Isabelle Schrauwen, Megan Ealy, Matthew J

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Presentation transcript:

A Genome-wide Analysis Identifies Genetic Variants in the RELN Gene Associated with Otosclerosis Isabelle Schrauwen, Megan Ealy, Matthew J. Huentelman, Melissa Thys, Nils Homer, Kathleen Vanderstraeten, Erik Fransen, Jason J. Corneveaux, David W. Craig, Mireille Claustres, Cor W.R.J. Cremers, Ingeborg Dhooge, Paul Van de Heyning, Robert Vincent, Erwin Offeciers, Richard J.H. Smith, Guy Van Camp The American Journal of Human Genetics Volume 84, Issue 3, Pages 328-338 (March 2009) DOI: 10.1016/j.ajhg.2009.01.023 Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 1 Schematic Representation of the Staged Design Used in This Study The American Journal of Human Genetics 2009 84, 328-338DOI: (10.1016/j.ajhg.2009.01.023) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 2 Fine Mapping of the chr7q22.1 Region in the Belgian-Dutch Population Significance is spread over the whole region. The strength of LD (r2 value) is shown in shades of gray. The originally identified SNP is indicated by an asterisk. The LD structure is based on CEPH genotype data (HapMap release 21a, phase II). The American Journal of Human Genetics 2009 84, 328-338DOI: (10.1016/j.ajhg.2009.01.023) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 3 Fine Mapping of the chr11q13.1 Region in the Belgian-Dutch Population All of the significance is located in the region of high LD telomeric to the original SNP (right LD block). The strength of LD (r2 value) is shown in shades of gray. The originally identified SNP is indicated by an asterisk. Seventeen genes or gene predictions are located in this region (based on NCBI build 36). The LD structure is based on CEPH genotype data (HapMap release 21a, phase II). The American Journal of Human Genetics 2009 84, 328-338DOI: (10.1016/j.ajhg.2009.01.023) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 4 Reelin Expression in Inner Ear and Stapes Footplate (A) RT-PCR analysis of P6 mouse cochlea (membranous part). P denotes postnatal day. (B) RT-PCR analysis of adult human stapes footplates. (C) Western blot analysis of P28 mouse brain and the complete inner ear (including surrounding cartilage). The arrow head indicates a nonspecific band detected by the secondary antibody. The American Journal of Human Genetics 2009 84, 328-338DOI: (10.1016/j.ajhg.2009.01.023) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 5 Expression Levels of Reln in Mice at Different Time Points after Birth P denotes postnatal day. The error bars indicate SEM. The American Journal of Human Genetics 2009 84, 328-338DOI: (10.1016/j.ajhg.2009.01.023) Copyright © 2009 The American Society of Human Genetics Terms and Conditions