Yonsei Med J.  2008 Jun;49(3):405-408. 10.3349/ymj.2008.49.3.405.

Frequency of Pro475Ser Polymorphism of ADAMTS13 Gene and Its Association with ADAMTS-13 Activity in the Korean Population

Affiliations
  • 1Department of Internal Medicine, Bundang CHA Hospital, College of Medicine, Pochon CHA University, Sungnam, Korea. doh@cha.ac.kr
  • 2Department of Laboratory Medicine, Bundang CHA Hospital, College of Medicine, Pochon CHA University, Sungnam, Korea.
  • 3Institute for Clinical Research, Bundang CHA Hospital, College of Medicine, Pochon CHA University, Sungnam, Korea.

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

MeSH Terms

ADAM Proteins/blood/*genetics/metabolism
Asian Continental Ancestry Group
Fluorescence Resonance Energy Transfer
Gene Frequency
Genotype
Humans
*Polymorphism, Genetic
Full Text Links
  • YMJ
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
    DB Error: unknown error