PharmGKB summary

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). A more in-depth report, with interactive links to individual literature annotations, can be found at http://www.pharmgkb.org/gene/PA28469.