Division of Laboratory Medicine, Department of Pathology of Microbiology, Nihon University School of Medicine, Itabashi-ku, Tokyo, Japan.
Eur J Endocrinol. 2010 Oct;163(4):671-80. doi: 10.1530/EJE-10-0428. Epub 2010 Jul 21.
HSD3B1 and HSD3B2 are crucial enzymes for the synthesis of hormonal steroids, including aldosterone. Therefore, HSD3B gene variations could possibly influence blood pressure (BP) by affecting the aldosterone level.
We performed a haplotype- and diplotype-based case-control study to investigate the association between the HSD3B gene variations and essential hypertension (EH), aldosterone level, and left ventricular hypertrophy (LVH). A total of 275 EH patients and 286 controls were genotyped for four SNPs of the HSD3B1 gene (rs3765945, rs3088283, rs6203, and rs1047303) and for two SNPs of the HSD3B2 gene (rs2854964 and rs1819698). Aldosterone and LVH were investigated in 240 and 110 subjects respectively.
Significant differences were noted for the total and the male subject groups for the recessive model (CC versus TC+TT) of rs6203 between the controls and EH patients (P=0.030 and P=0.008 respectively). The frequency of the T-C haplotype established by rs3088283-rs1047303 was significantly higher for EH patients compared with the controls (P=0.014). Even though the polymorphism of HSB3B1 was not associated with LVH, the diplotype established by rs3088283-rs1047303 in the total subject group, along with the systolic BP, diastolic BP, and aldosterone level were significantly higher for those subjects who had the T-C haplotype versus those who did not (P=0.025, P=0.014, and P=0.006 respectively).
rs6203 and rs1047303 in the HSD3B1 gene are useful genetic markers for EH, while polymorphisms of HSD3B1 are associated with the BP and aldosterone level.
HSD3B1 和 HSD3B2 是合成激素类固醇（包括醛固酮）的关键酶。因此，HSD3B 基因变异可能通过影响醛固酮水平来影响血压（BP）。
我们进行了基于单倍型和二倍型的病例对照研究，以调查 HSD3B 基因变异与原发性高血压（EH）、醛固酮水平和左心室肥厚（LVH）之间的关联。共对 275 例 EH 患者和 286 例对照进行了 HSD3B1 基因的 4 个 SNP（rs3765945、rs3088283、rs6203 和 rs1047303）和 HSD3B2 基因的 2 个 SNP（rs2854964 和 rs1819698）的基因分型。在 240 名和 110 名受试者中分别检测了醛固酮和 LVH。
在对照组和 EH 患者中，rs6203 的隐性模型（CC 与 TC+TT）在总人群和男性人群中存在显著差异（P=0.030 和 P=0.008）。与对照组相比，EH 患者 rs3088283-rs1047303 建立的 T-C 单倍型频率显著更高（P=0.014）。尽管 HSB3B1 的多态性与 LVH 无关，但在总人群中，rs3088283-rs1047303 建立的二倍型以及收缩压、舒张压和醛固酮水平在具有 T-C 单倍型的受试者中显著高于没有 T-C 单倍型的受试者（P=0.025、P=0.014 和 P=0.006）。
HSD3B1 基因中的 rs6203 和 rs1047303 是 EH 的有用遗传标志物，而 HSD3B1 的多态性与 BP 和醛固酮水平相关。
