Genetic Association for <i>P2X7R</i> rs3751142 and <i>CARD8</i> rs2043211 Polymorphisms for Susceptibility of Gout in Korean Men: Multi-Center Study

Lee, Sung Won; Lee, Shin Seok; Oh, Dong Ho; Park, Dong Jin; Kim, Hyun Sook; Choi, Jung Ran; Chae, Soo Cheon; Yun, Ki Jung; Chung, Won Tae; Choe, Jung Yoon; Kim, Seong-Kyu

doi:10.3346/jkms.2016.31.10.1566

Cited by 23 publications

(25 citation statements)

References 22 publications

(45 reference statements)

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“…CARD8 has evolved to play a role in the delicate balance of activating and inhibiting signals that determine NLRP3 inflammasome activity. Disturbance of such balance may contribute to the development of inflammatory diseases, which is probably why CARD8 polymorphisms are often associated with risk for arthritic diseases …”

Section: Nlrs Function As Sensors Of Pathogens and Cellular Perturbatmentioning

confidence: 99%

“…Several SNPs in inflammasome‐related gene loci were identified as risk factor for gout, including NLRP3, IL‐1β, and CARD8 (Table ). Moreover, genetic variants of PPARGC1B (peroxisome proliferator‐activated receptor‐y coactivator 1a) that resulted in increased expression of NLRP3 and IL‐1β in PBMCs were significantly associated with gout .…”

Section: Inflammasome In Gouty Arthritismentioning

confidence: 99%

“…Disturbance of such balance may contribute to the development of inflammatory diseases, which is probably why CARD8 polymorphisms are often associated with risk for arthritic diseases. [32][33][34][35][36] Other NLR inflammasomes including the NLRC4 and NLRP12 inflammasome have been linked to autoinflammatory diseases (reviewed in 13 ). Inflammasomopathies are defined as inflammasome-related diseases.…”

Section: Nlr S Fun C Ti On a S S En Sor S Of Pathog En S And Cellulmentioning

confidence: 99%

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Inflammasomes contributing to inflammation in arthritis

Spel

Martinon

2020

Immunological Reviews

117

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Inflammasomes are intracellular multiprotein signaling platforms that initiate inflammatory responses in response to pathogens and cellular damage. Active inflammasomes induce the enzymatic activity of caspase‐1, resulting in the induction of inflammatory cell death, pyroptosis, and the maturation and secretion of inflammatory cytokines IL‐1β and IL‐18. Inflammasomes are activated in many inflammatory diseases, including autoinflammatory disorders and arthritis, and inflammasome‐specific therapies are under development for the treatment of inflammatory conditions. In this review, we outline the different inflammasome platforms and recent findings contributing to our knowledge about inflammasome biology in health and disease. In particular, we discuss the role of the inflammasome in the pathogenesis of arthritic diseases, including rheumatoid arthritis, gout, ankylosing spondylitis, and juvenile idiopathic arthritis, and the potential of newly developed therapies that specifically target the inflammasome or its products for the treatment of inflammatory diseases.

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Section: Nlrs Function As Sensors Of Pathogens and Cellular Perturbatmentioning

confidence: 99%

Section: Inflammasome In Gouty Arthritismentioning

confidence: 99%

Section: Nlr S Fun C Ti On a S S En Sor S Of Pathog En S And Cellulmentioning

confidence: 99%

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Inflammasomes contributing to inflammation in arthritis

Spel

Martinon

2020

Immunological Reviews

117

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“…Finally, we selected four representative common SNPs, rs2043211, rs2288876, rs3745718, and rs10403848, for which the Minor Allele Frequency (MAF) was greater than 0.05 in the HapMap Chinese Han Beijing population. e selection of the CARD8 polymorphism rs2043211, a missense locus, was based on its previous association with autoinflammatory diseases [13,[15][16][17][18][19][20][21][22]. rs2288876 is a synonymous polymorphism, rs3745718 locates on the 3′-untranslated regions, and rs10403848 locates to an intron region.…”

