Important Variant Information for P2RY12
Submitted by: Katrin Sangkuhl (PharmGKB)
Reviewed by: under review
Submitted date: Feb 28, 2008
There is One Important Variant for P2RY12.
| Gene HGNC Name: | P2RY12 |
|---|---|
| Variant Summary: | The antithrombotic effect of clopidogrel and the ADP-induced platelet response are considerably variable. Therefore the P2RY12 gene was screened for possible variants. Two functional haplotypes were identified. These haplotypes can be differentiated by any of four tagging SNPs in absolute linkage disequilibrium. One of these markers is i-T744C, which is used in several studies for genotyping the participants. This variant is located 744 nt after the 5' intron start site and consists of a T-to-C transition [12912815]. The T744C polymorphism showed no influence on clopidogrel response in patients with non ST elevation acute coronary syndrome [17337040]. This SNP was used to tag the H2 haplotype to show association with peripherial arterial disease [14662702] and coronary artery disease [17803810]. |
| Key PubMed IDs: | 12912815, 14662702, 17803810 |
| Genomic Variant & GenBank ID: | 57553587 C>T on NT_005612 |
| mRNA Variant & GenBank ID: | N/A |
| Protein Variant & GenBank ID: | N/A |
| dbSNP rs#: | rs2046934 |
| GoldenPath Position: | chr3:152540332 (hg18) |
| Key Drugs/Substrates: | clopidogrel |
| Key Phenotypes/Diseases: | Cardiovascular Diseases |
| Phenotype Data Sets: | N/A |
| Key Haplotypes: | P2RY12:H2 haplotype |