Replication Study of the Association of GAS6 and PROS1 Polymorphisms with Behçet's Disease in a Japanese Population
PURPOSE: To investigate whether polymorphisms of GAS6 and PROS1, which each encode protein ligands for a family of tyrosine kinase receptors, are associated with Behçet's disease (BD) in a Japanese population.
METHODS: We recruited 734 Japanese patients with BD and 1789 Japanese healthy controls. In all participants, we genotyped two single-nucleotide polymorphisms (SNPs) reportedly associated with BD: rs9577873 in GAS6 and rs4857037 in PROS1.
RESULTS: We found that GAS6 rs9577873 was not significantly associated with BD. In contrast, PROS1 rs4857037, specifically the A allele, was associated with increased risk for BD. The A allele was also significantly associated with BD under additive and recessive genetic models. Expression analysis revealed that this allele was significantly associated with increased PROS1 expression.
CONCLUSIONS: Our findings suggest that increased PROS1 expression related to the A risk allele of rs4857037 affects tyrosine kinase receptor signaling, contributing to the development of BD.
Medienart: |
E-Artikel |
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Erscheinungsjahr: |
2024 |
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Erschienen: |
2024 |
Enthalten in: |
Zur Gesamtaufnahme - volume:32 |
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Enthalten in: |
Ocular immunology and inflammation - 32(2024), 4 vom: 20. Apr., Seite 447-453 |
Sprache: |
Englisch |
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Beteiligte Personen: |
Teshigawara, Takeshi [VerfasserIn] |
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Links: |
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Themen: |
Association study |
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Anmerkungen: |
Date Completed 24.04.2024 Date Revised 24.04.2024 published: Print-Electronic Citation Status MEDLINE |
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doi: |
10.1080/09273948.2023.2173239 |
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funding: |
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Förderinstitution / Projekttitel: |
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PPN (Katalog-ID): |
NLM356366987 |
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520 | |a PURPOSE: To investigate whether polymorphisms of GAS6 and PROS1, which each encode protein ligands for a family of tyrosine kinase receptors, are associated with Behçet's disease (BD) in a Japanese population | ||
520 | |a METHODS: We recruited 734 Japanese patients with BD and 1789 Japanese healthy controls. In all participants, we genotyped two single-nucleotide polymorphisms (SNPs) reportedly associated with BD: rs9577873 in GAS6 and rs4857037 in PROS1 | ||
520 | |a RESULTS: We found that GAS6 rs9577873 was not significantly associated with BD. In contrast, PROS1 rs4857037, specifically the A allele, was associated with increased risk for BD. The A allele was also significantly associated with BD under additive and recessive genetic models. Expression analysis revealed that this allele was significantly associated with increased PROS1 expression | ||
520 | |a CONCLUSIONS: Our findings suggest that increased PROS1 expression related to the A risk allele of rs4857037 affects tyrosine kinase receptor signaling, contributing to the development of BD | ||
650 | 4 | |a Journal Article | |
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700 | 1 | |a Takeuchi, Masaki |e verfasserin |4 aut | |
700 | 1 | |a Ishido, Mizuho |e verfasserin |4 aut | |
700 | 1 | |a Soejima, Yutaro |e verfasserin |4 aut | |
700 | 1 | |a Hirahara, Lisa |e verfasserin |4 aut | |
700 | 1 | |a Kirino, Yohei |e verfasserin |4 aut | |
700 | 1 | |a Ohno, Shigeaki |e verfasserin |4 aut | |
700 | 1 | |a Mizuki, Nobuhisa |e verfasserin |4 aut | |
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