Association study of the endothelial nitric oxide synthase gene polymorphisms with essential hypertension in northern Han Chinese
- Author:
- No author available
- Journal Title:
- CHINESE MEDICAL JOURNAL
- Issue:
- 13
- DOI:
- No doi available
- Key Word:
- case-control studies;endothelial nitric oxide synthase;haplotype;hypertension;single nucleotide polymorphism
Abstract： Background Nitric oxide (NO) synthesized by endothelial nitric oxide synthase (eNOS) plays an important role in both the regulation of endothelial function and the control of blood pressure. Up to now, there has been conflicting data regarding the association between three clinically relevant polymorphisms (T-786C, intron4b/a and G894T) of the eNOS gene and essential hypertension.Methods To examine the contribution of the three eNOS gene polymorphisms to the development of hypertension in the northern Han Chinese, a case-control study including 503 hypertensive cases and 490 age-,gender-, and area-matched controls recruited from the International Collaborative Study of Cardiovascular Disease in Asia (InterASIA) was conducted. Genotyping was performed by polymerase chain reaction (PCR) or PCR-restriction fragment length polymorphism (RFLP).Results The T-786C and intron4b/a polymorphisms were observed in significant linkage disequilibrium (D'=0.87, P＜0.001). The minor allele frequencies of these three polymorphisms in healthy controls were much lower than those of Caucasians (9.3% vs 39.6%-42.0%, 8.9% vs 15.0%- 16.0% and 10.9% vs 34.5%-34.9%for -786C, intron4a and 894T, respectively). Genotype distributions and allele frequencies of the three polymorphisms did not differ between cases and controls (all P ＞ 0.05). In addition, none of the eight estimated haplotypes significantly increased or decreased the risk of hypertension before or after adjustment for several known risk factors.Conclusion The study results suggest that the three eNOS gene polymorphisms are unlikely to be major genetic susceptibility factors for essential hypertension in the northern Han Chinese population.
- [1]Yoshimura M,Kuwahara K,Kishimoto I,etc.Lack of association between T-786-->C mutation in the 5'-flanking region of the endothelial nitric oxide synthase gene and essential hypertension.[J].2000,23(6).
- [2]M, Nakayama,H, Yasue,M, Yoshimura,etc.T-786-->C mutation in the 5'-flanking region of the endothelial nitric oxide synthase gene is associated with coronary spasm.[J].1999,99.
- [3]Tanus-Santos JE,Flockhart DA,Desai M.Effects of ethnicity on the distribution of clinically relevant endothelial nitric oxide variants.[J].2001,11(8).
- [4]P L, Huang,Z, Huang,H, Mashimo,etc.Hypertension in mice lacking the gene for endothelial nitric oxide synthase.[J].1995,377(6546).
- [5]Patrick Vallance,Joe Collier,Salvador Moncada.Effects of Endothelium-Derived Nitric Oxide on Peripheral Arteriolar Tone in MAN[J].1989,334(8670).
- [6]Forte P,Milne E,Sutherland J,etc.Basal nitric oxide synthesis in essential hypertension.[J].1997,349(9055).
- [7]W G, Haynes,J P, Noon,B R, Walker,etc.Inhibition of nitric oxide synthesis increases blood pressure in healthy humans.[J].1993,11.
- [8]Gautier S,Cambien F,Pannier B,etc.Nitric oxide synthase gene polymorphisms, blood pressure and aortic stiffness in normotensive and hypertensive subjects.[J].1998,16(1).
- [9]Jian, Wang,Donald, Dudley,Xing Li, Wang.Haplotype-specific effects on endothelial NO synthase promoter efficiency: modifiable by cigarette smoking.[J].2002,22.
- [10]Yamori Y,Sugiyama T,Kato N,etc.Lack of evidence for association between the endothelial nitric oxide synthase gene and hypertension.[J].1999,33(4).
- [11]Kimura T,Yoshiike N,Muramatsu M,etc.NOS3 genotype-dependent correlation between blood pressure and physical activity.[J].2003,41(2).
- [12]Hamanaka I,Saito Y,Azuma N,etc.Endothelial nitric oxide synthase gene is positively associated with essential hypertension.[J].1998,32(1).
- [13]Gu D,Reynolds K,Wu X,etc.Prevalence, awareness, treatment, and control of hypertension in china.[J].2002,40(6).
- [14]Cascorbi I,Schluter C,Volzke H,etc.Endothelial nitric oxide synthase Glu298Asp gene polymorphism, blood pressure and hypertension in a general population sample.[J].2005,23(7).
- [15]Sham P,Hassan A,Bamford J,etc.Endothelial nitric oxide gene haplotypes and risk of cerebral small-vessel disease.[J].2004,35(3).
- [16]Yamauchi R,Mannami T,Katsuya T,etc.Association analyses between genetic polymorphisms of endothelial nitric oxide synthase gene and hypertension in Japanese: The Suita Study.[J].2001,19(11).