Browse
Submit Data
Databases
API
Help

Dataset Information

7 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Susceptibility of CTLA-4 -1661A/G polymorphism towards severity of rheumatic heart disease.

ABSTRACT:

Aim

Genetic contribution in acute rheumatic fever (ARF)/rheumatic heart disease (RHD) has been suggested but not according to severity of the valve involvement. This study attempts to identify the relevance of CTLA-4 polymorphism with severity of the disease.

Methods

In a case-control design, 291 healthy controls and 83 patients were genotyped for association between RHD and single-nucleotide polymorphisms -1661A/G of CTLA-4.

Results

Segregation of patients on the basis of severity i.e., MVL (Mitral Valve Lesion) and CVL (Combined Valve Lesion) revealed that the frequency of CTLA-4 -1661G allele depleted as the disease progressed to CVL (p < 0.05). Patients in the age group of 31-45 years were significantly more susceptible (p < 0.046). Whereas, female patients were more susceptible than the male patients.

Conclusion

Our study suggests the risk associated with decreased frequency of CTLA-4 -1661G allele in the CVL group and in females.

SUBMITTER: Bansal A

PROVIDER: S-EPMC8424281 | biostudies-literature |

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Similar Datasets

Rheumatic Heart Disease Severity, Progression and Outcomes: A Multi-State Model.

Project description:BackgroundRheumatic heart disease (RHD) remains a disease of international importance, yet little has been published about disease progression in a contemporary patient cohort. Multi-state models provide a well-established method of estimating rates of transition between disease states, and can be used to evaluate the cost-effectiveness of potential interventions. We aimed to create a multi-state model for RHD progression using serial clinical data from a cohort of Australian patients.Methods and resultsThe Northern Territory RHD register was used to identify all Indigenous residents diagnosed with RHD between the ages of 5 and 24 years in the time period 1999-2012. Disease severity over time, surgeries, and deaths were evaluated for 591 patients. Of 96 (16.2%) patients with severe RHD at diagnosis, 50% had proceeded to valve surgery by 2 years, and 10% were dead within 6 years. Of those diagnosed with moderate RHD, there was a similar chance of disease regression or progression over time. Patients with mild RHD at diagnosis were the most stable, with 64% remaining mild after 10 years; however, 11.4% progressed to severe RHD and half of these required surgery.ConclusionsThe prognosis of young Indigenous Australians diagnosed with severe RHD is bleak; interventions must focus on earlier detection and treatment if the observed natural history is to be improved. This multi-state model can be used to predict the effect of different interventions on disease progression and the associated costs.

| S-EPMC5523987 | biostudies-literature

MBL2 gene polymorphism rs1800450 and rheumatic fever with and without rheumatic heart disease: an Egyptian pilot study.

Project description:Rheumatic fever (RF) is the result of an autoimmune response to pharyngitis caused by infection with Streptococcus pyogenes. RF is most prevalent in Africa and the Middle East. Rheumatic heart disease (RHD) is the most serious complication of RF. Mannose-binding lectin 2 gene (MBL2) has been reported to be correlated with different cardiac conditions. In Egyptian patients as a new studied ethnic population, it is the first time to evaluate the association between MBL2 gene polymorphism rs1800450 and RF with and without RHD.One hundred and sixty RF patients (80 with RHD and 80 without RHD) and eighty healthy ethnically matched controls were studied. MBL2 (rs1800450) was genotyped by real-time PCR using TaqMan® allele discrimination assay. The MBL level was measured by ELISA. Westergren erythrocytes sedimentation rate (ESR), anti-streptolysin O titer (ASOT), C-reactive protein (CRP) and complements (C3 and C4) were determined.The AA genotype with high production of MBL was associated with increased risk of RHD more than the B allele carrying subjects. However, MBL2 genotype related to the low production of MBL was more frequently observed in those patients without RHD.Our results suggested the involvement of MBL2 (rs1800450) polymorphism and its protein in RHD pathogenesis. Also, it might be a promising future strategy to utilize this polymorphism to help differentiate patients with RHD from those without RHD.

