scholarly journals Investigation of FADS Gene Cluster Single Nucleotide Polymorphisms in End-Stage Renal Disease Compared With Normal Controls

2021 ◽  
Vol 12 ◽  
Author(s):  
Amirhossein Miladipour ◽  
Mahdi Gholipour ◽  
Kasra Honarmand Tamizkar ◽  
Atefe Abak ◽  
Vahid Kholghi Oskooei ◽  
...  

End-stage renal disease (ESRD) is a public health problem with a high burden. The condition is associated with abnormalities in lipid metabolism. The fatty acid desaturase (FADS) gene cluster includes three genes that are significantly correlated with a number of pathologic conditions related to abnormal lipid levels. In the current study, we genotyped rs174556, rs99780, and rs7115739 single nucleotide polymorphisms within the FADS cluster in a population of ESRD patients and healthy controls. The rs174556 of the FADS1 gene and rs99780 of the FADS2 gene were not associated with the risk of ESRD in any inheritance model. However, the rs7115739 of FADS3 was associated with the risk of ESRD in all models except for the recessive model. The T allele of this SNP was significantly less prevalent among cases compared with controls [odds ratio (OR) (95% CI) = 0.44 (0.25–0.77), P value = 0.004]. GT and TT genotypes has been shown to decrease the risk of ESRD in a codominant model [OR (95% CI) = 0.49 (0.26–0.92) and OR (95% CI) = 0.18 (0.02–1.6), respectively; P value = 0.019]. In the dominant model, GT + TT status was associated with lower risk of ESRD [OR (95% CI) = 0.45 (0.24–0.82), P value = 0.0078]. Assessment of association between this SNP and risk of ESRD in an overdominant model revealed that GT genotype decreases the risk of this condition [OR (95% CI) = 0.5 (0.27–0.94), P value = 0.029]. Taken together, the rs7115739 of FADS3 is suggested as a putative modulator of the risk of ESRD in the Iranian population.

Hypertension ◽  
2000 ◽  
Vol 36 (suppl_1) ◽  
pp. 717-717
Author(s):  
Ruchuang Ding ◽  
Baogui Li ◽  
Mohini Gulhati ◽  
Yun Zhang ◽  
Geraldine Helseth ◽  
...  

P135 Transforming growth factor-beta 1 (TGF-β 1 ) excess is a candidate risk factor for hypertension and hypertensive complications including LVH, vascular remodeling and end stage renal disease (ESRD). We reported that hyperexpression of TGF-β 1 protein is more prevalent in African Americans (AA) compared with Caucasians (C), particularly AA with hypertension and/or ESRD. Single nucleotide polymorphisms (SNPs) have been reported in the TGF-β 1 gene, and there is evidence for heritable control of TGF-β 1 protein levels. In this study we tested the hypothesis that TGF-β 1 SNPs distinguish AA from C. We determined the frequencies of all 6 known biallelic TGF-β 1 DNA polymorphisms in 793 subjects (AA=342 [normal: 77, hypertension: 66, ESRD: 199], C=451 [normal: 142, hypertension: 81, ESRD: 228]). SNPs as well as cis/trans combination of alleles (haplotypes) were identified by designing and using allele specific primers in an amplification refractory mutation system PCR . Our data demonstrate that SNPs at -800bp and -509bp and the haplotype frequencies (GC, GT, AC, AT) are significantly different between AA and C (Table). In conclusion, genetically determined differences in TGF-β 1 production may explain TGF-β 1 excess in AA as well as provide a molecular basis for the excess burden of hypertension and hypertensive complications in AA.


2005 ◽  
Vol 23 (5) ◽  
pp. 384-393 ◽  
Author(s):  
Yukio Maruyama ◽  
Louise Nordfors ◽  
Peter Stenvinkel ◽  
Olof Heimbürger ◽  
Peter Bárány ◽  
...  

