IL10 Promoter Polymorphisms are Associated with Rheumatic Heart Disease in Saudi Arabian Patients

Abdallah, Atiyeh M.; Alnuzha, Aisha; Almazroea, Abdulhadi; El-Dardear, Amr; AlSamman, Ala Y.; Almohammadi, Yousef; Al-Harbi, Khalid M.

doi:10.1007/s00246-015-1245-y

Cited by 12 publications

(11 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The patient and control cohorts are described in previous studies ( 15 , 16 ). Briefly, diagnosis was made according to the modified Jones criteria at initial diagnosis and confirmed by echocardiography ( 29 ).…”

Section: Methodsmentioning

confidence: 99%

Impact of MIF Gene Promoter Variations on Risk of Rheumatic Heart Disease and Its Age of Onset in Saudi Arabian Patients

Abdallah¹,

Almazroea

Alharbi

et al. 2016

Front. Immunol.

Self Cite

View full text Add to dashboard Cite

Although macrophage migration inhibitory factor (MIF) has consistently been shown to be an important immune modulator, data on the association between MIF promoter variations and the risk of developing rheumatic heart disease (RHD) remain inconclusive. RHD is an important complication of streptococcal infections in the Middle East, not least in Saudi Arabia, and identifying risk markers is an important priority. Therefore, we investigated the association between two functional MIF promoter variations and RHD susceptibility and severity in Saudi patients: the MIF-173G > C substitution (rs755622) and the MIF-794 CATT5–8 tetranucleotide repeat (rs5844572). Three hundred twenty-six individuals (124 RHD patients and 202 age-, sex-, and ethnically matched healthy controls) were genotyped using allelic discrimination and fragment analysis. Data were analyzed with respect to disease susceptibility, severity, sex, and age of onset. There was a significantly lower frequency of 173C allele carriage in RHD patients compared to controls [odds ratio (OR) = 0.47; 95% confidence intervals (CIs) = 0.28–0.77; p = 0.003]. Interestingly, the 173C allele was associated with late disease onset (p = 0.001). The 794 5-repeat allele was associated with decreased RHD risk (OR = 0.56; 95% CIs = 0.38–0.82; p = 0.003). In contrast, the 794 6-repeat allele was associated with increased risk of RHD (OR = 1.7; 95% CIs = 1.2–2.5; p = 0.002). MIF promoter variations appear to have a dual role in RHD, with 173C allele non-carriers at higher risk of developing RHD at a younger age. These results require further validation in larger multi-ethnic cohorts, and functional studies are necessary to understand the underlying molecular mechanisms driving the at-risk phenotype.

show abstract

Section: Methodsmentioning

confidence: 99%

Impact of MIF Gene Promoter Variations on Risk of Rheumatic Heart Disease and Its Age of Onset in Saudi Arabian Patients

Abdallah¹,

Almazroea

Alharbi

et al. 2016

Front. Immunol.

Self Cite

View full text Add to dashboard Cite

show abstract

“…Pooled analysis of five studies reporting on the IL‐10 ‐1082G>A (rs1800896) showed no association between RHD in 638 cases and 690 healthy controls (Muhamed, Engel, Shaboodien, Pare, & Mayosi, ). Among the five studies, two studies from Egypt and Saudi Arabia found an association between the IL‐10 (‐1082G>A, rs1800896) SNP and RHD (Abdallah, Alnuzha, et al, ; Settin et al, ), contrary to four studies from Pakistan, Egypt, and Indian (Gupta et al, ; Poomarimuthu et al, ; Rehman et al, ; Yousry et al, ).…”

