Genotyping and differential expression analysis of inflammasome genes in sporadic malignant melanoma reveal novel contribution of CARD8, IL1B and IL18 in melanoma susceptibility and progression

Silva, Wanessa Cardoso da; Oshiro, Telma Miyuki; Sá, Daniel Coelho de; Franco, Dilcilea D.G.S.; Neto, Cyro Festa; Pontillo, Alessandra

doi:10.1016/j.cancergen.2016.09.004

Cited by 23 publications

(11 citation statements)

References 43 publications

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“…The ClinVar database describes no common CARD8 genetic variants or confirmed functional variants. In the literature, several CARD8 SNPs were investigated in only one study, while rs6509365 was evaluated more frequently [21][22][23][24][25]. This intron variant was associated with melanoma and susceptibility to tuberculosis [21,23,25].…”

Section: Discussionmentioning

confidence: 99%

Genetic Variability in Antioxidative and Inflammatory Pathways Modifies the Risk for PCOS and Influences Metabolic Profile of the Syndrome

et al. 2020

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Polycystic ovary syndrome (PCOS) is a complex endocrine and metabolic disorder of multifactorial etiopathology likely to involve the interactions between genetics and lifestyle. Chronic inflammation and oxidative stress (OS) may participate in the pathophysiology of the syndrome. The question of the extent to which OS and inflammation are causally related to the development of the syndrome and metabolic complications remains unanswered. By our knowledge, the role of the NLR family pyrin domain containing 3 (NLRP3) inflammasome as an important trigger of inflammatory pathways and NLRP3 and CARD8 polymorphisms has never been addressed in PCOS yet. We conducted a case-control study conducting of total 169 Slovenian PCOS patients and 83 healthy blood donors. They were genotyped for polymorphisms in antioxidative (SOD2 rs4880, CAT rs1001179, PON1 rs854560, and rs662) and inflammatory pathways genes (NLRP3 rs35829419, CARD8 rs2043211, TNF rs1800629, IL1B rs1143623, and rs16944, IL6 rs1800795) using competitive allele-specific polymerase chain reaction (PCR). Logistic regression and the Mann–Whitney test were used in the statistical analysis. SOD2 rs4880, CARD8 rs2043211, and IL1B rs16944 were associated with the risk of developing PCOS. Furthermore, the interactions between CARD8 rs2043211 and IL6 rs1800795 and between IL1B rs1143623 and IL6 rs1800795 also significantly affected the risk for PCOS. With regard to glucose homeostasis, CAT rs1001179, SOD2 rs4880, PON1 rs854560, NLRP3 rs35829419, and TNF rs1800629 were significantly associated with response to the glycemic load. Our data indicate that the genetic variability in the antioxidative and inflammatory pathways influences the development of PCOS and glucose homeostasis in PCOS patients.

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Section: Discussionmentioning

confidence: 99%

Genetic Variability in Antioxidative and Inflammatory Pathways Modifies the Risk for PCOS and Influences Metabolic Profile of the Syndrome

et al. 2020

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“…The SNP rs2043211 of CARD8 changes cysteine at codon10 to a premature termination codon, thus yielding a premature, truncated protein, which influences the protein function [38]. So far, more and more researches proved that the CARD8 SNP was associated with the increased risk of various cancers, such as nodular melanoma, hepatocellular carcinoma, and cervical cancer [38–40]. In our study, we found that the AT genotype of CARD8-C10X (rs2043211) was associated with the increased risk of MM.…”

Section: Discussionmentioning

confidence: 99%

The Genetic Polymorphisms of NLRP3 Inflammasome Associated with T Helper Cells in Patients with Multiple Myeloma

Zhao

Hua

Yan

et al. 2018

Journal of Immunology Research

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The pathogenesis of multiple myeloma (MM) remains unclear and the NLRP3 inflammasome has been more and more recognized in the progression of many diseases. To investigate the role of the NLRP3 inflammasome in MM, we determined the genetic polymorphisms and expression of NLRP3 inflammasome-related genes (IL-1β, IL-18, CARD8, and NF-κB) in MM patients, and explored their clinical relevance. Furthermore, we investigated the relationship of the NLRP3 inflammasome with Th cells in MM. Our study showed that the CARD8-C10X (rs2043211) AT genotype contributed to the susceptibility of MM. CARD8-C10X TT patients had earlier clinical stage. The WBC count in the three CARD8 genotypes showed an increasing trend (AA

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“…It is activated by numerous physical and chemical stimuli (33), including asbestos. In response to a variety of pathogens and/or danger-associated molecular patterns, the NLRP3 inflammasome activates caspase-1, which results in IL-1 secretion and consequently inflammatory response (33,35). It has been shown that the secretion of IL-1 from alveolar macrophages induced by asbestos is mediated through the NLRP3 inflammasome (21,23).…”

Section: Introductionmentioning

confidence: 99%

NLRP3 and CARD8 polymorphisms influence risk for asbestos-related diseases

Franko¹,

Goričar²,

Kovač³

et al. 2019

Journal of Medical Biochemistry

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Summary Background This study aimed to investigate the association between NLRP3 rs35829419 and CARD8 rs2043211 polymorphisms and the risk of developing pleural plaques, asbestosis, and malignant mesothelioma (MM), and to study the influence of the interactions between polymorphisms and asbestos exposure on the risk of developing these diseases. Methods The case-control study included 416 subjects with pleural plaques, 160 patients with asbestosis, 154 subjects with MM and 149 subjects with no asbestos disease. The NLRP3 rs35829419 and CARD8 rs2043211 polymorphisms were determined using real-time PCR-based methods. In the statistical analysis, standard descriptive statistics was followed by univariate and multivariate logistic regression modelling. Results Asbestos exposure (medium and high vs low) was associated with the risk for each studied asbestos-related disease. An increased risk of pleural plaques was found for CARD8 rs2043211 AT + TT genotypes (OR = 1.48, 95% CI 1.01–2.16, p = 0.042). When the analysis was performed for MM patients as cases, and pleural plaques patients as controls, a decreased MM risk was observed for carriers of CARD8 rs2043211 TT genotype (OR = 0.52, 95% CI 0.27–1.00, p = 0.049). The interactions between NLRP3 rs35829419 and CARD8 rs2043211 genotypes did not influence the risk of any asbestos-related disease. However, when testing interactions with asbestos exposure, a decreased risk of asbestosis was found for NLRP3 CA+AA genotypes (OR = 0.09, 95% CI 0.01–0.60, p = 0.014). Conclusions The results of our study suggest that NLRP3 and CARD8 polymorphisms could affect the risk of asbestos-related diseases.

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Genotyping and differential expression analysis of inflammasome genes in sporadic malignant melanoma reveal novel contribution of CARD8, IL1B and IL18 in melanoma susceptibility and progression

Cited by 23 publications

References 43 publications

Genetic Variability in Antioxidative and Inflammatory Pathways Modifies the Risk for PCOS and Influences Metabolic Profile of the Syndrome

Genetic Variability in Antioxidative and Inflammatory Pathways Modifies the Risk for PCOS and Influences Metabolic Profile of the Syndrome

The Genetic Polymorphisms of NLRP3 Inflammasome Associated with T Helper Cells in Patients with Multiple Myeloma

NLRP3 and CARD8 polymorphisms influence risk for asbestos-related diseases

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