Association of HSD3B1 and HSD3B2 gene polymorphisms with essential hypertension, aldosterone level, and left ventricular structure
Association of HSD3B1 and HSD3B2 gene polymorphisms with essential hypertension, aldosterone level, and left ventricular structure
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DOI：
10.1530/eje-10-0428
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发表时间：
2010-10-01
影响因子：
5.8
通讯作者：
Matsumoto, Koichi
中科院分区：
文献类型：
--
作者：
Shimodaira, Masanori;Nakayama, Tomohiro;Matsumoto, Koichi
背景：HSD 3B 1和HSD 3B 2是合成包括醛固酮在内的激素类固醇的关键酶。方法：采用单倍型和双倍型病例对照研究方法，探讨HSD 3B基因变异与原发性高血压（EH）、醛固酮水平及左室肥厚（LVH）的关系。对275例EH患者和286例对照者进行了HSD 3B 1基因的4个SNPs（rs3765945、rs3088283、rs6203和rs 1047303）和HSD 3B 2基因的2个SNPs（rs 2854964和rs 1819698）的基因分型。结果：rs6203基因的隐性模式（CC与TC+TT）在对照组和EH组中的总的和男性的差异有统计学意义（分别为P=0.030和P=0.008）。EH组中rs3088283-rs 1047303单倍型的频率显著高于对照组（P=0.014）。尽管HSB 3B 1的多态性与LVH无关，但在所有受试者组中，由rs3088283-rs 1047303确定的双体型，沿着收缩压、舒张压和醛固酮水平，在具有T-C单体型的受试者中显著高于不具有T-C单体型的受试者结论：HSD 3B 1基因rs6203和rs 1047303多态性与原发性高血压相关，且与血压和醛固酮水平相关。
Background: 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.Methods: 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.Results: 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).Conclusion: 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.