Interleukin-1β-31 (rs1143627) genetic variant and the risk of age-related macular degeneration in the Brazilian population

Makita, Lana Sayuri; Muniz, Bernardo Carvalho; Roque, Alicia Buffoni; Bajano, Flávia Fialho; Hirata, Fábio Endo; Amaral, Marcelo Rubens dos Santos do; Rim, Priscila Hae Hyun; Carvalho-Siqueira, Gabriela Queila de; Vasconcellos, José Paulo Cabral de; Melo, Mônica Barbosa de; Medina, Flávio Mac Cord

doi:10.1080/13816810.2021.1929337

Cited by 2 publications

(1 citation statement)

References 24 publications

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“…Several studies explored the association between the promoter region of the gene at position -31 (C / C, rs1143627) allelic variations and IL1β-31. Some of them conclude diseases susceptibility (14,15). In 1992, early studies investigated IL-1RA gene polymorphism at intron 2 site and five allele polymorphism was discovered as copies of 86-bp sequence.…”

Section: Introductionmentioning

confidence: 99%

Assessment of IL-1B31 and IL RA gene Polymorphism in Immune Thrombocytopenia

diab

kamal

Behairy

et al. 2023

Benha Medical Journal

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Background: Primary immune thrombocytopenia (ITP) is one of the most common autoimmune diseases characterized by low platelet count resulting from increased platelet destruction and impaired platelet production. The pathophysiology of ITP remains understood, and the study of polymorphism in different cytokine coding genes is important to understating the pathophysiology of the disease. This study aimed to evaluate the association between IL1β-31 and IL-1RA gene polymorphism in ITP. Subjects and methods: this is a case-control study conducted on 50(30 children and 20 adults) ITP patients and 60 age and sex-matched healthy controls. Genotyping of IL1β-31and IL-1RA gene polymorphism was performed using Restriction Fragment Length Polymorphism (RFLP-PCR) and detection of variable number tandem repeats. Results: the present study showed a significant association between IL1β-31 and IL-1RA gene polymorphism and ITP development. The mutant homozygous and heterozygous IL1β-31 and IL-1RA genotype and the mutant allele showed higher frequency compared to the control group and are associated with ITP susceptibility (odd ratio >1), pvalue (<0.05) for both. In addition, our results showed a significant association between IL1β-31and IL-1RA gene polymorphism and ITP severity as well as resistance to steroid treatment. However, no association was found with the onset of the disease. Conclusion: IL1β-31and IL-1RA gene mutant types are associated with an increased risk of ITP susceptibility. Additionally, they were associated with a severe type of disease and no response to steroid treatment.

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Section: Introductionmentioning

confidence: 99%

Assessment of IL-1B31 and IL RA gene Polymorphism in Immune Thrombocytopenia

diab

kamal

Behairy

et al. 2023

Benha Medical Journal

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Therapeutic Potential of AAV2-shmTOR Gene Therapy in Reducing Retinal Inflammation and Preserving Endothelial Integrity in Age-Related Macular Degeneration

Kim,

Moon,

Kang

et al. 2024

Preprint

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Age-related macular degeneration (AMD) is a prevalent retinal disorder that leads to central vision loss, mainly due to chronic inflammation. Tumor necrosis factor-alpha (TNF-α) is a critical mediator of inflammatory responses within the retinal environment. This study has investigated TNF-α's influence on inflammatory cytokine production and endothelial barrier integrity in human microglial (HMC3) and endothelial (HUVEC) cells. We found that TNF-α significantly elevated the expression and secretion of interleukin-6 (IL-6) and interleukin-1β (IL-1β) in HMC3 cells and disrupted endothelial tight junctions in HUVECs, as evidenced by weakened ZO-1 staining and compromised barrier function. To mitigate these effects and further investigate the in vitro mechanism of actions in CRG-01’s in vivo therapeutic efficacy of anti-inflammation, we employed AAV2-shmTOR, CRG-01, as the candidate for therapeutic vector targeting the mammalian target of the rapamycin (mTOR) pathway. TNF-α-induced IL-6, IL-1β, and NF-κB signaling in HMC3 cells were significantly reduced by AAV2-shmTOR treatment, which may present a promising avenue for the fight against AMD. It also effectively preserved endothelial tight junction integrity in TNF-α-treated HUVECs, providing reassurance about its effectiveness. Furthermore, the supernatant medium collected from AAV2-shmTOR-treated HMC3 cells decreased oxidative stress, protein oxidation, and cytotoxicity in ARPE retinal pigment epithelial cells. These results strongly suggested that CRG-01, the candidate therapeutic vector of AAV2-shmTOR, may have a therapeutic potential to treat AMD-related retinal inflammation.

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Interleukin-1β-31 (rs1143627) genetic variant and the risk of age-related macular degeneration in the Brazilian population

Cited by 2 publications

References 24 publications

Assessment of IL-1B31 and IL RA gene Polymorphism in Immune Thrombocytopenia

Assessment of IL-1B31 and IL RA gene Polymorphism in Immune Thrombocytopenia

Therapeutic Potential of AAV2-shmTOR Gene Therapy in Reducing Retinal Inflammation and Preserving Endothelial Integrity in Age-Related Macular Degeneration

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