rs2036914
This is a intron variant variant in the F11 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
venous thromboembolism
deep vein thrombosis
▶ClinVar annotation
▶Research that mentions this SNP (3)
▶Myocardial infarction, prothrombotic genotypes, and venous thrombosis risk: The Tromsø StudyAssociationN=2,402Joakim K. Sejrup et al.(2020)· Research and Practice in Thrombosis and Haemostasis
Prospective case-cohort study examining whether 5 prothrombotic SNPs explain the increased venous thromboembolism (VTE) risk after myocardial infarction (MI). Patients with MI had a 1.4-fold increased VTE risk (HR 1.44, 95% CI 1.07-1.96), but adjustment for rs8176719 (ABO), rs6025 (F5), rs1799963 (F2), rs2066865 (FGG), and rs2036914 (F11) did not attenuate this relationship (adjusted HR 1.52). Individual SNPs associated with VTE in non-MI subjects (F5 HR 2.20, ABO HR 1.44), but their combination with MI did not yield excess VTE risk.
▶Assessing the causal relationship between obesity and venous thromboembolism through a Mendelian Randomization studyMeta-analysisN=60,139Sara Lindström et al.(2017)· Human Genetics
Mendelian Randomization study examining the causal relationship between obesity (BMI) and venous thromboembolism using 95 BMI-associated SNPs in 7,507 VTE cases and 52,632 European ancestry controls. FTO rs1558902 showed the strongest individual association with VTE (OR 1.07, P = 0.005), and genetically predicted high BMI was significantly associated with increased VTE risk (OR 1.59 per SD increase in BMI, P = 5.8 × 10^-6), providing evidence for a causal relationship between obesity and VTE.
▶A Genome‐Wide Association Study for Venous Thromboembolism: The Extended Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) ConsortiumAssociationN=11,615Weihong Tang et al.(2013)· Genetic Epidemiology
A large genome-wide association study of venous thromboembolism (VTE) in 9 European ancestry cohorts (4,849 cases total) identified genome-wide significant associations at F5, ABO, F11, and FGG loci. The FGG locus (rs6536024, RR=0.80, p<5.0×10⁻¹³) and F11 locus (rs4253399, RR=1.24, p<5.0×10⁻¹³) showed novel associations with reduced and increased VTE risk respectively. Additional borderline associations (p<5.0×10⁻⁶) were identified near SUSD1 and OTUD7A, representing new candidate genes for VTE.
About F11
This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by disulfide bonds. During activation of the plasma factor XI, an internal peptide bond is cleaved by factor XIIa (or XII) in each of the two chains, resulting in activated factor XIa, a serine protease composed of two heavy and two light chains held together by disulfide bonds. This activated plasma factor XI triggers the middle phase of the intrisic pathway of blood coagulation by activating factor IX. Defects in this factor lead to Rosenthal syndrome, a blood coagulation abnormality. [provided by RefSeq, Jul 2008]
View all F11 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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