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TBX21 gene variants increase childhood asthma risk in combination with HLX1 variants  Kathrin Suttner, MSc, Philip Rosenstiel, MD, Martin Depner, MSc,

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Presentation on theme: "TBX21 gene variants increase childhood asthma risk in combination with HLX1 variants  Kathrin Suttner, MSc, Philip Rosenstiel, MD, Martin Depner, MSc,"— Presentation transcript:

1 TBX21 gene variants increase childhood asthma risk in combination with HLX1 variants 
Kathrin Suttner, MSc, Philip Rosenstiel, MD, Martin Depner, MSc, Michaela Schedel, PhD, Leonardo A. Pinto, MD, Andreas Ruether, PhD, Jerzy Adamski, PhD, Norman Klopp, PhD, Thomas Illig, PhD, Christian Vogelberg, MD, Stefan Schreiber, MD, Erika von Mutius, MD, Michael Kabesch, MD  Journal of Allergy and Clinical Immunology  Volume 123, Issue 5, Pages e8 (May 2009) DOI: /j.jaci Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 Fig 1 Structure of the TBX21 gene, location of polymorphisms, and linkage disequilibrium (r2) between TBX21 polymorphisms (MAF ≥ 10%) genotyped in the case-control population (N = 1872). TBX21 tagging SNPs are underlined. Color code for the LD plot is given by Haploview: white (r2 = 0), shades of gray (0 < r2 < 1), and black (r2 = 1). Journal of Allergy and Clinical Immunology  , e8DOI: ( /j.jaci ) Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions

3 Fig 2 TBX21 polymorphisms influence TBX21 promoter activity in Jurkat T cells. Jurkat T cells were transiently transfected with 2.1-kb TBX21 promoter reporter constructs carrying the nonrisk allele, combinations of the risk alleles -1514C and -999A (A), or 1 risk allele at position -1993C (B). Cells were left unstimulated or stimulated with ionomycin (50 ng/mL) and harvested after 18 hours (n = 6). The relative luciferase activity is presented in relative light units (RLUs). Journal of Allergy and Clinical Immunology  , e8DOI: ( /j.jaci ) Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions

4 Overview of cross-sectional and case-control selection based on children from the International Study of Asthma and Allergies in Childhood II (Munich, Dresden) and Leipzig.E1 Journal of Allergy and Clinical Immunology  , e8DOI: ( /j.jaci ) Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions

5 Power calculator for case-control genetic association analyses
Power calculator for case-control genetic association analyses.E2 Parameters were set according to the used case-control study population MDL. Journal of Allergy and Clinical Immunology  , e8DOI: ( /j.jaci ) Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions

6 Structure of the TBX21 gene, location of polymorphisms, and LD (r2) between TBX21 polymorphisms (MAF ≥ 10%) identified in the screening population (n = 26). Full information on all mutations and SNPs in TBX21 was available for 26 of 37 individuals. Thus, r2 may differ from that in Table E4. Color code for the LD plot is given by Haploview: white (r2 = 0), shades of gray (0 < r2 < 1), and black (r2 = 1). Journal of Allergy and Clinical Immunology  , e8DOI: ( /j.jaci ) Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions

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