RGD Reference Report - PROS1 genotype phenotype relationships in a large cohort of adults with suspicion of inherited quantitative protein S deficiency. - Rat Genome Database

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PROS1 genotype phenotype relationships in a large cohort of adults with suspicion of inherited quantitative protein S deficiency.

Authors: Alhenc-Gelas, M  Plu-Bureau, G  Horellou, MH  Rauch, A  Suchon, P   
Citation: Alhenc-Gelas M, etal., Thromb Haemost. 2016 Feb 29;115(3):570-9. doi: 10.1160/TH15-05-0391. Epub 2015 Oct 15.
RGD ID: 11251678
Pubmed: PMID:26466767   (View Abstract at PubMed)
DOI: DOI:10.1160/TH15-05-0391   (Journal Full-text)

Inherited protein S deficiency (PSD) is an established risk factor for venous thromboembolism (VTE). However, data are conflicting concerning risk of VTE associated with decreased free PS level (FPS) and information on PROS1 genotype-phenotype relationship is sparse. In a retrospective cohort of 579 patients with inherited type I/III deficiency suspicion, PROS1 genotyping was performed and the effect of genotype on FPS and on VTE risk was investigated. We found 116 (including 65 novel) detrimental mutations (DM) in 222 (type I/III in 194, type II in 28), PS Heerlen in 74, possibly non DM 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 DM 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 thrombosis. Only type I/IIIDM carriers presented with an increased risk of VTE [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 VTE 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 VTE risk far below the lower limit of the normal range and suggest a place for PROS1 genotyping in PSD diagnosis strategy.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PROS1HumanVenous Thromboembolism  IAGP  RGD 
Pros1RatVenous Thromboembolism  ISOPROS1 (Homo sapiens) RGD 
Pros1MouseVenous Thromboembolism  ISOPROS1 (Homo sapiens) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Pros1  (protein S)

Genes (Mus musculus)
Pros1  (protein S (alpha))

Genes (Homo sapiens)
PROS1  (protein S)


Additional Information