Variant:

rs701265 at chr3:152554357 in P2RY1 (VIP)

VIP Variant in P2RY1

An interindividual variation in platelet response to ADP is widely observed, but the reason for this variaion in response is not well understood. Common variants in P2RY1 and P2RY12 genes were identified and the functional influence on platelet reactivity variation was investigated in 200 white participants with northern European background. The study identified five polymorphisms in the P2RY1 gene and 11 in the P2RY12 gene [Article:15514209]. The 1622A>G SNP (rs701265) in the P2RY1 gene was found to have a significant association with platelet response to ADP. Although the polymorphism is synonymous, the effect, defined by binding of fibrinogen to activated GPIIb-IIIa, was present at all doses of ADP. According to the paper, this association might indicate a phenotypic effect. However, the translation of the elevated fibrinogen binding into increased platelet aggregation was not explained by this study. Since the 1622A>G SNP is silent, and therefore has no influence at the primary structure, the actual mechanism remains to be elucidated. One possible explanation is that the effect of the polymorphism is at the P2RY1 receptor expression level [Article:15514209]. To investigate this further, 1000bp upstream of the P2RY1 gene has been sequenced in 13 subjects and ten additional SNP were identified. The C>T substitution at position -545 is in complete linkage disequilibrium with 1622A>G, which suggests a potential link to regulation of expression in the promoter region [Article:15514209].
Another study investigated the 1622A>G variant with regard to a possible association with altered response to aspirin and clopidogrel [Article:16581111]. A group of 120 patients undergoing percutaneous coronary intervention were enrolled and genotyped for polymorphisms in the P2RY1 (1622A>G variant), P2RY12 and ITGB3 gene after treatment with aspirin and clopidogrel. The responses were assessed by platelet aggregation and platelet surface expression of activation markers. No evidence was found for a significant association between these polymorphisms and the response to aspirin or clopidogrel [Article:16581111].

Publications related to rs701265 at chr3:152554357: 2

VIP	Genetic polymorphisms of the platelet receptors P2Y(12), P2Y(1) and GP IIIa and response to aspirin and clopidogrel. Thrombosis research. 2007. Lev Eli I, et al. [Article:16581111@PubMed]
VIP	Dimorphism in the P2Y1 ADP receptor gene is associated with increased platelet activation response to ADP. Arteriosclerosis, thrombosis, and vascular biology. 2005. Hetherington Simon L, et al. [Article:15514209@PubMed]

Cross-References

Platform Availability

• Affymetrix
• Illumina

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