The HYPERGENES Project investigated associations between genetic variants and essential hypertension pursuing a 2-stage study by recruiting cases and controls from extensively characterized cohorts recruited over many years in different European regions. Continue reading
Monthly Archives: July 2012
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
| Underweight and obese phenotypes can both pose health risks. But whereas obesity has been associated with a number of genetic variants, little is known about the genetic basis of underweight. A large-scale screen of data from 28 cytogenetic centres in Europe and North America now shows that being underweight is frequently associated with duplication of a short region on chromosome 16. Continue reading |
Novel method to estimate explained variance of GWAS hits reveals large fraction of the missing heritability
Genome-wide association studies (GWAS) are conducted with the promise to discover novel genetic variants associated with diverse traits. For most traits, associated markers individually explain just a modest fraction of the phenotypic variation, but their number can well be in the hundreds. We developed a maximum likelihood method that allows us to infer the distribution of associated variants even when many of them were missed by chance.
Hundreds of genomic variants are associated with human anthropometric traits
Via the CoLaus and Hypergenes cohorts our group contributed to the meta-analysis of the GIANT consortium that revealed hundreds of genetic variants associated with human height; 18 new loci for body mass index; and 13 new loci for waist-hip-ratio.
Genome-wide Association Study reveals new HLA-haplotype strongly protective against narcolepsy
We are involved in a Genome-wide Association Study on narcolepsy conducted by Mehdi Tafti’s Group at the University of Lausanne. In brief, we identified a haplotype in the HLA-region that is strongly protective against narcolepsy. More than 10% of HLA-positive controls carry this DRB1*1301-DQB1*0603 haplotype, which was found in virtually no narcoleptic cases. The research findings were published in Nature Genetics.