Correlation between AT1R gene polymorphism and epilepsy secondary to cerebral infarction.

Abstract

To explore the correlation between angiotensin II type 1 receptor (AT1R) gene polymorphism and epilepsy secondary to cerebral infarction and its significance for the diagnosis of this disease. A total of 200 patients with epilepsy secondary to cerebral infarction were enrolled from our hospital as observation group, and 200 patients without epilepsy after cerebral infarction as control group. Genomic deoxyribonucleic acids (DNAs) were extracted from the peripheral blood of the subjects, and the polymorphic regions at AT1R gene loci rs380400, rs1799870, rs12721273, and rs55707609 were amplified via polymerase chain reaction (PCR) and sent to the company for sequencing. The concentration of farnesyl diphosphate synthase (FDPS) was determined using enzyme-linked immunosorbent assay (ELISA) kit, and activated partial thromboplastin time (APTT) and prothrombin time (PT) were measured in the Laboratory Department. There were no differences in the allele distributions at AT1R gene loci rs380400 (p=0.070), rs179987 (p=0.0.280), and rs55707609 (p=0.046), but in the allele distribution at rs12721273 (p=0.001) between control group and observation group, and observation group exhibited a significantly lower frequency of allele G in cerebral infarction patients than control group [153 (0.383) vs. 198 (0.495)]. The frequency of genotype GT at rs12721273 was lower [71 (0.355)] and that of genotype TT was evidently higher [88 (0.440)] in observation group (p=0.000). Control group showed a notably lower frequency of genotype AA [47 (0.235)] and a markedly higher frequency of genotype AT [110 (0.550)] at rs55707609 (p=0.000). Observation group exhibited a substantially lower frequency of recessive model AG+GG [128 (0.640)] (p=0.037), and a notably higher frequency of homozygous model AA [72 (0.360)] (p=0.048) at AT1R gene locus rs380400, a remarkably lower frequency of dominant model GG+GT [112 (0.560)] (p=0.002) at rs12721273, and a significantly lower frequency of recessive model AT+TT [126 (0.630)] (p=0.000) and a considerably lower frequency of heterozygous model AT [84 (0.420)] (p=0.026) at rs55707609. The frequencies of AT1R gene haplotypes ACGA (p=0.001), ACGT (p=0.045), ACTT (p=0.000), ATTT (p=0.048), GCTA (p=0.000), and GTGA (p=0.005) in observation group were distinctly higher than those in control group, and the frequencies of the haplotypes ACTA (p=0.000) and ATTA (p=0.029) were evidently lower than those in control group. The loci rs12721273 and rs1799870 showed a significant association (D'=0.783), and APTT was considerably correlated with genotype AG at rs380400 (p=0.042), PT with genotype CC at rs1799870 (p=0.002) and FDPS with genotype AA at rs55707609 (p=0.015). The polymorphisms of AT1R gene loci rs380400, rs1799870, rs12721273, and rs55707609 are correlated with the susceptibility to epilepsy secondary to cerebral infarction.