| S-EPMC5899397 | biostudies-literature

Profiling system-wide variations between Acute Rheumatic Fever and Rheumatic Heart Disease

Project description:Rheumatic heart disease (RHD) continues to affect developing countries with low income, due to the lack of resources and effective diagnostic techniques. Understanding the genetic basis of progression from its prequel disease state, acute rheumatic fever (ARF), would aid in developing predictive biomarkers and improving patient care. To gain system-wide molecular insights into possible causes for progression, we collected blood transcriptomes from ARF (5) and RHD (5) patients. Using an integrated transcriptome and network analysis, we identified a subnetwork comprising the most significantly differentially expressed genes and most perturbed pathways in RHD as compared to ARF. For example, the chemokine signaling pathway was seen to be upregulated while tryptophan metabolism was found to be downregulated in RHD. The subnetworks of variation between the two conditions provide unbiased molecular-level insights into the host processes that may be associated with the progression of ARF to RHD, which has the potential to inform future diagnostics and therapeutic strategies. We also found significantly raised neutrophil/lymphocyte ratio in both ARF and RHD cohorts. Activated neutrophils and inhibited NK cell gene signatures reflected the drivers of the inflammatory process being common to both the disease conditions.

2022-07-29 | GSE209591 | GEO

Association between CTLA-4 rs231775 polymorphism and hepatocellular carcinoma susceptibility.

Project description:Our study aimed to investigate the association of cytotoxic T-lymphocyte antigen-4 (CTLA-4) rs231775 polymorphism with hepatocellular carcinoma (HCC) susceptibility.Genotypes distribution of the control was tested by Hardy-Weinberg Equilibrium (HWE). CTLA-4 rs231775 polymorphism was analyzed in 80 patients with HCC and 78 healthy controls by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, and the expression level of CTLA-4 in the serum of all subjects was detected using enzyme linked immunosorbent assay (ELISA) kit. Odd ratio (OR) with 95% confidence interval (CI) were calculated by chi-squared test to determine the correlation of CTLA-4 rs231775 polymorphism and the risk of HCC.The genotypes frequencies of the control group were in accordance with HWE. The frequencies of genotype AA and allele A in CTLA-4 rs231775 polymorphism were significantly higher in cases than the control group (AA vs. GG: OR=2.81, P=0.043; A vs. G: OR=1.63, P=0.022). Meanwhile, the expression level of CTLA-4 was remarkably higher in cases compared with the controls. The association analysis indicated that AA genotype carriers exhibited highest level of CTLA-4 (P<0.01).The genotype AA and allele A of CTLA-4 rs231775 polymorphism may have negative effects on HCC by modifying the expression and functions of CTLA-4.

| S-EPMC4713639 | biostudies-literature

Investigating genetic susceptibility to rheumatic heart disease in Oceania

Project description:This case-control study investigated susceptibility to rheumatic heart disease in over 3,000 individuals recruited across eight Oceanian countries. Cases were patients with rheumatic heart disease and controls were members of the general population. In addition to the Illumina HumanCore-24 BeadChip genotyping, a subset of 128 samples were analysed using the higher density Illumina HumanOmniExpressExome BeadChip of which 64 were also analysed using low coverage sequencing with the Illumina HiSeq 4000 platform.

| EGAS00001001881 | EGA

The Human Leukocyte Antigen Locus and Rheumatic Heart Disease Susceptibility in South Asians and Europeans.

