Frequency of Pro475Ser Polymorphism of ADAMTS13 Gene and Its Association with ADAMTS-13 Activity in the Korean Population
Yonsei Medical Journal
;
: 405-408, 2008.
Artigo
em Inglês
| WPRIM
| ID: wpr-79513
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 ANDMETHODS:
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Polimorfismo Genético
/
Transferência Ressonante de Energia de Fluorescência
/
Povo Asiático
/
Proteínas ADAM
/
Frequência do Gene
/
Genótipo
Limite:
Humanos
Idioma:
Inglês
Revista:
Yonsei Medical Journal
Ano de publicação:
2008
Tipo de documento:
Artigo
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