PharmGKB summary: very important pharmacogene information for G6PD. [artículo]
Por: Bautista, José M [Instituto de Investigación i+12]
.
Colaborador(es): Instituto de Investigación imas12.
Editor: Pharmacogenetics and Genomics, 2012Descripción: 22(3):219-28.Recursos en línea: Solicitar documento Resumen: Glucose-6-phosphate dehydrogenase (G6PD) was one of the first genes found to be associated with variable drug response. It is also very polymorphic, with G6PD deficiency found in more than 300 million people worldwide [1]. Here, we provide an overview of
G6PD as a very important pharmacogene, and detail genetic variants and haplotypes associated with drug response (Although most G6PD variants are caused by single nucleotide polymorphisms (SNPs) in the coding region of the G6PD gene at the X chromosome, due to the heterogeneity of alleles causing G6PD deficiency; here, we use the term ‘haplotype’ to define the set of linked SNPs in a G6PD variant that are inherited
together and that may or may not produce G6PD deficiency).
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Artículo
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Formato Vancouver:
McDonagh EM, Thorn CF, Bautista JM, Youngster I, Altman RB, Klein TE. PharmGKB summary: very important pharmacogene information for G6PD. Pharmacogenet Genomics. 2012 Mar;22(3):219-28.
PMID: 22237549
Contiene 116 referencias
Glucose-6-phosphate dehydrogenase (G6PD) was one of the first genes found to be associated with variable drug response. It is also very polymorphic, with G6PD deficiency found in more than 300 million people worldwide [1]. Here, we provide an overview of
G6PD as a very important pharmacogene, and detail genetic variants and haplotypes associated with drug response (Although most G6PD variants are caused by single nucleotide polymorphisms (SNPs) in the coding region of the G6PD gene at the X chromosome, due to the heterogeneity of alleles causing G6PD deficiency; here, we use the term ‘haplotype’ to define the set of linked SNPs in a G6PD variant that are inherited
together and that may or may not produce G6PD deficiency).
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