| Objective:To evaluate the relationship of four single nucleotide polymorphisms(SNPs) (G-152A,A-20C,C-18T,A-6G)and their haplotypes of angiotensinogen(AGT)Gene to essential hypertension and essential hypertension complicated by brain infarction in HaiNan's Li nation.Method:By polymerase chain reaction combining DNA sequencing analysis,we detected the polymorphisms and haplotypes of of angiotensinogen(AGT)at position G-152A, A-20C,C-18T,A-6G in the promoter region in 100 essential hypertension complicated by brain infarction patients,100 essential hypertension and 100 control subjects from HaiNan's Li nation.Association of each polymorphism with essential hypertension and complicated by brain infarction were analyzed in this case essential hypertension -control study.Results:(1)There were nucleotide substitutions of core promoter of the AGT gene.The nucleotide substitutions were as follows:A→G at -152 locus,C→A at -20 locus,T→C at -18 locus, G→A at -152 locus,respectively.(2)The distribution of genotypes of AGT -152(AA,AG,GG)and alleles(A,G)frequencies showed no significant difference among essential hypertension,essential hypertension complicated by brain infarction and healthy controls.(3)The distribution of genotypes of AGT -20(CC,AC,AA)and alleles(C,A)frequencies showed no significant difference among essential hypertension,essential hypertension complicated by brain infarction and healthy controls.(4)The distribution of genotypes of AGT- 18(TT,CC)and alleles(C)frequencies showed no significant difference among essential hypertension,essential hypertension complicated by brain infarction and healthy controls.The frequencies of CT genotype and T allele were significantly higher in essential hypertension and essential hypertension complicated by brain infarction than in healthy controls.(5)The frequencies of G allele were significantly higher in essential hypertension complicated by brain infarction than in healthy controls;the distribution of genotype of AGT -6(GG,GA,AA)frequencies showed no significant difference between healthy controls and patients.(6)Among the individual SNP pairs examined,the A-20C,C-18T,A-6G and G-152A;C-18T and A-6G are nearly completely disequilibrium.(7)Haplotype analysis revealed that H5 Haplotype frequency,which included -20C and -18T, was significantly increased in the group of EH(P=0.006)and H6 Haplotype frequency,which included -20C and 6G,was significantly increased in the group of essential hypertension complicated by brain infarction(P=0.003).Conclusions:(1)There are G-152A,A-20C,C-18T,A-6G variants in the promoter region of AGT gene in HaiNan's Li nation.(2)(-18)C-T polymorphism of AGT gene might be associated with occurrence of essential hypertension and essential hypertension complicated by brain infarction in Li nation.The frequencies of(-6)G carrier might play an important role in the occurrence of essential hypertension complicated by brain infarction.The results suggest that the polymorphism of core promoter of the AGT gene may be involved in the pathogenesis of essential hypertension complicated by brain infarction in HaiNan's Li nation.(3)The haplotype H5(-20C and -18T)of AGT gene might be a genetic risk factor for essential hypertension and the haplotype H6(-20C and -6G)might be a genetic risk factorfor essential hypertension complicated by brain infarction in HaiNan's Li nation. |
