the renal injury inherent to kidney transplantation. In this study, we examined the associations between ficolin-2 gene polymorphisms in exon 8 and kidney allograft function. This study comprised 270 Caucasian deceased-donor renal transplant recipients. The following parameters were recorded in each case: delayed graft function (DGF), acute rejection (AR), and chronic allograft dysfunction...
May 23, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28532626/single-nucleotide-polymorphisms-of-abcc2-modulate-renal-secretion-of-endogenous-organic-anions
#11
Kienana Muhrez, Bérenger Largeau, Patrick Emond, Frédéric Montigny, Jean-Michel Halimi, Patrick Trouillas, Chantal Barin-Le Guellec
The ATP-binding cassette family transporter MRP2 (multidrug resistance-associated protein 2), encoded by the ABCC2 gene, is involved in the renal excretion of numerous xenobiotics and it is likely that it also transports many endogenous molecules arising from not only normal essential metabolic processes but also from environmental toxins or food intake. We used a targeted gas chromatography-mass spectrometry metabolomics analysis to study whether endogenous organic anions are differentially excreted in urines of healthy volunteers according to their genotype for three functional single nucleotide polymorphisms (SNPs) in ABCC2...
May 19, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/28499019/t-cadherin-gene-variants-are-associated-with-nephropathy-in-subjects-with-type-1-diabetes
#12
Anthony Nicolas, Kamel Mohammedi, Jean-Philippe Bastard, Soraya Fellahi, Naima Bellili-Muñoz, Ronan Roussel, Samy Hadjadj, Michel Marre, Gilberto Velho, Frédéric Fumeron
Background.: High plasma adiponectin levels are associated with diabetic nephropathy (DN). T-cadherin gene ( CDH13 ) variants have been shown to be associated with adiponectin levels. We investigated associations between allelic variations of CDH13 and DN in subjects with type 1 diabetes. Methods.: Two CDH13 polymorphisms were analysed in 1297 Caucasian subjects with type 1 diabetes from the 'Survival Genetic Nephropathy' (SURGENE) ( n = 340, 10-year follow-up), 'Genesis France-Belgium' (GENESIS) ( n = 501, 5-year follow-up for n = 462) and 'Génétique de la Néphropathie Diabétique' (GENEDIAB) ( n = 456, 9-year follow-up for n = 283) cohorts...
May 12, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28495802/a-common-nhe3-single-nucleotide-polymorphism-has-normal-function-and-sensitivity-to-regulatory-ligands
#13
Jianyi Yin, Chung-Ming Tse, Boyoung Cha, Rafiqual Sarker, Xinjun C Zhu, Anna Walentinsson, Peter J Greasley, Mark Donowitz
Na(+)/H(+) exchanger NHE3 mediates the majority of intestinal and renal electroneutral sodium absorption. Dysfunction of NHE3 is associated with a variety of diarrheal diseases. We previously reported that the NHE3 gene (SLC9A3) has more than 400 single nucleotide polymorphisms (SNPs) but few non-synonymous polymorphisms. Among the latter, one polymorphism (rs2247114-G>A), which causes a substitution from arginine to cysteine at amino acid position 799 (p.R799C), is common in Asian populations. To improve our understanding of the population distribution and potential clinical significance of the NHE3-799C variant, we investigated the frequency of this polymorphism in different ethnic groups using bioinformatics analyses, and in a cohort of Japanese patients with cardiovascular or renal disease...
May 11, 2017: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/28495658/genomics-of-hypertension
#14
Sandosh Padmanabhan, Alisha Aman, Anna F Dominiczak
A complex network of interacting pathways involving renal, neural, endocrine, vascular and other mechanisms controls the main determinants of blood pressure - cardiac output and total peripheral resistance. Multiple genes within each of these systems contribute to the specialized functions regulating blood pressure. The monogenic forms of blood pressure dysregulation have provided valuable insights into blood pressure regulation and expanded our understanding of both the mechanisms and the treatment of hypertension...
May 8, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/28479383/association-of-irisin-and-fndc5-rs16835198-g-t-gene-polymorphism-with-type-2-diabetes-mellitus-and-diabetic-nephropathy-an-egyptian-pilot-study
#15
Emad Gamil Khidr, Shawkey Seddik Ali, Mostafa Mahmoud El-Shafaey, Olfat Ahmed Fawzy
Diabetes mellitus is a fast-growing health problem in Egypt affecting morbidity, mortality and health care resources. Irisin, a new exercise-induced myokine inducing browning of white adipose tissues, has gained a great interest as a potential new target for combating type 2 diabetes mellitus (T2DM) and its complications. In this study, we assessed serum irisin levels in T2DM and diabetic nephropathy to elucidate possible relationships between irisin and metabolic parameters and renal functions. We also investigated, for the first time in Egypt, the association of FNDC5 rs16835198 G<T polymorphism with T2DM, diabetic nephropathy and irisin levels...
