Exome Genotyping Study of Scripps Venous Thrombosis Registry using Axiom® Exome Genotyping Array

Younger age and VTE recurrence are more likely to be caused by genetic risk factors than secondary VTE in older patients who more likely have comorbidities. When the exome rare variant genotyping database of the Scripps VTE Registry for adults < 55 yrs old was generated and analyzed for single nucleotide polymorphisms (SNPs). Two F5 related SNPs (rs6025, factor V Leiden and rs6687813) exceeded significance (FDR (false discovery rate) p < 0.05). No other variants met genome-wide significance. When the data for the subgroup of cases with recurrent VTE that are more likely to have genetic risk factors than cases with a single VTE episode were compared to controls (N=211 controls and N=32 recurrent VTE cases), 28 SNPs, including the F5 rs6025 SNP, achieved significance (FDR p < 0.05). The study population consisted of 104 VTE cases and 211 controls from the Scripps Venous Thrombosis Registry. The quality of each DNA stored in the freezer was re-evaluated according to the manufacture’s protocol for performing Axiom® Exome Genotyping Array analysis. Subjects were genotyped using the Axiom® Exome Genotyping Array” (Affymetrix)