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SLC2A9

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https://www.readbyqxmd.com/read/27540517/microrna-based-linkage-between-aging-and-cancer-from-epigenetics-view-point
#1
REVIEW
Saeid Saeidimehr, Ammar Ebrahimi, Najmaldin Saki, Parisa Goodarzi, Fakher Rahim
Ageing is a complex process and a broad spectrum of physical, psychological, and social changes over time. Accompanying diseases and disabilities, which can interfere with cancer treatment and recovery, occur in old ages. MicroRNAs (miRNAs) are a set of small non-coding RNAs, which have considerable roles in post-transcriptional regulation at gene expression level. In this review, we attempted to summarize the current knowledge of miRNAs functions in ageing, with mainly focuses on malignancies and all underlying genetic, molecular and epigenetics mechanisms...
July 2016: Cell Journal
https://www.readbyqxmd.com/read/27456670/clinical-significance-of-slc2a9-glut9-rs11722228-polymorphisms-in-gout
#2
Esha Das Gupta, Rajalingham Sakthiswary, Shing L Lee, Shew F Wong, Heselynn Hussein, Suk C Gun
AIM: The main objective of this study is to elucidate the clinical significance of the SLC2A9/GLUT9 rs11722228 polymorphism among male gout patients. METHOD: We consecutively recruited all newly diagnosed male gout patients who were treatment-naive from the rheumatology outpatient clinics of two Malaysian hospitals. Age-matched healthy male adults were employed as controls. All subjects were tested for the SLC2A9/GLUT9 rs11722228 genotypes, serum uric acid (SUA), urine uric acid and creatinine levels...
July 26, 2016: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/27328642/serum-uric-acid-levels-were-dynamically-coupled-with-hemoglobin-a1c-in-the-development-of-type-2-diabetes
#3
Fengjiang Wei, Baocheng Chang, Xilin Yang, Yaogang Wang, Liming Chen, Wei-Dong Li
The aim of the study was to decipher the relationship between serum uric acid (SUA) and glycated hemoglobin A1c (HbA1c) or fasting plasma glucose (FPG) in both type 2 diabetes mellitus (T2DM) patients and normal subjects. A total of 2,250 unrelated T2DM patients and 4,420 Han Chinese subjects from a physical examination population were recruited for this study. In T2DM patients SUA levels were negatively correlated with HbA1c (rs = -0.109, P = 0.000) and 2 h plasma glucose levels (rs = -0.178, P = 0...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27324705/hyperuricemia-contributes-to-the-faster-progression-of-diabetic-kidney-disease-in-type-2-diabetes-mellitus
#4
Vendula Bartáková, Katarína Kuricová, Lukáš Pácal, Zuzana Nová, Veronika Dvořáková, Martina Švrčková, Denisa Malúšková, Ivana Svobodová, Jitka Řehořová, Jan Svojanovský, Jindřich Olšovský, Jana Bělobrádková, Kateřina Kaňková
AIMS: The aims of the study were (i) to ascertain prognostic value of serum uric acid (SUA) for diabetic kidney disease (DKD) progression and major adverse cardiovascular event (MACE) in a cohort of T2DM patients, (ii) to ascertain eventual protective effect of allopurinol treatment, (iii) to determine the effect of genetic variability in UA transporters on DKD progression, and (iv) to define optimal cut-off values for SUA in patients with DKD. METHODS: Study comprised 422 subjects with diabetes duration at least 15years followed-up for a median of 43 [IQR 22-77] months...
September 2016: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/27274832/analysis-of-abcg2-and-other-urate-transporters-in-uric-acid-homeostasis-in-chronic-kidney-disease-potential-role-of-remote-sensing-and-signaling
#5
Vibha Bhatnagar, Erin L Richard, Wei Wu, Caroline M Nievergelt, Michael S Lipkowitz, Janina Jeff, Adam X Maihofer, Sanjay K Nigam
BACKGROUND: In the setting of chronic kidney disease (CKD), altered extra-renal urate handling may be necessary to regulate plasma uric acid. The Remote Sensing and Signaling Hypothesis (Nigam S. What do drug transporters really do? Nat Rev Drug Discov 2015; 14: 29-44) suggests that multispecific solute carrier (SLC) and ATP-binding cassette (ABC) drug transporters in different tissues are part of an inter-organ communication system that maintains levels of urate and other metabolites after organ injury...
