Dataset Information

Rs10887800 renalase gene polymorphism influences the level of circulating renalase in patients undergoing hemodialysis but not in healthy controls.

ABSTRACT: Human renalase (RNLS), a recently identified flavoprotein with oxidoreductase activity, is secreted into blood by kidneys and metabolizes circulating catecholamines. Recent studies have revealed that common polymorphisms in RNLS gene might affect the risk of several cardiovascular conditions in hemodialyzed patients. However, the exact mechanism underlying this link remains unclear. The study aims to investigate the association between RNLS gene polymorphisms and plasma renalase level in ESKD patients undergoing hemodialysis (HD group) and healthy controls (HC).A total of 309 hemodialyzed patients and 90 controls were enrolled in the study. All the participants were genotyped for two RNLS SNPs (rs2576178 and rs10887800) using PCR-RFLP method. Plasma renalase concentrations were determined by enzyme-linked immunosorbent assay (USCN Life Science Inc., Wuhan, China). The IBM SPSS Statistics for Windows, version 20 (IBM Corp., Armonk, NY, USA) was used for statistical analyses.Genotype distribution and allele frequencies of studied SNPs did not differ between two analyzed groups, p?>?.050. RNLS concentration in HD group (33.54 ?g/mL) was significantly higher than in HC (13.16 ?g/mL), p??.050. Interestingly, in HC group rs10887800 polymorphism did not influence RNLS concentration. Rs2576178 SNP did not affect the level of plasma RNLS either in HD group or in HC.Rs10887800 polymorphic variant of RNLS gene influences the level of circulating RNLS in patients undergoing hemodialysis, and thus elucidates the potentially functional relevance of this polymorphism in HD population.

SUBMITTER: Stec A

PROVIDER: S-EPMC5379720 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Rs10887800 renalase gene polymorphism influences the level of circulating renalase in patients undergoing hemodialysis but not in healthy controls.

Stec Anna A

BMC nephrology 20170403 1

<h4>Background</h4>Human renalase (RNLS), a recently identified flavoprotein with oxidoreductase activity, is secreted into blood by kidneys and metabolizes circulating catecholamines. Recent studies have revealed that common polymorphisms in RNLS gene might affect the risk of several cardiovascular conditions in hemodialyzed patients. However, the exact mechanism underlying this link remains unclear. The study aims to investigate the association between RNLS gene polymorphisms and plasma renala ...[more]

PMID: 28372594

Similar Datasets

Project description:BackgroundReduced adiponectin is implicated in the pathogenesis of nonalcoholic fatty liver disease (NAFLD) and steatohepatitis (NASH), and the I148M Patatin-like phospholipase domain-containing 3 (PNPLA3) polymorphism predisposes to NAFLD and liver damage progression in NASH and chronic hepatitis C (CHC) by still undefined mechanisms, possibly involving regulation of adipose tissue function. Aim of this study was to evaluate whether the I148M PNPLA3 polymorphism influences serum adiponectin in liver diseases and healthy controls.MethodsTo this end, we considered 144 consecutive Italian patients with NAFLD, 261 with CHC, 35 severely obese subjects, and 257 healthy controls with very low probability of steatosis, all with complete clinical and genetic characterization, including adiponectin (ADIPOQ) genotype. PNPLA3 rs738409 (I148M) and ADIPOQ genotypes were evaluated by Taqman assays, serum adiponectin by ELISA. Adiponectin mRNA levels were evaluated by quantitative real-time PCR in the visceral adipose tissue (VAT) of 35 obese subjects undergoing bariatric surgery.ResultsAdiponectin levels were independently associated with the risk of NAFLD and with the histological severity of the disease. Adiponectin levels decreased with the number of 148 M PNPLA3 alleles at risk of NASH both in patients with NAFLD (p = 0.03), and in healthy subjects (p = 0.04). At multivariate analysis, PNPLA3 148 M alleles were associated with low adiponectin levels (<6 mg/ml, median value) independently of NAFLD diagnosis, age, gender, BMI, and ADIPOQ genotype (OR 1.67, 95% c.i. 1.07-2.1 for each 148 M allele). The p.148 M PNPLA3 variant was associated with decreased adiponectin mRNA levels in the VAT of obese patients (p < 0.05) even in the absence of NASH. In contrast, in CHC, characterized by adiponectin resistance, low adiponectin was associated with male gender and steatosis, but not with PNPLA3 and ADIPOQ genotypes and viral features.ConclusionsThe I148M PNPLA3 variant is associated with adiponectin levels in patients with NAFLD and in healthy subjects, but in the presence of adiponectin resistance not in CHC patients. The I148M PNPLA3 genotype may represent a genetic determinant of serum adiponectin levels. Modulation of serum adiponectin might be involved in mediating the susceptibility to steatosis, NASH, and hepatocellular carcinoma in carriers of the 148 M PNPLA3 variant without CHC, with potential therapeutic implications.

Project description:BACKGROUND: Aim of this study was to evaluate whether the A736V TMPRSS6 polymorphism, a major genetic determinant of iron metabolism in healthy subjects, influences serum levels of hepcidin, the hormone regulating iron metabolism, and erythropoiesis in chronic hemodialysis (CHD). METHODS: To this end, we considered 199 CHD patients from Northern Italy (157 with hepcidin evaluation), and 188 healthy controls without iron deficiency, matched for age and gender. Genetic polymorphisms were evaluated by allele specific polymerase chain reaction assays, and hepcidin quantified by mass spectrometry. RESULTS: Serum hepcidin levels were not different between the whole CHD population and controls (median 7.1, interquartile range (IQR) 0.55-17.1 vs. 7.4, 4.5-17.9 nM, respectively), but were higher in the CHD subgroup after exclusion of subjects with relative iron deficiency (p?=?0.04). In CHD patients, the A736V TMPRSS6 polymorphism influenced serum hepcidin levels in individuals positive for mutations in the HFE gene of hereditary hemochromatosis (p?<?0.0001). In particular, the TMPRSS6 736 V variant was associated with higher hepcidin levels (p?=?0.017). At multivariate analysis, HFE and A736V TMPRSS6 genotypes predicted serum hepcidin independently of ferritin and C reactive protein (p?=?0.048). In patients without acute inflammation and overt iron deficiency (C reactive protein <1 mg/dl and ferritin >30 ng/ml; n?=?86), hepcidin was associated with lower mean corpuscular volume (p?=?0.002), suggesting that it contributed to iron-restricted erythropoiesis. In line with previous results, in patients without acute inflammation and severe iron deficiency the "high hepcidin" 736 V TMPRSS6 variant was associated with higher erythropoietin maintenance dose (p?=?0.016), independently of subclinical inflammation (p?=?0.02). CONCLUSIONS: The A736V TMPRSS6 genotype influences hepcidin levels, erythropoiesis, and anemia management in CHD patients. Evaluation of the effect of TMPRSS6 genotype on clinical outcomes in prospective studies in CHD may be useful to predict the outcomes of hepcidin manipulation, and to guide treatment personalization by optimizing anemia management.

Dataset Information

Rs10887800 renalase gene polymorphism influences the level of circulating renalase in patients undergoing hemodialysis but not in healthy controls.

Publications

Rs10887800 renalase gene polymorphism influences the level of circulating renalase in patients undergoing hemodialysis but not in healthy controls.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure