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Polymorphism and renal function

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https://www.readbyqxmd.com/read/29136713/-the-associations-between-adenosine-triphosphate-binding-cassette-subfamily-g-member-2-single-nucleotide-polymorphism-and-hyperuricemia-in-a-chinese-tertiary-hospital-faculty-cohort
#1
B Q Zhang, W G Fang, Y Zhang, S F Liu, X J Zeng
Objective: To investigate gender specific association between single nucleotide polymorphism rs2231142 and hyperuricemia. Method: A matched case-control study was conducted in a faculty cohort of a tertiary hospital in Beijing. The enrollment criteria were faculty member of the hospital with signed consent. The exclusion criteria were tumor, previous renal diseases, renal function damage, pregnancy, currently taking medicines that could increase or decrease serum uric acid level, and those who had gout. Males with serum uric acid>416...
November 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29113387/tacrolimus-dose-requirement-based-on-the-cyp3a5-genotype-in-renal-transplant-patients
#2
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...
October 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/29113352/genetic-polymorphisms-in-cyclin-d1-are-associated-with-risk-of-renal-cell-cancer-in-the-chinese-population
#3
Jianxin Xue, Zhiqiang Qin, Xiao Li, Jianzhong Zhang, Yuxiao Zheng, Weizhang Xu, Qiang Cao, Zengjun Wang
Recently, the functional polymorphisms in Cyclin D1 (CCND1) have been shown the potential influence to risk of renal cell cancer (RCC). Therefore, the present study was performed to investigate whether these polymorphisms could influence the susceptibility of RCC. Four potentially functional polymorphisms in CCND1 (rs1944129, rs7177, rs9344 and rs678653) were genotyped in this hospital-based case-control study, comprising of 1,488 RCC patients and 1,677 cancer-free controls in a Chinese population by the TaqMan assay...
October 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/29101067/foxp3-rs3761549-polymorphism-predicts-long-term-renal-allograft-function-in-patients-receiving-cyclosporine-based-immunosuppressive-regimen
#4
Qin-Xia Xu, Xiao-Yan Qiu, Zheng Jiao, Ming Zhang, Ming-Kang Zhong
AIM: The present study was conducted to determine the effect of FOXP3 single nucleotide polymorphisms (SNPs) on clinical outcomes in CsA-treated renal transplant patients. METHODS: A total of 166 renal transplant patients with at least 5years of follow-up were included. SNPs of FOXP3 gene (rs3761547, rs3761548, rs3761549, rs2232365 and rs2280883) were detected by Taqman probe technique. The associations of SNPs with acute rejection, CsA-induced nephrotoxicity, pneumonia and post-transplantation estimated glomerular filtration rate (eGFR) were explored...
October 31, 2017: Gene
https://www.readbyqxmd.com/read/29098099/life-threatening-irinotecan-induced-toxicity-in-an-adult-patient-with-alveolar-rhabdomyosarcoma-the-role-of-a-ugt1a1-polymorphism
#5
Arnaud Jannin, Benjamin Hennart, Antoine Adenis, Bruno Chauffert, Nicolas Penel
Alveolar rhabdomyosarcoma (AR) in adult patients is an exceptional malignancy. Management of AR is based on (neo)adjuvant chemotherapy combining ifosfamide, vincristine, and actinomycin D and local curative-intent surgery/radiotherapy. In cases of relapsing AR, the combination of temozolomide/irinotecan is regarded as a possible option. Here we describe life-threatening long-lasting toxicity related to the 1st cycle of irinotecan-based chemotherapy in a 56-year-old woman suffering from locally advanced and metastatic head and neck AR...
2017: Case Reports in Oncological Medicine
https://www.readbyqxmd.com/read/29093029/chromatin-conformation-links-distal-target-genes-to-ckd-loci
#6
Maarten M Brandt, Claartje A Meddens, Laura Louzao-Martinez, Noortje A M van den Dungen, Nico R Lansu, Edward E S Nieuwenhuis, Dirk J Duncker, Marianne C Verhaar, Jaap A Joles, Michal Mokry, Caroline Cheng
Genome-wide association studies (GWASs) have identified many genetic risk factors for CKD. However, linking common variants to genes that are causal for CKD etiology remains challenging. By adapting self-transcribing active regulatory region sequencing, we evaluated the effect of genetic variation on DNA regulatory elements (DREs). Variants in linkage with the CKD-associated single-nucleotide polymorphism rs11959928 were shown to affect DRE function, illustrating that genes regulated by DREs colocalizing with CKD-associated variation can be dysregulated and therefore, considered as CKD candidate genes...
