scholarly journals LDLR gene polymorphism (rs688) affects susceptibility to cardiovascular disease in end-stage kidney disease patients

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Monika Buraczynska ◽  
Jerry Jacob ◽  
Karolina Gwiazda-Tyndel ◽  
Andrzej Ksiazek
Keyword(s):  
Cardiovascular Disease ◽  
Kidney Disease ◽  
Gene Polymorphism ◽  
Genotype Distribution ◽  
Healthy Controls ◽  
End Stage Kidney Disease ◽  
Allele Distribution ◽  
Increased Risk ◽  
Significant Difference ◽  
End Stage

Abstract Background The low-density lipoprotein receptor (LDLR) plays a significant role in maintaining the cellular cholesterol homeostasis. Mutations in the LDLR gene can lead to a significant rise in plasma LDL levels that may result in an increased risk of atherosclerosis and coronary heart disease. The purpose of this study was to assess the potential association of the LDLR rs688 polymorphism with cardiovascular disease (CVD) in patients with end-stage kidney disease (ESKD) undergoing hemodialysis. Methods In this case-control study the polymorphism was genotyped by the allele specific PCR method in 800 patients with ESKD and 500 healthy controls. The genotype and allele distribution was compared in subgroups of patients with CVD (552) versus those without CVD (248). Results A significant difference was observed in genotype distribution among ESKD patients and healthy controls. The frequencies of the T allele and TT genotype in ESKD group were significantly higher, with OR (95% CI) 2.2 (1.87–2.6), p <  0.0001 and 5.84 (3.94–8.65), p <  0.0001, respectively. In the he ESKD cohort the distribution of the rs688 was compared between CVD+ and CVD- subgroups. A strong association of the polymorphism with the CVD risk was observed in this analysis. The frequencies of the T allele and TT genotype were significantly higher in CVD+ subgroup, with OR (95% CI) 3.4 (2.71–4.26), p <  0.0001 and 13.2 (7.87–22.09), p <  0.0001, respectively. A multivariate logistic regression analysis was performed to estimate the association between rs688 T variant and risk of CVD. After adjustment for age, sex, BMI, hypertension and diabetes, both CT and TT genotypes were associated with an increased risk of developing CVD in the dominant, recessive and codominant models of inheritance. No significant differences in serum LDL cholesterol levels were found when compared between genotypes. Conclusions The present study is the first to demonstrate the association of the LDLR gene polymorphism with increased susceptibility to cardiovascular disease in ESKD patients. This finding needs further investigation to confirm that LDLR rs688 might be a novel genetic risk factor with some prognostic capacity for CVD in ESKD patients.

Types of erythropoiesis-stimulating agents and risk of end-stage kidney disease and death in patients with non-dialysis chronic kidney disease

2020 ◽  
Author(s):  
Roberto Minutolo ◽  
Carlo Garofalo ◽  
Paolo Chiodini ◽  
Filippo Aucella ◽  
Lucia Del Vecchio ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Primary Endpoint ◽  
End Stage Kidney Disease ◽  
Short Acting ◽  
Erythropoiesis Stimulating Agents ◽  
Increased Risk ◽  
Significant Difference ◽  
Long Acting ◽  
End Stage

Abstract Background Despite the widespread use of erythropoiesis-stimulating agents (ESAs) to treat anaemia, the risk of adverse outcomes associated with the use of different types of ESAs in non-dialysis chronic kidney disease (CKD) is poorly investigated. Methods From a pooled cohort of four observational studies, we selected CKD patients receiving short-acting (epoetin α/β; n = 299) or long-acting ESAs (darbepoetin and methoxy polyethylene glycol-epoetin β; n = 403). The primary composite endpoint was end-stage kidney disease (ESKD; dialysis or transplantation) or all-cause death. Multivariable Cox models were used to estimate the relative risk of the primary endpoint between short- and long-acting ESA users. Results During follow-up [median 3.6 years (interquartile range 2.1–6.3)], the primary endpoint was registered in 401 patients [166 (72%) in the short-acting ESA group and 235 (58%) in the long-acting ESA group]. In the highest tertile of short-acting ESA dose, the adjusted risk of primary endpoint was 2-fold higher {hazard ratio [HR] 2.07 [95% confidence interval (CI) 1.37–3.12]} than in the lowest tertile, whereas it did not change across tertiles of dose for long-acting ESA patients. Furthermore, the comparison of ESA type in each tertile of ESA dose disclosed a significant difference only in the highest tertile, where the risk of the primary endpoint was significantly higher in patients receiving short-acting ESAs [HR 1.56 (95% CI 1.09–2.24); P = 0.016]. Results were confirmed when ESA dose was analysed as continuous variable with a significant difference in the primary endpoint between short- and long-acting ESAs for doses &gt;105 IU/kg/week. Conclusions Among non-dialysis CKD patients, the use of a short-acting ESA may be associated with an increased risk of ESKD or death versus long-acting ESAs when higher ESA doses are prescribed.

