Institute of Genomics and Integrative Biology, Mall Road, Delhi 110 007, India.
Clin Biochem. 2010 Jan;43(1-2):136-41. doi: 10.1016/j.clinbiochem.2009.09.015. Epub 2009 Sep 26.
Aldosterone synthase produces aldosterone, which regulates electrolytes and thereby blood pressure. Polymorphisms in aldosterone-synthase gene (CYP11B2) may associate with heterogeneous aldosterone production and hypertension. Hence, we investigated -344T/C, Iw/Ic polymorphisms of CYP11B2, plasma renin activity (PRA) and aldosterone concentration (PAC).
Consecutive ethnically-matched 450 hypertensive patients and 360 controls were screened by PCR-RFLP for genotypes and haplotypes; PRA and PAC were measured.
The Iw/Ic polymorphism distribution differed significantly between the two groups (LRT chi(2)=15.8, df=2, P=0.000). The mutant allele-Ic and genotype-Ic/Ic were overrepresented in patients (35% versus 27% and 13% versus 7%). Overrepresentation of T-Ic haplotype in patients was identified as risk haplotype (P=0.000). Patients had significantly higher PAC and aldosterone-to-renin ratio (ARR; P=0.000), which was Ic-allele dependent.
The haplotype T-Ic associated with hypertension susceptibility. Correlation between Ic-allele and raised ARR likely serve in hypertension management.
醛固酮合酶产生醛固酮，调节电解质，从而调节血压。醛固酮合酶基因（CYP11B2）的多态性可能与醛固酮生成和高血压的异质性有关。因此，我们研究了 CYP11B2 的-344T/C、Iw/Ic 多态性、血浆肾素活性（PRA）和醛固酮浓度（PAC）。
通过 PCR-RFLP 对连续的、种族匹配的 450 名高血压患者和 360 名对照者进行基因型和单倍型筛查；测量 PRA 和 PAC。
Iw/Ic 多态性在两组间的分布差异有统计学意义（LRT chi(2)=15.8, df=2, P=0.000）。突变等位基因-Ic 和基因型-Ic/Ic 在患者中更为常见（35%比 27%和 13%比 7%）。在患者中，T-Ic 单倍型的过度表达被确定为风险单倍型（P=0.000）。患者的 PAC 和醛固酮与肾素比值（ARR；P=0.000）显著升高，这与 Ic 等位基因有关。
T-Ic 单倍型与高血压易感性相关。Ic 等位基因与升高的 ARR 之间的相关性可能有助于高血压的管理。
