Transforming Growth Factor-β1 Gene C-509T and T869C Polymorphisms as Possible Risk Factors in Rheumatic Heart Disease in Egypt

Kamal, Hanan; Hussein, Gehan; Hassoba, Howayda M.; Mosaad, Nesrin; Gad, Amal; Ismail, Monira Taha

doi:10.1016/j.clim.2010.03.339

Cited by 6 publications

(7 citation statements)

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“…The TGF-B1 gene controls cellular proliferation and is considered to be a possible risk factor for the development of valvular RHD lesions in Egyptian and Taiwan RHD patients [18,19].…”

Section: Innate Immune Response: Tlr-2 [Toll Like Receptor 2] [8] Andmentioning

confidence: 99%

Rheumatic Heart Disease: Key Points on Valve Lesions Development

Guilherme

Köhler²,

Pommerantzeff³

et al. 2012

J Clin Exp Cardiolog

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Rheumatic heart disease lesions are mediated by inflammatory and autoimmune reactions. Several genes related to both innate and adaptive immune responses are involved in the development of the disease. Adhesion molecules and chemokines facilitate heart tissue-T cell infiltration. T lymphocytes are the major effectors of crossreactivity between streptococcal and human proteins leading to RHD. The in vitro analysis of heart-tissue infiltrating T cells showed their ability to recognize streptococcal-M protein peptides as well as self-antigens by molecular mimicry mechanism. A cytokine balance favoring Th1 polarization and production of inflammatory cytokines and few IL-4 producing cells in the valves lead to the progression and maintenance of valvular lesions.

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“…The TGF-B1 gene controls cellular proliferation and is considered to be a possible risk factor for the development of valvular RHD lesions in Egyptian and Taiwan RHD patients [18,19].…”

Section: Innate Immune Response: Tlr-2 [Toll Like Receptor 2] [8] Andmentioning

confidence: 99%

Rheumatic Heart Disease: Key Points on Valve Lesions Development

Guilherme

Köhler²,

Pommerantzeff³

et al. 2012

J Clin Exp Cardiolog

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“…The overexpressed TGF‐β1 plays a role in the fibrosis and dysfunctional heart valves (Jian et al, ). Four studies have investigated polymorphisms in the TGF‐β1 gene (Chou, Chen, et al, ; Gupta et al, ; Kamal et al, ; Sallakci et al, ). Three studies were conducted among RHD cases, while one study was conducted among RF cases.…”

Section: Resultsmentioning

confidence: 99%

“…This is further supported by aberrant differences in cytokine gene expression between rheumatic fever (RF) and RHD patients compared with healthy controls (Guilherme et al, ). Candidate gene studies have also reported associations in genes such as Toll‐like receptor 2 ( TLR‐2 ; Berdeli, Celik, Ozyurek, Dogrusoz, & Aydin, ), tumor necrosis factor alpha ( TNF‐α ; Gupta et al, ), transforming growth factor beta 1 ( TGF‐β1 ; Kamal et al, ), mannose‐binding lectin 2 ( MBL2 ; Schafranski, Pereira Ferrari, Scherner, Torres, & Jensenius, 2008), and mannan‐binding lectin serine protease 2, also known as mannose‐binding protein‐associated serine protease 2 ( MASP2 ; Catarino et al, ).…”

Section: Introductionmentioning

confidence: 99%

Genetic variants in rheumatic fever and rheumatic heart disease

Muhamed

Shaboodien

Engel

2020

American J of Med Genetics Pt C

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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.

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“…This enzyme presents antigens to the T-cell receptor, leading to the recruitment of CD4 þ T cells that recognize antigenic peptides, and activates the adaptive immune response. Other potentially important polymorphisms associated with RHD include signal transducer and activator of transcription (STAT)3, STAT5b, ficolin-2 (FCN2), TNFa and its promoter region, toll-like receptor 2 (TLR)2, IL-10, IL-6, IL-1Ra, MBL, and TGFb1 [45][46][47][48][49][50]. There are several genes that encode proinflammatory cytokines, and the TGFb1 gene encodes a key regulator of fibrosis and calcification.…”

Section: Geneticsmentioning

confidence: 99%