Vita Rovite1, Uidis Maurins2, Kaspars Megnis3, Iveta Vaivade4, Raitis Pečulis5, Juris Rits6, Sandra Prave6, Janis Klovins7. 1. Latvian Biomedical Research and Study Centre, Ratsupites str. 1, LV-1067, Riga, Latvia. Electronic address: vita.rovite@biomed.lu.lv. 2. Dr. Maurins Vein Clinic, Kokneses pr. 18a, LV- 1014, Riga, Latvia. Electronic address: uldis.maurins@flebomedika.lv. 3. Latvian Biomedical Research and Study Centre, Ratsupites str. 1, LV-1067, Riga, Latvia. Electronic address: kaspars.megnis@biomed.lu.lv. 4. Latvian Biomedical Research and Study Centre, Ratsupites str. 1, LV-1067, Riga, Latvia. Electronic address: iveta.vaivade@inbox.lv. 5. Latvian Biomedical Research and Study Centre, Ratsupites str. 1, LV-1067, Riga, Latvia. Electronic address: raitis.peculis@biomed.lu.lv. 6. Dr. Maurins Vein Clinic, Kokneses pr. 18a, LV- 1014, Riga, Latvia. 7. Latvian Biomedical Research and Study Centre, Ratsupites str. 1, LV-1067, Riga, Latvia. Electronic address: klovins@biomed.lu.lv.
Abstract
INTRODUCTION: Deep vein thrombosis (DVT) has a strong inherited predisposition that is partly explained by the strong genetic risk factors such as mutations in factor V, prothrombin, antithrombin III, protein C and S genes. Only recently the first GWAS have been performed on DVT resulting in discovery of novel genetic variants, however, the information on the common polymorphisms predisposing to the risk of DVT is still scarce. MATERIALS AND METHODS: Here we selected six SNPs (rs5361 in SELE, rs2066865 in FGG, rs2227589 in SERPINC1, rs1613662 in GP6, rs13146272 in CYP4V2, rs2289252 in F11) reported to be associated with venous thrombosis conditions and studied the association of these common variants in selected case (n=177) and control (n=235) groups from population of Latvia. Genotyping was performed using TaqMan hybridization probe SNP genotyping assay. RESULTS: Patients with DVT had a significantly higher frequency of F11 rs2289252 polymorphism (p=0.001; OR [95%CI]=1.61 [1.20-2.14]). When stratified by recurrence of DVT the tendency was observed that the same SNP had higher OR value in group of DVT patients with repeated episodes of DVT compared to patients with single DVT episode (p=0.009; OR [95%CI]=2.27[1.22-4.21] and p=0.009; OR [95%CI]=1.52[1.11-2.08] respectively), but due to limited group of cases this finding should be replicated. CONCLUSION: We conclude that F11 gene variant rs2289252 contribute to inherited forms of DVT incidence and correlation of other analysed SNPs should be explored in populations with greater sample size and associated with various thrombosis related traits.
INTRODUCTION:Deep vein thrombosis (DVT) has a strong inherited predisposition that is partly explained by the strong genetic risk factors such as mutations in factor V, prothrombin, antithrombin III, protein C and S genes. Only recently the first GWAS have been performed on DVT resulting in discovery of novel genetic variants, however, the information on the common polymorphisms predisposing to the risk of DVT is still scarce. MATERIALS AND METHODS: Here we selected six SNPs (rs5361 in SELE, rs2066865 in FGG, rs2227589 in SERPINC1, rs1613662 in GP6, rs13146272 in CYP4V2, rs2289252 in F11) reported to be associated with venous thrombosis conditions and studied the association of these common variants in selected case (n=177) and control (n=235) groups from population of Latvia. Genotyping was performed using TaqMan hybridization probe SNP genotyping assay. RESULTS:Patients with DVT had a significantly higher frequency of F11 rs2289252 polymorphism (p=0.001; OR [95%CI]=1.61 [1.20-2.14]). When stratified by recurrence of DVT the tendency was observed that the same SNP had higher OR value in group of DVT patients with repeated episodes of DVT compared to patients with single DVT episode (p=0.009; OR [95%CI]=2.27[1.22-4.21] and p=0.009; OR [95%CI]=1.52[1.11-2.08] respectively), but due to limited group of cases this finding should be replicated. CONCLUSION: We conclude that F11 gene variant rs2289252 contribute to inherited forms of DVT incidence and correlation of other analysed SNPs should be explored in populations with greater sample size and associated with various thrombosis related traits.
Authors: Bengt Sennblad; Saonli Basu; Johanna Mazur; Pierre Suchon; Angel Martinez-Perez; Astrid van Hylckama Vlieg; Vinh Truong; Yuhuang Li; Jesper R Gådin; Weihong Tang; Vera Grossman; Hugoline G de Haan; Niklas Handin; Angela Silveira; Juan Carlos Souto; Anders Franco-Cereceda; Pierre-Emmanuel Morange; France Gagnon; Jose Manuel Soria; Per Eriksson; Anders Hamsten; Lars Maegdefessel; Frits R Rosendaal; Philipp Wild; Aaron R Folsom; David-Alexandre Trégouët; Maria Sabater-Lleal Journal: Hum Mol Genet Date: 2017-02-01 Impact factor: 6.150
Authors: Maria Teresa Pagliari; Luca A Lotta; Hugoline G de Haan; Carla Valsecchi; Gloria Casoli; Silvia Pontiggia; Ida Martinelli; Serena M Passamonti; Frits R Rosendaal; Flora Peyvandi Journal: PLoS One Date: 2016-11-01 Impact factor: 3.240