Frequency of Pro475Ser Polymorphism of ADAMTS13 Gene and Its Association with ADAMTS-13 Activity in
June 28th, 2008 | by admin |Frequency of Pro475Ser Polymorphism of ADAMTS13 Gene and Its Association with ADAMTS-13 Activity in the Korean Population.
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.
Jang MJ, Kim NK, Chong SY, Kim HJ, Lee SJ, Kang MS, Oh D.
Department of Internal Medicine, College of Medicine, Pochon CHA University, 351 Yatap-dong, Bundang-gu, Sungnam 463-712, Korea. doh@cha.ac.kr.