scholarly journals Cardiovascular disease in chronic kidney disease – a review of risk factors

2020 ◽  
Vol 23 (1) ◽  
Author(s):  
Muzamil Olamide Hassan ◽  
Stephen Olawale Oguntola ◽  
Raquel Duarte ◽  
Saraladevi Naicker
Keyword(s):  
Risk Factors ◽  
Cardiovascular Disease ◽  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Evidence Based ◽  
End Stage Kidney Disease ◽  
Increased Risk ◽  
Risk Of Progression ◽  
Novel Biomarkers ◽  
End Stage

Patients with chronic kidney disease (CKD) are at increased risk of cardiovascular disease (CVD), such that the risk of cardiovascular mortality is greater than the risk of progression to end-stage kidney disease. Despite the increased prevalence of traditional and non-traditional cardiovascular risk factors, patients with kidney disease have been mostly under-represented in previous cardiovascular outcome studies, thereby resulting in a paucity of data on the evidence-based management of CVD in CKD. In this review, we explore the evidence on the burden of CVD and its risk factors in patients with CKD, highlight various inflammatory biomarkers for predicting CVD and provide an overview on novel biomarkers for CVD.

scholarly journals Cardiopulmonary exercise testing (CPET) in patients with end-stage kidney disease (ESKD): principles, methodology and clinical applications of the optimal tool for exercise tolerance evaluation

2021 ◽  
Author(s):  
Eva Pella ◽  
Afroditi Boutou ◽  
Aristi Boulmpou ◽  
Christodoulos E Papadopoulos ◽  
Aikaterini Papagianni ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Exercise Testing ◽  
Cardiopulmonary Exercise Testing ◽  
Exercise Intolerance ◽  
End Stage Kidney Disease ◽  
Exercise Limitation ◽  
Cardiopulmonary Exercise ◽  
Functional Reserves ◽  
Increased Risk ◽  
End Stage

Abstract Chronic kidney disease (CKD), especially end-stage kidney disease (ESKD), is associated with increased risk for cardiovascular events and all-cause mortality. Exercise intolerance as well as reduced cardiovascular reserve are extremely common in patients with CKD. Cardiopulmonary exercise testing (CPET) is a non-invasive, dynamic technique that provides an integrative evaluation of cardiovascular, pulmonary, neuropsychological and metabolic function during maximal or submaximal exercise, allowing the evaluation of functional reserves of these systems. This assessment is based on the principle that system failure typically occurs when the system is under stress and, thus, CPET is currently considered to be the gold-standard for identifying exercise limitation and differentiating its causes. It has been widely used in several medical fields for risk stratification, clinical evaluation and other applications but its use in everyday practice for CKD patients is scarce. This article describes the basic principles and methodology of CPET and provides an overview of important studies that utilized CPET in patients with ESKD, in an effort to increase awareness of CPET capabilities among practicing nephrologists.

Abstract 145: Rates of Transfusion and Progression to End-Stage Renal Disease in Chronic Kidney Disease Patients Undergoing Transradial Versus Transfemoral Cardiac Catheterization - An Analysis from the VA CART Program

2014 ◽  
Vol 7 (suppl_1) ◽  
Author(s):  
Amit N Vora ◽  
Maggie A Stanislawski ◽  
John S Rumsfeld ◽  
Thomas M Maddox ◽  
Mladen Vidovich ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Cardiac Catheterization ◽  
High Risk Population ◽  
Post Procedure ◽  
Increased Risk ◽  
Significant Difference ◽  
Independent Association ◽  
Stage Renal Disease ◽  
End Stage

