Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1
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...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Genética
2003-12-01
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| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000400001 |
| _version_ | 1818236985070845952 |
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| author | Daniel Simon Eliane Bandinelli Israel Roisenberg |
| author_facet | Daniel Simon Eliane Bandinelli Israel Roisenberg |
| author_sort | Daniel Simon |
| collection | DOAJ |
| description | 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% in normal individuals and 63% 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. |
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| format | Article |
| id | doaj.art-32cfe3c72e004eb28de66077513a0866 |
| institution | Directory Open Access Journal |
| issn | 1415-4757 1678-4685 |
| language | English |
| last_indexed | 2024-12-12T12:18:33Z |
| publishDate | 2003-12-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-32cfe3c72e004eb28de66077513a08662022-12-22T00:24:43ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1415-47571678-46852003-12-0126439740110.1590/S1415-47572003000400001Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1Daniel SimonEliane BandinelliIsrael RoisenbergThe -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% in normal individuals and 63% 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000400001von Willebrand factorpromoter polymorphismsgeneticsvon Willebrand disease |
| spellingShingle | Daniel Simon Eliane Bandinelli Israel Roisenberg Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1 Genetics and Molecular Biology von Willebrand factor promoter polymorphisms genetics von Willebrand disease |
| title | Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1 |
| title_full | Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1 |
| title_fullStr | Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1 |
| title_full_unstemmed | Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1 |
| title_short | Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1 |
| title_sort | polymorphism in the promoter region of von willebrand factor gene and von willebrand disease type 1 |
| topic | von Willebrand factor promoter polymorphisms genetics von Willebrand disease |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000400001 |
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