Study of hemostasis gene polymorphisms in patients with gout
Abstract Background Gout is a chronic metabolic disorder frequently complicated by thrombotic events. Genetic variants in hemostasis-related genes may contribute to individual susceptibility to thrombosis in gout patients. Objective To assess the association between polymorphisms in hemostasis genes...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2025-07-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43042-025-00753-0 |
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| Summary: | Abstract Background Gout is a chronic metabolic disorder frequently complicated by thrombotic events. Genetic variants in hemostasis-related genes may contribute to individual susceptibility to thrombosis in gout patients. Objective To assess the association between polymorphisms in hemostasis genes and thrombotic risk in patients with gout. Methods A case–control study was conducted involving 83 patients with gout and 41 healthy controls. Genomic DNA was extracted from peripheral blood leukocytes. Polymorphisms in MTHFR (C677T), F2 (G20210A), F5 (G1691A), and PAI-1 (675 4G/5G) genes were analyzed using multiplex TaqMan real-time PCR. Results Significant differences were observed for MTHFR C677T and PAI-1 4G/5G polymorphisms. The MTHFR CC and PAI-1 4G/4G genotypes were more frequent in the gout group, potentially indicating increased thrombotic risk. In contrast, the MTHFR CT and PAI-1 5G/5G genotypes were more common in controls. No statistically significant associations were found for F2 and F5 variants. Conclusion Our findings suggest that MTHFR C677T and PAI-1 4G/5G polymorphisms may contribute to thrombotic predisposition in patients with gout. These results underscore the need for further research to clarify the clinical relevance of these variants in thrombosis risk stratification. |
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| ISSN: | 2090-2441 |