CX3CR1 at V249M and T280M Gene Polymorphism and Its Potential Risk for End-Stage Renal Diseases in Egyptian Patients.
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ABSTRACT:
SUBMITTER: Ibrahim AF
PROVIDER: S-EPMC8093072 | biostudies-literature | 2021
REPOSITORIES: biostudies-literature
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CX3CR1 at V249M and T280M Gene Polymorphism and Its Potential Risk for End-Stage Renal Diseases in Egyptian Patients.
Ibrahim Asmaa Fathelbab AF Osman Asmaa Osama Bakr Seddik AOBS Elabbasy Lamiaa M LM Abdelsalam Mostafa M Wahab A M AM Zaki Maysaa El Sayed MES Abdel-Latif Radwa Ahmed Rabea RAR
International journal of nephrology 20210424
CX3CL1-CX3CR1 pathway may be one of the future treatment targets to delay the progression of end-stage renal diseases. This study aimed to evaluate the CX3CR gene polymorphism in Egyptian patients with ESRD and its relation to fractalkine blood level. The study included 100 patients with ESRD on dialysis, 61 males and 39 females with mean age 51.02 ± 7.8 years. The V2491 genotype revealed a significant increase in the frequency of GG genotype in healthy control (83%) compared to patients [69%] w ...[more]
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Project description:ObjectiveEnd-stage renal disease (ESRD) is a severe health concern over the world. Associations between apolipoprotein E (apoE) gene polymorphisms and the risk of ESRD remained inconclusive. This study aimed to investigate the association between apoE gene polymorphisms and ESRD susceptibility.MethodsDatabases including PubMed, Embase, Web of Science and the Cochrane Library were searched to find relevant studies. Meta-analysis method was used synthesize the eligible studies.ResultsSixteen pertinent case-control studies which included 3510 cases and 13924 controls were analyzed. A significant association was found between ε2 allele and the ESRD risk (odds ratio (OR) = 1.30, 95% confidence interval (CI) 1.15-1.46, P < 0.0001; I (2) = 18%, P for heterogeneity = 0.24). The ε2ε3, ε2ε4, ε3ε3, ε3ε4, ε4ε4, ε3 and ε4 were not associated with the susceptibility of ESRD. In the subgroup analysis by ethnicity, there was a statistically significant association between ε2ε3 or ε2 allele and ESRD risk in East Asians (OR = 1.66, 95% CI 1.31-2.10, P < 0.0001; OR = 1.62, 95% CI 1.31-2.01, P < 0.0001, respectively), but not in Caucasians. E2 carriers had higher plasma apoE (mean difference = 16.24 mg/L, 95% CI 7.76-24.73, P = 0.0002) than the (ε3 + ε4) carriers in patients with ESRD. The publication bias was not significant.ConclusionThe ε2 allele of apoE gene might increase the risk of ESRD. E2 carriers expressed higher level of plasma apoE in patients with ESRD. More well-designed studies are needed to confirm these associations in the future.
| S-EPMC3862680 | biostudies-literature
Project description:The prevalence of risk factors of chronic kidney disease in Saudi Arabia has augmented an already serious public health problem, therefore, determination of genetic variants associated with the risk of the disease presents potential screening tools that help reducing the incidence rates and promote effective disease management.The aim of the present study is to determine the association of UMOD and MYH9 genetic variants with the risk of non-diabetic end-stage renal disease (ESRD) in the Saudi population.Two single nucleotide polymorphisms (SNP), rs12917707 in gene UMOD and rs4821480 in gene MYH9 were genotyped in 154 non-diabetic ESRD Saudi patients and 123 age-matched healthy controls using Primers and Polymerase chain reaction conditions (PCR), Sanger sequencing, and TaqMan Pre-designed SNP Genotyping Assay. The association of these genetic variants with the risk of the disease and other renal function determinants was assessed using statistical tools such as logistic regression and One-way Analysis of Variance tests.The genotypic frequency of the two SNPs showed no deviation from Hardy-Weinberg equilibrium, the minor allele frequency of UMOD SNP was 0.13 and MYH9 SNP was 0.08. rs4821480 in MYH9 was significantly associated with the risk of non-diabetic ESRD (OR = 3.86; 95%CI: 1.38-10.82, P value .010), while, rs12917707 showed lack of significant association with the disease, P value .380. and neither of the 2 SNPs showed any association with the renal function determinants, serum albumin, and alkaline phosphatase enzyme.
