SIGNIFICANTLY HIGH INCIDENCE OF T-1654C POLYMORPHIC VARIATION IN THE PROTEIN C GENE PROMOTER REGION IN EARLY ONSET LEGG-CALVE' PERTHES DISEASE

Authors

  • Rohit Kumar Pokharel Kobe University, School of Medicine International Center for Medical Research
  • S Fujii Hyogo prefectural hospital for disabled children, "Nojigiku"
  • R Shiba Hyogo prefectural hospital for disabled children, "Nojigiku"
  • M Matsuo Kobe University, School of Medicine International Center for Medical Research.

DOI:

https://doi.org/10.31729/jnma.618

Abstract

Inherited thrombophilia has been suggested as a cause of micro-thrombosis resulting in femoral head necrosis
in Legg-Calve' Perthes Disease (LCPD). Protein C, hepatic zymogens, acts as a thrombotic agent and regulates
the coagulation cascade. Genotype variations in the promoter region of the protein C gene (T-1654C; A-
1641G & A-1476T) have been reported to be associated with plasma protein C levels and thrombotic risk.
In order to clarify any association of these polymorphic variations to LCPD, we analyzed the promoter
region of gene for protein C (from –1704 to –1198 nt) in 70 Japanese LCPD cases (8 early-onset & 62 lateonset
type) and 93 controls.
Results of direct sequencing of the protein C gene promoter region showed a significantly high incidence of
T-1654C change in early-onset LCPD cases than among the late-onset LCPD and control groups. Our
results, therefore, suggest a significant association between early onset LCPD and the T-1654C mutation in
the protein C promoter region.

Key Words: Protein C gene promoter region polymorphism, micro thrombosis, early-onset LCPD.

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Published

2003-09-01

How to Cite

Pokharel, R. K., Fujii, S., Shiba, R., & Matsuo, M. (2003). SIGNIFICANTLY HIGH INCIDENCE OF T-1654C POLYMORPHIC VARIATION IN THE PROTEIN C GENE PROMOTER REGION IN EARLY ONSET LEGG-CALVE’ PERTHES DISEASE. Journal of Nepal Medical Association, 42(149), 254–9. https://doi.org/10.31729/jnma.618

Issue

Vol. 42 No. 149 (2003)

Section

Original Article

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