Background: Patients with chronic kidney disease (CKD) are at increased risk of bleeding and transfusion after cardiac catheterization. Whether rates of these complications or progression to new dialysis are increased in this high-risk population undergoing transradial (TR) access compared to transfemoral (TF) access is unknown. Methods: From the Veterans Affairs Clinical Assessment, Reporting, and Tracking (CART) Program between 10/2007-09/2012 we identified 40,160 CKD patients undergoing cardiac catheterization with baseline glomerular filtration rate (GFR) ≤ 60 ml/min. We used multivariable Cox modeling to determine the independent association between TR access and post-procedure transfusion as well as progression to new dialysis using TF as the reference. Results: Overall, 3,828 (9.5%) of CKD patients underwent TR access and tended to be slightly younger but overall had similar rates of CKD severity compared with TF patients (GFR 45-60 ml/min: 77.0% vs. 77.0%; GFR 30-44 ml/min: 19.7% vs. 19.3%; GFR 15-29 ml/min: 3.3% vs. 3.7%, p=0.35). TR patients had longer fluoroscopy times (8.1 vs 6.9 minutes, p=<0.0001) but decreased contrast use (90.0 vs 100.0 ml, p=<0.0001). Among the 31,692 patients with a full year of follow-up, 42 (1.7%) of TR patients and 545 (1.9%) of TF patients progressed to new dialysis within 1 year (p=0.64). However, only 33 (0.9%) of TR patients compared with 570 TF patients (1.6%) needed post-procedure blood transfusion (p=0.0006). After multivariable adjustment, there was no significant difference in progression to ESRD between TR and TF patients but TR was associated with a significant decrease in transfusion (Figure). Conclusion: Among CKD patients undergoing cardiac catheterization in the VA health system, TR access is associated with a decreased risk for post-procedure transfusion compared with TF access. There was no significant difference between the two approaches with respect to progression to ESRD. These data suggest that TR is a reasonable option for patients with any level of CKD undergoing cardiac catheterization.

Type 2 diabetes in patients with end‐stage kidney disease: influence on cardiovascular disease‐related mortality risk

2018 ◽  
Vol 209 (10) ◽  
pp. 440-446 ◽  
Author(s):  
Wai H Lim ◽  
David W Johnson ◽  
Carmel Hawley ◽  
Charmaine Lok ◽  
Kevan R Polkinghorne ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Cardiovascular Disease ◽  
Kidney Disease ◽  
Mortality Risk ◽  
End Stage Kidney Disease ◽  
End Stage ◽  
Related Mortality

scholarly journals Association of the CACNA2D2 gene with schizophrenia in Chinese Han population

PeerJ ◽  
2020 ◽  
Vol 8 ◽  
pp. e8521
Author(s):  
Yingli Fu ◽  
Na Zhou ◽  
Wei Bai ◽  
Yaoyao Sun ◽  
Xin Chen ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Chinese Women ◽  
Han Chinese ◽  
Type I ◽  
Genotype Distribution ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Increased Risk ◽  
Significant Difference

Background Schizophrenia (SCZ) is a severely complex psychiatric disorder in which ~80% can be explained by genetic factors. Single nucleotide polymorphisms (SNPs) in calcium channel genes are potential genetic risk factors for a spectrum of psychiatric disorders including SCZ. This study evaluated the association between SNPs in the voltage-gated calcium channel auxiliary subunit alpha2delta 2 gene (CACNA2D2) and SCZ in the Han Chinese population of Northeast China. Methods A total of 761 SCZ patients and 775 healthy controls were involved in this case-control study. Three SNPs (rs3806706, rs45536634 and rs12496815) of CACNA2D2 were genotyped by the MALDI-TOF-MS technology. Genotype distribution and allele frequency differences between cases and controls were tested by Chi-square (χ2) in males and females respectively using SPSS 24.0 software. Linkage disequilibrium and haplotype analyses were conducted using Haploview4.2. The false discovery rate correction was utilized to control for Type I error by R3.2.3. Results There was a significant difference in allele frequencies (χ2 = 9.545, Padj = 0.006) and genotype distributions (χ2 = 9.275, Padj = 0.006) of rs45536634 between female SCZ patients and female healthy controls after adjusting for multiple comparisons. Minor allele A (OR = 1.871, 95% CI [1.251–2.798]) and genotype GA + AA (OR = 1.931, 95% CI [1.259–2.963]) were associated with an increased risk of SCZ. Subjects with haplotype AG consisting of rs45536634 and rs12496815 alleles had a higher risk of SCZ (OR = 1.91, 95% CI [1.26–2.90]) compared those with other haplotypes. Conclusions This study provides evidence that CACNA2D2 polymorphisms may influence the susceptibility to SCZ in Han Chinese women.

