Frequency of Pro475Ser polymorphism of ADAMTS13 gene and its association with ADAMTS-13 activity in the Korean population

被引：13

作者：

Jang, Mun Ju ^{[1
]}

Kim, Nam Keun ^{[3
]}

Chong, So Young ^{[1
]}

Kim, Hye Jin ^{[3
]}

Lee, Seon Ju ^{[3
]}

Kang, Myung Seo ^{[2
]}

Oh, Doyeun ^{[1
,3
]}

机构：

[1] Pochon CHA Univ, Dept Internal Med, Coll Med, Songnam 463712, South Korea

[2] Pochon CHA Univ, Dept Lab Med, Coll Med, Songnam 463712, South Korea

[3] Pochon CHA Univ, Inst Clin Res, Coll Med, Bundang CHA Hosp, Songnam 463712, South Korea

来源：

YONSEI MEDICAL JOURNAL | 2008年 / 49卷 / 03期

关键词：

ADAMTS-13; polymorphism; thrombotic thromobocytopenic purpura;

D O I：

10.3349/ymj.2008.49.3.405

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 ADAMTS-13 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.

引用

页码：405 / 408

页数：4

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