|
KMID : 0311120080490030405
|
|
Yonsei Medical Journal
2008 Volume.49 No. 3 p.405 ~ p.408
|
|
|
Frequency of Pro475Ser Polymorphism of ADAMTS13 Gene and Its Association with ADAMTS-13 Activity in the Korean Population
|
|
Jang Moon-Ju
Chong So-Young
Kang Myung-Seo
Oh Do-yeun
Kim Hye-Jin
Kim Nam-Keun
Lee Seon-Ju
|
|
|
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.
|
|
|
KEYWORD
|
|
|
ADAMTS-13, polymorphism, thrombotic thromobocytopenic purpura
|
|
|
FullTexts / Linksout information
|
|
 
|
|
|
Listed journal information
|
|
   
|