The Association Of Polymorphisms In ENOS Gene With Advanced Coronary Heart Disease In Essential Hypertension In Population Of Chinese GuangXi

The association of polymorphisms in eNOS gene with advanced Coronary Heart Disease in Essential Hypertension in population of Chinese GuangXiObject: To investigate the association between three polymorphisms, namely 894G→T in exon 7,-786T→C in promoter region , a 27-bp VNTR in intron4 in endothelial nitric oxide synthase (eNOS) gene and essential hypertension with coronary heart disease in the population of Chinese GuangXi ,and to study on possible difference at frequencies of alleles and genotypes in the three polymorphisms between Zhuang and Han population of GuangXi.Methods: A case-control study was conducted in 122 patients with essential hypertention(EH) and 96 control subjects .patients were divided into 2 subgroups : EH without CHD (n=60;cases) and EH with CHD(n=66;case) . Genotpyes of both 894G→T and -786T → C polymorphisms were detected by a PCR-RFLP and intron 4 27-bp VNTR polymorphism was identified with a PCR-AFLP . serum NO-x was measured with nitrate reducase method.Result: (1) We couldn't find different frequencies of genotypes and alleles at the three polymorphisms between Zhuang and Han population in GuangXi. (2) 894G→T was associated with EH and EH with CHD, but it was affected by age and sex respectively . the frequencies of genotype (GT+TT) and T-allele in EH with CHD group wassignificantly higher than that in EH without CHD group (P=0.028,P=0.047) in male; Meanwhile, In population above 50 years old, the frequencies of genotype (GT+TT) and T-allele in EH group was significantly higher than control subjects (P=0.031, P=0.04).(3) At promoter -786T-C and intron4 27bp VNTR , there was no difference in genotype or allele frequencies among three groups.(4) comparing among the three groups, the average concentration of serum NOX" in EH with CHD (103±38umol/L) was significantly higher than both that of EH without CHD(64.5±37.1umol/L) and controls(68.5±38.6 umol/L ) .The difference was not significant between EH without CHD and control except that the former was lower.(5) The promoter -786T→C mutation links disequilibriumly with a-allele of intron 4 VNTR.Conclusion: 894G→T may be a genetic predisposal factor for EH in population above 50 years old and for EH and advanced CHD in male EH in GuangXi . Serum NO-x was significantly higher in hypertensive CHD patients than both that in EH without CHD patients and control subjects.