| S-EPMC7220318 | biostudies-literature
Project description:BackgroundOxidative stress in patients with end-stage renal disease (ESRD) is associated with long-term cardiovascular complications. The cytosolic family of glutathione S-transferases (GSTs) is involved in the detoxication of various toxic compounds and antioxidant protection. GST omega class members, GSTO1 and GSTO2 possess, unlike other GSTs, dehydroascorbate reductase and deglutathionylation activities. The aim of this study was to clarify the role of genetic polymorphisms of GSTO1 (rs4925) and GSTO2 (rs156697) as risk determinants for ESRD development, as well as in the survival of these patients.MethodsA total of 199 patients and 199 healthy subjects were included in the study and genotyped for both GSTO1 and GSTO2 polymorphism. Protein thiol and carbonyl groups as markers of protein oxidative damage were determined spectrophotometrically. Cox proportional hazard model and Kaplan-Meier analysis were performed to investigate the role of GSTO1 and GSTO2 genetic polymorphism on mortality of ESRD patients during the follow-up period (36 month).ResultsIndividuals carrying the variant GSTO2 GG genotype were at 2.45-fold higher risk of ESRD development compared to the wild type GSTO2 AA genotype (OR=2.45; 95%CI=1.18-5.07; p=0.016). The results of GSTO1/GSTO2 haplotype analysis showed that the haplotype combination of GSTO1 (*A)/GSTO2 (*A) (GSTO1 variant/GSTO2 wild type allele) was protective for ESRD (OR=0.23 95%CI=0.12-0.44, p=0.001). Patients carrying at least one GSTO1 reference allele have shorter mean overall (Log rank=2.844, p =0.241) and cardiovascular survival probability (Log rank=4.211, p=0.122).ConclusionsGSTO polymorphisms have been shown to act as significant markers in assessing the risk of ESRD development and patients' survival.
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Project description:Variants of the transcription factor 7-like 2 gene (TCF7L2) have been associated with type 2 diabetes and cardiovascular disease in different populations. Here we investigated the potential association of the rs7903146 polymorphism in the TCF7L2 gene with clinical profile of end-stage renal disease (ESRD) patients. We examined a cohort of 1065 ESRD patients with diabetic and non-diabetic renal disease. The control group consisted of 924 healthy individuals. All subjects were genotyped for the rs7903146 single nucleotide polymorphism by polymerase chain reaction. The genotype distribution and allele frequencies were significantly different between ESRD patients and controls (p < 0.01). The OR for the TT genotype was 2.81 (95% CI 2.08-3.79). Genotype and allele frequencies were compared between subgroups of patients with different clinical phenotypes. The frequency of the T allele was significantly higher in patients with diabetic nephropathy versus non-diabetic renal disease (p = 0.007, OR 1.70, 95% CI 1.36-2.11). The statistically significant differences were demonstrated between patients with and without cardiovascular disease, with the OR for T allele 1.57 (95% CI 1.31-1.90). The odds ratio for TT genotype was 2.38 (95% CI 1.62-3.51). In our study the T allele of the rs7903146 SNP in the TCF7L2 gene confers the risk of developing diabetic nephropathy. We described for the first time a strong relationship between the TCF7L2 gene variant rs7903146 and cardiovascular disease in end-stage renal disease patients.
