Assessment of genomic regulation and gene function in cardiovascular GWAS loci
The scientific questions that we attempt to address in the lab are part of projects aiming at reducing the existing gap between the high throughput capacities in generating increasing number of confirmed association loci and the functional assessment to identify the causal and functional genetic variants. Most of the time, genetic variants are tagged by a large number of associated SNPs, with theoretical regulatory role on genes with unknown biological function.
Our lab uses genetic data generated in one published GWAS on mitral valve prolapse, a common risk factor for heart failure and sudden death (PMID: 26301497) and one ongoing GWAS on Fibromuscular Dysplasia, a female neglected vascular disease supported by an ERC Starting project (See preliminary finding in PMID: 27792790). More details on diseases are available at nabilabouatianaji.fr.
Missions: To examine the functional significance of genetic susceptibility variants at GWAS confirmed loci using high throughput reported assays (e.g MPRA) and search for target genes using Hi-C based experiments in human cell models (smooth muscle cells, valvular interstitial cells); to assess the link with cardiovascular biology functions (migration, proliferation and survival) under diverse mechanical and hormonal stimuli of primary and engineered cells. 1. Kiando et al PLoS Genet 2016,PMID: 27792790
2. Dina et al., Nat Genet 2015 PMID:26301497
3. Kiando et al J Hypertension 2015 PMID: 26147384
4. Bouatia-Naji et al Diabetes 2010 PMID: 20622168
5. Bouatia-Naji et al Nat Genet 2009 PMID: 19060909
6. Bouatia-Naji et al Science 2008 PMID: 18451265
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