2021 ◽  
pp. 19-23

Aim: End-Stage Renal Disease (ESRD) is an important public health problem worldwide with an increasing incidence and prevalence. There are many environmental and genetic factors which contribute to the development of ESRD. Vascular endothelial growth factor (VEGF) has been suggested to play an important role in renal pathophysiology. The aim of this study was to determine the probable relation between ESRD and VEGF gene rs699947 polymorphism in Turkish population. Material and Method: Genotyping of rs699947 was carried out in 50 ESRD patients on dialysis treatment and 30 healthy controls, using a Kompetitive Allelic-Specific PCR (KASP) method following DNA isolation. Demographic and clinical characteristics of the patients were recorded. Results: The prevalance of rs699947 AA genotype was found to be higher in the control group, but it was not statistically significant (p>0.05) . Conclusion: Although statistically insignificant, the frequency of AA genotype was higher in the control group compared to the case group, therefore we concluded that AA genotype may be a protective factor for ESRD in Turkish population. However, this conclusion needs to be further verified by future studies performed in larger study groups.


2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Irfan Mirza ◽  
Ahmad Zeb Khan ◽  
Mufti Baleegh ◽  
Amirullah . ◽  
Tahir Rashid ◽  
...  

Background: Chronic kidney disease is one of the global public health problem. It is a major cause of mortality and morbidity. Endstage renal disease patients will have either option of renal transplant or dialysis. Although dialysis is an effective form of renalreplacement therapy but it also have long term side effects. Pulmonary hypertension is one of them.Objective: To find frequency of pulmonary hypertension among end stage renal disease patients on hemodialysis in our populationMaterial and Methods: In this study a total of 163 patients were included, using 18.8% prevalence of pulmonary hypertension inend stage renal disease patients on hemodialysis, with 95% confidence interval and 6% margin of error, using WHO software. Moreover non-probability consecutive sampling technique was used for sample collection.Results: Our study shows that mean age was 52 years with SD ± 8.21. Fifty five percent patients were male and 73(45%) patientswere female. Forty eight percent patients had pulmonary hypertension.Conclusion: Our study concludes that the incidence of pulmonary hypertension was found to be one of the major contributingfactor among end stage renal disease patients on hemodialysis in our population.


Genomics ◽  
2003 ◽  
Vol 82 (2) ◽  
pp. 194-217 ◽  
Author(s):  
Jeannette T. Bensen ◽  
Carl D. Langefeld ◽  
Gregory A. Hawkins ◽  
Linda E. Green ◽  
Josyf C. Mychaleckyj ◽  
...  

2018 ◽  
Vol 2 (2) ◽  
pp. 174-181
Author(s):  
Lutfi Zylbeari ◽  
Kastriot Haxhirexha ◽  
Nasir Behxheti ◽  
Ferizate Dika- Haxhirexha ◽  
Gazmend Zylbeari ◽  
...  

Background: End Stage Renal disease (ESRD) as it was historically termed is a term that encompasses all degrees of decreased renal function, from damaged–at risk through mild, moderate, and severe chronic kidney failure. ESRD is a worldwide public health problem. In the United States, there is a rising incidence and prevalence of kidney failure, with poor outcomes and high cost (see Epidemiology).Material and Methods: The blood sample for routine analysis (lipidogram) and specific analysis was taken at 08o'clock in the morning with the room temperature that variated from 19 to 24°C, before the hemodialysis session, minimum 12 hours of fasting - with tendency to avoid the absorption effect of food by the intestine as well as avoid absorption of lipids and formation of chilomicrones. In all samples regardless of their group, the concentration of ApoC-II and lipids were analyzed in a period of 12 months in a period of 12 months (the measurements were made every three months, it means we totally made 3 measurements in 9 months).Results: The results from patients and controlling group for Apo-C3 and lipid profile (ChT, TG, HDL-ch, LDL-ch) are given in table number 3. A significant statistical difference with p<0.0001 is found from the results of the lipidic profile and ApoC-III of patients with ESRD treated with HD compared with the results of the controlling group for the same parameters.Conclusion: In this study patients with ESRD treated with HD have high parameters of ApoC-III, TG, LDL-ch but low concentrations of HDL-ch due to impaired catabolism of apolipoproteins in this specific group of patients. In all patients symptoms of CDV (myocardial infarction, angina pectoris, ischemia), acute coronary syndrome were noticed.


