Rs3903239 Vanessa Burns Gene 210 SNP. rs3903239 Involved in lung vascular development and skeletogenesis PrrX1-/- mice are embryonic lethal – Cleft palate.

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Presentation transcript:

rs Vanessa Burns Gene 210 SNP

rs Involved in lung vascular development and skeletogenesis PrrX1-/- mice are embryonic lethal – Cleft palate – Hypoplastic processes of the manible Developing mesodermal muscle such as the heart

rs Correlated with Atrial fibrillation (p = 9.1x10^- 11, discovery phase) in a European cohort (6,707 people with confirmed atrial fibrillation and 52,426 without) Minor allele frequency (C) of 29.9% compared to the major allele (G), and a risk frequency of 1.14

rs Drawbacks: – wide range of ages included – high prevalence of potentially correlated atrial fibrillation-based traits, such as hypertension, relative body mass index, and diabetes PrrX1-related SNPs have also been implicated in atrial fibrillation in other populations Not being using for treatment or as a diagnosis for atrial fibrillation

References 1.Ellinor, P.T., et al., Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nature Genetics, Advance Online Publication. 2.GeneCards.org. "Paired Related Homeobox 1". [cited 2012 May 17]; Available from: bin/carddisp.pl?gene=PRRX1. 3. Martin, J.F., Bradley, A., Olson, E.N. (1995) Thepaired-like homeo box gene MHox is required for early event of skeletogenesis in multiple lineages. Genes & Development. 9:1237– Ihida-Stansbury, K., et al., Paired-related homeobox gene Prx1 is required for pulmonary vascular development. Circulation research, (11): p