脳梗塞の危険因子としてのβ2-glycoprotein I遺伝子多型

抄録

β2-Glyoprotein I (β2-GPI) is the most responsible antigen for antiphospholipid antibodies. At the DNA level, 4 different types of allelic polymorphism have been detected in β2-GPI. Position 247 allele is composed of either Valine (V) or Leucine (L), resulting in genotype expression of VV, VL, or LL. We investigated frequencies of either V or L presented at position 247 allele in patients with cerebral infarction. Relationships between the genotypes of β2-GPI gene and patient characteristics were studied.
Method
The DNA segment containing the position 247 polymorphism was amplified by the semi-nested polymerase chain reaction (PCR), and the polymorphism was detected by restriction endonuclease digestion. DNA samples from 103 patients with cerebral infarction and 98 healthy individuals (control) were analyzed.
Results
V allele and VL genotype were more frequent in patients with cerebral infarction than in normal control (32% vs 46%, p=0.040). VL genotype was more frequent among patients ≤ 60 years than those aged>60 years (58% vs 37%, p<0.005) .The mean values of b-thromboglobulin and platelet factor 4 in patients with VL genotype were significantly higher than those with LL genotype (p=0.019, p=0.014).
Conclusion
Results suggested that Valine247 β2GPI allele is one of the genetic risk factors for development of cerebral infarction.