Author(s):  
Sofija Sekulic ◽  
Zeljko Mijailovic ◽  
Dejan Petrovic ◽  
Ruzica Lukic ◽  
Marina Jovanovic ◽  
...  

Abstract Chronic Hepatitis C virus (HCV) infection is defined as persistence of HCV RNA in the blood for more than six months. HCV is a major cause of chronic liver disease and cirrhosis. It’s serious public health problem, affects about 71 million people worldwide. HCV doesn’t destroy hepatocytes directly. It activates the host's innate and acquired immune system and causes liver injury indirectly. Behind hepatic, HCV can cause extra-hepatic manifestations. One of them is renal disease which can lead to end-stage renal disease, ESRD. The prevalence of HCV infection in patients on hemodialysis is high, ranging from 5% to 60%. HCV infection is a significant cause of morbidity and mortality in patients with ESRD on hemodialysis. In this review, we discuss HCV infection and chronic renal disease as comorbidities, their severity and outcome.


Author(s):  
Lutfi Zylbeari ◽  
Kastriot Haxhirexha ◽  
Nasir Behxheti ◽  
Ferizate Dika Haxhirexha ◽  
Gazmend Zylbeari ◽  
...  

Background: End Stage Renal disease (ESRD) as it was historically termed is a term that encompasses all degrees of decreased renal function, from damaged–at risk through mild, moderate, and severe chronic kidney failure. ESRD is a worldwide public health problem. In the United States, there is a rising incidence and prevalence of kidney failure, with poor outcomes and high cost (see Epidemiology).Material and Methods: The blood sample for routine analysis (lipidogram) and specific analysis was taken at 08o'clock in the morning with the room temperature that variated from 19 to 24°C, before the hemodialysis session, minimum 12 hours of fasting - with tendency to avoid the absorption effect of food by the intestine as well as avoid absorption of lipids and formation of chilomicrones. In all samples regardless of their group, the concentration of ApoC-II and lipids were analyzed in a period of 12 months in a period of 12 months (the measurements were made every three months, it means we totally made 3 measurements in 9 months).Results: The results from patients and controlling group for Apo-C3 and lipid profile (ChT, TG, HDL-ch, LDL-ch) are given in table number 3. A significant statistical difference with p<0.0001 is found from the results of the lipidic profile and ApoC-III of patients with ESRD treated with HD compared with the results of the controlling group for the same parameters.Conclusion: In this study patients with ESRD treated with HD have high parameters of ApoC-III, TG, LDL-ch but low concentrations of HDL-ch due to impaired catabolism of apolipoproteins in this specific group of patients. In all patients symptoms of CDV (myocardial infarction, angina pectoris, ischemia), acute coronary syndrome were noticed.


Author(s):  
Neiberg A. Lima ◽  
Carol C. Vasconcelos ◽  
Pedro Henrique O. Filgueira ◽  
Meissa Kretzmann ◽  
Ticiano A. S. Sindeaux ◽  
...  

Tuberculosis (TB) is a current public health problem, remaining the most common worldwide cause of mortality from infectious disease. Recent studies indicate that genitourinary TB is the third most common form of extra-pulmonary disease. The diagnosis of renal TB can be hypothesized in a non-specific bacterial cystitis associated with a therapeutic failure or a urinalysis with a persistent leukocyturia in the absence of bacteriuria. We report on the case of a 33-year-old man who presented on admission end stage renal disease (ESRD) secondary to renal TB and a past history of pulmonary TB with important radiologic findings. The diagnosis was based on clinical findings despite all cultures being negative. Empiric treatment with tuberculostatic drugs was started and the patient became stable. He was discharged with no symptom, but without renal function recovery. He is on maintenance hemodialysis three times a week. TB is an important cause of kidney disease and can lead to irreversible renal function loss.


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