Genetic structure of Europeans: a view from the North-East
A consortium of scientists from across Europe including researchers at the CNG have published new data describing the genetic structure of European populations in PLoS One (Nelis et al. PloS One 4:e5472, 2009). With at least two cohorts available from several countries, genetic substructures were investigated in Czech, Finnish, German, Estonian and Italian populations. Together with our previously published data (Heath et al. Investigation of the fine structure of European populations with applications to disease association studies, Eu J Hum Genetics 16:1413-1429, 2009), these results allow the creation of a comprehensive European genetic map that will greatly facilitate inter-population genetic studies including genome wide association studies (GWAS).
The Global BPgen consortium discovers eight new blood pressure genetic variants
In a publication in Nature Genetics (Newton-Cheh et al., advanced on-line publication), scientists at CNG and other French groups participating in an international collaboration (Global BPgen) involving 150 scientists from 93 centres in Europe and the USA report the identification of eight common genetic variants that influence blood pressure. 2.5 million genotyped and imputed SNPs for association with systolic and diastolic blood pressure in 34,433 subjects of European ancestry from the Global BPgen consortium and followed up ?ndings with direct genotyping (N=71,225 European ancestry, N=12,889 Indian Asian ancestry) and in silico comparison (CHARGE consortium, N=29,136). All variants associated with continuous blood pressure were associated with dichotomous hypertension. Based on the location of the variants, it is deduced that some of the genes involved may control the production of steroids, or influence how the blood vessels regulate blood pressure, whereas others present completely new and unexplored avenues of research. These associations between common variants and blood pressure and hypertension offer mechanistic insights into the regulation of blood pressure and may point to novel targets for interventions to prevent cardiovascular disease.
A new genetic study shows that ABO is a major risk factor for venous thrombosis
The Group of Pierre Morange (INSERM, UMR_S 626, Université de la Méditerranée, Marseille, France)
and other French laboratories working in collaboration with the CNG have recently identified the ABO blood group locus along
with the FV as the primary common genetic susceptibility locus for venous thrombosis.
The results of this research are published in the March 2009 issue of Blood (Blood. 2009 Mar 10).
[Abstract]
In a recent paper appearing in PLoS ONE (Newhouse et al. 4:e5003, 2009) co-authored with researchers at the CNG, an international consortium has established that DNA variants in the WNK1 gene are associated with blood pressure variation and urinary potassium excretion
WNK1--a serine/threonine kinase involved in electrolyte homeostasis and blood pressure (BP) control--is an excellent candidate gene for essential hypertension. Using tag SNPs (tSNPs) that capture 100% of common WNK1 variation in HapMap, we tested the association of variants of this gene with Haplotype analysis revealed striking associations with hypertension and BP variation (global permutation p<10(-7)). We identified several common haplotypes to be associated with increased BP and multiple low frequency haplotypes significantly associated with lower BP (>10 mmHg reduction) and risk for hypertension (OR<0.60). Our data indicate that multiple rare and common WNK1 variants contribute to BP variation and hypertension, and provide compelling evidence to initiate further genetic and functional studies to explore the role of WNK1 in BP regulation and related traits. Many more results from our studies on the genetics of blood pressure in humans will be appearing soon in Nature Genetics (watch for an update here).
Two new books that have been recently published under the responsibility of J. Tost at the CNG provide key background to the analysis of gene methylation and epigenomics
"DNA Methylation Methods and Protocols" edited by J. Tost an published in 2008 is the 2nd edition of this volume in Springer Protocols Methods in Molecular Biology series. The contributers are leading scientists in the field of methylation studies. The book provides pratical guidance for implementing all of the important methods for detecting and quantifying methylation patterns ranging from those adapted global genome analyse to those that can be applied to precise quantitative measures on single CpG positions.
"Epigenetics" also edited by J. Tost and published by Casister Academic Press in 2008 is a broad survey of the biology of epigenetic phenomena in different organisms and/or associated with specific phenotypes. With 30 contributers, and covering areas ranging from methylation, histone modifications, stem cells, imprinting, X-inactivation, cancer, effects of environment and longevity, this volume is essential reading for anyone interested in the field.
These books can be purchased on-line at:
http://www.springerprotocols.com/BookToc/doi/10.1007/978-1-59745-522-0.
and http://www.horizonpress.com/epi
The 3rd Paris Workshop on Genomic Epidemiology
25th-27th March 2009
Maison de la Chimie, 28 rue Saint-Dominique, 75007 Paris