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Project description:ImportanceRisk of end-stage renal disease (ESRD) in kidney donors has been compared with risk faced by the general population, but the general population represents an unscreened, high-risk comparator. A comparison to similarly screened healthy nondonors would more properly estimate the sequelae of kidney donation.ObjectivesTo compare the risk of ESRD in kidney donors with that of a healthy cohort of nondonors who are at equally low risk of renal disease and free of contraindications to live donation and to stratify these comparisons by patient demographics.Design, settings, and participantsA cohort of 96,217 kidney donors in the United States between April 1994 and November 2011 and a cohort of 20,024 participants of the Third National Health and Nutrition Examination Survey (NHANES III) were linked to Centers for Medicare & Medicaid Services data to ascertain development of ESRD, which was defined as the initiation of maintenance dialysis, placement on the waiting list, or receipt of a living or deceased donor kidney transplant, whichever was identified first. Maximum follow-up was 15.0 years; median follow-up was 7.6 years (interquartile range [IQR], 3.9-11.5 years) for kidney donors and 15.0 years (IQR, 13.7-15.0 years) for matched healthy nondonors.Main outcomes and measuresCumulative incidence and lifetime risk of ESRD.ResultsAmong live donors, with median follow-up of 7.6 years (maximum, 15.0), ESRD developed in 99 individuals in a mean (SD) of 8.6 (3.6) years after donation. Among matched healthy nondonors, with median follow-up of 15.0 years (maximum, 15.0), ESRD developed in 36 nondonors in 10.7 (3.2) years, drawn from 17 ESRD events in the unmatched healthy nondonor pool of 9364. Estimated risk of ESRD at 15 years after donation was 30.8 per 10,000 (95% CI, 24.3-38.5) in kidney donors and 3.9 per 10,000 (95% CI, 0.8-8.9) in their matched healthy nondonor counterparts (P < .001). This difference was observed in both black and white individuals, with an estimated risk of 74.7 per 10,000 black donors (95% CI, 47.8-105.8) vs 23.9 per 10,000 black nondonors (95% CI, 1.6-62.4; P < .001) and an estimated risk of 22.7 per 10,000 white donors (95% CI, 15.6-30.1) vs 0.0 white nondonors (P < .001). Estimated lifetime risk of ESRD was 90 per 10,000 donors, 326 per 10,000 unscreened nondonors (general population), and 14 per 10,000 healthy nondonors.Conclusions and relevanceCompared with matched healthy nondonors, kidney donors had an increased risk of ESRD over a median of 7.6 years; however, the magnitude of the absolute risk increase was small. These findings may help inform discussions with persons considering live kidney donation.
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Project description:BackgroundIn recent genetic association studies, common variants including rs12917707 in the UMOD locus have shown strong evidence of association with eGFR, prevalent and incident chronic kidney disease and uromodulin urinary concentration in general population cohorts. The association of rs12917707 with end-stage renal disease (ESRD) in a recent case-control study was only nominally significant.MethodsTo investigate whether rs12917707 associates with ESRD, graft failure (GF) and urinary uromodulin levels in an independent cohort, we genotyped 1142 ESRD patients receiving a renal transplantation and 1184 kidney donors as controls. After transplantation, 1066 renal transplant recipients were followed up for GF. Urinary uromodulin concentration was measured at median [IQR] 4.2 [2.2-6.1] yrs after kidney transplantation.ResultsThe rs12917707 minor allele showed association with lower risk of ESRD (OR 0.89 [0.76-1.03], p = 0.04) consistent in effect size and direction with the previous report (Böger et al, PLoS Genet 2011). Meta-analysis of these findings showed significant association of rs12917707 with ESRD (OR 0.91 [0.85-98], p = 0.008). In contrast, rs12917707 was not associated with incidence of GF. Urinary uromodulin concentration was lower in recipients-carriers of the donor rs12917707 minor allele as compared to non-carriers, again consistent with previous observations in general population cohorts.ConclusionsOur study thus corroborates earlier evidence and independently confirms the association between UMOD and ESRD.
| S-EPMC3495046 | biostudies-literature
Project description:BackgroundPrimary glomerulonephritis (GN) is the leading cause of chronic kidney disease (CKD) and frequently progresses into end stage renal diseases (ESRDs). Shorter leukocyte telomere length (LTL) has been implicated in the CKD susceptibility and diminished kidney function, however, it is unclear whether the variants in telomerase genes contribute to risk to GN/CKD/ESRD. Here we address this issue by determining their association with the genetic variants of rs12696304 at the telomerase RNA component (TERC) and rs2736100 at the telomerase reverse transcriptase (TERT) loci.MethodsThe study includes 769 patients (243 primary GN-derived CKD and 526 ESRD cases) and sex-/age-matched healthy controls. Genomic DNA was extracted from peripheral blood of both controls and patients. Genotyping of rs12696304 and rs2736100 variants was carried out using PCR-based assays. Leukocyte telomere length (LTL) was determined using quantitative PCR (qPCR).ResultsA significantly higher frequency of TERC rs12696304 G allele was observed in patients and associated with increased disease risk (C vs G: OR = 1.334, 95% CI 1.112-1.586, P = 0.001; CC + GC vs GG: OR = 1.334, 95% CI 1.122-1.586, P = 0.001). Further analyses showed that such significant differences were only present between female controls and patients (C vs G: OR = 1.483, 95% CI 1.140-1.929, P = 0.003; CC + GC vs CC: OR = 1.692, 95% CI 1.202-2.383, P = 0.003), but not males. There were no differences in rs2736100 variants between controls and patients, but female ESRD patients carried significantly higher C allele frequencies than did female controls (A vs C: OR = 1.306, 95% CI 1.005-1.698, P = 0.046; AA vs CC: OR = 1.781, 95% CI 1.033-3.070, P = 0.037). There was no difference in LTL between controls and patients.ConclusionsOur results reveal that the TERC rs12696304 and TERT rs2736100 polymorphisms, but not LTL per se, contribute to GN/CDK/ESRD risk.
