Frequency of Pro475Ser Polymorphism of ADAMTS13 Gene and Its Association with ADAMTS-13 Activity in the Korean Population
Yonsei Medical Journal
; : 405-408, 2008.
Article
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| ID: wpr-79513
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WPRO
ABSTRACT
PURPOSE: The in vitro study suggested that proline to serine polymorphism in codon 475 (C1423T) of the A Disintegrin and Metalloprotease with ThromboSpondin type 1 repeats-13 (ADAMTS-13) gene is related to reduced activity of ADAMTS- 13. In this study, the frequency of the Pro475Ser polymorphism in Koreans was studied and plasma ADAMTS-13 activity was measured to find out whether this polymorphism contributes to decreased ADAMTS-13 activity in Koreans. PATIENTS AND METHODS: The frequency of the C1423T allele of the ADAMTS13 gene was studied along with measuring plasma ADAMTS-13 activity in 250 healthy Korean individuals. RESULTS: The allele frequency of C1423T polymorphism was 4%, and the median activity of CT type was 107 (69-143)%, which was lower than in controls with the CC genotype [118 (48-197)%, (p=0.021)]. CONCLUSION: Therefore, the Pro475Ser polymorphism seems to be popular in the Korean population, and attenuates ADAMTS-13 plasma activity.
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Banco de datos:
WPRIM
Asunto principal:
Polimorfismo Genético
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Transferencia Resonante de Energía de Fluorescencia
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Pueblo Asiatico
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Proteínas ADAM
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Frecuencia de los Genes
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Genotipo
Límite:
Humans
Idioma:
En
Revista:
Yonsei Medical Journal
Año:
2008
Tipo del documento:
Article