Frequency of Pro475Ser Polymorphism of ADAMTS13 Gene and Its Association with ADAMTS-13 Activity in the Korean Population.
10.3349/ymj.2008.49.3.405
- Author:
Mun Ju JANG
1
;
Nam Keun KIM
;
So Young CHONG
;
Hye Jin KIM
;
Seon Ju LEE
;
Myung Seo KANG
;
Doyeun OH
Author Information
1. Department of Internal Medicine, Bundang CHA Hospital, College of Medicine, Pochon CHA University, Sungnam, Korea. doh@cha.ac.kr
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
ADAMTS-13;
polymorphism;
thrombotic thromobocytopenic purpura
- MeSH:
ADAM Proteins/blood/*genetics/metabolism;
Asian Continental Ancestry Group;
Fluorescence Resonance Energy Transfer;
Gene Frequency;
Genotype;
Humans;
*Polymorphism, Genetic
- From:Yonsei Medical Journal
2008;49(3):405-408
- CountryRepublic of Korea
- Language:English
-
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.
