Cardiovasculaire Geneeskunde.nl

Hypertension and Genetics

Slides (presentatie) - Mar. 22, 2012

Hypertension & Genetics


Deze presentatie is gehouden door:
Prof. Morris Brown, Professor of Clinical Pharmacology, University of Cambridge, UK
tijdens de Cardio Vasculaire Conferentie op 15 maart 2012

Bekijk of download de presentatie



Hypertension & Genetics

Where are the genes for hypertension?

Methods for detecting genes for hypertension

Is hypertension ‘just’ the skewed end of the normal BP distribution?

Principal pathways and disorders altering sodium reabsorption in the nephron

Principal pathways and disorders altering sodium reabsorption in the nephron

Principal pathways and disorders altering sodium reabsorption in the nephron

Principal pathways and disorders altering sodium reabsorption in the nephron

Liddle’s syndrome: how genetic truncation causes gain of function

Apparent Mineralocorticoid Excess

Low K+, low renin, low aldosterone = ? liquorice





Novel mutations for Gordon’s syndrome identified by whole exome sequencing

From monogenic to complex: the numbers game

From monogenic to complex: the numbers game




‘Manhattan plot’ showing genetic complexity of hypertension

Relative Risk from GWAS loci

Relative Risk from GWAS loci

Breadth of loci of genetic association

Breadth of loci of genetic association

Somatic mutations of the adrenal: the commonest cause of hypertension

Microarray, qPCR and KCNJ5 sequencing shows different profiles for zona glomerulosa (ZG) and fasciculata (ZF) tumors

Conn’s Adenoma

Conn’s Adenoma

Are KCNJ5 mutations common and does their finding influence clinical management?

KCNJ5 genotype:phenotype I

KCNJ5 genotype:phenotype II

KCNJ5 genotype:phenotype II

KCNJ5 genotype:phenotype II

Early diagnosis of APA by 11C-metomidate PET CT

Early diagnosis of APA by PET CT

Early diagnosis of APA by PET CT

Summary

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