J Clin Neurol.  2007 Sep;3(3):133-138. 10.3988/jcn.2007.3.3.133.

CCR2-64I and CCR5Delta32 Polymorphisms in Korean Patients with Myasthenia Gravis

• Kim HS
• Kim DS
• Lee EY
• Sunwoo IN
• Choi YC

• KMID: 2135491
• DOI: http://doi.org/10.3988/jcn.2007.3.3.133

Abstract

BACKGROUND AND PURPOSE
Chemokines participate in the regulation of immune and inflammatory responses by interacting with their receptors, which are primarily expressed on immune and inflammatory cells such as B- and T-lymphocytes and antigen-presenting cells. Chemokines and their receptors are therefore considered to mediate inflammation and tissue damage in autoimmune disorders. Chemokine receptor (CCR) genotypes were recently identified, and the importance of their genetic polymorphisms in some autoimmune and infectious disorders has been demonstrated. To define the roles of the polymorphism of the CCR2 gene at codon 64 (CCR2-64I) and the 32-bp deletion in the coding region of CCR5 (CCR5Delta32) in Korean patients with myasthenia gravis (MG), we compared these genotypes in MG cases and healthy controls and investigated the clinical features associated with these genotypes.
METHODS
One hundred and fifteen healthy controls (51 men and 64 women) and 109 MG patients (44 men and 65 women) from three University hospitals were included. We examined each patient for clinical features using electrophysiology tests, laboratory tests, and thymic pathology. The CCR2-64I and CCR5Delta32 polymorphisms were determined by the PCR-RFLP method.
RESULTS
We detected no difference in the frequencies of CCR2-64I polymorphism between MG patients and healthy controls. All of the MG patients and the healthy controls were homozygous for the wild-type CCR5 genotype. The results of electrophysiological tests and thymic pathologies were not influenced by the type of CCR2-64I polymorphism. However, the anti-acetylcholine-receptor (AChR) antibody titer was higher in the CCR2 G/G genotype (13.34+/-12.71 nmol/L) than in the CCR2 A/A genotype (5.83+/-2.56 nmol/L).
CONCLUSIONS
We found no evidence of an increased risk for MG associated with the CCR2-64I and CCR5Delta32 polymorphisms. However, the increased anti-AChR antibody titer in the patients with the CCR2 G/G genotype suggests that the CCR2 gene play a role in the pathophysiology of MG.

Keyword

Myasthenia gravis; Chemokine receptor; CCR2-64I; CCR5Delta32; Anti-AChR antibody titer

MeSH Terms

Antigen-Presenting Cells
Chemokines
Clinical Coding
Codon
Electrophysiology
Genotype
Hospitals, University
Humans
Inflammation
Male
Myasthenia Gravis*
Pathology
Polymorphism, Genetic
T-Lymphocytes
Chemokines
Codon

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