Department of Endocrinology, Shandong Provincial Hospital, Shandong University, Jinan, Shandong 250021, P.R. China.
Mol Med Rep. 2013 Jun;7(6):1761-6. doi: 10.3892/mmr.2013.1429. Epub 2013 Apr 12.
The aim of the present study was to investigate the association between genetic variants in 17 tagSNPs of the NLRP3 gene and the susceptibility to primary gouty arthritis. A genotype-phenotype analysis of 480 primary gout and 480 control patients was performed. Samples from all the patients were collected from The Affiliated Hospital of Medical College (Qingdao, China). Seventeen tagSNPs of the NLRP3 gene were amplified using polymerase chain reaction (PCR) and MassARRAY technology was used for single nucleotide polymorphism (SNP) genotyping. The genetic frequency of rs7512998 was significantly different between the gout and control patients (P<0.05), whereas no significant differences were identified for the remaining SNPs. The 17 SNPs conformed to the Hardy-Weinberg equilibrium (HWE) in the control group (P>0.05). The haplotype association among the 17 SNPs of the NLRP3 gene indicated that no individual SNP was significantly associated with primary gouty arthritis. CTATCAGCGCCCAGTGC was the most common haplotype in the case and control groups, with a frequency of 0.224 and 0.243, respectively. However, the odds ratios (ORs) of the 8 haplotypes were not identified to be significantly associated with gouty arthritis (P>0.05 for all the 8 haplotypes). To the best of our knowledge, this is the first study to investigate the association between SNPs of the NLRP3 gene and the risk of primary gouty arthritis, although no significant association was identified. Further clinical studies and functional analysis are required to explore the potential associations between NLRP3 gene polymorphisms and the risk of primary gouty arthritis.
本研究旨在探讨 NLRP3 基因 17 个标签 SNP 与原发性痛风性关节炎易感性的关系。对 480 例原发性痛风和 480 例对照患者进行了基因型-表型分析。所有患者的样本均来自医科大学附属医院（中国青岛）。采用聚合酶链反应（PCR）扩增 NLRP3 基因的 17 个标签 SNP，采用 MassARRAY 技术进行单核苷酸多态性（SNP）基因分型。rs7512998 的遗传频率在痛风组和对照组之间有显著差异（P<0.05），而其余 SNP 则无显著差异。17 个 SNP 在对照组中符合 Hardy-Weinberg 平衡（HWE）（P>0.05）。NLRP3 基因的 17 个 SNP 的单体型关联表明，没有单个 SNP 与原发性痛风性关节炎显著相关。在病例组和对照组中，CTATCAGCGCCCAGTGC 是最常见的单体型，频率分别为 0.224 和 0.243。然而，8 种单体型的优势比（ORs）并未被确定与痛风性关节炎显著相关（所有 8 种单体型的 P>0.05）。据我们所知，这是首次研究 NLRP3 基因 SNP 与原发性痛风性关节炎风险之间的关联，尽管没有发现显著关联。需要进一步的临床研究和功能分析来探讨 NLRP3 基因多态性与原发性痛风性关节炎风险之间的潜在关联。