scholarly journals Association of SHANK3 Gene Polymorphism and Parkinson Disease in the North of Iran

2021 ◽  
Vol 12 (1) ◽  
pp. 57-62
Author(s):  
Nahid Mizban ◽  
◽  
Nasim Vousooghi ◽  
Nasrin Mizban ◽  
◽  
...  
Keyword(s):  
Parkinson Disease ◽  
Neurodegenerative Disorder ◽  
Genotype Distribution ◽  
Scaffolding Proteins ◽  
Allele Distribution ◽  
The North ◽  
Increased Risk ◽  
Significant Difference ◽  
North Of Iran ◽  
Domain 3

Introduction: Parkinson Disease (PD), the second most common chronic neurodegenerative disorder, is characterized by tremor, bradykinesia, rigidity, and postural instability. SHANK3 (SH3 and multiple ankyrin repeat domain 3) belongs to the extremely conserved ProSAP/ Shank family of synaptic scaffolding proteins. Meanwhile, rs9616915 is a non-synonymous SNP (T>C) located in the exon 6 of the SHANK3 gene, which induces substitution of isoleucine to threonine and affects the function of the resulted protein. The present study aimed to evaluate whether rs9616915 polymorphism of SHANK3 is involved in the susceptibility to PD. Methods: The study subjects were 100 patients diagnosed with PD and 100 control volunteers. The obtained samples were evaluated by the polymerase chain reaction-restriction fragment length polymorphism method. Results: A significant association was found in genotype distribution between cases and controls. Individuals with TC genotype had increased risk of PD (P=0.035, OR=1.98, 95% CI=1.04 - 3.74). No significant difference was found in allele distribution (P=0.7). Conclusion: The findings suggest that the SHANK3 rs9616915 polymorphism is associated with an increased risk of PD in the population. Further studies are needed to confirm the role of the SHANK3 gene in PD.

scholarly journals CRP Gene Polymorphism and Their Risk Association With Type 2 Diabetes Mellitus

2019 ◽  
Vol 7 (1) ◽  
pp. 33-37
Author(s):  
Hakim Bahlok Jebur ◽  
Mirza Masroor ◽  
Hafiz Ahmad ◽  
Naushad Ahmad Khan ◽  
Juheb Akther ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Gene Polymorphism ◽  
Inflammatory Marker ◽  
Genotype Distribution ◽  
Reactive Protein ◽  
Specific Pcr ◽  
Increased Risk ◽  
Significant Difference ◽  
Allele Specific

BACKGROUND: C-reactive protein (CRP) is an inflammatory marker associated with T2DM, obesity, insulin resistance, and cardiovascular disease. AIM: The present study evaluates the association of CRP +1059 G/C polymorphism of the CRP gene in 100 T2D cases and 100 healthy controls. METHODS: Present study was done by allele specific PCR method to study the CRP gene polymorphism in study subjects. RESULTS: Study found that CRP (+1059 G/C) genotype distribution among case and controls was found to be significant (p=0.001), Higher CRP C allele frequency (0.16) was observed compared to controls (0.04). CRP +1059 GC and CC had 2.72 (1.12-6.61), 20.56 (1.16-362.1) risk for T2D. It has been observed, HTN, Obesity, Smoking and alcoholism was found to be associated with increased risk of T2D, and a significant difference was observed in biochemical parameters. CONCLUSION: Study concluded that CRP gene polymorphism was found to be associated with risk of Type 2 Diabetes and risk was linked with heterozygosity and mutant homozygosity. Hypertension, Obesity, Smoking and alcoholism increases the risk of occurrence of Type 2 Diabetes.

Abstract P374: Associations Of Renin-angiotensin System Blockade Discontinuation With End-stage Kidney Disease, Major Adverse Cardiovascular Events, And Death Among People With Chronic Kidney Disease

Circulation ◽  
2020 ◽  
Vol 141 (Suppl_1) ◽  
Author(s):  
Yao Qiao ◽  
Jung-im Shin ◽  
Teresa Chen ◽  
Lesley Inker ◽  
Josef Coresh ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Propensity Score ◽  
Cardiovascular Events ◽  
Major Adverse Cardiovascular Events ◽  
Matched Sample ◽  
End Stage Kidney Disease ◽  
Converting Enzyme Inhibitors ◽  
Significant Difference ◽  
End Stage ◽  
Egfr Decline

