Talks
Presentation Type
Oral Presentation
Discipline Track
Translational Science
Abstract Type
Research/Clinical
Abstract
Background: Disruption in the balance between coagulation and bleeding can result in varying phenotypes such as hypercoagulability and can lead to the development of cardiovascular disease. In our study utilizing extended families of Mexican-Americans from South Texas, we performed a search for protein-altering variants influencing coagulation potential.
Methods: Mexican-Americans in the study were genotyped using Illumina-(human)-exome-24 chip to screen for protein-altering variants. Variants were analyzed for their association with FII activity, aPTT, and PT. Linear-mixed-model analysis was performed to estimate trait heritabilities and to interrogate single nucleotide variations (SNV) for evidence of genetic association. To control for multiple testing, associations are considered significant if their p-value falls below the Bonferroni-adjusted significance level.
Results: Heritability-estimates for FII, aPTT, and PT were found highly significant with estimates of 0.49, 0.49, and 0.54 (for all, pTable). All three traits were significantly associated with the same SNV (rs143064939) located on Chromosome 11 leading to a 1628G>T in the FII-gene, F2(for all, p
Conclusion: Individuals with this SNV, Prothrombin-RGV, consistently present with lower levels of FII activity and correspondingly prolonged aPTT and PT. Carriers require increased coagulation time, suggesting a potential protective role of this inherited variant in the development of venous thromboembolism (VTE) and possibly arterial thromboembolism (ATE). This variant is most frequently found in populations of Mexican origin and may be a genetic determinant in individual variability concerning coagulation potential.
Academic/Professional Position
Medical Student
Mentor/PI Department
Office of Human Genetics
Recommended Citation
Nguyen, Hoang Anh T.; Jhaveri, Shuchita Vijay; Almeida, Marcio A.; Diego, Vincent P.; Kumar, Satish; Peralta, Juan M.; Curran, Joanne E.; Luu, Bernadette W.; Lehman, Donna M.; DeFronzo, Ralph A.; Almasy, Laura; Williams-Blangero, Sarah; Duggirala, Ravi; Blangero, John; and Howard, Tom, "Variant of FII Gene Plays a Critical Role in Coagulation Potential in Mexican-Americans" (2023). Research Symposium. 10.
https://scholarworks.utrgv.edu/somrs/theme1/track1/10
Variant of FII Gene Plays a Critical Role in Coagulation Potential in Mexican-Americans
Background: Disruption in the balance between coagulation and bleeding can result in varying phenotypes such as hypercoagulability and can lead to the development of cardiovascular disease. In our study utilizing extended families of Mexican-Americans from South Texas, we performed a search for protein-altering variants influencing coagulation potential.
Methods: Mexican-Americans in the study were genotyped using Illumina-(human)-exome-24 chip to screen for protein-altering variants. Variants were analyzed for their association with FII activity, aPTT, and PT. Linear-mixed-model analysis was performed to estimate trait heritabilities and to interrogate single nucleotide variations (SNV) for evidence of genetic association. To control for multiple testing, associations are considered significant if their p-value falls below the Bonferroni-adjusted significance level.
Results: Heritability-estimates for FII, aPTT, and PT were found highly significant with estimates of 0.49, 0.49, and 0.54 (for all, pTable). All three traits were significantly associated with the same SNV (rs143064939) located on Chromosome 11 leading to a 1628G>T in the FII-gene, F2(for all, p
Conclusion: Individuals with this SNV, Prothrombin-RGV, consistently present with lower levels of FII activity and correspondingly prolonged aPTT and PT. Carriers require increased coagulation time, suggesting a potential protective role of this inherited variant in the development of venous thromboembolism (VTE) and possibly arterial thromboembolism (ATE). This variant is most frequently found in populations of Mexican origin and may be a genetic determinant in individual variability concerning coagulation potential.