Laboratorio de Líquido Sinovial, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra Ibarra", Mexico City, Mexico.
Biology Department, Facultad de Química, Universidad Nacional Autónoma de México (UNAM), Mexico City, Mexico.
Mol Biol Rep. 2022 Nov;49(11):10205-10215. doi: 10.1007/s11033-022-07895-z. Epub 2022 Sep 3.
HLA and NLRP3 play an important role in the development of various autoimmune and autoinflammatory diseases. Gout is an autoinflammatory disease associated with multiple genetic and environmental factors. The objective of the present study was to evaluate the interaction and association between genetic polymorphisms of HLA-B and the NLRP3 gene in Mexican patients with gout.
Eighty-one patients with gout were included and compared with 95 healthy subjects. The polymorphisms rs4349859, rs116488202, rs2734583 and rs3099844 (within the HLA-B region) and rs3806268 and rs10754558 of the NLRP3 gene were genotyped using TaqMan probes in a Rotor-Gene device. The interactions were determined using the multifactorial dimensionality reduction (MDR) method, while the associations were determined through logistic regression models. The MDR analysis revealed significant interactions between the rs116488202 and rs10754558 polymorphisms with an entropy value of 4.31% (p < 0.0001). Significant risk associations were observed with rs4349859 and rs116488202 polymorphisms (p < 0.01); however, no significant associations were observed with the polymorphisms of the NLRP3 gene.
The results suggest that HLA-B polymorphisms and their interaction with NLRP3 may contribute to the genetic susceptibility of gout.
HLA 和 NLRP3 在各种自身免疫和自身炎症性疾病的发展中起着重要作用。痛风是一种与多种遗传和环境因素相关的自身炎症性疾病。本研究的目的是评估 HLA-B 基因和 NLRP3 基因的遗传多态性在墨西哥痛风患者中的相互作用和关联。
纳入 81 例痛风患者，并与 95 例健康对照进行比较。采用 TaqMan 探针在 Rotor-Gene 设备上对 HLA-B 区域内的 rs4349859、rs116488202、rs2734583 和 rs3099844 以及 NLRP3 基因的 rs3806268 和 rs10754558 多态性进行基因分型。采用多因子降维（MDR）方法确定相互作用，采用逻辑回归模型确定关联。MDR 分析显示 rs116488202 和 rs10754558 多态性之间存在显著的相互作用，熵值为 4.31%（p<0.0001）。rs4349859 和 rs116488202 多态性与显著的风险关联（p<0.01）；然而，NLRP3 基因的多态性与无显著关联。
结果表明，HLA-B 多态性及其与 NLRP3 的相互作用可能导致痛风的遗传易感性。
