Association between Val/Leu247 polymorphism of apolipoprotein H and cerebral infarction in a Chinese population

Background Antiphospholipid antibodies (aPL) are considered to be a cause of an acquired hypercoagulable state leading to cerebral infarction (CI). Apolipoprtein H (apoH) is an important target antigen for aPL and thus apoH polymorphisms may influence aPL production and the development of CI. The purpose of this study was to identify associations between the Val/Leu²⁴⁷ polymorphism of apoH gene and CI in a Chinese cohort. Methods This study comprised 130 CI patients and 100 healthy control subjects. Polymorphism assignment was determined by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique and DNA sequencing. The presence of aPL was detected by ELISA utilizing irradiated ELISA plates. Results Our results demonstrated an association between the Val/Leu²⁴⁷ polymorphism of apoH gene and aPL in CI patients. The frequency of V allele was significantly higher in aPL-positive CI patients compared with control group (χ² = 6.864, P < 0.05). VL genotype frequency was also significantly higher in aPL-positive CI group compared with control group (χ² = 13.879, P < 0.05) and aPL-negative CI group (χ² = 5.567, P < 0.05). Conclusions The Val²⁴⁷ allele of apoH gene is significantly associated with the presence of aPL in Chinese patients with CI.