May 4, 2017: Gene
https://www.readbyqxmd.com/read/28476527/hypoxia-and-renal-cell-carcinoma-the-influence-of-hif1a-1772c-t-functional-genetic-polymorphism-on-prognosis
#16
Marta Ferreira, Ana Teixeira, Joaquina Maurício, Francisco Lobo, António Morais, Rui Medeiros
OBJECTIVES: Hypoxia-inducible factor (HIF-1) is a key regulator of the genes involved in the cellular response to hypoxia. Overexpression of HIF-1 has been implicated in the pathogenesis of renal cell carcinoma (RCC), and functional polymorphisms of the HIF1A gene may confer susceptibility to RCC. Our purpose was to assess the influence of HIF1A+1772C/T (rs11549465) polymorphism on RCC prognosis. MATERIAL AND METHODS: This study evaluated the associations of the HIF1A+1772C/T (rs11549465) polymorphism with clinicopathologic prognostic factors, recurrence/progression, and survival in a cohort of 179 patients with RCC treated at Portuguese Oncology Institute of Porto...
May 2, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28471482/vascular-endothelial-growth-factor-a-gene-polymorphism-is-associated-with-congenital-renal-lesions-in-children-with-urinary-tract-infections
#17
Eirini Bimpaki, Maria Bitsori, Christiana Choulaki, Emmanouil Galanakis
AIM: This study investigated the relationship between vascular endothelial growth factor-A (VEGF-A)-460C/T functional gene polymorphism and renal parenchymal lesions, vesicoureteral reflux and other urinary tract abnormalities in children with a urinary tract infection (UTI). METHODS: VEGF-A-460C/T gene polymorphism was investigated with restriction length polymorphism analysis in 76 children with their first UTI and in 63 controls without infections. Genotype and allele frequencies were compared between children with UTIs and controls and between different groups with UTIs...
May 4, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28461764/abcg2-polymorphisms-in-gout-insights-into-disease-susceptibility-and-treatment-approaches
#18
REVIEW
M C Cleophas, L A Joosten, L K Stamp, N Dalbeth, O M Woodward, Tony R Merriman
As a result of the association of a common polymorphism (rs2231142, Q141K) in the ATP-binding cassette G2 (ABCG2) transporter with serum urate concentration in a genome-wide association study, it was revealed that ABCG2 is an important uric acid transporter. This review discusses the relevance of ABCG2 polymorphisms in gout, possible etiological mechanisms, and treatment approaches. The 141K ABCG2 urate-increasing variant causes instability in the nucleotide-binding domain, leading to decreased surface expression and function...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28454375/a-comprehensive-analysis-of-cancer-driving-mutations-and-genes-in-kidney-cancer
#19
Chengmei Long, Jinbo Jian, Xinchang Li, Gongxian Wang, Jingen Wang
An accumulation of driver mutations is important for cancer formation and progression, and leads to the disruption of genes and signaling pathways. The identification of driver mutations and genes has been the subject of numerous previous studies. The present study was performed to identify cancer-driving mutations and genes in renal cell carcinoma (RCC), prioritizing noncoding variants with a high functional impact, in order to analyze the most informative features. Sorting Intolerant From Tolerant (SIFT), Polymorphism Phenotyping version 2 (Polyphen2) and MutationAssessor were applied to predict deleterious mutations in the coding genome...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28435308/association-of-the-ppp3ca-c-249g-a-variant-with-clinical-outcomes-of-tacrolimus-based-therapy-in-kidney-transplant-recipients
#20
Patricia C Salgado, Fabiana Dv Genvigir, Claudia R Felipe, Helio Tedesco-Silva, Jose O Medina-Pestana, Sonia Q Doi, Mario H Hirata, Rosario Dc Hirata
BACKGROUND: The effects of genetic variants related to the pharmacodynamic mechanisms of immunosuppressive drugs on their therapeutic efficacy and safety have been poorly explored. This study was performed to investigate the influence of the PPP3CA c.249G>A variant on the clinical outcomes of kidney transplant recipients. PATIENTS AND METHODS: A total of 148 Brazilian patients received tacrolimus (TAC)-based immunosuppressive therapy for 90 days post-kidney transplantation...
2017: Pharmacogenomics and Personalized Medicine
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