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Polymorphism and renal function

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https://www.readbyqxmd.com/read/28532626/single-nucleotide-polymorphisms-of-abcc2-modulate-renal-secretion-of-endogenous-organic-anions
#1
Kienana Muhrez, Bérenger Largeau, Patrick Emond, Montigny Frédéric, 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/28433894/a-functional-snp-mcp-1-2518a-g-predispose-to-renal-disorder-in-indian-systemic-lupus-erythematosus-patients
#11
Vinod D Umare, Vandana D Pradhan, Anjali G Rajadhyaksha, Kanjaksha Ghosh, Anita H Nadkarni
Systemic Lupus Erythematosus (SLE) is a clinically heterogeneous chronic, inflammatory autoimmune disorder that affects multiple organs where exact etiology of the disease is not yet clearly understood. Various evidences suggest that genetic polymorphisms in inflammatory mediators like cytokines and chemokines may influence development of the disease. Here, we investigated whether functional polymorphism at the Monocyte Chemoattractant Protein-1 (MCP-1) regulatory region associates with disease phenotype in Indian SLE patients...
April 20, 2017: Cytokine
https://www.readbyqxmd.com/read/28411360/association-between-tlr2-tlr4-and-cd14-gene-polymorphisms-and-acute-rejection-in-kidney-transplant
#12
Razieh Abdolvahabi, Abdolfatah Sarrafnejad, Mohsen Nafar, Davood Jafari, Efat Razaghi, Mahboob Lessan-Pezashki, Mir Saeed Yekaninejad, Ehsan Sharif-Paghaleh, Aliakbar Amirzargar
OBJECTIVES: Toll-like receptors play an important role in innate and adaptive immune responses and can induce acute graft rejection, especially in the early phase after transplant. The aim of this study was to evaluate the possible association between TLR2, TLR4, and CD14 polymorphisms and acute renal rejection. MATERIALS AND METHODS: Our study included 239 patients seen between 2013 and 2015. Patients were classified into 3 groups: acute rejection group (71 patients), stable graft function group (71 patients), and healthy control group (97 patients)...
April 14, 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28410202/identification-of-c21orf59-and-atg2a-as-novel-determinants-of-renal-function-related-traits-in-japanese-by-exome-wide-association-studies
#13
Yoshiji Yamada, Jun Sakuma, Ichiro Takeuchi, Yoshiki Yasukochi, Kimihiko Kato, Mitsutoshi Oguri, Tetsuo Fujimaki, Hideki Horibe, Masaaki Muramatsu, Motoji Sawabe, Yoshinori Fujiwara, Yu Taniguchi, Shuichi Obuchi, Hisashi Kawai, Shoji Shinkai, Seijiro Mori, Tomio Arai, Masashi Tanaka
We have performed exome-wide association studies to identify genetic variants that influence renal function-related traits or confer susceptibility to chronic kidney disease or hyperuricemia in Japanese. Exome-wide association studies for estimated glomerular filtration rate and the serum concentration of creatinine were performed with 12,565 individuals, that for the serum concentration of uric acid with 9934 individuals, and those for chronic kidney disease or hyperuricemia with 5161 individuals (3270 cases, 1891 controls) or 11,686 individuals (2045 cases, 9641 controls), respectively...
March 30, 2017: Oncotarget
https://www.readbyqxmd.com/read/28403670/genetic-variants-in-fh-are-associated-with-renal-histopathologic-subtypes-of-lupus-nephritis-a-large-cohort-study-from-china
#14
M Tan, J-B Hao, H Chu, F-M Wang, D Song, L Zhu, F Yu, Y-Z Li, Y Song, M-H Zhao
Objective Genetic variants in FH (complement factor H) were reported to associate with susceptibility to systemic lupus erythematosus (SLE). This study proposed that the genetic defects of FH in the susceptibility and in the development of lupus nephritis might be different. Methods This study enrolled 334 lupus nephritis patients, 269 SLE patients without clinical renal involvement and 350 controls. Two-step genotyping was performed. First, all the exons of the FH gene were fully sequenced in 100 lupus nephritis patients and 100 healthy controls...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28359253/association-of-il1-beta-gene-polymorphism-and-allograft-functions-in-renal-transplant-recipients-a-case-control-study-from-kashmir-valley
#15
Mohammad Ashraf Bhat, Manzoor Ahmad Parry, Saniya Nissar, Aga Syed Sameer, Imtiyaz A Bhat, Zafar A Shah, Roohi Rasool
BACKGROUND: Cytokines have been found to be the important mediators during renal graft outcome. Therefore, we designed this study to investigate the role of recipients' IL-1 β promoter (-511) and IL-1 β exon-5 (+3954) polymorphisms with the risk of graft outcome. METHODOLOGY: We enrolled one hundred recipients of living-related renal transplants together with the age and sex matched controls from the healthy population not having any renal abnormality for this study...