June 2016: Clinical Kidney Journal
https://www.readbyqxmd.com/read/27255295/association-between-slc2a9-glut9-gene-polymorphisms-and-gout-susceptibility-an-updated-meta-analysis
#6
REVIEW
Xu Zhang, Xiao Yang, Mengmeng Wang, Xiaona Li, Qing Xia, Shengqian Xu, Jianhua Xu, Guoqi Cai, Li Wang, Lihong Xin, Yanfeng Zou, Faming Pan
The relationship between the SLC2A9 (solute carrier family 2, member 9) gene polymorphisms and gout was still inconsistent among the individual genetic association studies. Therefore, this present research was aimed to systematically evaluate the association between SLC2A9 gene polymorphisms and gout susceptibility. Relevant studies were enrolled by searching databases systematically. The pooled odds ratios (ORs) with 95 % confidence intervals (CIs) were used to assess the associations. The heterogeneity between each of the studies was calculated by using the Q statistic methods, and Begg's funnel plot and Egger's tests were performed to evaluate publication bias...
August 2016: Rheumatology International
https://www.readbyqxmd.com/read/27225847/additive-composite-abcg2-slc2a9-and-slc22a12-scores-of-high-risk-alleles-with-alcohol-use-modulate-gout-risk
#7
Hung-Pin Tu, Chia-Min Chung, Albert Min-Shan Ko, Su-Shin Lee, Han-Ming Lai, Chien-Hung Lee, Chung-Ming Huang, Chiu-Shong Liu, Ying-Chin Ko
The aim of the present study was to evaluate the contribution of urate transporter genes and alcohol use to the risk of gout/tophi. Eight variants of ABCG2, SLC2A9, SLC22A12, SLC22A11 and SLC17A3 were genotyped in male individuals in a case-control study with 157 gout (33% tophi), 106 asymptomatic hyperuricaemia and 295 control subjects from Taiwan. The multilocus profiles of the genetic risk scores for urate gene variants were used to evaluate the risk of asymptomatic hyperuricaemia, gout and tophi. ABCG2 Q141K (T), SLC2A9 rs1014290 (A) and SLC22A12 rs475688 (C) under an additive model and alcohol use independently predicted the risk of gout (respective odds ratio for each factor=2...
September 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27126235/biological-findings-from-the-phewas-catalog-focus-on-connective-tissue-related-disorders-pelvic-floor-dysfunction-abdominal-hernia-varicose-veins-and-hemorrhoids
#8
Lyubov E Salnikova, Maryam B Khadzhieva, Dmitry S Kolobkov
Pelvic floor dysfunction, specifically genital prolapse (GP) and stress urinary inconsistency (SUI) presumably co-occur with other connective tissue disorders such as hernia, hemorrhoids, and varicose veins. Observations on non-random coexistence of these disorders have never been summarized in a meta-analysis. The performed meta-analysis demonstrated that varicose veins and hernia are associated with GP. Disease connections on the molecular level may be partially based on shared genetic susceptibility. A unique opportunity to estimate shared genetic susceptibility to disorders is provided by a PheWAS (phenome-wide association study) designed to utilize GWAS data concurrently to many phenotypes...
July 2016: Human Genetics
https://www.readbyqxmd.com/read/27119840/-role-of-slc2a9-and-abcg2-gene-polymorphisms-in-origin-of-hyperuricemia-and-gout
#9
A Fadieieva, L Prystupa, O Pogorelova, N Kirichenko, I Dudchenko
The polymorphisms V253I, Q126X, Q141K of SLC2A9 and ABCG2 genes were characterized. GCA и GTC haplotypes of Q126X and Q141K variants can be predictors of gout. The relationship of these polymorphisms with hyperuricaemia according to gender, metabolic syndrome components, with the response to allopurinol was analyzed. It has been established that Q141K polymorphism can directly modulate BCRP-mediated allopurinol and oxypurinol efflux, the K allele is associated with a lower reduction in serum uric acid in response to allopurinol treatment...
March 2016: Georgian Medical News
https://www.readbyqxmd.com/read/27116386/a-novel-homozygous-slc2a9-mutation-associated-with-renal-induced-hypouricemia
#10
Martin Windpessl, Marco Ritelli, Manfred Wallner, Marina Colombi
BACKGROUND: Hereditary renal hypouricemia (RHUC) is a genetically heterogenous disorder characterized by defective uric acid (UA) reabsorption resulting in hypouricemia and increased fractional excretion of UA; acute kidney injury (AKI) and nephrolithiasis are recognized complications. Type 1 (RHUC1) is caused by mutations in the SLC22A12 gene, whereas RHUC2 is caused by mutations in the SLC2A9 gene. Patient ethnicity is diverse but only few Caucasian families with an SLC2A9 mutation have been reported...
