Toncheva, Antoaneta A. and Suttner, Kathrin and Michel, Sven and Klopp, Norman and Illig, Thomas and Balschun, Tobias and Vogelberg, Christian and von Berg, Andrea and Bufe, Albrecht and Heinzmann, Andrea and Laub, Otto and Rietschel, Ernst and Simma, Burkhard and Frischer, Thomas and Genuneit, Jon and von Mutius, Erika and Kabesch, Michael (2012) Genetic variants in Protocadherin-1, bronchial hyper-responsiveness, and asthma subphenotypes in German children. PEDIATRIC ALLERGY AND IMMUNOLOGY, 23 (7). pp. 636-641. ISSN 0905-6157,
Full text not available from this repository. (Request a copy)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: | Article |
|---|---|
| Uncontrolled Keywords: | ASSOCIATION; EXPRESSION; RISK; 5q31 cytokine gene cluster; linkage disequilibrium; Protocadherin-1; polymorphism |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Kinder- und Jugendmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 04 May 2020 12:18 |
| Last Modified: | 04 May 2020 12:18 |
| URI: | https://pred.uni-regensburg.de/id/eprint/17893 |
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