Hereditary protein C deficiency in Indian patients with venous thrombosis

Ann Hematol. 2012 Sep;91(9):1471-6. doi: 10.1007/s00277-012-1483-5. Epub 2012 May 11.

Abstract

Approximately, 4-11 % of the patients with idiopathic venous thrombosis (VT) show protein C (PC) deficiency. The molecular pathology of PC deficiency was analyzed in 102 patients; 98 healthy controls were also studied to assess the association of various polymorphisms with reduced PC levels. PROC gene mutations were detected only in 8 (7.8 %) patients with reduced PC levels. PROC promoter region CG polymorphisms showed statistically significant association with reduced PC levels (p < 0.001). PC deficiency in Indian VT patients can, thus, largely be explained by PROC gene promoter CG polymorphisms; only a small fraction of the patients show specific mutations in PROC gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Carbon-Carbon Ligases / genetics
  • DNA Mutational Analysis
  • Female
  • Humans
  • India / epidemiology
  • Male
  • Middle Aged
  • NADPH Dehydrogenase / genetics
  • Polymorphism, Genetic
  • Promoter Regions, Genetic
  • Protein C / genetics
  • Protein C Deficiency / complications*
  • Protein C Deficiency / epidemiology
  • Protein C Deficiency / genetics
  • Thrombophilia / epidemiology
  • Thrombophilia / genetics*
  • Venous Thrombosis / etiology*
  • Young Adult

Substances

  • Protein C
  • NADPH Dehydrogenase
  • Carbon-Carbon Ligases
  • glutamyl carboxylase