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rs3903239

rs3903239. Vanessa Burns Gene 210 SNP. rs3903239. 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. rs3903239.

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rs3903239

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  1. rs3903239 Vanessa Burns Gene 210 SNP

  2. rs3903239 • 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

  3. rs3903239 • 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

  4. rs3903239 • 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

  5. References 1. Ellinor, P.T., et al., Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nature Genetics, 2012. Advance Online Publication. 2. GeneCards.org. "Paired Related Homeobox 1". [cited 2012 May 17]; Available from: http://www.genecards.org/cgi-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. 9:1237–1249. 4. Ihida-Stansbury, K., et al., Paired-related homeobox gene Prx1 is required for pulmonary vascular development. Circulation research, 2004. 94(11): p. 1507-1514.

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