Frau, Francesca (2010) Aplotipi del sistema beta-adrenergico e risposta ai betabloccanti. Doctoral Thesis.
Background: the association of single nucleotide polymorphisms (SNPs) of the adrenergic system with essential hypertension (EH) and with the blood pressure (BP) response to beta-blockers is debated. Aims: to analyse the association of haplotypes of the adrenergic system with EH and with the BP response to atenolol. Materials and Methods: in 1112 never treated EH patients and 203 normotensives, tightly linked single nucleotide polymorphisms (SNPs) of beta-adrenergic receptors (ADRB1--Ser49Gly and Arg389Gly--; ADRB2--Cys19Arg, Gly16Arg and Gln27Glu--) and G-protein beta3-subunit (GNB3-- A3882C, G5249A and C825T--) were genotyped (either PCR followed by RFLP or Realtime Taq-Man PCR). Association of haplotypes with EH and with the BP response to atenolol 50 mg b.i.d. in a subgroup of EH patients (n= 340) was evaluated (Haploview 3.2, Stata 9.2). Results: no SNPs or haplotypes were associated with EH. In females only, GNB3 SNPs and haplotypes were associated with the BP response (p<0.05). Conclusions: our study confirmed the sex-specific association of GNB3 with the BP response to atenolol with no substantial advantage of the analysis of haplotypes over SNPs.
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