Introduction: Among individuals with impaired kidney function, whether and when angiotensin-converting enzyme inhibitors (ACE-I) and angiotensin II receptor blockers (ARB) should be discontinued is unclear. We investigated the associations of ACE-I/ARB discontinuation with end-stage kidney disease (ESKD), major adverse cardiovascular events (MACE), and mortality in individuals who had an eGFR decline to below 30 ml/min/1.73m 2 . Hypothesis: Patients with ACE-I/ARB discontinuation after an eGFR decline to below 30 ml/min/1.73m 2 are at higher risks of ESKD, MACE, and mortality. Methods: Using electronic health records data from the Geisinger Health System, we identified individuals who initiated ACE-I/ARB between 01/01/2004 and 02/28/2019 and had an eGFR decline to below 30 ml/min/1.73m 2 . We classified patients based on whether they discontinued ACE-I/ARB within six months following the eGFR decline. We assessed the associations of ACE-I/ARB discontinuation with ESKD, MACE, and mortality over the subsequent five years in a propensity-score matched sample. Results: Among the 3879 patients who met eligibility criteria, 1219 discontinued ACE-I/ARB within six months after eGFR decline to below 30 ml/min/1.73m 2 . The propensity-score matched sample contained 1190 patients under each arm. ACE-I/ARB discontinuation was associated with higher risks of mortality (hazard ratio (HR): 1.45 [95% confidence interval (CI): 1.26-1.67]) and MACE (HR: 1.37 [95% CI: 1.20-1.57]), but no significant difference in risk of ESKD (HR: 1.31 [95% CI: 0.95-1.81]). Similar patterns held when evaluating ACE-I/ARB discontinuation following a 40% or greater decline in eGFR within a year. Conclusions: Our findings suggest there may be benefits of continued use of ACE-I/ARB in individuals who had an eGFR decline to below 30 ml/min/1.73m 2 .

Potential Impact of MicroRNA-423 Gene Variability in Coronary Artery Disease

2019 ◽  
Vol 19 (1) ◽  
pp. 67-74 ◽  
Author(s):  
Chandan K. Jha ◽  
Rashid Mir ◽  
Imadeldin Elfaki ◽  
Naina Khullar ◽  
Suriya Rehman ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Recessive Model ◽  
Amplification Refractory Mutation System ◽  
Genotype Distribution ◽  
Healthy Controls ◽  
Increased Risk ◽  
Significant Difference ◽  
Artery Disease ◽  
Gene Variability

Aim: Studies have evaluated the association of miRNA-423 C>A genotyping with the susceptibility to various diseases such cancers, atherosclerosis and inflammatory bowel disease but the results were contradictory. However, no studies have reported the association between miRNA-423 rs6505162 C>A polymorphism and susceptibility of coronary artery disease. MicroRNAs regulate expression of multiple genes involved in atherogenesis. Therefore, we investigated the association of microRNA-423C>T gene variations with susceptibility to coronary artery disease. Methodology: This study was conducted on 100 coronary artery disease patients and 117 matched healthy controls. The genotyping of the microRNA-423 rs6505162C>A was performed by using Amplification refractory mutation system PCR method (ARMS-PCR). Results: A significant difference was observed in the genotype distribution among the coronary artery disease cases and sex-matched healthy controls (P=0.048). The frequencies of all three genotypes CC, CA, AA reported in the patient’s samples were 55%, 41% and 4% and in the healthy controls samples were 55%, 41% and 4% respectively. Our findings showed that the microRNA-423 C>A variant was associated with an increased risk of coronary artery disease in codominant model (OR = 1.96, 95 % CI, 1.12-3.42; RR 1.35(1.05-1.75, p=0.017) of microRNA-423CA genotype and significant association in dominant model (OR 1.97, 95% CI (1.14-3.39), (CA+AA vs CC) and non-significant association for recessive model (OR=1.42, 95%CI=0.42-4.83, P=0.56, AA vs CC+CA).While, the A allele significantly increased the risk of coronary artery disease (OR =1.56, 95 % CI, 1.03-2.37; p=0.035) compared to C allele. Therefore, it was observed that more than 1.96, 1.97 and 1.56 fold increased risk of developing coronary artery disease. Conclusion: Our findings indicated that microRNA-423 CA genotype and A allele are associated with an increased susceptibility to Coronary artery disease.

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