Important Variant Information for GSTP1
Submitted by: Sharon Marsh, Derek J. Van Booven, Howard L. McLeod (CREATE)
Reviewed by: Under Review
Submitted date: April 14th, 2008
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There are Two Important Variants for GSTP1.
| Gene HGNC Name: | GSTP1 |
|---|---|
| Variant Summary: | The non-synonymous polymorphism GSTP1 313A>G (I105V in exon 5, sometimes labeled GSTP1*B) has been associated with reduced enzyme activity and anticancer drug resistance and toxicity [9498276 15213713 16707601]. The allele frequency of the GSTP1 I105V polymorphism varies widely both among and between populations [11751440]. The frequency has been reported to be as low as 14% (South Africa) [12435115] and as high as 53% (The Gambia) [10728587]. Caucasians have an allele frequency of 28-38% [15093273 11307147], Asians 16-26% [10413721], and Africans from 14-53% [12435115 10728587]. Population data available at http://pgeni.unc.edu/snp.asp?sid=256\\ In 106 colorectal cancer patients receiving oxaliplatin, the GSTP1 I105V polymorphism was associated with survival (p=0.072) [15213713], and increased risk of progression (p=0.018) [15213713]. In 108 NSCLC patients treated with platinum therapy, a decreased risk was found for neutropenia in patients with the GSTP1 105V allele (p=0.02) [17409936]. However, in 166 colorectal cancer patients receiving oxaliplatin and 5-fluorouracil, the GSTP1 105V allele was associated with increased risk of neutropenia [17401013]. A recent study also identified GSTP1 I105V as a risk factor for the early onset of neurotoxicity from oxaliplatin treatment in colorectal cancer patients (Grothey et al, ASCO 2005), and in 90 patients receiving oxaliplatin the risk of neuropathy was significantly higher in patients homozygous for the GSTP1 105I allele (p= 0.02) 16707601 |
| Key PubMed IDs: | 9498276 17409936 17401013 16707601 12435115 10728587 15093273 11307147 10413721 11751440 |
| Genomic Variant & GenBank ID: | 2627A>G on M24485 |
| mRNA Variant & GenBank ID: | 342A>G on NM_000852 |
| Protein Variant & GenBank ID: | I105V on NP_000843 |
| dbSNP rs#: | rs1695 |
| GoldenPath Position: | chr11:67109265 on hg18 |
| Key Drugs/Substrates: | oxaliplatin 15213713 cyclophosphamide 16995867 cisplatin 15254763 doxorubicin 11351295 etoposide 12969965 pyrimethamine 11807801 |
| Key Phenotypes/Diseases: | N/A |
| Phenotype Data Sets: | Pharmacogenetic Risk Factors for Osteonecrosis of the Hip Among Children With Leukemia, Pharmacokinetics of etoposide, catechol metabolite, RNA expression in metabolite and transport genes |
| Gene HGNC Name: | GSTP1 |
|---|---|
| Variant Summary: | The GSTP1 A114V polymorphism is less well studied and its pharmacogenetic significance is unclear. The variant allele is almost always found in linkage disequilibrium with GSTP1 I105V (combination sometimes labeled GSTP1*C). However, the GSTP1 A114V polymorphism occurs at a lower frequency, and does not appear to alter enzyme activity [9498276]. Frequency of the GSTP1 A114V polymorphism ranges from 5% in African Americans to 9% in European Americans [9498276]. |
| Key PubMed IDs: | 9498276 |
| Genomic Variant & GenBank ID: | 3517C>T on M24485 |
| mRNA Variant & GenBank ID: | 370C>T on NM_000852 |
| Protein Variant & GenBank ID: | A114V on NP_000843 |
| dbSNP rs#: | rs1138272 |
| GoldenPath Position: | chr11:67110155 on hg18 |
| Key Drugs/Substrates: | oxaliplatin 15213713 cyclophosphamide 16995867 cisplatin 15254763 doxorubicin 11351295 etoposide 12969965 pyrimethamine 11807801 |
| Key Phenotypes/Diseases: | N/A |
| Phenotype Data Sets: | Pharmacogenetic Risk Factors for Osteonecrosis of the Hip Among Children With Leukemia, Pharmacokinetics of etoposide, catechol metabolite, RNA expression in metabolite and transport genes |