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- W1913779422 abstract "Summary The Genetic Markers for Thrombosis (GMT) study compared the relative influence of ethnicity and thrombotic phenotype regarding the distribution of SNPs implicated in haemostasis pathophysiology (“haemostaseome”). We assessed 384 SNPs in three groups, each of 480 subjects: 1) general population of Aquitaine region (Southwestern France) used as control; 2) patients with venous thromboembolism from the same area; and 3) autochthonous Basques, a genetic isolate, who demonstrate unusual characteristics regarding the coagulation system. This study sought to evaluate i) the value of looking for a large number of genes in order to identify new genetic markers of thrombosis, ii) the value of investigating low risk factors and potential preferential associations, iii) the impact of ethnicity on the characterisation of markers for thrombosis. We did not detect any previously unrecognised SNP significantly associated with thrombosis risk or any preferential associations of low-risk factors in patients with thrombosis. The sum of ϰ2 values for our 110 significant SNPs demonstrated a smaller genetic distance between patients and controls (321 cumulated ϰ2 value) than between Basques and controls (1,570 cumulated ϰ2 value). Hence, our study confirms the genetic particularity of Basques especially regarding a significantly lower expression of the non-O blood group (p< 0.0004). This is mitigated by a higher prevalence of factor II Leiden (p< 0.02) while factor V Leiden prevalence does not differ. Numerous other differences covering a wide range of proteins of the haemostaseome may result in an overall different genetic risk for venous thromboembolism." @default.
- W1913779422 created "2016-06-24" @default.
- W1913779422 creator A5024030529 @default.
- W1913779422 creator A5034210847 @default.
- W1913779422 creator A5036145715 @default.
- W1913779422 creator A5091218534 @default.
- W1913779422 date "2015-01-01" @default.
- W1913779422 modified "2023-10-17" @default.
- W1913779422 title "Haemostaseome-associated SNPs: has the thrombotic phenotype a greater influence than ethnicity?" @default.
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