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Journal Article

Caspase recruitment domain 15 gene haplotypes in sarcoidosis

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Walier,  M.
Dept. of Developmental Genetics (Head: Bernhard G. Herrmann), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Wienker,  T. F.
Clinical Genetics (Thomas F. Wienker), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Citation

Pabst, S., Golebiewski, M., Herms, S., Karpushova, A., Diaz-Lacava, A., Walier, M., et al. (2011). Caspase recruitment domain 15 gene haplotypes in sarcoidosis. Tissue Antigens, 77(4), 333-337. doi:10.1111/j.1399-0039.2010.01628.x.


Cite as: https://hdl.handle.net/11858/00-001M-0000-0010-7949-6
Abstract
Sarcoidosis is a systematic granulomatous disorder. Genetic susceptibility could play a central role in the disease development and progression. In this study, we investigated whether caspase recruitment domain 15 (CARD15) gene haplotypes are associated with the onset or the clinical course of sarcoidosis. Three hundred Caucasian sarcoidosis patients and 381 matched controls were included. Eight haplotype-tagging single nucleotide polymorphisms (SNPs) in the CARD15 gene were examined by mass spectrometry-based SNP genotyping. By haplotype analysis, mutations located in between tested SNPs can also be identified. Therefore, we can conclude that there is no association between the CARD15 gene and the development or a special phenotype of sarcoidosis in our cohort.