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Polymorphism and renal function

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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
#1
Safaa I Tayel, Eman Am Fouda, Elsayed I Elshayeb, Asmaa Ra 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 2h postprandial blood sugar (2h PBG), HBA1c, lipid profile and renal function tests...
January 11, 2018: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29250163/mir-502-mediated-histone-methyltransferase-set8-expression-is-associated-with-clear-cell-renal-cell-carcinoma-risk
#2
Shenglei Zhang, Zhanjun Guo, Jinsheng Xu, Jing Wang, Junxia Zhang, Liwen Cui, Huiran Zhang, Yueping Liu, Yaling Bai
Genetic variants may affect the interactions between microRNAs (miRNAs/miRs) and their target genes by modulating their binding affinity or by creating, or destroying a miRNA-binding site. SET domain containing (lysine methyltransferase) 8 (SET8) is the sole lysine methyltransferase that catalyzes the monomethylation of histone H4 lysine 20, and is associated with tumor growth, invasion and metastasis. In the present study, the rs16917496 polymorphism within the miR-502 binding site of the SET8 mRNA 3' untranslated region (3'UTR) in patients with clear cell renal cell carcinoma (ccRCC) and healthy controls was genotyped...
December 2017: Oncology Letters
https://www.readbyqxmd.com/read/29227971/association-of-1082a-g-polymorphism-in-the-interleukin-10-gene-with-estimated-glomerular-filtration-rate-in-type-2-diabetes
#3
Evelise Regina Polina, Bruna Letícia da Silva Pereira, Daisy Crispim, Renan Cesar Sbruzzi, Luis Henrique Canani, Kátia Gonçalves Dos Santos
BACKGROUND/AIMS: The -1082A>G polymorphism (rs1800896) in the interleukin-10 (IL10) gene has been associated with type 2 diabetes and diabetic retinopathy, but its relationship with diabetic kidney disease (DKD) is uncertain. The aim of this case-control study was to investigate whether the -1082A>G polymorphism is associated with DKD in white Brazilians with type 2 diabetes mellitus. METHODS: Genotyping was done by real-time polymerase chain reaction for 597 type 2 diabetic outpatients...
December 8, 2017: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29212248/impact-of-complement-component-3-4-5-single-nucleotide-polymorphisms-on-renal-transplant-recipients-with-antibody-mediated-rejection
#4
Zijie Wang, Haiwei Yang, Miao Guo, Zhijian Han, Jun Tao, Hao Chen, Yuqiu Ge, Ke Wang, Ruoyun Tan, Ji-Fu Wei, Min Gu
Antibody-mediated rejection (ABMR) is an important risk of allograft dysfunction in kidney transplantation. The complement system is considered to be associated with the generation of alloreative antibodies and donor-specific antibodies. However, the association of complement single nucleotide polymorphisms (SNPs) with ABMR still remained unclear. Blood samples of 199 renal transplant recipients containing 68 with ABMR and 131 with stable graft function were collected, and analyzed by next-generation sequencing with an established gene panel...
November 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/29204904/the-functionality-of-african-specific-variants-in-the-tgfb1-regulatory-region-and-their-potential-role-in-hivan
#5
M Nel, J-M Buys, F C J Botha, N Wearne, S Prince, J M Heckmann
BACKGROUND: Transcription of transforming growth factor beta-1 (TGF-β1) is regulated by a polymorphic promoter region containing African-specific single nucleotide polymorphisms (SNPs). Some of these SNPs have higher frequencies among Southern Africans compared to other African populations and their functionality has only been partially studied. Due to the high prevalence of HIV-associated nephropathy (HIVAN) in Africans we hypothesized that functional African TGFB1-promoter SNPs may contribute to HIVAN pathogenesis...
December 4, 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/29197384/involvement-of-the-bone-morphogenic-protein-smad-signaling-pathway-in-the-etiology-of-congenital-anomalies-of-the-kidney-and-urinary-tract-accompanied-by-cryptorchidism
#6
Kentaro Mizuno, Akihiro Nakane, Hidenori Nishio, Yoshinobu Moritoki, Hideyuki Kamisawa, Satoshi Kurokawa, Taiki Kato, Ryosuke Ando, Tetsuji Maruyama, Takahiro Yasui, Yutaro Hayashi
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT), such as renal dysplasia, hydronephrosis, or vesicoureteral reflux, are the most common causes of end-stage renal disease. However, the genetic etiology of CAKUT remains unclear. In this study, we performed whole exome sequencing (WES) to elucidate the genetic etiology of symptomatic CAKUT and CAKUT accompanied by cryptorchidism. METHODS: Three patients with unilateral renal dysplasia accompanied by ipsilateral cryptorchidism were included in this analysis...
December 2, 2017: BMC Urology
https://www.readbyqxmd.com/read/29189941/vortioxetine-clinical-pharmacokinetics-and-drug-interactions
#7
REVIEW
Grace Chen, Astrid-Maria Højer, Johan Areberg, George Nomikos
Vortioxetine is a novel antidepressant with multimodal activity currently approved for the treatment of major depressive disorder. Vortioxetine is orally administered once daily at 5- to 20-mg doses. The pharmacokinetics of vortioxetine are linear and dose proportional, with a mean terminal half-life of approximately 66 h and steady-state plasma concentrations generally achieved within 2 weeks of dosing. The mean absolute oral bioavailability of vortioxetine is 75%. No food effect on pharmacokinetics was observed...
November 30, 2017: Clinical Pharmacokinetics
https://www.readbyqxmd.com/read/29179855/analysis-of-the-influence-of-the-t393c-polymorphism-of-the-gnas-gene-on-the-clinical-expression-of-primary-hyperparathyroidism
#8
María Piedra, Ana Berja, Laura Ramos, María Teresa García-Unzueta, Jesús Manuel Morán, David Ruiz, José Antonio Amado
BACKGROUND: The receptor of parathyroid hormone and parathyroid hormone-related-protein (PTH/PTHrp) is located in the cell membrane of target tissues - kidney and osteoblasts. It is a G protein-coupled-receptor whose Gsα subunit is encoded by the GNAS gene. Our aim was to study whether the single nucleotide polymorphism (SNP) T393C of the GNAS gene is associated with renal stones, bone mineral density (BMD), or bone remodelling markers in primary hyperparathyroidism (PHPT). METHODS: An analysis was made of clinical and biochemical parameters and densitometric values in three areas and their relationship with the T393C SNP of the GNAS gene in 261 patients with primary hyperparathyroidism and in 328 healthy controls...
December 2017: Endocrinología, Diabetes y Nutrición
https://www.readbyqxmd.com/read/29158353/blood-pressure-control-by-a-secreted-fgfbp1-fibroblast-growth-factor-binding-protein
#9
Elena Tassi, En Yin Lai, Lingli Li, Glenn Solis, Yifan Chen, William E Kietzman, Patricio E Ray, Anna T Riegel, William J Welch, Christopher S Wilcox, Anton Wellstein
Fibroblast growth factors (FGFs) participate in organ development and tissue maintenance, as well as the control of vascular function. The paracrine-acting FGFs are stored in the extracellular matrix, and their release is controlled by a secreted FGF-binding protein (FGF-BP, FGFBP1, and BP1) that modulates FGF receptor signaling. A genetic polymorphism in the human FGFBP1 gene was associated with higher gene expression and an increased risk of familial hypertension. Here, we report on the effects of inducible BP1 expression in a transgenic mouse model...
November 20, 2017: Hypertension
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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