Project description:Rheumatic heart disease (RHD), an autoinflammatory heart disease, was recently declared a global health priority by the World Health Organization. Here we report a genome-wide association study (GWAS) of RHD susceptibility in 1,163 South Asians (672 cases; 491 controls) recruited in India and Fiji. We analysed directly obtained and imputed genotypes, and followed-up associated loci in 1,459 Europeans (150 cases; 1,309 controls) from the UK Biobank study. We identify a novel susceptibility signal in the class III region of the human leukocyte antigen (HLA) complex in the South Asian dataset that clearly replicates in the Europeans (rs201026476; combined odds ratio 1.81, 95% confidence intervals 1.51-2.18, P = 3.48×10-10). Importantly, this signal remains despite conditioning on the lead class I and class II variants (P = 0.00033). These findings suggest the class III region is a key determinant of RHD susceptibility offering important new insight into pathogenesis while partly explaining the inconsistency of earlier reports.

| S-EPMC7265443 | biostudies-literature

The clinical value of ficolin-3 gene polymorphism in rheumatic heart disease. An Egyptian adolescents study.

Project description:ObjectiveFicolin-3 is one of the innate immunity molecules that was thought to play a pivotal role in Streptococcus pyogenes autoimmunity and its complications; rheumatic fever (RF) and rheumatic heart disease (RHD). We aimed to disclose if there is an association between ficolin-3 (FCN3) gene polymorphisms (rs4494157 and rs10794501) and RF with or without RHD for the first time in Egyptian adolescents.ResultsSerum ficolin-3 level was significantly elevated in patients suffering from RF with and without RHD in comparison with control. Regarding FCN3 gene (rs4494157) polymorphism, a significant correlation was found between the A allele and the susceptibility to RF with or without RHD (OR = 2.93, P = 0.0002 and OR = 2.23, P = 0.008 respectively). Besides, AA homozygous genotype showed a significant association with RHD risk (OR = 3.47, P = 0.026). Patients carrying the A allele (CA + AA) had significantly higher serum ficolin-3 than those carrying the CC genotype (P ˂ 0.0001). While the frequency of (rs10794501) polymorphism revealed no significant differences between the controls and RF patients with or without RHD (OR = 1.43, P = 0.261 and OR = 1.48, P = 0.208 respectively).

| S-EPMC7836457 | biostudies-literature

Tumor necrosis factor-alpha 308G>A polymorphism and risk of rheumatic heart disease: a meta-analysis.

Project description:Rheumatic heart disease (RHD) remains a serious cardiovascular disorder across the world. Tumor necrosis factor alpha (TNF-α) codifies a potent immunomodulator and pro-inflammatory cytokine that mediates diverse pathological processes. A promoter 308G>A polymorphism in TNF-α has been implicated in RHD risk. However, the results remain controversial. Therefore, to evaluate more precise estimations of the relationship, a meta-analysis was performed. A total of 7 studies including 735 RHD cases and 926 controls were involved in this meta-analysis. Overall, our results revealed that there was a significant association with RHD risk in three genetic models (homozygous model: OR = 3.06, 95%CI = 1.22-10.60, P = 0.020; dominant model, OR = 2.03, 95%CI = 1.01-4.07, P = 0.048; and recessive model, OR = 4.26, 95%CI = 2.41-7.55, P < 0.001). Further ethnic population analysis found a significantly increased risk of RHD among Asians and Europeans. Interestingly, similar results were found among hospital-based studies. Begg's funnel plot and Egger's test did not reveal any publication bias. Taken together, this meta-analysis demonstrates that the TNF-α 308G>A polymorphism is associated with RHD susceptibility, and it contributes to the increased risk of RHD. However, additional well-designed studies with larger samples are warranted to confirm these findings.

| S-EPMC3994435 | biostudies-literature

Acute rheumatic fever and rheumatic heart disease in Victoria, 2006-18.

Project description: Not available

| S-EPMC9303429 | biostudies-literature

Genome-scale analysis of DNA methylation in rheumatic heart disease

Project description:The aim of the current study is to identify DNA methylation markers associated with rheumatic heart disease with secondary pulmonary arterial hypertension (RHD-PAH). Genome-wide DNA methylation study is performed among 6 RHD-PAH patients and 6 healthy controls using Illumina HumanMethylation 450K array.

2016-07-06 | E-GEOD-84003 | biostudies-arrayexpress

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data