摘要
目的:探讨内皮型一氧化氮合酶基因(NOS3)的第4内含子串联重复序列多态性(eNOS4a/b)与原发性高血压患者左心室肥厚的关系.方法:采取病例对照研究,应用PCR技术对高血压患者(2179人,包括1061名左心室肥厚和1118名左心室非肥厚患者)及正常对照人群(812人)进行基因分型,并经测序验证;用"a"表示含有4个串联重复序列的基因型,用"b"表示含有5个串联重复序列的基因型.测量所有病例的超声参数.结果:NOS3的eNOS4a/b基因型频率符合Hardy-Weinberg平衡;a/a、a/b、b/b基因型频率在高血压肥厚、非肥厚患者及正常人群中分布分别为0.7%、12.5%、86.8%;0.5%、10.9%、88.6%和0.6%、12.8%、86.6%.a等位基因频率分别为6.9%、6.0%和7.0%,b等位基因频率分别为93.1%、94.0%和93.1%.各基因型频率与等位基因频率在三组之间无统计学差异(P>0.05).携带不同基因型的患者的临床指标和超声参数均无差异(P>0.05).结论:本研究认为NOS3的eNOS4a/b并不增加高血压继发左心室肥厚的易感性.
Objective：We conducted a study to investigate for possible associations in eNOS gene （NOS3）intron 4 VNTR polymorphism with cardiac hypertrophy in hypertensive patients, and investigated whether eNOS4a/b polymorphism are associated with an increased risk of left ventricular hypertrophy in hypertension. Methods ： We performed a case-control study involving 2179 Chinese hypertensive patients, including 1061 with LVH（left ventrieular hypertrophy） and 1118 without LVH, and 812 controls. The polymorphism of eNOS4afi） in the three groups was detected with polymerase chain reaction assays and confirmed by sequencing. Four and five tandem 27 bp repeats were designated as ＂a＂ and ＂b＂, respectively. Eehoeardiographie measurements were obtained in all patients. Results： No significant differences were found in genotype or in allelic distribution of the aforesaid polymorphisms. There were also no differences in the genotype distribution or allelic frequencies when separately assessing males and females and normal controls. The genotype frequencies were similar between the three groups （P〉0.05）. In addition, no significant association between eNOS4a/b and echocardiographie variables was found in both hypertensive patients with or without LVH and controls （P〉0.05）, including inteFeentricular septal thiekness, septal wall thieknes, posterior wall thickness, LV mass index and relative wall thickness. Conclusion：Endothelial nitric oxide synthase gene intron 4 VNTR polymorphism is not linked with the pathogenesis of LVH in patients with hypertension in Chinese patients. Our data do not support the hypothesis that genetically determined changes in the eNOS gene intron 4 VNTR polymorphism confer increased susceptibility for the development of LVH in patients with hypertension.
出处
《内蒙古民族大学学报（自然科学版）》
2010年第1期87-92,共6页
Journal of Inner Mongolia Minzu University：Natural Sciences
关键词
内皮型一氧化氮合酶
心血管疾病
基因多态性
高血压
左心室肥厚
Endothelial NO synthase
Cardiovascular disease
Gene polymorphism
Hypertension
Left ventricular hypertrophy
