UNASSIGNED: Inherited @entity4889 ( @entity4889 ) is an established risk factor for @entity1211 ( @entity1211 ). However, data are conflicting concerning risk of @entity1211 associated with decreased free PS level (FPS) and information on @entity7989 genotype-phenotype relationship is sparse. In a retrospective cohort of 579 @entity1 with @entity74 suspicion, @entity7989 genotyping was performed and the effect of genotype on FPS and on @entity1211 risk was investigated. We found 116 (including 65 novel) @entity16622 ( @entity16622 ) in 222 (type I/III in 194, type II in 28), PS Heerlen in 74, possibly non @entity16622 in 38 and no mutation in 245 subjects. Among DMs, type I/IIIDMs only were found in subjects with FPS<   30   %. Prevalence of type I/III @entity16622 decreased with increasing FPS level. Risk of VT associated with FPS level and genotype was studied in the 467 subjects with personal or family history of @entity715 . Only type I/IIIDM carriers presented with an increased risk of @entity1211 [1.41 (95   %CI (1.05-1.89)] compared to subjects with no mutation. Among the group of type I/IIIDM heterozygotes and subjects with no mutation, the optimal FPS cut-off point for identifying subjects at increased @entity1211 risk was searched for. We found that only subjects with FPS<   30   % and type I/IIIDM presented with an increased risk [1.48 (95   %CI 1.08-2.04)]. Our findings confirm the value of a cut-off FPS level for identifying subjects at increased @entity1211 risk far below the lower limit of the normal range and suggest a place for @entity7989 genotyping in @entity4889 diagnosis strategy.

XXXX genotype phenotype relationships in a large cohort of adults with suspicion of @entity4889 .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity4889 :: ('MESH:D018455', 'Disease') :: ['protein S deficiency', 'PSD'] @entity16622 :: ('OMIM:613563', 'Disease') :: ['detrimental mutations', 'DM'] @entity74 :: ('MESH:D030342', 'Disease') :: ['inherited type I/III deficiency'] @entity715 :: ('MESH:D013927', 'Disease') :: ['thrombosis'] @entity1211 :: ('MESH:D054556', 'Disease') :: ['VTE', 'venous thromboembolism'] @entity7989 :: ('5627', 'Gene') :: ['PROS1']
@entity7989 :: (5627,Gene) :: ['PROS1']
