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DIYgenomics Drug Reponse Web Application

Side-by-side comparison of locus, gene and variant information for 200 drugs (clopidogrel (Plavix), morphine, sildenafil (Viagra), warfarin, etc.). If a variant is reviewed, the underlying research references cited are posted in the table below. 'Sample data' is information from one person's 23andme file; not all the variants reviewed for drugs are genotyped currently by 23andme. One or two variant mutations could be interpreted as the usual dose of the drug possibly being 'less efficacious.' Green is the normal genotype, red is the mutation. * means that the FDA has validated genomic biomarkers for this drug. 'Rank' is a composite score assigned to the variant by DIYgenomics per journal ranking, number of cases and controls, p-value, and odds ratio (rank assessment methodology).

NOTE: The information on this page is intended for research and educational purposes only, and is not for diagnostic use.

Variants reviewed for Abacavir*

Locus Gene Variant PharmGKB Navigenics 23andMe Pathway Genomics dbSNP (Nrml/Rsk) Sample data Rank
chr6:31447936 HLA rs3828917 5,7,8,9,10,11,12,13 G/T GG 5
chr6:31539759 HCP5 rs2395029 1,3,4,6,7,8 3,8 2,8,9 T/G TT 3
chr6:31654768 LTB; LST1; TNF rs3093726 1,3,6,7,8 C/T TT 4

Research references cited by genomic companies or research entities:

  1. Abel S et al; Abacavir hypersensitivity; N Engl J Med; 2008 Jun 5; 358(23):2515.
  2. Colombo S et al; The HCP5 single-nucleotide polymorphism: a simple screening tool for prediction of hypersensitivity reaction to abacavir; J Infect Dis; 2008 Sep 15; 198(6):864-7.
  3. de Bakker PI et al; A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC; Nat Genet; 2006 Oct; 38(10):1166-72.
  4. Fellay J et al; A whole-genome association study of major determinants for host control of HIV-1; Science; 2007 Aug 17; 317(5840):944-7.
  5. Hetherington S et al; Genetic variations in HLA-B region and hypersensitivity reactions to abacavir; Lancet; 2002 Mar 30; 359(9312):1121-2.
  6. Hughes DA et al; Cost-effectiveness analysis of HLA B*5701 genotyping in preventing abacavir hypersensitivity; Pharmacogenetics; 2004 Jun; 14(6):335-42.
  7. Mallal S et al; Association between presence of HLA-B*5701 HLA-DR7 and HLA-DQ3 and hypersensitivity to HIV-1 reverse-transcriptase inhibitor abacavir; Lancet; 2002 Mar 2; 359(9308):727-32.
  8. Mallal S et al; HLA-B*5701 screening for hypersensitivity to abacavir; N Engl J Med; 2008 Feb 7; 358(6):568-79.
  9. Martin AM et al; Predisposition to abacavir hypersensitivity conferred by HLA-B*5701 and a haplotypic Hsp70-Hom variant; Proc Natl Acad Sci U S A; 2004 Mar 23; 101(12):4180-5.
  10. Park WB et al; Should HLA-B*5701 screening be performed in every ethnic group before starting abacavir?; Clin Infect Dis; 2009 Feb 1; 48(3):365-7.
  11. Peyrieere H et al; Hypersensitivity related to abacavir in two members of a family; Ann Pharmacother; 2001 Oct; 35(10):1291-2.
  12. Phillips EJ et al; Genetic screening to prevent abacavir hypersensitivity reaction: are we there yet?; Clin Infect Dis; 2006 Jul 1; 43(1):103-5.
  13. Rauch A et al; Prospective genetic screening decreases the incidence of abacavir hypersensitivity reactions in the Western Australian HIV cohort study; Clin Infect Dis; 2006 Jul1; 43(1):99-102.

Glossary:
Locus (plural loci): the specific location of a gene or DNA sequence on a chromosome, (e.g.; 8p21.1 is the p21.1 region on Chromosome 8).
Gene: a series of variants at a locus that code for proteins or RNA chains.
Variant: the specific location with two alleles (e.g.; 'CG') or genotype values. Companies may review different variants in the same gene and locus.

Software licensing: BSD (DIYgenomics GitHub)


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