April 27, 2016: American Journal of Nephrology
https://www.readbyqxmd.com/read/27103454/research-progress-in-the-genetics-of-hyperuricaemia-and-gout
#11
REVIEW
Zheng Min, Ma Junwu
Gout is one of the most common inflammatory arthritis caused by hyperuricaemia, which is affected by both genetic factors and environmental factors. Early researches show that a few of rare monogenic mutations, such as PRPS1 and HPRT1 mutations, lead to abnormal purine anabolism and then cause hyperuricaemia and gout. In recent years, genome-wide association studies (GWAS) have identified dozens of susceptibility loci and/or candidate genes associated with hyperuricemia and gout. Loss-of-function mutations in SLC2A9, SLC22A11, and SLC22A12 cause hereditary hypouricaemia, while their overexpression may increase the reabsorption of uric acid...
April 2016: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/27052299/associations-between-slc2a9-polymorphisms-and-gout-susceptibility-a%C3%A2-meta-analysis
#12
Y H Lee, Y H Seo, J-H Kim, S J Choi, J D Ji, G G Song
OBJECTIVE: The aim of this study was to determine whether polymorphisms in solute carrier family 2 and facilitated glucose transporter member 9 (SLC2A9) are associated with susceptibility to gout. METHODS: A meta-analysis was conducted on associations between the rs12510549, rs16890979, and rs1014290 polymorphisms of SLC2A9 and gout susceptibility using fixed and random effects models. RESULTS: Eleven comparative studies comprising 1,472 patients and 3,269 controls from Caucasian and Asian populations were included in this meta-analysis...
April 6, 2016: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/26993665/association-between-serum-uric-acid-related-genetic-loci-and-diabetic-kidney-disease-in-the-chinese-type-2-diabetes-patients
#13
Dandan Yan, Jie Wang, Feng Jiang, Rong Zhang, Xue Sun, Tao Wang, Shiyun Wang, Danfeng Peng, Zhen He, Yuqian Bao, Cheng Hu, Weiping Jia
AIM: We aimed to investigate the association between uric acid related genetic loci and DKD susceptibility in type 2 diabetes patients. METHODS: Seventeen single nucleotide polymorphisms (SNPs) from thirteen loci related to serum uric acid were genotyped in 2,892 type 2 diabetes patients. Associations between SNPs and uric acid, SNPs and quantitative traits related to DKD or its susceptibility were evaluated. RESULTS: In this study, uric acid showed a strong association with DKD (OR=1...
July 2016: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/26935049/stimulation-of-v1a-receptor-increases-renal-uric-acid-clearance-via-urate-transporters-insight-into-pathogenesis-of-hypouricemia-in-siadh
#14
Kei Taniguchi, Yoshifuru Tamura, Takanori Kumagai, Shigeru Shibata, Shunya Uchida
BACKGROUND: Hypouricemia is pathognomonic in syndrome of inappropriate secretion of antidiuretic hormone (SIADH) but the underlying mechanism remains unclear. Based on the previous studies, we hypothesized that V1a receptor may play a principal role in inducing hypouricemia in SIADH and examined uric acid metabolism using a rat model. METHODS: Terlipressin (25 ng/h), a selective V1a agonist, was subcutaneously infused to 7-week-old male Wistar rats (n = 9). Control rats were infused with normal saline (n = 9)...
December 2016: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/26902266/genome-wide-association-study-of-uric-acid-in-indian-population-and-interaction-of-identified-variants-with-type-2-diabetes
#15
Anil K Giri, Priyanka Banerjee, Shraddha Chakraborty, Yasmeen Kauser, Aditya Undru, Suki Roy, Vaisak Parekatt, Saurabh Ghosh, Nikhil Tandon, Dwaipayan Bharadwaj
Abnormal level of Serum Uric Acid (SUA) is an important marker and risk factor for complex diseases including Type 2 Diabetes. Since genetic determinant of uric acid in Indians is totally unexplored, we tried to identify common variants associated with SUA in Indians using Genome Wide Association Study (GWAS). Association of five known variants in SLC2A9 and SLC22A11 genes with SUA level in 4,834 normoglycemics (1,109 in discovery and 3,725 in validation phase) was revealed with different effect size in Indians compared to other major ethnic population of the world...