Section: Candidate Snp Selectionmentioning

confidence: 99%

“…Genetic variants of CARD8 are also important in the pathogenesis of a variety of inflammatory diseases [13]. e gene polymorphisms of CARD8 have been associated with several inflammatory and immune diseases, such as rheumatoid arthritis [15,16], Crohn's disease [17], gout [18,19], ankylosing spondylitis [20], and atopic dermatitis [21]. Some authors have proposed that psoriasis is associated with other autoimmune diseases, such as arthritis and Crohn's disease [22].…”

Section: Introductionmentioning

confidence: 99%

A New Risk Polymorphism rs10403848 of CARD8 Significantly Associated with Psoriasis Vulgaris in Northeastern China

Pei

Liu

Hao

et al. 2020

BioMed Research International

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Caspase recruitment domain family member 8 (CARD8) is an adaptor molecule that negatively regulates nuclear factor-κB (NF-κB) activation, interleukin (IL)-1β secretion, and apoptosis. These play important roles in the pathogenesis of psoriasis. Genetic variants of CARD8 have been associated with an increased risk of several inflammatory diseases and psoriasis in Europe. However, nothing is known about the association of the polymorphisms of CARD8 and psoriasis vulgaris (PsV) in the Han population of northeastern China. To investigate the potential association between them, we designed a case-control study to genotype four selected single nucleotide polymorphisms (SNPs) using the improved multiplex ligation reaction (iMLDR) method. Model-based single SNP frequentist-test and haplotype association studies were performed to assess the association between SNPs and PsV. The results showed that the intron SNP rs10403848 was significantly associated with PsV (additive model p=0.0418, p′=0.0411, and statistical power 0.1902; heterozygous model p=0.0418, p′=0.0164, and statistical power 0.9406). A potential risk locus of nonsynonymous SNP rs2043211 found in the European population did not show a significant association in our study. We found that the polymorphism rs10403848 in CARD8 is significantly associated with PsV risk in the Han population of northeastern China. CARD8 may be involved in PsV in this population, as in the European population, but a different genetic process should be considered for the heterogeneity of risk loci.

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P2X7, a critical regulator and potential target for bone and joint diseases

Zeng

Yao

Zhao

2018

Journal Cellular Physiology

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Abundant evidence indicted that P2X7 receptor show a essential role in human health and some human diseases including hypertension, atherosclerosis, pulmonary inflammation, tuberculosis infection, psychiatric disorders, and cancer. P2X7 receptor also has an important role in some central nervous system diseases such as neurodegenerative disorders. Recently, more research suggested that P2X7 receptor also plays a crucial role in bone and joint diseases. But the effect of P2X7 receptor on skeletal and joint diseases has not been systematically reviewed. In this article, the role of P2X7 receptor in skeletal and joint diseases is elaborated. The activation of P2X7 receptor can ameliorate osteoporosis by inducing a fine balance between osteoclastic resorption and osteoblastic bone formation. The activation of P2X7 receptor can relieve the stress fracture injury by increasing the response to mechanical loading and inducing osteogenesis. But the activation of P2X7 receptor mediates the cell growth and cell proliferation in bone cancer. In addition, the activation of P2X7 receptor can aggravate the process of some joint diseases such as osteoarthritis, rheumatoid arthritis, and acute gouty arthritis. The inhibition of P2X7 receptor can alleviate the pathological process of joint disease to some extent. In conclusion, P2X7 receptor may be a critical regulator and therapeutic target for bone and joint diseases.

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Genetic Association for P2X7R rs3751142 and CARD8 rs2043211 Polymorphisms for Susceptibility of Gout in Korean Men: Multi-Center Study

Cited by 23 publications

References 22 publications

Inflammasomes contributing to inflammation in arthritis

Inflammasomes contributing to inflammation in arthritis

A New Risk Polymorphism rs10403848 of CARD8 Significantly Associated with Psoriasis Vulgaris in Northeastern China

P2X7, a critical regulator and potential target for bone and joint diseases

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