Variant Annotations
PharmGKB variant annotations provide information about variant-drug pairs based on individual PubMed publications. Each annotation represents information from a single paper and the goal is to report the information that the author states, not an interpretation of the paper. The PMID for supporting PubMed publications is found in the "Evidence" field.
Information presented, including study size, allele frequencies and statistics is taken directly from the publication. However, if the author does not correct p-values in cases of multiple hypotheses, curators may apply a Bonferroni correction. Curators attempt to report study size based on the actual number of participants used for the calculation of the association statistics, so the number may vary slightly from what is reported in the abstract of the paper. OMB Race Category information is derived from the paper and mapped to standardized categories. Category definitions may be found by clicking on the "OMB Race Category" link.
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VIP Variant in UGT1A1
UGT1A1:*93 (-3156G>A)
Identified in 2002 by Innocenti et al., -3156G>A is a common variant that is located in the Phenobarbital Response Enhancer Module (PBREM), a regulatory element positioned 3kb upstream of the UGT1A1 gene. The allele frequency of -3156A is 0.3 and does not differ significantly between Caucasian and African-American populations [Article:12464801], while the allele frequency of -3156A in Asian populations is estimated to be 0.1-0.13 [Article:15864130, 15179405]. The functional significance of the -3156G>A variant remains unknown, but individuals with the -3156G allele have been shown to have a lower level of total bilirubin. This PBREM variant may predict the likelihood of developing severe neutropenia after irinotecan administration [Article:15007088].
| Key Publications: | |
|---|---|
| Drugs / Other Molecules |
Drug (6)
|
| Diseases | Hyperbilirubinemia 11 |
| Phenotype |
|
| Phenotype Datasets | Irinotecan Clinical Data |
Appendix
gp position: chr2:234330521(hg18)
Connected Drugs
| Evidence | Drug |
|---|---|
| atazanavir | |
| etoposide | |
| irinotecan | |
| tranilast |
Connected Drug Classes
| Evidence | Drug Class |
|---|---|
| VIP Annotation | estrogens |
| VIP Annotation | thyroid hormones |
Publications related to rs10929302 at chr2:234665782: 4
| Haplotypes of variants in the UDP-glucuronosyltransferase1A9 and 1A1 genes. Pharmacogenetics and genomics. 2005. Innocenti Federico, et al. [Article:15864130@PubMed] | |
| UGT1A1 haplotypes associated with reduced glucuronidation and increased serum bilirubin in irinotecan-administered Japanese patients with cancer. Clinical pharmacology and therapeutics. 2004. Sai Kimie, et al. [Article:15179405@PubMed] | |
| Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2004. Innocenti Federico, et al. [Article:15007088@PubMed] | |
| Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups. Pharmacogenetics. 2002. Innocenti Federico, et al. [Article:12464801@PubMed] |
Cross-References
- UCSC Golden Path:
- chr2:234665782
- dbSNP:
- rs10929302
- HapMap:
- rs10929302
Platform Availability
- Illumina