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Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis
A. Meguro, M. Ishihara, M. Petrek, K. Yamamoto, M. Takeuchi, F. Mrazek, V. Kolek, A. Benicka, T. Yamane, E. Shibuya, A. Yoshino, A. Isomoto, M. Ota, K. Yatsu, N. Shijubo, S. Nagai, E. Yamaguchi, T. Yamaguchi, K. Namba, T. Kaburaki, H. Takase, SI....
Language English Country Great Britain
Document type Journal Article, Meta-Analysis, Research Support, Non-U.S. Gov't
Persistent link
https://www.medvik.cz/link/bmc21020245
Online
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- MeSH
- Alleles MeSH
- Genome-Wide Association Study MeSH
- Chemokine CCL24 genetics metabolism MeSH
- Genetic Predisposition to Disease * MeSH
- Genetic Association Studies MeSH
- Genotype MeSH
- Polymorphism, Single Nucleotide MeSH
- Humans MeSH
- Quantitative Trait Loci MeSH
- Odds Ratio MeSH
- Receptors, Interleukin genetics metabolism MeSH
- Sarcoidosis diagnosis etiology metabolism MeSH
- Cytochrome P-450 Enzyme System genetics metabolism MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Meta-Analysis MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Japan MeSH
Sarcoidosis is a genetically complex systemic inflammatory disease that affects multiple organs. We present a GWAS of a Japanese cohort (700 sarcoidosis cases and 886 controls) with replication in independent samples from Japan (931 cases and 1,042 controls) and the Czech Republic (265 cases and 264 controls). We identified three loci outside the HLA complex, CCL24, STYXL1-SRRM3, and C1orf141-IL23R, which showed genome-wide significant associations (P < 5.0 × 10-8) with sarcoidosis; CCL24 and STYXL1-SRRM3 were novel. The disease-risk alleles in CCL24 and IL23R were associated with reduced CCL24 and IL23R expression, respectively. The disease-risk allele in STYXL1-SRRM3 was associated with elevated POR expression. These results suggest that genetic control of CCL24, POR, and IL23R expression contribute to the pathogenesis of sarcoidosis. We speculate that the CCL24 risk allele might be involved in a polarized Th1 response in sarcoidosis, and that POR and IL23R risk alleles may lead to diminished host defense against sarcoidosis pathogens.
Department of Ophthalmology Kono Medical Clinic 3 30 28 Soshigaya Setagaya ku Tokyo 157 0072 Japan
Department of Ophthalmology Nippon Medical School 1 1 5 Sendagi Bunkyo ku Tokyo 113 8602 Japan
INSERM Franco Japanese Laboratoire International Associé Nextgen HLA Laboratory Nagano Japan
INSERM Franco Japanese Laboratoire International Associé Nextgen HLA Laboratory Strasbourg France
Yuasa Eye Clinic 3 1 1 Nishimoto cho Nishi ku Osaka 550 0005 Japan
References provided by Crossref.org
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- $a Meguro, Akira $u Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, Kanagawa, 236-0004, Japan
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- $a Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis / $c A. Meguro, M. Ishihara, M. Petrek, K. Yamamoto, M. Takeuchi, F. Mrazek, V. Kolek, A. Benicka, T. Yamane, E. Shibuya, A. Yoshino, A. Isomoto, M. Ota, K. Yatsu, N. Shijubo, S. Nagai, E. Yamaguchi, T. Yamaguchi, K. Namba, T. Kaburaki, H. Takase, SI. Morimoto, J. Hori, K. Kono, H. Goto, T. Suda, S. Ikushima, Y. Ando, S. Takenaka, M. Takeuchi, T. Yuasa, K. Sugisaki, N. Ohguro, M. Hiraoka, N. Kitaichi, Y. Sugiyama, N. Horita, Y. Asukata, T. Kawagoe, I. Kimura, M. Ishido, H. Inoko, M. Mochizuki, S. Ohno, S. Bahram, EF. Remmers, DL. Kastner, N. Mizuki
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- $a Sarcoidosis is a genetically complex systemic inflammatory disease that affects multiple organs. We present a GWAS of a Japanese cohort (700 sarcoidosis cases and 886 controls) with replication in independent samples from Japan (931 cases and 1,042 controls) and the Czech Republic (265 cases and 264 controls). We identified three loci outside the HLA complex, CCL24, STYXL1-SRRM3, and C1orf141-IL23R, which showed genome-wide significant associations (P < 5.0 × 10-8) with sarcoidosis; CCL24 and STYXL1-SRRM3 were novel. The disease-risk alleles in CCL24 and IL23R were associated with reduced CCL24 and IL23R expression, respectively. The disease-risk allele in STYXL1-SRRM3 was associated with elevated POR expression. These results suggest that genetic control of CCL24, POR, and IL23R expression contribute to the pathogenesis of sarcoidosis. We speculate that the CCL24 risk allele might be involved in a polarized Th1 response in sarcoidosis, and that POR and IL23R risk alleles may lead to diminished host defense against sarcoidosis pathogens.
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