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.
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.
Authors: Erika Salvi; Zhiying Wang; Federica Rizzi; Yan Gong; Caitrin W McDonough; Sandosh Padmanabhan; Timo P Hiltunen; Chiara Lanzani; Roberta Zaninello; Martina Chittani; Kent R Bailey; Antti-Pekka Sarin; Matteo Barcella; Olle Melander; Arlene B Chapman; Paolo Manunta; Kimmo K Kontula; Nicola Glorioso; Daniele Cusi; Anna F Dominiczak; Julie A Johnson; Cristina Barlassina; Eric Boerwinkle; Rhonda M Cooper-DeHoff; Stephen T Turner Journal: Hypertension Date: 2016-10-31 Impact factor: 10.190
Authors: Gonda Konings; Linda Brentjens; Bert Delvoux; Tero Linnanen; Karlijn Cornel; Pasi Koskimies; Marlies Bongers; Roy Kruitwagen; Sofia Xanthoulea; Andrea Romano Journal: Front Pharmacol Date: 2018-09-19 Impact factor: 5.810
Authors: Claudia T Silva; Irina V Zorkoltseva; Najaf Amin; Ayşe Demirkan; Elisabeth M van Leeuwen; Jan A Kors; Marten van den Berg; Bruno H Stricker; André G Uitterlinden; Anatoly V Kirichenko; Jacqueline C M Witteman; Rob Willemsen; Ben A Oostra; Tatiana I Axenovich; Cornelia M van Duijn; Aaron Isaacs Journal: Front Genet Date: 2016-11-08 Impact factor: 4.599