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P2Y12 H2 haplotype is associated with peripheral arterial disease: a case-control study
Pierre Fontana1, Pascale Gaussem, Martine Aiach
1INSERM U.428, Hôpital Européen Georges Pompidou et Université Paris V, Paris, France.
Circulation
|December 10, 2003
Summary
The P2Y12 H2 haplotype, linked to increased platelet aggregation, is more common in peripheral arterial disease (PAD) patients. This finding suggests a potential role for this genetic variation in atherosclerosis development.
Area of Science:
- Cardiovascular Genetics
- Platelet Biology
- Atherosclerosis Research
Background:
- A gain-of-function P2Y12 gene haplotype (H2) increases adenosine diphosphate (ADP)-induced platelet aggregation.
- Platelets are crucial in atherosclerosis and arterial thrombosis.
Purpose of the Study:
- To investigate the association between the P2Y12 H2 haplotype and the risk of peripheral arterial disease (PAD).
Main Methods:
- A case-control study involving 184 male PAD patients and 330 age-matched controls.
- Genotyping for the P2Y12 H2 haplotype and analysis of its frequency in cases versus controls.
- Multivariate regression analysis adjusted for cardiovascular risk factors.
Main Results:
- The H2 haplotype was significantly more frequent in PAD patients (30%) compared to controls (21%).
- Univariate analysis showed an odds ratio (OR) of 1.6 (95% CI, 1.1-2.5; P=0.02).
- Multivariate analysis confirmed the association, with an OR of 2.3 (95% CI, 1.4-3.9; P=0.002) after adjustments.
Conclusions:
- The P2Y12 H2 haplotype is associated with an increased risk of peripheral arterial disease.
- These findings suggest a role for the H2 haplotype in atherosclerosis.
- Carriers of the P2Y12 H2 haplotype may exhibit relative thienopyridine resistance.
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