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 SULT1A1
Note: The SULT1A1 gene is found on the minus chromosomal strand. Please note that for standardization, the PharmGKB presents all allele base pairs on the positive chromosomal strand, therefore the alleles within our variant annotations and haplotypes may differ (in a complementary manner) from those in this VIP summary that are given on the minus strand as reported in the literature.
Several SNPs were identified in the SULT1A1 5'-flanking region including a G>C change at -624 which creates a putative Sp1 binding site [Article:15970794]. This variant is present at allele frequencies greater than 30% for Caucasian, African-American and Chinese individuals and shows high linkage disequilibrium with SULT1A1*2. Functional studies showed that promoter haplotypes including the -624G>C variant were predictors of SULT1A1 activity in the platelet, with the C allele being associated with increased SULT1A1 activity [Article:15970794].
| Key Publications: | |
|---|---|
| Drugs / Other Molecules | |
| Diseases | Breast Neoplasms 14 15 16 17 Colorectal Neoplasms 18 Esophageal Neoplasms 19 Prostatic Neoplasms 20 21 |
Appendix
3. SULT1A1: \-624G>C(rs3760091)
| Genomic Variant & GenBank ID: | 19,933,879 C>G on NT_010393.15 |
|---|---|
| mRNA Variant & GenBank ID: | none |
| Protein Variant & *GenBank ID:* | NA |
| DNA Source Containing Homozygous Reference *Allele(Coriell Lines):* | PA126721835(Coriell Cell Line GM17120; Coriell DNA: NA17120) |
| DNA Source Containing Heterozygous Reference * Allele(Coriell Lines):* | PA126721774(Coriell Cell Line GM17102; Coriell DNA: NA17102) |
| DNA Source Containing Homozygous Minor *Allele* (Coriell Lines): | PA126721804 (Coriell Cell Line GM17113; Coriell DNA: NA17113) |
| Key Haplotypes: | SULT1A1: (638G>A, \-624G>C and \-396A>G) |
| gp position | chr16:28528301(hg18) |
Connected Drugs
| Evidence | Drug |
|---|---|
| acetaminophen | |
| minoxidil |
Connected Drug Classes
| Evidence | Drug Class |
|---|---|
| VIP Annotation | estrogens |
Connected Diseases
| Evidence | Disease |
|---|---|
| Breast Neoplasms | |
| Colorectal Neoplasms | |
| Esophageal Neoplasms | |
| Prostatic Neoplasms |
Publications related to rs3760091 at chr16:28620800: 1
| Common genetic polymorphisms in the 5'-flanking region of the SULT1A1 gene: haplotypes and their association with platelet enzymatic activity. Pharmacogenetics and genomics. 2005. Ning Baitang, et al. [Article:15970794@PubMed] |