Correlations of STAT3 and STAT4 gene polymorphisms with myasthenia gravis susceptibility
10.3760/cma.j.cn115354-20240827-00509
- VernacularTitle:STAT3和 STAT4基因多态性与重症肌无力易感性的关系研究
- Author:
Hui DENG
1
;
Jianjian WANG
;
Xiaotong KONG
;
Yuan YAN
Author Information
1. 哈尔滨医科大学第二附属医院神经内科,哈尔滨 150001
- Keywords:
Myasthenia Gravis;
Single nucleotide polymorphism;
STAT gene;
iMLDR assay
- From:
Chinese Journal of Neuromedicine
2024;23(10):1012-1020
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the correlations of myasthenia gravis (MG) susceptibility with STAT3 (rs744166 and rs1053005) and STAT4 (rs7574865) gene polymorphisms. Methods:A total of 149 MG patients admitted to Department of Neurology, Second Affiliated Hospital of Harbin Medical University from September 2019 to June 2022 were selected as MG group, and 148 subjects accepted physical examination in our hospital at the same period were selected as control group. Peripheral venous blood of all subjects was collected. Improved multiplex ligation detection reaction (imLDR) assay was used to detect the STAT3 (rs744166 and rs1053005) and STAT4 (rs7574865) gene polymorphisms. Differences in polymorphisms of various gene loci were compared between the MG group and control group, among subjects with different gender or age, between MG patients with and without thymoma, between AChR-Ab positive and AChR-Ab negative MG patients, and between patients with eye muscle MG and systemic MG. Results:(1) Compared with the control group, the MG group had significantly increased GT and TT genotype and T allele frequencies (37.2% vs. 57.0%; 10.1% vs. 11.4%; 28.7% vs. 39.9%), and decreased GG genotype and G allele frequencies (52.7% vs. 31.5%; 71.3% vs. 60.1%) at rs7574865 locus in STAT4 gene ( P<0.05). (2) Compared with male subjects in the control group, the male patients in MG group had significantly increased GT and TT genotype and T allele frequencies, and decreased GG genotype and G allele frequencies at rs7574865 locus in STAT4 gene ( P<0.05); compared with female subjects in the control group, the female patients in MG group had significantly increased GT and TT genotype frequencies and decreased GG genotype frequency at rs7574865 locus in STAT4 gene ( P<0.05). Compared with subjects≤50 years old in the control group, patients≤50 years old in the MG group had significantly increased GT and TT genotype and T allele frequencies, and decreased GG genotype and G allele frequencies at rs7574865 locus in STAT4 gene ( P<0.05); compared with subjects>50 years old in the control group, patients>50 years old in the MG group had significantly increased GT genotype frequency and decreased GG and TT genotype frequencies at rs7574865 locus in STAT4 gene ( P<0.05). (3) No significant differences in genotype and allele frequencies were noted between MG patients with and without thymoma, between AChR-Ab positive and AChR-Ab negative MG patients, or between patients with eye muscle MG and systemic MG ( P>0.05). Conclusion:MG susceptibility is associated with rs7574865 polymorphism of STAT4 gene; the male subjects or subjects≤50 years old with GT/TT genotype or T allele are susceptible to MG.