November 1, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29061086/pharmacogenetics-based-population-pharmacokinetic-analysis-of-tenofovir-in-thai-hiv-infected-patients
#7
Kanokrat Rungtivasuwan, Anchalee Avihingsanon, Narukjaporn Thammajaruk, Siwaporn Mitruk, David M Burger, Kiat Ruxrungtham, Chonlaphat Sukasem, Baralee Punyawudho
AIM: To develop a population pharmacokinetic model and identify sources of variability, genetic and nongenetic factors, of tenofovir. METHODS: The ABCC2 and ABCC4 polymorphisms were genotyped in 342 patients. A nonlinear mixed effects model was used to develop the population pharmacokinetic model and investigate the influence of these polymorphisms and other patient specific covariates on the pharmacokinetics of tenofovir. RESULTS: The estimated glomerular filtration rate calculated by the Cockcroft and Gault equation, concomitant use of lopinavir/ritonavir and ABCC4 3463A>G polymorphism were associated with tenofovir apparent oral clearance (CL/F)...
October 24, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/29042282/increased-levels-of-circulating-tnf-%C3%AE-is-associated-with-308g-a-promoter-polymorphism-of-tnf-%C3%AE-gene-in-diabetic-nephropathy
#8
Dhamodharan Umapathy, Ezhilarasi Krishnamoorthy, Vairamani Mariappanadar, Vijay Viswanathan, Kunka Mohanram Ramkumar
The crucial role of Tumor Necrosis Factor-α (TNF-α) on renal function in patients with Diabetic Nephropathy (DN) has been well documented. The present study was designed to investigate the association of TNF-α [-308G/A, (rs1800629)] single nucleotide polymorphism (SNP) on the susceptibility to DN subjects and to correlate it with the plasma levels of TNF-α along with circulatory TNF-α receptor super family cytokines (sTNFR-1 and sTNFR-2). A total of 756 subjects, were recruited and divided into groups [Group-I, Control (n=218), Group-II, Normoalbuminuria (n=196), Group-IIIa, Microalbuminuria (n=178), Group-IIIb, Macroalbuminuria (n=164)] and were genotyped by PCR-restriction fragment length polymorphism (RFLP)...
October 16, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29036458/metabolic-syndrome-induces-over-expression-of-the-human-at1r-a-haplotype-dependent-effect-with-implications-on-cardio-renal-function
#9
Sudhir Jain, Nitin Puri, Anita Rana, Natalie Sirianni, Brahmaraju Mopidevi, Ashok Kumar
Background: The transcriptional regulation of the human AT1R gene in pathophysiologies, like the metabolic syndrome, is poorly understood. The human AT1R gene has polymorphisms in its promoter that can be arranged in two haplotypes. Variants -810T, -713T, -214A, and -153A always occur together (Hap-I) and variants -810A, -713G, -214C, and -153G form Hap-II. We have hypothesized that high fat diet will alter cellular transcriptional milieu and increase hAT1R gene expression in a haplotype-dependent manner...
October 5, 2017: American Journal of Hypertension
https://www.readbyqxmd.com/read/29031829/gain-of-function-variants-in-nlrp1-protect-against-the-development-of-diabetic-kidney-disease-nlrp1-inflammasome-role-in-metabolic-stress-sensing
#10
Jaine L S Soares, Fernanda Pereira Fernandes, Thiago Andrade Patente, Maria B Monteiro, Maria C Parisi, Daniel Giannella-Neto, Maria L Corrêa-Giannella, Alessandra Pontillo
Although inflammasome plays a well-known role in animal models of renal injury, limited studies in humans are available, and its participation in diabetic kidney disease (DKD) remains unknown. Aim of this study was to elucidate the contribution of inflammasome genetics in the development of DKD in type-1 diabetes (T1D). The association of functional variants in inflammasome genes with DKD was assessed by multivariate analysis in a retrospective and in a prospective cohort. NLRP1 rs2670660 and rs11651270 polymorphisms were significantly associated with a decrease risk to develop DKD (padj<0...
October 12, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29029037/functional-variants-in-the-low-density-lipoprotein-receptor-gene-are-associated-with-clear-cell-renal-cell-carcinoma-susceptibility
#11
Gui-Ming Zhang, Meng-Yun Wang, Ya-Nan Liu, Yao Zhu, Fang-Ning Wan, Qing-Yi Wei, Ding-Wei Ye
Recent studies indicate that abnormal levels of low-density lipoprotein (LDL), which is an important component of dyslipidaemia, are associated with alterations to cancer risk, including that of renal cell carcinoma (RCC). Single nucleotide polymorphisms at microRNA-binding sites contribute to cancer susceptibility and progression by affecting the mRNA function of target genes. In this case-control study, we examined the frequency of six potentially functional single nucleotide polymorphisms in the LDL receptor gene (LDLR) in 1004 clear cell RCC (ccRCC) patients and 1065 cancer-free subjects...
