Summary of the outcome of investigations of hemostatic polymorphisms
| Polymorphism . | Phenotype . | Relationship of Phenotype to Disease . | Association of Genotype With Disease . |
|---|---|---|---|
| Venous thromboembolic disease | |||
| Factor V G1691A, Arg506Gln | APCR | Clearly established | Clear risk factor alone or in combination with other risk factors, genetic or acquired |
| Prothrombin G20210A | Altered levels, mechanism uncertain | Most likely | Moderate risk factor alone or in combination with other risk factors |
| Factor V HR2 haplotype | Slight APCR; glycosylation isoforms altered? | Suggestive | Weak risk factor alone or in combination with factor V G1691A? |
| Factor XIII Val34Leu | Increased activation rate | Suggestive | Preliminary results suggest 34Leu is protective against thrombosis |
| EPCR 23-bp repeat | Predicted altered expression on cell surface | Unknown | Preliminary results suggest it a weak/moderate risk factor |
| Arterial occlusive disease | |||
| Fibrinogen β chain −455G/A | Associated with altered level | Established, but causal? | Inconsistent |
| Fibrinogen β chainBcl I | Associated with altered level | Established, but causal? | Inconsistent |
| Fibrinogen α Thr313Ala | Altered clot structure? | Unknown | Inconsistent |
| Factor VII Arg353Gln | Altered level | Inconsistent | Inconsistent |
| Factor VII HVR4 | Probably altered level | Inconsistent | Unknown |
| Factor VII −402G/A | Altered level | Inconsistent | Unknown |
| Factor VII −401G/T | Altered level | Inconsistent | Unknown |
| Factor VII −323 0/10 | Altered level | Inconsistent | Unknown |
| Factor XIII Val34Leu | Increased activation rate | Unknown | Preliminary results suggest 34Leu is protective against MI |
| Factor V G1691A, Arg506Gln | APCR | Inconsistent | Possibly in selected patients and in combination with acquired risk factors |
| Prothrombin G20210A | Altered level | Unknown | Possibly in selected patients, and in combination with acquired risk factors |
| EPCR 23-bp repeat | Predicted altered expression on cell surface | Unknown | Preliminary results suggest it may be a weak risk factor |
| Thrombomodulin Ala455Thr | Unknown | Suggestive | Inconsistent |
| Thrombomodulin Ala25Thr | Unknown | Suggestive | Preliminary results suggest 25Thr associated with MI |
| tPA Alu insertion/deletion | Unlikely | Paradoxical | Inconsistent |
| PAI-1 −675 4G/5G | Inconsistent | Suggestive | Inconsistent |
| PAI-1 (CA)n | Suggestive of altered level | Suggestive | Unknown |
| PAI-1 Hind III | Suggestive of altered level | Suggestive | Unknown |
| Gp IIIa Pro33Leu | No effect on fibrinogen binding, but increased sensitivity to activation? | Unknown | Inconsistent |
| Gp IαVNTR | Unknown | Unknown | Preliminary results show association |
| Gp Ib; Iα C3550T, Thr145Met | Unknown | Unknown | Inconsistent |
| Gp Ia/IIa, α2 C807T | Associated with altered surface expression of receptor, altered collagen binding | Unknown | Inconsistent |
| Polymorphism . | Phenotype . | Relationship of Phenotype to Disease . | Association of Genotype With Disease . |
|---|---|---|---|
| Venous thromboembolic disease | |||
| Factor V G1691A, Arg506Gln | APCR | Clearly established | Clear risk factor alone or in combination with other risk factors, genetic or acquired |
| Prothrombin G20210A | Altered levels, mechanism uncertain | Most likely | Moderate risk factor alone or in combination with other risk factors |
| Factor V HR2 haplotype | Slight APCR; glycosylation isoforms altered? | Suggestive | Weak risk factor alone or in combination with factor V G1691A? |
| Factor XIII Val34Leu | Increased activation rate | Suggestive | Preliminary results suggest 34Leu is protective against thrombosis |
| EPCR 23-bp repeat | Predicted altered expression on cell surface | Unknown | Preliminary results suggest it a weak/moderate risk factor |
| Arterial occlusive disease | |||
| Fibrinogen β chain −455G/A | Associated with altered level | Established, but causal? | Inconsistent |
| Fibrinogen β chainBcl I | Associated with altered level | Established, but causal? | Inconsistent |
| Fibrinogen α Thr313Ala | Altered clot structure? | Unknown | Inconsistent |
| Factor VII Arg353Gln | Altered level | Inconsistent | Inconsistent |
| Factor VII HVR4 | Probably altered level | Inconsistent | Unknown |
| Factor VII −402G/A | Altered level | Inconsistent | Unknown |
| Factor VII −401G/T | Altered level | Inconsistent | Unknown |
| Factor VII −323 0/10 | Altered level | Inconsistent | Unknown |
| Factor XIII Val34Leu | Increased activation rate | Unknown | Preliminary results suggest 34Leu is protective against MI |
| Factor V G1691A, Arg506Gln | APCR | Inconsistent | Possibly in selected patients and in combination with acquired risk factors |
| Prothrombin G20210A | Altered level | Unknown | Possibly in selected patients, and in combination with acquired risk factors |
| EPCR 23-bp repeat | Predicted altered expression on cell surface | Unknown | Preliminary results suggest it may be a weak risk factor |
| Thrombomodulin Ala455Thr | Unknown | Suggestive | Inconsistent |
| Thrombomodulin Ala25Thr | Unknown | Suggestive | Preliminary results suggest 25Thr associated with MI |
| tPA Alu insertion/deletion | Unlikely | Paradoxical | Inconsistent |
| PAI-1 −675 4G/5G | Inconsistent | Suggestive | Inconsistent |
| PAI-1 (CA)n | Suggestive of altered level | Suggestive | Unknown |
| PAI-1 Hind III | Suggestive of altered level | Suggestive | Unknown |
| Gp IIIa Pro33Leu | No effect on fibrinogen binding, but increased sensitivity to activation? | Unknown | Inconsistent |
| Gp IαVNTR | Unknown | Unknown | Preliminary results show association |
| Gp Ib; Iα C3550T, Thr145Met | Unknown | Unknown | Inconsistent |
| Gp Ia/IIa, α2 C807T | Associated with altered surface expression of receptor, altered collagen binding | Unknown | Inconsistent |
Data on each polymorphism are summarized in terms of the nature of its phenotype, what is known of the relationship between the phenotypic change (not necessarily genetically determined) and the disease, and the direct association of the genotype to the disease.