Universität zu Köln

Toncheva, Antoaneta A., Suttner, Kathrin, Michel, Sven, Klopp, Norman, Illig, Thomas, Balschun, Tobias, Vogelberg, Christian, von Berg, Andrea, Bufe, Albrecht ORCID: 0000-0001-7335-9362, Heinzmann, Andrea, Laub, Otto, Rietschel, Ernst, Simma, Burkhard, Frischer, Thomas, Genuneit, Jon, von Mutius, Erika ORCID: 0000-0002-8893-4515 and Kabesch, Michael (2012). Genetic variants in Protocadherin-1, bronchial hyper-responsiveness, and asthma subphenotypes in German children. Pediatr. Allergy Immunol., 23 (7). S. 636 - 642. HOBOKEN: WILEY-BLACKWELL. ISSN 0905-6157

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Abstract

Background: Recently, Protocadherin-1 (PCDH1) was reported as a novel susceptibility gene for bronchial hyper-responsiveness (BHR) and asthma. PCDH1 is located on chromosome 5q31-33, in the vicinity of several known candidate genes for asthma and allergy. To exclude that the associations observed for PCDH1 originate from the nearby cytokine cluster, an extensive linkage disequilibrium (LD) analysis was performed. Effects of polymorphisms in PCDH1 on asthma, BHR, and related phenotypes were studied comprehensively. Methods: Genotype information was acquired from Illumina HumanHap300Chip genotyping, MALDI-TOF MS genotyping, and imputation. LD was assessed by Haploview 4.2 software. Associations were investigated in a population of 1454 individuals (763 asthmatics) from two German study populations [MAGICS and International Study of Asthma and Allergies in Childhood phase II (ISAAC II)] using logistic regression to model additive effects. Results: No relevant LD between PCDH1 tagging polymorphisms and 98 single nucleotide polymorphisms within the cytokine cluster was detected. While BHR was not associated with PCDH1 polymorphisms, significant associations with subphenotypes of asthma were observed. Conclusion: Protocadherin-1 polymorphisms may specifically affect the development of non-atopic asthma in children. Functional studies are needed to further investigate the role of PCDH1 in BHR and asthma development.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Toncheva, Antoaneta A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Suttner, Kathrin UNSPECIFIED UNSPECIFIED UNSPECIFIED Michel, Sven UNSPECIFIED UNSPECIFIED UNSPECIFIED Klopp, Norman UNSPECIFIED UNSPECIFIED UNSPECIFIED Illig, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED Balschun, Tobias UNSPECIFIED UNSPECIFIED UNSPECIFIED Vogelberg, Christian UNSPECIFIED UNSPECIFIED UNSPECIFIED von Berg, Andrea UNSPECIFIED UNSPECIFIED UNSPECIFIED Bufe, Albrecht UNSPECIFIED orcid.org/0000-0001-7335-9362 UNSPECIFIED Heinzmann, Andrea UNSPECIFIED UNSPECIFIED UNSPECIFIED Laub, Otto UNSPECIFIED UNSPECIFIED UNSPECIFIED Rietschel, Ernst UNSPECIFIED UNSPECIFIED UNSPECIFIED Simma, Burkhard UNSPECIFIED UNSPECIFIED UNSPECIFIED Frischer, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED Genuneit, Jon UNSPECIFIED UNSPECIFIED UNSPECIFIED von Mutius, Erika UNSPECIFIED orcid.org/0000-0002-8893-4515 UNSPECIFIED Kabesch, Michael UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-480667
DOI:	10.1111/j.1399-3038.2012.01334.x
Journal or Publication Title:	Pediatr. Allergy Immunol.
Volume:	23
Number:	7
Page Range:	S. 636 - 642
Date:	2012
Publisher:	WILEY-BLACKWELL
Place of Publication:	HOBOKEN
ISSN:	0905-6157
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language ASSOCIATION; EXPRESSION; RISK Multiple languages Allergy; Immunology; Pediatrics Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/48066