| S-EPMC7199377 | biostudies-literature
Project description:Background and objectivesEndocarditis is a serious complication in patients treated with RRT. The study aimed to examine incidence and risk factors of endocarditis in patients with ESRD.Design, setting, participants, & measurementsThe Danish National Registry on Regular Dialysis and Transplantation contains data on all Danish patients receiving renal replacement (hemodialysis, peritoneal dialysis, or kidney transplantation) for ESRD. Incidence of endocarditis was estimated for each RRT modality. Independent risk factors of endocarditis were identified in multivariable Cox regression models.ResultsFrom January 1st, 1996 to December 31st, 2012, 10,612 patients (mean age 63 years, 36% female) initiated RRT (7233 hemodialysis, 3056 peritoneal dialysis, 323 pre-emptive kidney transplantation). Endocarditis developed in 267 (2.5%); of these 31 (12%) underwent valve surgery. The overall incidence of endocarditis was 627 per 100,000 person-years in patients receiving RRT. Incidence was higher in patients receiving hemodialysis compared with those receiving peritoneal dialysis or kidney transplantation (1092 per 100,000 person-years, 212 per 100,000 person-years, and 85 per 100,000 person-years, respectively). Adjusted hazard ratios for endocarditis in patients receiving hemodialysis were 5.46 (95% confidence interval [95% CI], 3.28 to 9.10) and 0.41 (95% CI, 0.18 to 0.91) for kidney-transplanted recipients, respectively, as compared with patients in peritoneal dialysis. The incidence of endocarditis in hemodialysis recipients with central venous catheters was more than two-fold higher as compared with those with arteriovenous fistulas. Overall mortality, subsequent to endocarditis, was 22% in-hospital and 51% at 1 year. The first 6 months in RRT, aortic valve disease, and previous endocarditis were identified as significant risk factors of endocarditis.ConclusionsPatients receiving RRT have a high incidence of endocarditis, in particular during hemodialysis treatment using central venous catheters. The first 6 months in RRT, aortic valve disease, and previous endocarditis are significant risk factors for developing endocarditis.
| S-EPMC5672968 | biostudies-literature
Project description:Background and objectivesDiet soda consumption is common in the United States and is associated with impaired glucose metabolism, diabetes, and metabolic syndrome.Design, setting, participants, & measurementsWe prospectively analyzed diet soda consumption, assessed by food frequency questionnaire at baseline (1987-1989) and a follow-up examination (1993-1995), and incident ESRD through December 31, 2012 in the Atherosclerosis Risk in Communities study (n=15,368).ResultsBaseline mean age of participants was 54 years, 55% were female, and 27% were black. The majority of participants (43.5%) consumed <1 glass/wk of diet soda; 17.8% consumed 1-4 glasses/wk; 25.3% consumed 5-7 glasses/wk; and 13.5% consumed >7 glasses/wk. Over a median follow-up of 23 years, 357 incident ESRD cases were observed. Relative to <1 glass/wk of diet soda, consuming 1-4 glasses/wk, 5-7 glasses/wk, and >7 glasses/wk, respectively, was associated with 1.08-times (95% confidence interval [95% CI], 0.75 to 1.55), 1.33-times (95% CI, 1.01 to 1.75), and 1.83-times (95% CI, 1.01 to 2.52) higher risk of ESRD after adjusting for age, sex, race-center, education level, smoking status, physical activity, total caloric intake, eGFR, body mass index category, diabetes, systolic BP, and serum uric acid (P value for trend <0.001). Results were similar after additional adjustment for dietary acid load, diet quality, dietary sodium, dietary fructose, sugar-sweetened beverages, and dietary phosphorus. Risk estimates were similar by body mass index category (P value for interaction = 0.82), but the association between diet soda and ESRD was only significant for those who were overweight or obese at baseline. Sugar-sweetened beverage consumption was not significantly associated with ESRD in the fully adjusted model.ConclusionsDiet soda consumption was associated with higher ESRD risk in this general population sample. Further research is necessary to validate these findings in other study populations and to examine potential mechanisms through which diet soda could impact kidney disease.
| S-EPMC5220651 | biostudies-literature