2016: Scientific Reports
https://www.readbyqxmd.com/read/26634513/quantitative-candidate-gene-association-studies-of-metabolic-traits-in-han-chinese-type-2-diabetes-patients
#16
F J Wei, C Y Cai, P Yu, J Lv, C Ling, W T Shi, H X Jiao, B C Chang, F H Yang, Y Tian, M S Li, Y H Wang, L Zou, J M Shi, L M Chen, W D Li
Recent genome-wide association studies have identified many loci associated with type 2 diabetes mellitus (T2DM), hyperuricemia, and obesity in various ethnic populations. However, quantitative traits have been less well investigated in Han Chinese T2DM populations. We investigated the association between candidate gene single nucleotide polymorphisms (SNPs) and metabolic syndrome-related quantitative traits in Han Chinese T2DM subjects. Unrelated Han Chinese T2DM patients (1975) were recruited. Eighty-six SNPs were genotyped and tested for association with quantitative traits including lipid profiles, blood pressure, body mass index (BMI), serum uric acid (SUA), glycated hemoglobin (HbA1c), plasma glucose [fasting plasma glucose (FPG)], plasma glucose 120 min post-OGTT (P2PG; OGTT = oral glucose tolerance test), and insulin resistance-related traits...
2015: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/26552468/genetic-analysis-of-abcg2-and-slc2a9-gene-polymorphisms-in-gouty-arthritis-in-a-korean-population
#17
Yun Sung Kim, Yunsuek Kim, Geon Park, Seong-Kyu Kim, Jung-Yoon Choe, Byung Lae Park, Hyun Sook Kim
BACKGROUND/AIMS: Gout is a common inf lammatory arthritis triggered by the crystallization of uric acid in the joints. Serum uric acid levels are highly heritable, suggesting a strong genetic component. Independent studies to confirm the genetic associations with gout in various ethnic populations are warranted. We investigated the association of polymorphisms in the ABCG2 and SLC2A9 genes with gout in Korean patients and healthy individuals. METHODS: We consecutively enrolled 109 patients with gout and 102 healthy controls...
November 2015: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/26538670/primary-portal-vein-hypoplasia-and-slc2a9-mutation-associated-with-urate-urolithiasis-in-a-spanish-water-dog
#18
Laura Cosgrove, Gawain Hammond, Gerard Mclauchlan
This report describes a Spanish water dog with an ammonium urate urethrolith which was diagnosed with primary portal vein hypoplasia and was found to be homozygous for the mutated SLC2A9 gene. This is the first Spanish water dog described with the SLC2A9 mutation and the first case of concurrent portal vascular abnormalities and SLC2A9 mutation.
November 2015: Canadian Veterinary Journal. la Revue Vétérinaire Canadienne
https://www.readbyqxmd.com/read/26528330/association-of-slc2a9-genotype-with-phenotypic-variability-of-serum-urate-in-pre-menopausal-women
#19
Ruth K Topless, Tanya J Flynn, Murray Cadzow, Lisa K Stamp, Nicola Dalbeth, Michael A Black, Tony R Merriman
The SLC2A9 gene, that encodes a renal uric acid reuptake transporter, has genetic variants that explain ∼3% of variance in urate levels. There are previous reports of non-additive interaction between SLC2A9 genotype and environmental factors which influence urate control. Therefore, our aim was to further investigate the general phenomenon that such non-additive interactions contribute to genotype-specific association with variance at SLC2A9. Data from 14135 European individuals were used in this analysis...
2015: Frontiers in Genetics
https://www.readbyqxmd.com/read/26418379/hereditary-renal-hypouricemia-type-1-and-autosomal-dominant-polycystic-kidney-disease
#20
Blanka Stiburkova, Jitka Stekrova, Makiko Nakamura, Kimiyoshi Ichida
BACKGROUND: Renal hypouricemia (RHUC) is a heterogeneous inherited disorder characterized by impaired tubular uric acid (UA) transport with severe complications, such as acute kidney injury. Type 1 is caused by a mutation in the SLC22A12 gene (URAT1) and type 2 in the SLC2A9 gene (GLUT9). In this article, the authors present a coexpression functional characterization of variants responsible for RHUC type 1 in a Czech family with polycystic kidney disease (PKD). METHODS: The serum UA concentration in the proband was 1...
October 2015: American Journal of the Medical Sciences
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