September 22, 2017: Carcinogenesis
https://www.readbyqxmd.com/read/29028278/functional-variants-in-intercellular-adhesion-molecule-1-and-toll-like-receptor-4-genes-are-more-frequent-in-children-with-febrile-urinary-tract-infection-with-renal-parenchymal-involvement
#12
Almontaser Hussein, Khaled Saad, Eman Askar, Asmaa M Zahran, Hekma Farghaly, Kotb Metwalley, Ahmad A Elderwy
AIM: We studied the functional polymorphisms of intercellular adhesion molecule-1 (ICAM-1) and toll-like receptor-4 (TLR-4) genes and risk of acute pyelonephritis (APN) in children attending Assiut University Children's Hospitals, Egypt, from 2011 to 2015. METHODS: Urinary tract infections (UTIs) were diagnosed in 380 children: 98 had APN and 282 had lower UTIs. Four single-nucleotide polymorphisms in ICAM-1 and TLR-4 genes were genotyped in all subjects: ICAM-1 rs1799969 Gly241Arg, ICAM-1 rs5498 Glu469Lys, TLR-4 rs4896791 Thr399Ile and TLR-4 rs4896790 Asp299Gly...
October 13, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/29027595/carnosinase-diabetes-mellitus-and-the-potential-relevance-of-carnosinase-deficiency
#13
REVIEW
Verena Peters, Johannes Zschocke, Claus P Schmitt
Carnosinase (CN1) is a dipeptidase, encoded by the CNDP1 gene, that degrades histidine-containing dipeptides, such as carnosine, anserine and homocarnosine. Loss of CN1 function (also called carnosinase deficiency or aminoacyl-histidine dipeptidase deficiency) has been reported in a small number of patients with highly elevated blood carnosine concentrations, denoted carnosinaemia; it is unclear whether the variety of clinical symptoms in these individuals is causally related to carnosinase deficiency. Reduced CN1 function should increase serum carnosine concentrations but the genetic basis of carnosinaemia has not been formally confirmed to be due to CNDP1 mutations...
October 13, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28987961/the-effect-of-genetic-variants-affecting-nk-cell-function-on-cardiovascular-health-and-the-burden-of-cmv
#14
Shelley Waters, Silvia Lee, Jacquita S Affandi, Ashley Irish, Patricia Price
Renal transplant recipients (RTR) display high burdens of cytomegalovirus (CMV) and accelerated cardiovascular change. NK cells can control CMV and may contribute to vascular pathologies. Polymorphisms in genes encoding the inhibitory receptor LILRB1 and its ligand HLA-G, and the activating receptor NKG2C may illuminate the role of NK cells in vascular health and CMV immunity. We assessed 81 healthy adults and 82 RTR >2 years after transplantation. RTR had higher humoral and T-cell responses to CMV, and impaired vascular health...
October 5, 2017: Human Immunology
https://www.readbyqxmd.com/read/28947524/elbasvir-grazoprevir-a-new-direct-acting-antiviral-combination-for-hepatitis-c
#15
REVIEW
Lamis R Karaoui, Hanine Mansour, Elias B Chahine
PURPOSE: The chemistry, pharmacology, pharmacodynamics, pharmacokinetics, efficacy, safety, dosage, administration, and role of elbasvir-grazoprevir in the treatment of hepatitis C virus (HCV) infection are reviewed. SUMMARY: Elbasvir-grazoprevir was recently approved by the Food and Drug Administration for the treatment of chronic HCV genotype 1 or 4 infections with or without ribavirin in patients with or without compensated cirrhosis. Elbasvir exhibits antiviral activity against HCV genotypes 1a, 1b, 2a, 3a, and 4a...
October 1, 2017: American Journal of Health-system Pharmacy: AJHP
https://www.readbyqxmd.com/read/28942034/agxt2-rs37369-polymorphism-predicts-the-renal-function-in-patients-with-chronic-heart-failure
#16
Xiao-Lei Hu, Wen-Jing Zeng, Mu-Peng Li, Yong-Long Yang, Da-Bin Kuang, He Li, Yan-Jiao Zhang, Chun Jiang, Li-Ming Peng, Hong Qi, Ke Zhang, Xiao-Ping Chen
Patients with chronic heart failure (CHF) are often accompanied with varying degrees of renal diseases. The purpose of this study was to identify rs37369 polymorphism of AGXT2 specific to the renal function of CHF patients. A total of 1012 southern Chinese participants, including 487 CHF patients without renal diseases and 525 healthy volunteers, were recruited for this study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to determine the genotypes of AGXT2 rs37369 polymorphism...
September 20, 2017: Gene
https://www.readbyqxmd.com/read/28914853/-uromodulin-gene-polymorphisms-in-patients-with-cast-nephropathy-in-multiple-myeloma
#17
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
#18
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
#19
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
#20
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
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