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Polymorphism and renal function

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...
March 7, 2018: Gene
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
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
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 metabolising 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 non-linear mixed effect modelling (NONMEM™) program...
February 19, 2018: British Journal of Clinical Pharmacology
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
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
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
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
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
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...
2017: Kidney & Blood Pressure Research
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
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
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
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
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 Gs α 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
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...
January 2018: Hypertension
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]
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
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
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
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