Our results confirm the difficulty in dissecting both essential hypertension and pharmacogenomics when analyzing the effect of single genes in complex multifactorial traits.
Our study confirmed the sex-specific association of GNB3 with the blood pressure response to atenolol with no substantial advantage of the analysis of haplotypes over SNPs.
To clarify the role of gene polymorphisms on the effect of losartan and losartan plus hydrochlorothiazide on blood pressure (primary end point) and on cardiac, vascular and metabolic phenotypes (secondary end point) after 4, 8, 12, 16 and 48 weeks treatment, an Italian collaborative study - The Study of the Pharmacogenomics in Italian hypertensive patients treated with the Angiotensin receptor blocker losartan (SOPHIA) - on never-treated essential hypertensives (n = 800) was planned. After an 8 week run-in, losartan 50 mg once daily will be given and doubled to 100 mg at week +4 if blood pressure is more than 140/90 mmHg. Hydroclorothiazide 25 mg once daily at week +8 and amlodipine 5 mg at week +16 will be added if blood pressure is more than 140/90 mmHg. Cardiac mass (echocardiography), carotid intima-media thickness, 24 h ambulatory blood pressure, homeostatic model assessment (HOMA) index, microalbuminuria, plasma renin activity and aldosterone, endogenous lithium clearance, brain natriuretic peptide and losartan metabolites will be evaluated. Genes of the renin-angiotensin-aldosterone system, salt sensitivity, the beta-adrenergic system and losartan metabolism will be studied (Illumina custom arrays). A whole-genome scan will also be performed in half of the study cohort (1M array, Illumina 500 GX beadstation).
We report a case of a 69 year old woman admitted to our hospital with a worsening dyspnoea in the last three months. In the past she had surgical removal of mediastinic paraganglioma and a removal of paraganglioma of left carotid glomous; arterial hypertension since 15 years before with a satisfactory control of blood pressure with anti-hypertensive drugs.A transthoracic echocardiography showed a mass (size 31 x 38 mm) adherent to back wall of right atrium, a MRI of heart confirmed the presence of this mass. Then, a surgery treatment was performed but the atrial mass have been incompletely removed because involved the sectal lembus of tricuspidal valve and superior wall of coronary sinus as far as atrio-ventricular junction; during the operation there was a transitory increase of arterial pressure (PA 180/100 mmHg, FC 92 bpm).The histopathological examination of the removed mass showed the feature of a black paraganglioma.Because of personal history, the site and the histopathological features of the removed lesion paraganglioma/pheochromocytoma syndrome was suspected.The genetic analysis revealed a an insertion into 4th exon of SDHD gene (444-445 ins ATCT) on etherozygosis, this alteration has not never been reported before. The diagnosis of paraganglioma/ pheochromocytoma syndrome type 1 (PGL 1) (OMIM 168000) was made.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.