Correlation between single nucleotide polymorphisms of multi-loci and multi-genes and myasthenia gravis / 中华神经科杂志

ABSTRACT

Objective To investigate the association between myasthenia gravis (MG) and single nucleotide polymorphisms (SNPs) of PTPN22 + 1858C/T,CTLA-4 (+ 49A/G;-1772C/T;-1661A/G),KRAS(rs9226),BCL2(rs4987855) and IGF-1R(rs34804698) genes.Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was adopted to detect the gene types of SNPs in 76 MG patients who were enrolled in the Second Affiliated Hospital of Harbin Medical University from July 2011 to June 2015 and 59 healthy blood donors.Results In MG patients,the frequences of CTLA-4 +49A/G(rs231775) (57.9％) and-1772C/T (rs733618) (43.4％) were higher than that in the healthy controls (22.1％) (x2 =35.252,P =0.000; x2 =4.098,P =0.043).The frequence of CTLA-4 +49A/G in MG patients combined with thymoma (25.6％) was higher than other subgroups (thymic hyperplasia group13.8％; normal thymus group18.4％)(x2 =7.564,P=0.006; x2 =7.155,P=0.007).Meanwhile,the frequence of the C-1772 allele was higher in thymoma group (19.7％) compared with other two groups (thymic hyperplasia group9.86％ ; normal thymus group13.8％) (x2 =5.331,P =0.021 ;x2 =4.411,P =0.036).However,the other SNPs were not associated with the risk of MG.Conclusion There are associations of MG with CTLA-4 + 49A/G and-1772C/T SNPs,but not with PTPN,KRAS,BC12 and IGF-1R SNPs.