title: Association of HSD3B1 and HSD3B2 gene polymorphisms with essential hypertension, aldosterone level, and left ventricular structure.
abstract: 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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Laboratory Medicine, Department of Pathology of Microbiology, Nihon University School of Medicine, Itabashi-ku, Tokyo, Japan.
authors.forename: Masanori
authors.initials: M
authors.lastname: Shimodaira
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Nakayama
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Sato
authors.forename: Noriko
authors.initials: N
authors.lastname: Aoi
authors.forename: Mikano
authors.initials: M
authors.lastname: Sato
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Izumi
authors.forename: Masayoshi
authors.initials: M
authors.lastname: Soma
authors.forename: Koichi
authors.initials: K
authors.lastname: Matsumoto
mesh_terms: D000328:Adult; D000450:Aldosterone / Q000097:blood*; D016022:Case-Control Studies; D004452:Echocardiography; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D006973:Hypertension / Q000097:blood* / Q000235:genetics*; D017379:Hypertrophy, Left Ventricular / Q000097:blood* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011375:Progesterone Reductase / Q000235:genetics*
chemical_list: D000450:Aldosterone; C533068:3 beta-hydroxysteroid dehydrogenase type II; D011375:Progesterone Reductase