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

• Published in: Yonsei medical journal Vol. 49; no. 3; pp. 405 - 408
• Main Authors: Jang, Mun Ju, Kim, Nam Keun, Chong, So Young, Kim, Hye Jin, Lee, Seon Ju, Kang, Myung Seo, Oh, Doyeun
• Format: Journal Article
• Language: English
• Published: Korea (South) Yonsei University College of Medicine 30.06.2008; 연세대학교의과대학
• Subjects: ADAM Proteins - blood; ADAM Proteins - genetics; ADAM Proteins - metabolism; ADAMTS13 Protein; Asian Continental Ancestry Group; Fluorescence Resonance Energy Transfer; Gene Frequency; Genotype; Humans; Original; Polymorphism, Genetic; 의학일반
• ISSN: 0513-5796; 1976-2437
• DOI: 10.3349/ymj.2008.49.3.405

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. The frequency of the C1423T allele of the ADAMTS13 gene was studied along with measuring plasma ADAMTS-13 activity in 250 healthy Korean individuals. 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)]. Therefore, the Pro475Ser polymorphism seems to be popular in the Korean population, and attenuates ADAMTS-13 plasma activity.