炎性体基因多态性与痛风易感性。有联系吗?

Denise Clavijo-Cornejo, Alberto López-Reyes, Esteban Cruz-Arenas, Leonor Jacobo-Albavera, Daniel Rivera-Tlaltzicapa, Adriana Francisco-Balderas, Mayra Domínguez-Pérez, Pablo Romero-Morelos, Janitzia Vázquez-Mellado, Luis H Silveira, Carlos Pineda, Gabriela Martínez-Nava, Marwin Gutierrez
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引用次数: 1

摘要

背景:痛风疾病的炎症反应是由IL-1β释放介导的NLR家族pyrin domain-containing 3 (NLPR3)信号通路激活引起的。目的:本研究的目的是确定NLRP3炎症小体基因内的单核苷酸多态性(snp)与痛风易感性之间的关系。方法:选取墨西哥国家康复研究所和墨西哥总医院的痛风患者。另外还包括一个健康对照组。我们分析了NLRP3炎症小体信号通路中来自7个不同基因的8个snp的频率和等位基因分布:TLR4 rs2149356、CD14 rs2569190、NLRP3 rs3806268、NLRP3 rs10754558、CARD8 rs2043211、IL-1β rs1143623、P2RX7 rs3751142和PPARGC1B rs45520937 snp。结果:我们发现PPARGC1B SNP rs45520937与痛风发病风险相关(优势比[OR] = 2.30;95%置信区间[CI]: 1.09-4.86;p = 0.030),并提出在加性模型下,适配器分子CD14 rs2569190多态性可能与较低的痛风风险相关(OR= 0.41;95% CI: 0.16-1.05;P = 0.064)。其余snp未发现显著相关性。结论:我们的研究结果提示PPARGC1B rs45520937 SNP与痛风易感性相关。
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Inflammasome genes polymorphisms and susceptibility to gout. Is there a link?

Background: The inflammatory response in gout disease is induced by the activation of NLR family pyrin domain-containing 3 (NLPR3) signaling pathway mediated by IL-1β release.

Objective: The objective of the study was to determine the association between single nucleotide polymorphisms (SNPs) within NLRP3 inflammasome genes and gout susceptibility.

Methods: Mexican patients with gout from the National Rehabilitation Institute and General Hospital of Mexico were enrolled. A healthy control group was also included. We analyzed the frequency and allelic distribution of eight SNPs from seven different genes within the NLRP3 inflammasome signaling pathway: TLR4 rs2149356, CD14 rs2569190, NLRP3 rs3806268, NLRP3 rs10754558, CARD8 rs2043211, IL-1β rs1143623, P2RX7 rs3751142, and PPARGC1B rs45520937 SNPs.

Results: We found that the SNP rs45520937 of PPARGC1B was associated with the risk of developing gout when it was analyzed using the dominant model (Odds ratio [OR] = 2.30; 95% confidence interval [CI]: 1.09-4.86; p = 0.030), and it is proposed that the adaptor molecule CD14 rs2569190 polymorphism could be associated with a lower risk of gout under an additive model (OR= 0.41;95% CI: 0.16-1.05; p = 0.064). No significant associations were identified for the remaining SNPs.

Conclusion: Our findings suggest that the PPARGC1B rs45520937 SNP is associated with gout susceptibility.

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来源期刊
CiteScore
3.00
自引率
0.00%
发文量
60
审稿时长
>12 weeks
期刊介绍: The Revista de Investigación Clínica – Clinical and Translational Investigation (RIC-C&TI), publishes original clinical and biomedical research of interest to physicians in internal medicine, surgery, and any of their specialties. The Revista de Investigación Clínica – Clinical and Translational Investigation is the official journal of the National Institutes of Health of Mexico, which comprises a group of Institutes and High Specialty Hospitals belonging to the Ministery of Health. The journal is published both on-line and in printed version, appears bimonthly and publishes peer-reviewed original research articles as well as brief and in-depth reviews. All articles published are open access and can be immediately and permanently free for everyone to read and download. The journal accepts clinical and molecular research articles, short reports and reviews. Types of manuscripts: – Brief Communications – Research Letters – Original Articles – Brief Reviews – In-depth Reviews – Perspectives – Letters to the Editor
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