Variant:

rs35350960 at chr2:234669619 in UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 (VIP)

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.

There are 2 annotations for this variant. Register or sign in to see them.

VIP Variant in UGT1A1

UGT1A1:*27
The "686C>A" (numbered with the 'a' of the start codon as 1) exon 1 polymorphism (P229Q; UGT1A1*27) has been observed in Asian populations, but at a lower allele frequency than G71R (UGT1A1*6). Occurring with a frequency between 0.005 and 0.028 in the Japanese and Taiwanese populations [Article:15179405, 9784835, 10975608], it was also observed at a frequency of 0.049 in a Japanese Gilbert syndrome sample [Article:15304120]. In vitro functional experiments revealed that the UGT1A1 enzyme containing the UGT1A1*27 variant only retains 7% of its residual wildtype activity level, indicating this variant could act as a molecular determinant of irinotecan response [Article:8528206, 12181437].

Publications related to rs35350960 at chr2:234669619: 8

VA	Racial variability in haplotype frequencies of UGT1A1 and glucuronidation activity of a novel single nucleotide polymorphism 686C> T (P229L) found in an African-American. Drug metabolism and disposition: the biological fate of chemicals. 2005. Kaniwa Nahoko, et al. [Article:15572581@PubMed]
VIP	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]
VIP	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]
VIP	Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects. Journal of gastroenterology and hepatology. 2004. Takeuchi Keisuke, et al. [Article:15304120@PubMed]
VA VIP	Common human UGT1A polymorphisms and the altered metabolism of irinotecan active metabolite 7-ethyl-10-hydroxycamptothecin (SN-38). Molecular pharmacology. 2002. Gagné Jean-François, et al. [Article:12181437@PubMed]
VIP	Variations of the bilirubin uridine-diphosphoglucuronosyl transferase 1A1 gene in healthy Taiwanese. Pharmacogenetics. 2000. Huang C S, et al. [Article:10975608@PubMed]
VIP	Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese. Biochemistry and molecular biology international. 1998. Akaba K, et al. [Article:9784835@PubMed]
VIP	Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. Human molecular genetics. 1995. Koiwai O, et al. [Article:8528206@PubMed]

Cross-References

Platform Availability

• Illumina

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