title: Hereditary protein C deficiency in Indian patients with venous thrombosis.
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.
authors.affiliation: National Institute of Immunohaematology (ICMR), KEM Hospital Campus, Parel, Mumbai, 400012, India.
authors.forename: Navin
authors.initials: N
authors.lastname: Pai
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
authors.forename: Shrimati
authors.initials: S
authors.lastname: Shetty
mesh_terms: D000293:Adolescent; D000328:Adult; D019735:Carbon-Carbon Ligases / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009252:NADPH Dehydrogenase / Q000235:genetics; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D011486:Protein C / Q000235:genetics; D020151:Protein C Deficiency / Q000150:complications* / Q000453:epidemiology / Q000235:genetics; D019851:Thrombophilia / Q000453:epidemiology / Q000235:genetics*; D020246:Venous Thrombosis / Q000209:etiology*; D055815:Young Adult
chemical_list: D011486:Protein C; D009252:NADPH Dehydrogenase; D019735:Carbon-Carbon Ligases; C020660:glutamyl carboxylase