rs2289252

This is a coding sequence variant variant in the F11 gene.

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GWAS Catalog Trait Associations (6)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.46
p 2.0e-272
N 10,708
Large GWAS
European

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele T
OR 0.36
p 7.0e-125
N 5,337
Large GWAS
European

Thromboembolism

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.20
p 2.0e-111
N 615,607
Major Consortium StudyLarge GWAS
multi-ancestry

venous thromboembolism

Lindström S et al. “Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.” Blood 134(19):1645-1657 (2019)
Allele T
OR 1.19
p 3.0e-65
N 202,356
Large GWAS
multi-ancestry

factor XI measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele T
OR 0.44
p 5.0e-25
N 997
Small GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
3 submitters2 publications
View on ClinVar →
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Research that mentions this SNP (3)

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Assessing the causal relationship between obesity and venous thromboembolism through a Mendelian Randomization study
Meta-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.

Traits studied:Body mass indexDeep vein thrombosisObesityPulmonary embolismVenous thromboembolism
PubMedDOIMetascience Observatory
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Brief Report: Single‐nucleotide polymorphisms in VKORC1 are risk factors for systemic lupus erythematosus in Asians
AssociationN=3,739Rachel Kaiser et al.(2013)· Arthritis &amp; Rheumatism

Two SNPs in VKORC1 (rs9934438 and rs9923231) were identified as genetic risk factors for systemic lupus erythematosus (SLE) in Asian populations. In discovery cohort (263 SLE cases, 357 controls), both SNPs showed strong associations (OR=2.40-2.45, p=6.1×10^-9 to 2.4×10^-9), which were confirmed in a larger replication cohort (1496 cases, 993 controls) with OR=1.53-1.54 (p=4.3-5.1×10^-6), and remained significant after ancestry adjustment (OR=1.34, p=0.0029-0.0032).

Traits studied:Deep venous thrombosisSystemic lupus erythematosusThrombosis
PubMedDOIMetascience Observatory
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A Genome‐Wide Association Study for Venous Thromboembolism: The Extended Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium
AssociationN=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.

Traits studied:Deep venous thrombosisPulmonary embolismVenous thromboembolism
PubMedDOIMetascience Observatory

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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