Association of CARD10 rs6000782 and TNF rs1799724 variants with paediatric-onset autoimmune hepatitis

Motawi, Tarek K.; El-Maraghy, Shohda A.; Sharaf, Sahar A.; Said, Salma E.

doi:10.1016/j.jare.2018.10.001

Cited by 12 publications

(6 citation statements)

References 35 publications

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“…We found that the T rs1799724 genotype variant was associated with an increased SSc susceptibility ( p =0.028). A similar strong association was described previously in the case of other autoimmune diseases, including autoimmune hepatitis, Behcet’s or Crohn’s disease, and also cancer [ 38 , 39 , 40 , 41 ]. However, we did not observe an analogous tendency between rs1800629 and rs1799964 polymorphisms and SSc.…”

Section: Discussionsupporting

confidence: 84%

Genetic Association between TNFA Polymorphisms (rs1799964 and rs361525) and Susceptibility to Cancer in Systemic Sclerosis

Kosałka-Węgiel

Lichołai

Dziedzina

et al. 2022

Life

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Tumor necrosis factor (TNF)-α is a proinflammatory cytokine that plays an important role in the pathogenesis of autoimmune diseases. The aim of the study was to establish an association between TNF-α promoter variability and systemic sclerosis (SSc). The study included 43 SSc patients and 74 controls. Four single nucleotide polymorphisms (rs361525, rs1800629, rs1799724, and rs1799964) located at the promoter of the TNFA gene were genotyped using commercially available TaqMan allelic discrimination assays with real-time PCR. The rs1799724 allele was associated with an increased SSc susceptibility (p = 0.028). In turn, none of the polymorphisms studied were related to the clinical and laboratory parameters of SSc patients, except for a higher prevalence of anti-Ro52 antibodies in the AG rs1800629 genotype in comparison to GG carriers (p = 0.04). Three of four cancer patients had both CT rs1799964 and AG rs361525 genotypes; thus, both of them were related to the increased risk of cancer, as compared to the TT (p = 0.03) and GG carriers (p = 0.0003), respectively. The TNFA C rs1799724 variant is associated with an increased risk of SSc, while the CT rs1799964 and AG rs361525 genotypes might enhance cancer susceptibility in SSc patients, although large observational and experimental studies are needed to verify the above hypothesis.

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Section: Discussionsupporting

confidence: 84%

Genetic Association between TNFA Polymorphisms (rs1799964 and rs361525) and Susceptibility to Cancer in Systemic Sclerosis

Kosałka-Węgiel

Lichołai

Dziedzina

et al. 2022

Life

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“…The SNP rs1800629 in TNF is linked to various autoimmune diseases, including CD, celiac disease, RA, and SLE (6,(19)(20)(21). Another SNP in the TNF gene rs1799724 is associated with CD and autoimmune hepatitis (AIH) (22,23). Higher serum levels of TNFα were shown in carriers of the TNF rs1799724 risk genotype, while for the SNP rs1800629, data on an association with elevated TNFα serum levels are inconclusive (6,24).…”

Section: Introductionmentioning

confidence: 99%

Autoimmunity-Related Risk Variants in PTPN22 and CTLA4 Are Associated With ME/CFS With Infectious Onset

et al. 2020

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“…previously conducted a genome-wide survey and first identified the CARD10 polymorphism rs6000782 as a likely risk factor for type1 autoimmune hepatitis (AIH) in Dutch and German populations ( 85 ), which Motawi et al. also concluded with a cohort of Egyptian children ( 86 ). However, these results could not be replicated in a Japanese population ( 87 ).…”

Section: Carma3 Mutations In Non-cancer Diseasesmentioning

confidence: 99%

CARMA3: A potential therapeutic target in non-cancer diseases

Gui

Zhang

et al. 2022

Front. Immunol.

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Caspase recruitment domain and membrane-associated guanylate kinase-like protein 3 (CARMA3) is a scaffold protein widely expressed in non-hematopoietic cells. It is encoded by the caspase recruitment domain protein 10 (CARD10) gene. CARMA3 can form a CARMA3-BCL10-MALT1 complex by recruiting B cell lymphoma 10 (BCL10) and mucosa-associated lymphoid tissue lymphoma translocation protein 1 (MALT1), thereby activating nuclear factor-κB (NF-κB), a key transcription factor that involves in various biological responses. CARMA3 mediates different receptors-dependent signaling pathways, including G protein-coupled receptors (GPCRs) and receptor tyrosine kinases (RTKs). Inappropriate expression and activation of GPCRs and/or RTKs/CARMA3 signaling lead to the pathogenesis of human diseases. Emerging studies have reported that CARMA3 mediates the development of various types of cancers. Moreover, CARMA3 and its partners participate in human non-cancer diseases, including atherogenesis, abdominal aortic aneurysm, asthma, pulmonary fibrosis, liver fibrosis, insulin resistance, inflammatory bowel disease, and psoriasis. Here we provide a review on its structure, regulation, and molecular function, and further highlight recent findings in human non-cancerous diseases, which will provide a novel therapeutic target.

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Association of CARD10 rs6000782 and TNF rs1799724 variants with paediatric-onset autoimmune hepatitis

Abstract: Graphical abstract

Cited by 12 publications

References 35 publications

Genetic Association between TNFA Polymorphisms (rs1799964 and rs361525) and Susceptibility to Cancer in Systemic Sclerosis

Genetic Association between TNFA Polymorphisms (rs1799964 and rs361525) and Susceptibility to Cancer in Systemic Sclerosis

Autoimmunity-Related Risk Variants in PTPN22 and CTLA4 Are Associated With ME/CFS With Infectious Onset

CARMA3: A potential therapeutic target in non-cancer diseases

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