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  Caspase recruitment domain 15 gene haplotypes in sarcoidosis

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.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7949-6 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-794B-2
Genre: Journal Article

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 Creators:
Pabst, S., Author
Golebiewski, M., Author
Herms, S., Author
Karpushova, A., Author
Diaz-Lacava, A., Author
Walier, M.1, Author              
Zimmer, S., Author
Cichon, S., Author
Wienker, T. F.2, Author              
Nothen, M. M., Author
Nickenig, G., Author
Meyer, R., Author
Skowasch, D., Author
Grohe, C., Author
Affiliations:
1Dept. of Developmental Genetics (Head: Bernhard G. Herrmann), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433548              
2Clinical Genetics (Thomas F. Wienker), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479643              

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Free keywords: Adult; Aged; Cohort Studies; European Continental Ancestry Group/genetics; Female; Genetic Predisposition to Disease; Haplotypes/*genetics; Humans; Male; Middle Aged; *Mutation; *Nod2 Signaling Adaptor Protein; *Polymorphism, Single Nucleotide; Sarcoidosis/*genetics/pathology
 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.

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 Dates: 2011
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 584833
DOI: 10.1111/j.1399-0039.2010.01628.x
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Title: Tissue Antigens
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 77 (4) Sequence Number: - Start / End Page: 333 - 337 Identifier: ISSN: 1399-0039 (Electronic) 0001-2815 (Print)