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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: To investigate the relationship between eNOS4a / b and left ventricular hypertrophy in patients with essential hypertension.Methods: A case-control study (2179 people, including 1061 patients with left ventricular hypertrophy and 1118 patients with left ventricular hypertrophy) and normal controls (812 persons) were genotyped by PCR and verified by sequencing. “Indicates the genotype containing 4 tandem repeats and” b "indicates the genotype containing 5 tandem repeats. The ultrasound parameters were measured in all cases.Results: The frequencies of eNOS4a / b genotypes in NOS3 were in accordance with Hardy-Weinberg The frequencies of a / a, a / b and b / b genotypes were 0.7%, 12.5%, 86.8%, 0.5%, 10.9%, 88.6% and 0.6% respectively in hypertensive hypertensive patients, non-hypertrophic patients and normal controls %, 12.8%, 86.6% .A allele frequency was 6.9%, 6.0% and 7.0%, b allele frequencies were 93.1%, 94.0% and 93.1% .The genotype frequency and allele frequency in There was no significant difference between the three groups (P> 0.05) .There was no significant difference in clinical parameters and ultrasound parameters between patients with different genotypes (P> 0.05) .Conclusion: Studies suggest that NOS3 of eNOS4a / b does not increase susceptibility to hypertension secondary to left ventricular hypertrophy.