Correlation between single nucleotide polymorphisms of multi-loci and multi-genes and myasthenia gravis
10.3760/cma.j.issn.1006-7876.2016.04.010
- VernacularTitle:重症肌无力与多基因多位点单核苷酸多态性的相关性研究
- Author:
Xiaotong KONG
;
Lihua WANG
;
Jianjian WANG
;
Xue SHAN
;
Qian LI
;
Huixue ZHANG
- Publication Type:Journal Article
- Keywords:
Myasthenia gravis;
Polymorphism,single nucleotide;
CTLA-4 antigen;
Polymerase chain reaction;
Polymorphism,restriction fragment length
- From:
Chinese Journal of Neurology
2016;49(4):307-311
- CountryChina
- Language:Chinese
-
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 group:13.8％; normal thymus group:18.4％)(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 group:9.86％ ; normal thymus group:13.8％) (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.
