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High Copy Numbers of β-Defensin Cluster on 8p23

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Presentation on theme: "High Copy Numbers of β-Defensin Cluster on 8p23"— Presentation transcript:

1 High Copy Numbers of β-Defensin Cluster on 8p23
High Copy Numbers of β-Defensin Cluster on 8p23.1, Confer Genetic Susceptibility, and Modulate the Physical Course of Hidradenitis Suppurativa/Acne Inversa  Evangelos J. Giamarellos-Bourboulis, Matthias Platzer, Ioannis Karagiannidis, Theodora Kanni, Georgios Nikolakis, Jens Ulrich, Michael Bellutti, Harald Gollnick, Michael Bauer, Christos C. Zouboulis, Klaus Huse  Journal of Investigative Dermatology  Volume 136, Issue 8, Pages (August 2016) DOI: /j.jid Copyright © 2016 The Authors Terms and Conditions

2 Figure 1 Copy numbers of β-defensin gene cluster between patients with hidradenitis suppurativa/acne inversa and control subjects. Results are provided separately for (a) the Greek cohort and (b) the German cohort. P-value in each panel indicates statistical comparison between control subjects and patients by the chi-square test. CN, copy number. Journal of Investigative Dermatology  , DOI: ( /j.jid ) Copyright © 2016 The Authors Terms and Conditions

3 Figure 2 Risk of acquisition of hidradenitis suppurativa/acne inversa (HS) with carriage of more than six copy number variations of the β-defensin gene cluster. A meta-analysis of the two independent cohorts. (a) All cases versus controls. (b) Sporadic cases versus controls. CI, confidence interval; M-H, Mantel-Haenszel statistic. Journal of Investigative Dermatology  , DOI: ( /j.jid ) Copyright © 2016 The Authors Terms and Conditions

4 Figure 3 Copy number (CNs) of the β-defensin gene cluster modulate the disease course of hidradenitis suppurativa/acne inversa. (a) Impact of carriage of more than six copies on age of disease onset. (b) Frequency of permanent inflammation phenotype among carriers of more than six copies. (c) Number of affected skin areas in relation to the CN variations. P-values refer to comparisons between carriers of six or fewer CN variations and greater than six CN variations. Journal of Investigative Dermatology  , DOI: ( /j.jid ) Copyright © 2016 The Authors Terms and Conditions

5 Figure 4 Production of human β-defensin–2 by whole blood of patients with hidradenitis suppurativa/acne inversa (HS). (a) Graph of 48-hour stimulation with heat-killed Staphylococcus aureus in healthy control subjects and patients. Production from unstimulated blood was below the limit of detection in all control subjects and all patients. (b) Graph of 24-hour stimulation with heat-killed S. aureus in relation to the copy number (CNs) of the β-defensin gene cluster. P-values refer to the indicated comparisons. Journal of Investigative Dermatology  , DOI: ( /j.jid ) Copyright © 2016 The Authors Terms and Conditions


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