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Functional variant ANXA11 R230C: true marker of protection and candidate disease modifier in sarcoidosis

Genes & Immunity volume 12, pages 490–494 (2011)Cite this article

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Abstract

In the recent genome-wide association study the polymorphisms of annexin A11 (ANXA11) gene were associated with susceptibility to sarcoidosis. Beside the replication of this finding and analysis of local ANXA11 expression in bronchoalveolar lavage cells, we wondered whether ‘leading’ ANXA11 rs1049550 (R230C) variant might also be related to the clinical manifestation of sarcoidosis. The study included 245 Czech patients with sarcoidosis and 254 healthy control subjects. The frequency of ANXA11*T allele was significantly lower in patients with sarcoidosis (35%) compared with controls (42%, P=0.04, odds ratio=0.77). Furthermore, ANXA11*T allele was less frequent in patients with the infiltration of lung parenchyma by comparison with those with isolated hilar lymphadenopathy (P=0.01). In line with the previous observation, ANXA11 mRNA expression was not deregulated in sarcoidosis and was independent from rs1049550 variant. In conclusion, ANXA11 rs1049550 single nucleotide polymorphism is the susceptibility marker in sarcoidosis, at least in Caucasians. Its role as a disease modifier should be independently replicated.

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Acknowledgements

Funding for this study was obtained from the Czech Ministry of Health (IGA MZ CR NT/11117), Czech Ministry of Education (MSM6198959205) and in part also by Internal Grant Agency of Palacky University (IGA PU project SV LF_2010_008).

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Authors and Affiliations

  1. Laboratory of Immunogenomics and Proteomics, Dept of Immunology, Medical Faculty of Palacky University and University Hospital, Olomouc, Czech Republic

    F Mrazek, A Stahelova, E Kriegova, R Fillerova & M Petrek

  2. Department of Pulmonary Diseases and Tuberculosis, Medical Faculty of Palacky University and University Hospital, Olomouc, Czech Republic

    M Zurkova & V Kolek

  3. Institute of Molecular and Translational Medicine, Medical Faculty of Palacky University and University Hospital, Olomouc, Czech Republic

    M Petrek

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  1. F Mrazek
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  2. A Stahelova
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  6. V Kolek
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Correspondence to F Mrazek.

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Mrazek, F., Stahelova, A., Kriegova, E. et al. Functional variant ANXA11 R230C: true marker of protection and candidate disease modifier in sarcoidosis. Genes Immun 12, 490–494 (2011). https://doi.org/10.1038/gene.2011.27

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  • DOI: https://doi.org/10.1038/gene.2011.27

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