Section: Resultsmentioning

confidence: 93%

Genetic variants in rheumatic fever and rheumatic heart disease

Muhamed

Shaboodien

Engel

2020

American J of Med Genetics Pt C

View full text Add to dashboard Cite

Genetic association studies in rheumatic heart disease (RHD) have the potential to contribute toward our understanding of the pathogenetic mechanism, and may shed light on controversies about RHD etiology. Furthermore, genetic association studies may uncover biomarkers that can be used to identify susceptible individuals, and contribute toward developing vaccine and novel therapeutic targets. Genetic predisposition to rheumatic fever and RHD has been hypothesized by findings from familial studies and observed associations between genes located in the human leukocyte antigens on chromosome 6p21.3 and elsewhere in the genome. We sought to summarize, from published Genetic association studies in RHD, evidence on genetic variants implicated in RHD susceptibility. Using HuGENet™ systematic review methods, we evaluated 66 studies reporting on 42 genes. Existing meta‐analyses of candidate gene studies suggest that TGF‐β1 [rs1800469], and IL‐1β [rs2853550] single nucleotide polymorphisms (SNPs) contribute to susceptibility to RHD, whereas the TNF‐α [rs1800629 and rs361525], TGF‐β1 [rs1800470 and rs4803457], IL‐6 [rs1800795], IL‐10 [rs1800896] were not associated with RHD. However, candidate gene studies in RF/RHD are relatively small, thus lacking statistical power to identify reliable and reproducible findings, emphasizing the need for large‐scale multicenter studies with different populations.

show abstract

“…A total of 96 articles were retrieved, after layer by layer screening, the final 3 case control studies were included [ 28 – 30 ], including three English literatures and 0 Chinese literatures. A total of 318 patients with rheumatic heart disease and 502 control subjects, literature screening process and results are shown in Figure 1 .…”

Section: Resultsmentioning

confidence: 99%

“…Related research [ 43 , 44 ] pointed out that the increase of IL-10 expression in the serum of patients with rheumatic heart disease is closely related to the occurrence and progression of the disease, and with the increase of the level of IL-10 expression, the worse the prognosis, the higher the mortality rate. Abdallah [ 30 ] study showed that the effect of IL-10 on the role of 1082G/A in patients with rheumatic heart disease is related to the single nucleotide polymorphisms (SNPs) in the gene promoter region. GG+GA gene polymorphism significantly increases the incidence of rheumatic heart disease in the population, AA gene polymorphism significantly reduces the incidence of rheumatic heart disease in the population, but the conclusion is still not uniform.…”

Section: Discussionmentioning

confidence: 99%

Meta-analysis of the relationship between single nucleotide polymorphism of IL-10-1082G/A and rheumatic heart disease

Dai

Lü

et al. 2018

Oncotarget

View full text Add to dashboard Cite

BackgroundThe results showed that there was a certain correlation between the single nucleotide polymorphism of IL-10-1082G/A and rheumatic heart disease, but there was no systematic study to verify this conclusion.AimsSystematic review of the association between single nucleotide polymorphism of IL-10-1082G/A locus and rheumatic heart disease.Materials and MethodsComputer retrieval PubMed, EMbase, Cochrane Library, CBM, CNKI, VIP and Data WanFang, the retrieval time limit from inception to June 2017. A case control study of single nucleotide polymorphisms and rheumatic heart disease in patients with rheumatic heart disease in the IL-10-1082G/A was collected. Two researchers independently screened the literature, extracted data and evaluated the risk of bias in the study, and using RevMan5.3 software for data analysis.ResultsA total of 3 case control studies were included, including 318 patients with rheumatic heart disease and 502 controls. Meta-analysis showed that there was no correlation between IL-10-1082G/A gene polymorphism and rheumatic heart disease [AA+AG VS GG: OR = 0.62, 95% CI (0.28, 1.39), P = 0.25; AA VS AG+GG: OR = 0.73, 95% CI (0.54, 1.00), P = 0.05; AA VS GG: OR = 0.70, 95% CI(0.47, 1.05), P = 0.08; AG VS GG: OR = 0.65, 95% CI (0.22, 1.92), P = 0.43; A VS G: OR = 0.87, 95% CI (0.71, 1.06), P = 0.17].ConclusionsWhen AA is a recessive gene, the single nucleotide polymorphism of IL-10-1082G/A is associated with the presence of rheumatic heart disease. Due to the limitations of the quantity and quality of the included literatures, the further research results were still needed.

show abstract

IL10 Promoter Polymorphisms are Associated with Rheumatic Heart Disease in Saudi Arabian Patients

Cited by 12 publications

References 34 publications

Impact of MIF Gene Promoter Variations on Risk of Rheumatic Heart Disease and Its Age of Onset in Saudi Arabian Patients

Impact of MIF Gene Promoter Variations on Risk of Rheumatic Heart Disease and Its Age of Onset in Saudi Arabian Patients

Genetic variants in rheumatic fever and rheumatic heart disease

Meta-analysis of the relationship between single nucleotide polymorphism of IL-10-1082G/A and rheumatic heart disease

Contact Info

Product

Resources

About