Genetic Variability of RXRB, PPARA, and PPARG in Wegener's GranulomatosisReport as inadecuate

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PPAR ResearchVolume 2009 2009, Article ID 786781, 5 pages

Research Article

Human Genetics Department, Ruhr University, 44801 Bochum, Germany

Department of Rheumatology, University Hospital Lübeck and Klinikum Bad Bramstedt, 24576 Bad Bramstedt, Germany

Received 29 August 2008; Revised 4 December 2008; Accepted 5 January 2009

Academic Editor: Mostafa Badr

Copyright © 2009 Stefan Wieczorek et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


A major genomic region involved in Wegener's granulomatosis includes the gene for retinoid receptor beta RXRB which forms heterodimers with peroxisome proliferator-activated receptors PPARs. It is unclear whether this association directly arises from the RXRB alleles or via a linked variation.In order to reveal any hitherto unknown and potentially disease-relevant variation of the RXRB gene, we have genotyped four tagging SNPs of this genomic region and have directly sequenced selected WG patients and controls representing disease-associated haplotypes. Additionally, we have genotyped 2 SNPs each in the genes for PPAR and PPAR PPARA and PPARG. Hence, we confirmed the strong association of the RXRB locus with WG but could not reveal any novel variation in RXRB. None of the PPARA and PPARG SNPs showed association with WG. Moreover, no epistatic effect was seen between RXRB and PPARA-PPARG alleles. These results do not support an etiopathological role of PPAR in WG. Analyses of further genes functionally linked to RXRB may provide additional data useful to evaluate the RXRB association found in WG.

Author: Stefan Wieczorek, Silvia Knaup, Wolfgang L. Gross, and Jörg T. Epplen



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