G-protein β3 subunit gene variant and left ventricular hypertrophy in essential hypertension
G-protein β3 subunit gene variant and left ventricular hypertrophy in essential hypertension
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DOI：
10.1161/01.hyp.35.1.214
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发表时间：
2000-01-01
期刊：
影响因子：
8.3
通讯作者：
de la Sierra, A
中科院分区：
文献类型：
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作者：
Poch, E;González, D;de la Sierra, A
GNB3基因编码G蛋白β(3)亚基的C825T替换是一种功能性遗传变异，它与增强G蛋白激活和细胞生长有关。本研究的目的是在一组高血压患者样本中调查该基因多态性与左心室肥厚的关系。应用二维超声心动图测定86例高血压病患者的左心室重量，并采用聚合酶链式反应和限制性内切酶酶切技术检测GNB3C825T基因型。C等位基因(CC)纯合子37例(0.43)，杂合子(CT)40例(0.47)，T等位基因(TT)纯合子9例(0.10)。患者间的基因分布符合Hardy-Weinberg平衡。CT和TT同时携带者(CT+TT)的左心室舒张末内径(52.0+/-0.7vs48.9+/-0.90 mm，P=0.007)、后壁厚度(11.3+/-0.2vs10.6+/-0.2 mm，P=0.042)和左心室重量指数(152.7+/-4.4vs.135.2+/-6.4g/m(2)，P=0.023)显著高于CC组。与LVH组比较，CC型20例(0.33)，CT+TT组40例(0.67)，CC组17例(0.65)，CT+TT组9例(0.35)。
A functional genetic variant consisting of a C825T substitution in the GNB3 gene, encoding for the G-protein beta(3) subunit, has been associated with enhanced G-protein activation and cell growth. The aim of the study was to ;investigate the association of this polymorphism with left ventricular hypertrophy (LVH) in a sample of patients with essential hypertension. Left ventricular mass was assessed by 2-mode echocardiography in 86 patients with essential hypertension, and GNB3 C825T genotype was determined by polymerase chain reaction and restriction digestion. Thirty-seven (0.43) patients were homozygous for the C allele (CC), 40 (0.47) were heterozygous (CT), and 9 (0.10) were homozygous for the T allele (TT). The genotype distribution among the patients was in Hardy-Weinberg equilibrium. Values of left ventricular end-diastolic diameter (52.0+/-0.7 versus 48.9+/-0.9 mm, P=0.007), posterior wall thickness (11.3+/-0.2 versus 10.6+/-0.2 mm, P=0.042), and left ventricular mass index (152.7+/-4.4 versus 135.2+/-6.4 g/m(2), P=0.023) were significantly higher in patients with CT and TT genotypes considered together (CT+TT) than in CC patients. The distribution of the genotypes was significantly different when comparing patients with LVH: 20 (0.33) CC and 40 (0.67) CT+TT patients had this complication, and 17 (0.65) CC and 9 (0.35) CT+TT patients did not (P