Semin Thromb Hemost 2000; Volume 26(Number 01): 011-016
DOI: 10.1055/s-2000-9796
Copyright © 2000 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4663

Studies on Congenital Protein C Deficiency in Japanese: Prevalence, Genetic Analysis, and Relevance to the Onset of Arterial Occlusive Diseases

Toshiyuki Sakata1 , Kazuomi Kario3 , Yoshiaki Katayama1 , Tatsuo Matsuyama1 , Hisao Kato2 , Toshiyuki Miyata2
  • 1Laboratory of Clinical Chemistry, National Cardiovascular Center, Osaka, Japan and
  • 3Research Institute, National Cardiovascular Center, Osaka, Japan and the
  • 2Department of Cardiology, Jichi Medical School, Tochigi, Japan
Further Information

Publication History

Publication Date:
31 December 2000 (online)

 

ABSTRACT

Hereditary protein C deficiency is associated with a predisposition to venous thrombosis. We identified 43 patients with protein C deficiency by screening approximately 26,800 patients admitted to the National Cardiovascular Center Hospital. The observed prevalence of protein C deficiency was 1 per 620. We performed genetic analyses of 57 Japanese families with protein C deficiency. Combined with the results of the other studies in 10 families, the 67 Japanese families with protein C deficiency have been examined and 39 different gene defects have been identified. Some changes were solely identified in Japanese subjects, whereas others showed no such ethnic bias. The recurrent defects of Phe139Val, Arg169Trp, Val297Met, and Met364Ile substitutions and a G8857 deletion were found in 33 Japanese families, accounting for 49% of Japanese families with protein C deficiency, Finally, we examined the relevance of protein C deficiency to the onset of arterial occlusive diseases. In the examination of whether protein C deficiency hastens arterial occlusion, we found a significant difference (p = 0.02) in the age at onset of acute myocardial infarction between the patients with protein C deficiency (n = 10: 49.4 ± 14.8 years) and a group of patients with normal protein C levels (n = 42: 60.5 ± 10.6 years). At the onset of atherothrombotic cerebral infarction, the patients with protein C deficiency were significantly (p = 0.022) younger (n = 11:57.4 ± 12.8 years) than those with normal protein C levels (n = 48: 64.6 ± 10.1 years). Thus, we conclude that congenital protein C deficiency hastens the onset of arterial occlusive diseases, especially acute myocardial infarction, in Japanese subjects.

KEYWORD

Protein C deficiency - prevalence - genetic analysis - arterial occlusion - acute myocardial infarction

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