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G 蛋白β3 亚单位多态性 C825T、C1429T 和 G5177A 在土耳其原发性高血压患者中的作用。

The role of G protein β3 subunit polymorphisms C825T, C1429T, and G5177A in Turkish subjects with essential hypertension.

机构信息

Department of Biophysics, Marmara University School of Medicine, Istanbul, Turkey.

出版信息

Clin Exp Hypertens. 2011;33(3):202-8. doi: 10.3109/10641963.2010.531855. Epub 2011 Apr 8.

DOI:10.3109/10641963.2010.531855
PMID:21473734
Abstract

Hypertension is a multifactorial disorder that constitutes a major risk factor for the cardiovascular system. Heterotrimeric G-proteins, which couple receptors for diverse extracellular enzymes or ion channels, are correlated with disease mechanisms. Several studies have demonstrated an association between G protein polymorphisms and essential hypertension in some populations, although contradictive results also exist. In this study, we have investigated the potential role of the C825T, C1429T, and G5177A polymorphisms of the β3 subunit of G-proteins in essential hypertension in a group of Turkish subjects. Genomic DNA from 106 normotensive individuals (117.4 ± 13.1, 75.2 ± 10.5; systolic blood pressure (SBP) and diastolic blood pressure (DBP) levels, respectively) and 101 hypertensive subjects (152.3 ± 18.0, 92.5 ± 11.6; SBP and DBP levels, respectively) were studied by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing methods for these polymorphisms. Allele frequencies of the polymorphisms were consistent with Hardy Weinberg equilibrium, except for the C825T polymorphism (χ(2) = 7.8). The frequencies of the 825T and 1429T variants were higher in hypertensive subjects compared to those of controls. Differences between hypertensives and controls were not statistically significant, though difference was very close to significance for C825T (p = 0.056 and 0.099 for 825T and 1429T, respectively). T allele frequency in overall population showed significant association with hypertension for C825T (0.0134). The prevalence of the 5177A-variant was very low and all subjects carrying it were heterozygotes in both groups.

摘要

高血压是一种多因素疾病,是心血管系统的主要危险因素之一。异三聚体 G 蛋白,其与多种细胞外酶或离子通道的受体偶联,与疾病机制相关。一些研究表明,在某些人群中,G 蛋白多态性与原发性高血压之间存在关联,尽管也存在矛盾的结果。在这项研究中,我们研究了 G 蛋白β3 亚基的 C825T、C1429T 和 G5177A 多态性在一组土耳其人群中的原发性高血压中的潜在作用。通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和直接测序方法,对 106 名血压正常的个体(117.4±13.1,75.2±10.5;收缩压(SBP)和舒张压(DBP)水平)和 101 名高血压患者(152.3±18.0,92.5±11.6;SBP 和 DBP 水平)的基因组 DNA 进行了这些多态性的研究。除 C825T 多态性(χ(2) = 7.8)外,多态性的等位基因频率符合 Hardy-Weinberg 平衡。与对照组相比,高血压患者的 825T 和 1429T 变体的频率更高。尽管 C825T 非常接近显著性(p = 0.056 和 0.099),但高血压患者与对照组之间的差异无统计学意义。总体人群中 C825T 的 T 等位基因频率与高血压显著相关(0.0134)。5177A 变体的患病率非常低,两组携带该变体的所有个体均为杂合子。

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