exploring the association of the cyp1a1-cyp1a2 locus with blood pressure in colaus
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Exploring the association of the CYP1A1-CYP1A2 locus with blood pressure in CoLaus. Diana Marek and Murielle Bochud. Background information. High blood pressure leads to hypertension, a major modifiable cardiovascular risk factor. In Switzerland, hypertension affects 1 in 3 adults. - PowerPoint PPT PresentationTRANSCRIPT
IUMSPInstitut universitaire de médecine sociale et préventive,
Lausanne
Exploring the association of the CYP1A1-CYP1A2 locus with blood pressure in
CoLaus
Diana Marek and Murielle Bochud
IUMSPInstitut universitaire de médecine sociale et préventive,
Lausanne2
Background information
High blood pressure leads to hypertension, a major modifiable cardiovascular risk factor.
In Switzerland, hypertension affects 1 in 3 adults.
Hypertension increases the risk of stroke, myocardial infarction and kidney diseases.
So far, the exact biological mechanism underlying hypertension is unknown in 95% of cases.
Hypertension aggregates in families, which suggests that genes play a role.
Genetic association studies are used to identify new blood pressure candidate genes.
IUMSPInstitut universitaire de médecine sociale et préventive,
Lausanne3
New loci associated with blood pressure(International Consortium on blood pressure genetics)
Ehret et al, Nature 2011, September 11Genome-wide meta-analysis for systolic and diastolic blood pressure
Chromosomes
Significance of the statistical association 29 genetic variants identified
Includes data from the CoLaus study in Lausanne
IUMSPInstitut universitaire de médecine sociale et préventive,
Lausanne4
29 SNPs genome-wide significant in 28 loci
8/29 SNPs are in high LD (r2 > 0.8) with a non-synonymous coding SNP.
Some evidence that the 29 SNPs are enriched for eSNPs.
The phenotypic variance explained by the 29 variants is ~1%.
IUMSPInstitut universitaire de médecine sociale et préventive,
Lausanne5
Locus 1: association signal with blood pressure at a locus where the causal gene is NOT clear
Ehret et al, Nature 2011
IUMSPInstitut universitaire de médecine sociale et préventive,
Lausanne6
Locus 2: the causal gene is NOT clear as well
IUMSPInstitut universitaire de médecine sociale et préventive,
Lausanne7
Aims of this project
to analyze the association of two ICBP loci (rs1378942 and rs11191548) with systolic and diastolic blood pressure in CoLaus.
to search the literature on the CYP1A1, CYP1A2 and CSK genes and to choose the most likely causal gene for the rs1378942 locus.
to search the literature on the CYP17A1, C10orf32, AS3MT, CNNM2 genes and choose the most likely gene for the .rs11191548 locus.
to conduct stratified analyses by selected covariates (the choice of covariates needs to be decided by the group) to confirm the most likely causal gene.