March 30, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28352015/association-between-angiotensin-converting-enzyme-insertion-deletion-gene-polymorphism-and-end-stage-renal-disease-in-lebanese-patients-with-diabetic-nephropathy
#16
Sarah Fawwaz, Mahmoud Balbaa, Hana Fakhoury, Jamila Borjac, Rajaa Fakhoury
Diabetic nephropathy (DN) is one of the leading causes of end-stage renal disease (ESRD). The development and progression of nephropathy is strongly determined by genetic factors, and few genes have been shown to contribute to DN. An insertion/deletion (I/D) polymorphism of the gene encoding angiotensin-converting enzyme (ACE) was reported as a candidate gene predisposing to DN and ESRD. Accordingly, we investigated the frequency of ACE I/D polymorphism in 50 patients with DN, of whom 33 had ESRD and compared them with 64 patients with type 2 diabetes mellitus (T2DM) but with normal renal function...
March 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28348114/mineralocorticoid-receptor-mutations
#17
Maria-Christina Zennaro, Fabio Luiz Fernandes-Rosa
Aldosterone and the mineralocorticoid receptor (MR) are key elements for maintaining fluid and electrolyte homeostasis as well as regulation of blood pressure. Loss of function mutations of the MR are responsible for renal pseudohypoaldosteronism type 1 (PHA1), a rare disease of mineralocorticoid resistance presenting in the newborn with weight loss, failure to thrive, vomiting and dehydration, associated with hyperkalemia and metabolic acidosis, despite extremely elevated levels of plasma renin and aldosterone...
March 27, 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28344754/role-of-angiotensin-converting-enzyme-and-angiotensinogen-gene-polymorphisms-in-angiotensin-converting-enzyme-inhibitor-mediated-antiproteinuric-action-in-type-2-diabetic-nephropathy-patients
#18
Neerja Aggarwal, Pawan Kumar Kare, Parul Varshney, Om Prakash Kalra, Sri Venkata Madhu, Basu Dev Banerjee, Anil Yadav, Alpana Raizada, Ashok Kumar Tripathi
AIM: To investigate the role of genetic variants of angiotensin converting enzyme (ACE) and angiotensinogen (AGT) genes in the antiproteinuric efficacy of ACE inhibitor therapy in diabetic nephropathy (DN) patients. METHODS: In the present study, 270 type 2 diabetes mellitus patients with nephropathy were enrolled and treated with ACE inhibitor (ramipril) and followed at 6 mo for renal function and albumin excretion by estimating serum creatinine, end stage renal disease, and albumin/creatinine ratio (ACR) in urine...
March 15, 2017: World Journal of Diabetes
https://www.readbyqxmd.com/read/28340819/influence-of-proton-pump-inhibitors-on-mycophenolic-acid-pharmacokinetics-in-patients-with-renal-transplantation-and-the-relationship-with-cytochrome-2c19-gene-polymorphism
#19
H S Ciftci, M S Karadeniz, T Tefik, Y Caliskan, H Yazıcı, E Demir, A Turkmen, I Nane, F S Oguz, F Aydin
BACKGROUND: Most patients have serious digestive complications after renal transplantation. Therefore, it is important to protect gastrointestinal function to improve the survival rate of transplant patients. Proton pump inhibitors (PPIs) such as lansoprazole and rabeprazole are widely administered to renal transplant patients with mycophenolic acid (MPA) in the perioperative period. PPIs are metabolized by cytochrome (CYP) 2C19 enzymes. Mycophenolate sodium (MYF) and mycophenolate mofetil (MMF) have been used in immunosuppression...
April 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28340804/preliminary-screening-results-of-fabry-disease-in-kidney-transplantation-patients-a-single-center-study
#20
M Yılmaz, S K Uçar, G Aşçı, E Canda, F A Tan, C Hoşcoşkun, M Çoker, H Töz
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of alfa-galactosidase A (AGALA) and leads to progressive impairment of renal function in almost all male patients and in a significant proportion of female patients. FD is underdiagnosed or even misdiagnosed in patients undergoing kidney transplantation. We initiated a selective screening study for FD among kidney transplant patients in our center. In this study, 1095 male and female patients were included. Dried blood samples on Guthrie papers were used to analyze galactosidase A enzyme for male patients...
April 2017: Transplantation Proceedings
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