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色氨酸64精氨酸β3-肾上腺素能受体基因多态性与撒丁岛人群原发性高血压的关联

Association of Trp64Arg beta 3-adrenergic-receptor gene polymorphism with essential hypertension in the Sardinian population.

作者信息

Tonolo G, Melis M G, Secchi G, Atzeni M M, Angius M F, Carboni A, Ciccarese M, Malavasi A, Maioli M

机构信息

Cattedra di Malattie del Metabolismo, University of Sassari, Italy.

出版信息

J Hypertens. 1999 Jan;17(1):33-8. doi: 10.1097/00004872-199917010-00006.

Abstract

OBJECTIVE

To evaluate the possible association of three candidate gene polymorphisms with essential hypertension in the genetically homogeneous Sardinian population.

SUBJECTS AND METHODS

We studied 494 unrelated, nondiabetic subjects, 213 (43.2%) with essential hypertension. All subjects underwent a 75 g oral glucose tolerance test with determination of glycemia and insulinemia and serum lipids. The polymorphisms evaluated comprised Trp64Arg of the beta 3-adrenergic receptor, Gly40Ser of the glucagon receptor gene and the insertion/deletion polymorphism of the angiotensin converting enzyme (ACE) gene.

RESULTS

Among the overall population studied, 48 (9.7%) were heterozygous carriers of the Trp64Arg polymorphism. The frequency of the Trp64Arg variant was significantly higher in hypertensives (13.6%) than normotensives (6.8%; chi 2 5.73, P = 0.017). The 48 subjects with the Trp64Arg variant had significantly higher (P < 0.049) serum triglyceride levels than the 446 with the Trp64Trp variant, while no significant differences were observed, either fasting or during the 75 g oral glucose tolerance test, in glycemia and insulinemia. No differences were found between hypertensive and normotensive subjects for ACE gene insertion/deletion polymorphism nor in the frequency of the Gly40Ser coding change in exon 2 of the glucagon receptor gene.

CONCLUSIONS

Our results are consistent with the thesis that the Trp64Arg polymorphism of the beta 3-adrenergic receptor gene is associated more often with the condition of high blood pressure than with normal blood pressure.

摘要

目的

评估三种候选基因多态性与基因同质化的撒丁岛人群原发性高血压之间的可能关联。

受试者与方法

我们研究了494名无亲缘关系的非糖尿病受试者,其中213名(43.2%)患有原发性高血压。所有受试者均接受了75克口服葡萄糖耐量试验,测定血糖、胰岛素水平及血脂。评估的多态性包括β3 - 肾上腺素能受体的Trp64Arg、胰高血糖素受体基因的Gly40Ser以及血管紧张素转换酶(ACE)基因的插入/缺失多态性。

结果

在所研究的总体人群中,48名(9.7%)是Trp64Arg多态性的杂合携带者。Trp64Arg变异体在高血压患者中的频率(13.6%)显著高于血压正常者(6.8%;χ² = 5.73,P = 0.017)。48名携带Trp64Arg变异体的受试者血清甘油三酯水平显著高于446名携带Trp64Trp变异体的受试者(P < 0.049),而在空腹或75克口服葡萄糖耐量试验期间,血糖和胰岛素水平未观察到显著差异。高血压和血压正常的受试者在ACE基因插入/缺失多态性方面以及胰高血糖素受体基因外显子2中Gly40Ser编码变化的频率方面均未发现差异。

结论

我们的结果与以下论点一致,即β3 - 肾上腺素能受体基因的Trp64Arg多态性与高血压状态的关联比与正常血压的关联更为常见。

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