Relationship Between Stroke And Its Related Gene Polymorphisms

Stroke is one of the most notorious diseases that are hazardous to the health and the life of human being. In the Western world, stroke remains the third cause of mortality apart from heart disease and malignant tumors, and its incidence rate is 300—500/100 000. While in China, stroke is the first cause of mortality, and its incidence rate is 120—180/100 000, its mortality is 80—120/100 000. Many traditional cardiovascular risk factors have involved in the pathogenesis of stroke. Blood pressure, the plasma level of cholesterol, and cigarette smoking are the most important factors. Other minor factors include old age, alcohol abuse, hyperglycemia, and sodium intake, et al. However, many people with above described risks are free of stroke. This suggests that some other factors may be related to the pathogenesis of stroke, especially the genetic factors.To elucidate the effect of genetic factors on the pathogenesis of stroke, we performed a case-control study on the relationship between stroke and its related gene polymorphisms by molecular biological techniques. The candidate alleles are T833C (Ile278Thr) polymorphism of cystathonine β-synthase (CBS) gene, C677T polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, A(-948)G, C(-690)T and G894T (Glu298Asp) polymorphisms of endothelial nitric oxide synthase (NOS3) gene, insertion/deletion (I/D) polymorphism of angiotensin 1-converting enzyme (ACE) gene, A1166C polymorphism of type-1 angiotensin II receptor (ATHR-1) gene, T704C (Met235Thr) polymorphism of angiotensinogen (AGT) gene, G19A (Val7Met) and T2238C plymorphisms of atrial natriuretic peptide (ANP) gene, G614T (Gly460Trp) polymorphism of α-adducin gene, T1477A (Trp493Arg) and A1987G (Thr663Ala) polymorphisms of a subunit epithelial sodium channel (ENaCa) gene, C825T polymorphism of G-protein beta 3 subunit (GNB3) gene, A46G (Argl6Gly) and C76G (Gln27Glu) polymorphisms of β₂-adrenergic receptor (ADRB2) gene, 5A/6A polymorphism in the promoter of stromelysin-1 (STMY1) gene.Results showed that the proportion of GG homozygotes and the frequency of G19 allele were both statistically higher in cases than those in controls. GG genotype conferred an odds ratios for stroke of 1.524 (95%CI: 1.047—2.218). The incidence rate in GG homozygotes was higher than the 19A carriers and general population by 19.89% and 18.47% respectively. This suggests that the G19 allele in ANP gene may be a genetic risk factor for stroke in Chinese population of Beijing City. In addition, no differences were found between other candidate alleles and stroke.