Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
Students' Scientific Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Muscle Nerve. 2021 May;63(5):730-736. doi: 10.1002/mus.27193. Epub 2021 Feb 18.
In this case-control study, we investigated the association between nucleotide oligomerization domain-like receptor family pyrin domain containing 3 (NLRP3) single-nucleotide polymorphisms (SNPs) rs10754558, rs3806265, rs4612666, and rs35829419 and myasthenia gravis (MG).
Samples from MG patients were selected from a previous study conducted in our neuromuscular clinic, which investigated the association between human leukocyte antigen (HLA) class II genes and MG. Genetic data of controls were also available from another study. The NLRP3 SNPs genotyping was performed using the TaqMan method.
A total of 93 blood samples from eligible Iranian patients with MG and 56 samples from healthy controls were obtained. The NLRP3 rs3806265 "C" allele was significantly more frequent in MG patients (P < .001; odd ratio [OR] = 2.33, 95% confidence interval [CI]: 1.4-4.0) than controls. The "CC" genotype of this SNP was found in 18.27% of patients, but none of the controls (P < .001). The distribution of other SNPs was similar between the groups.
These preliminary results suggest that there might be some associations between the NLRP3 gene polymorphism and MG.
在这项病例对照研究中，我们调查了核苷酸寡聚化结构域样受体家族富含吡喃结构域蛋白 3（NLRP3）单核苷酸多态性（SNP）rs10754558、rs3806265、rs4612666 和 rs35829419 与重症肌无力（MG）之间的关联。
从我们神经肌肉诊所进行的一项先前研究中选择了 MG 患者的样本，该研究调查了人类白细胞抗原（HLA）II 类基因与 MG 之间的关联。对照的遗传数据也来自另一项研究。使用 TaqMan 方法对 NLRP3 SNP 进行基因分型。
共获得了 93 份来自符合条件的伊朗 MG 患者和 56 份健康对照者的血液样本。NLRP3 rs3806265“C”等位基因在 MG 患者中明显更为常见（P<0.001；比值比[OR] = 2.33，95%置信区间[CI]：1.4-4.0）。该 SNP 的“CC”基因型在 18.27%的患者中发现，但在对照组中没有（P<0.001）。组间其他 SNP 的分布相似。
这些初步结果表明，NLRP3 基因多态性与 MG 之间可能存在一些关联。
