Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1
Genet. mol. biol
;
26(4): 397-401, dec. 2003. tab
Article
in English
| LILACS
| ID: lil-355283
RESUMO
The -1185A/G polymorphism in the 5'-regulatory region of the von Willebrand factor (VWF) gene was associated with VWF plasma levels in a normal population. This study was undertaken to evaluate whether there is a relationship between this polymorphism and type 1 von Willebrand disease (VWD), a disorder characterized by a quantitative deficiency of VWF. The association between this polymorphism and plasma VWF levels in normal Brazilian individuals was also analyzed. Control subjects (n = 460) and type 1 VWD patients (n = 41) were studied. Polymerase chain reaction (PCR) amplification of the 864-bp VWF promoter region followed by AccII restriction-digestion was used to identify the -1185A/G genotypes. The -1185G allele frequency was 57 percent in normal individuals and 63 percent in type 1 VWD patients, this difference was not significant (p = 0.29). No significant association was observed between -1185A/G genotypes and VWF plasma levels in normal individuals, although VWF levels were in the same direction as those reported by another study, with subjects carrying the G allele having the lower levels. These results suggest that -1185A/G polymorphism is not associated with the partial deficiency of VWF in type 1 VWD patients.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Von Willebrand Diseases
/
Von Willebrand Factor
/
Polymerase Chain Reaction
Type of study:
Prognostic study
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
English
Journal:
Genet. mol. biol
Journal subject:
Genetics
Year:
2003
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade Federal do Rio Grande do Sul/BR
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