HLX1 gene variants influence the development of childhood asthma

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Presentation transcript:

HLX1 gene variants influence the development of childhood asthma Kathrin Suttner, MSc, Isabell Ruoss, MD, Philip Rosenstiel, MD, Martin Depner, MSc, Leonardo A. Pinto, MD, Michaela Schedel, PhD, Jerzy Adamski, PhD, Thomas Illig, PhD, Stefan Schreiber, MD, Erika von Mutius, MD, Michael Kabesch, MD Journal of Allergy and Clinical Immunology Volume 123, Issue 1, Pages 82-88.e6 (January 2009) DOI: 10.1016/j.jaci.2008.09.047 Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Structure of the HLX1 gene on chromosome 1q41 and the LD (r2 plot) between the HLX1 polymorphisms (MAF >3%) identified in the screening population (n = 40). Color code for the LD plot is produced by using Haploview software: white (r2 = 0), shades of gray (0 < r2 < 1), and black (r2 = 1). Journal of Allergy and Clinical Immunology 2009 123, 82-88.e6DOI: (10.1016/j.jaci.2008.09.047) Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 The polymorphisms C−1407T and C−742G reduce HLX1 promoter activity in Jurkat T cells. Jurkat T cells transiently transfected with 1.8-kb HLX1 promoter reporter constructs carrying the wild-type (wt) or respective polymorphic sequences (n = 3) are shown. Cells were left unstimulated or stimulated with ionomycin and harvested after 18 hours. ∗P < .05, ∗∗P < .01, and ∗∗∗P < .001, Student t test. Journal of Allergy and Clinical Immunology 2009 123, 82-88.e6DOI: (10.1016/j.jaci.2008.09.047) Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 3 Allele-specific transcription factor binding analyses within the HLX1 promoter in nuclear extracts from Jurkat T cells. EMSA probes carrying wild-type (WT) or polymorphic (PO) allele for C−1407T (left) and C−742G (right). DNA-protein interaction patterns for wild-type (lanes 1 and 14) and polymorphic alleles (lanes 2 and 15) show the formation of 5 specific complexes in wild-type probes only. All 5 complexes are abrogated by competition with 100-fold molar excess of cold oligos (lane 3 and lane 16) and with SP consensus sites (lanes 5 and 18). Specific antibodies for the SP transcription factor family (SP1, SP3, and SP4) supershift specific complexes (lanes 8-12 and 21-25), indicating the presence of the respective SP proteins in the complexes. Journal of Allergy and Clinical Immunology 2009 123, 82-88.e6DOI: (10.1016/j.jaci.2008.09.047) Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions

LD (r2 plot) between HLX1 single and tagging SNPs (representing blocks 1, 2, 3, 4, and 5) genotyped in the Dresden population (n = 1940). Color code for the LD plot is produced by using Haploview: white (r2 = 0), shades of gray (0 < r2 < 1), and black (r2 = 1). Journal of Allergy and Clinical Immunology 2009 123, 82-88.e6DOI: (10.1016/j.jaci.2008.09.047) Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions