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

• Jang MJ
• Kim NK
• Chong SY
• Kim HJ
• Lee SJ
• Kang MS
• Oh D

• KMID: 724255
• DOI: http://doi.org/10.3349/ymj.2008.49.3.405

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

Figure

• 

  Fig. 1 Plasma ADAMTS-13 activity according to the genotype of C1423T polymorphism in a healthy Korean population.

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