| Autor: |
Pintao MC; Einthoven Laboratory for Experimental Vascular Medicine., Ribeiro DD, Bezemer ID, Garcia AA, de Visser MC, Doggen CJ, Lijfering WM, Reitsma PH, Rosendaal FR |
| Jazyk: |
angličtina |
| Zdroj: |
Blood [Blood] 2013 Oct 31; Vol. 122 (18), pp. 3210-9. Date of Electronic Publication: 2013 Sep 06. |
| DOI: |
10.1182/blood-2013-04-499335 |
| Abstrakt: |
In thrombophilic families, protein S deficiency is clearly associated with venous thrombosis. We aimed to determine whether the same holds true in a population-based case-control study (n = 5317). Subjects were regarded protein S deficient when protein S levels were < 2.5th percentile of the controls. Free and total protein S deficiency was not associated with venous thrombosis: free protein S < 53 U/dL, odds ratio [OR] 0.82 (95% confidence interval [CI], 0.56-1.21) and total protein S < 68 U/dL, OR 0.90 (95% CI, 0.62-1.31). When lower cutoff values were applied, it appeared that subjects at risk of venous thrombosis could be identified at levels < 0.10th percentile of free protein S (< 33 U/dL, OR 5.4; 95% CI, 0.61-48.8). In contrast, even extremely low total protein S levels were not associated with venous thrombosis. PROS1 was sequenced in 48 subjects with free protein S level < 1st percentile (< 4 6 U/dL), and copy number variations were investigated in 2718 subjects, including all subjects with protein S (free or total) < 2.5th percentile. Mutations in PROS1 were detected in 5 patients and 5 controls reinforcing the observation that inherited protein S deficiency is rare in the general population. Protein S testing and PROS1 testing should not be considered in unselected patients with venous thrombosis. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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