Association analysis of CA repeat polymorphism of the endothelial nitric oxide synthase gene with essential hypertension in Japanese
Association analysis of CA repeat polymorphism of the endothelial nitric oxide synthase gene with essential hypertension in Japanese
复制标题
日本人内皮型一氧化氮合酶基因CA重复多态性与原发性高血压的关联分析
作者：
Tomohiro Nakayama;Masayoshi Soma;Yukie Takahashi;Yoichi Izumi;K. Kanmatsuse;Mariko Esumi
一氧化氮合酶(NOS)基因被认为与高血压(EH)有关，因为NO参与内皮介导的血管扩张。我们调查了日本人群中内皮构成型一氧化氮合酶(CNOS)基因的简单串联重复序列DNA多态性等位基因与EH的可能关联。总共研究了100名EH患者和123名血压正常的受试者。聚合酶链式反应扩增内皮细胞cNOS基因的CA重复序列，根据CA重复序列确定等位基因。比较高血压组和正常血压组的等位基因频率。在这项针对日本受试者的研究中，共鉴定出23个等位基因。两组等位基因频率总体分布差异无统计学意义。然而，比较高血压无左室肥厚组和正常血压组的等位基因频率，总体分布有显著差异(p=0.019)。等位基因33重复频率在高血压无左室肥厚组明显高于正常血压组(p=0.000047，优势比=3.71)。结论：内皮细胞cNOS基因的33个重复等位基因与无左室肥厚的EH相关，可能是日本人EH的遗传标志。
The nitric oxide synthase (NOS) gene is thought to be associated with essential hypertension (EH), because NO is implicated in endothelium‐mediated vasodilation. We investigated the possible association between the alleles of simple tandem repeat DNA polymorphism of the endothelial constitutive NOS (cNOS) gene and EH in Japanese subjects. In all, 100 patients with EH and 123 subjects with normal blood pressure were studied. Polymerase chain reaction was used to amplify the CA repeat site in the endothelial cNOS gene and alleles based on the CA repeat number were determined. The allele frequencies in the hypertensive group and normotensive group were then compared. Twenty‐three alleles were identified in this study of Japanese subjects. The overall distributions of allele frequencies in the two groups were not significantly different. However, comparing the allele frequencies in the EH group without left ventricular hypertrophy (LVH) and the normotensive group, the overall distributions were significantly different (p = 0.019). The 33‐repeat allele was found more frequently in the EH group without LVH than in the normotensive group (p = 0.000047, Odds ratio = 3.71). In conclusion, the 33‐repeat allele of the endothelial cNOS gene is associated with EH without LVH, and may be a genetic marker of EH in Japanese subjects.
正常血压和高血压人群中α2-肾上腺素受体限制性片段长度多态性的频率。
影响因子：
4.9
作者：
Sun,L;Schulte,N;Pettinger,P;Regan,JW;Pettinger,WA
通讯作者：
Pettinger,WA
DOI：
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发表时间：
1994
期刊：
Kidney international. Supplement
影响因子：
--
作者：
Williams,RR;Hunt,SC;Hopkins,PN;Hasstedt,SJ;Wu,LL;Lalouel,JM
通讯作者：
Lalouel,JM