Affiliations: University Children's Hospital, University of
Freiburg, Mathildenstr. 1, 79106 Freiburg, Germany
Note: [] Corresponding author: Dr. Andrea Heinzmann, University
Children's Hospital, University of Freiburg, Mathildenstr. 1, 79106 Freiburg,
Germany. Tel.: +49 761 2704300; Fax: +49 761 2706372; E-mail:
[email protected]
Abstract: Bronchial asthma and juvenile idiopathic arthritis (JIA) are complex
genetic diseases. As both represent chronic inflammatory diseases it is likely
that they are at least partially influenced by the same genetic variants. One
goal in dissecting the genetics of complex diseases is to identify a genetic
risk profile. Therefore it is necessary to genotype polymorphisms in many
different pathways. Thus we investigated 48 polymorphisms in 24 genes for
association with asthma and/or JIA. Genotpying was performed on 231 asthmatic children, 86 children with
JIA and 270 controls. Association analysis was performed by the Armitage's
trend test. Furthermore haplotypes were calculated by FAMHAP. We found association of polymorphisms within IL-4, CTLA4 and
TNFalpha with asthma and/or JIA. Furthermore, the polymorphisms showed an
inverse distribution between children with asthma and JIA. However, we were not
able to confirm association of most of the previously described candidate
genes. We conclude from our data that it might be very difficult to
identify genetic risk profiles for the development of asthma and/or JIA that
would be valid across different populations. However, this study adds further
evidence that the common genetic background of asthma and JIA is mainly based
on polymorphisms in important TH1 and TH2 cytokines.
