Objective: To investigate the association of 5'TCCCCC3' insertion polymorphism in intron7 and the C1096G allele gene with the risk of cerebral stroke in Chinese population.
Methods: Peripheral blood samples were collected from 1414 Chinese patients with cerebral hemorrhage (n = 376), infarction (n = 629) or lacunar infarction (n = 409) selected from 7 clinical centers in China and 1376 controls Single nucleotide polymorphism (SNP) at the position 1096 was genotyped with polymerase chain reaction (PCR) and restriction fragment length polymorphism assay. PCR and polyacrylamide gel electrophoresis were used to examine the insertion/deletion polymorphism in 187 cases of cerebral stroke and 190 controls.
Results: The frequency of allele G at nucleotide 1096 of the cerebral stroke patients was 13.5%, not significantly different from that of the controls (13.3%, chi(2) = 0.827, P = 0.352). There were not significant differences in the distribution of GG and GC genotypes among the patients with cerebral hemorrhage, infarction, and lacunar infarction respectively and the controls. In the 187 cases and 190 controls, only 2 cases of heterozygote of the insertion sequence were found with a frequency of 0.003.
Conclusion: The SNP at the position 1096 of the Endoglin gene and insertion/deletion polymorphism in 5'TCCCCC3' of intron 7 are not the risk factors of cerebral stroke in Chinese population.