Background: Oxysterol binding protein-related protein 9 (ORP9) may be related to the pathogenesis of cerebral infarction since it is closely related with glucose and lipid metabolism. The present study was designed to investigate the genetic relationship between ORP9 gene polymorphisms and cerebral infarction (CI) in Hunan Han population.
Methods: Total 544 cerebral infarction patients (60.0 ± 10.3 years) and 284 healthy controls (59.0 ± 9.5 years) were enrolled. Sociodemographic and clinical data of the subjects, such as age, gender, body mass index, smoking, drinking, diabetes mellitus, hypertension, systolic and diastolic blood pressures, fasting blood glucose, triglycerides, total cholesterol, low-density and high-density lipoprotein were recorded, and two single-nucleotide polymorphisms (SNPs) of ORP9 gene including rs856600 and rs768529 with high mutation annotation format (MAF) values of 0.103 and 0.485 were studied by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
Results: No statistical difference was observed in allele distributions and frequencies of the two SNPs between control and CI groups. However, the percentage of atherosclerosis in CI group was significantly higher than that in the control group (p < 0.001). The frequencies of the TT genotype and T allele of rs768529 were significantly higher in patients with vulnerable plaque than those in patients with stable plaque (p < 0.001, p = 0.002). Logistic association analysis showed no correlations between cerebral infarction and different alleles (p > 0.05).
Conclusion: T allele of rs768529 may be a risk factor for the formation of the carotid vulnerable plaque in Chinese Hunan Han population.