rs2066865

This is a downstream gene variant variant in the FGG gene.

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GWAS Catalog Trait Associations (7)

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

venous thromboembolism

Klarin D et al. “Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease.” Nature Genetics 51(11):1574-1579 (2019)
Allele A
OR 1.22
p 2.0e-88
N 650,119
Large GWAS
multi-ancestry
Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele A
OR 0.20
p 1.0e-87
N 1,063,277
Meta-analysisLarge GWAS
multi-ancestry
Klarin D et al. “Genetic Analysis of Venous Thromboembolism in UK Biobank Identifies the ZFPM2 Locus and Implicates Obesity as a Causal Risk Factor.” Circulation. Cardiovascular Genetics 10(2) (2017)
Allele A
OR 1.21
p 3.0e-11
N 120,158
Major Consortium StudyLarge GWAS
European
Germain M et al. “Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism.” American Journal of Human Genetics 96(4):532-42 (2015)
Allele A
OR 1.24
p 1.0e-16
N 60,139
Meta-analysisLarge 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 G
OR 0.19
p 4.0e-80
N 438,632
Major Consortium StudyLarge GWAS
European

encounter with health service

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 G
OR 0.09
p 5.0e-29
N 620,623
Major Consortium StudyLarge GWAS
multi-ancestry

heart disease

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 G
OR 0.14
p 3.0e-41
N 437,454
Major Consortium StudyLarge GWAS
European

Phlebitis, Thrombophlebitis

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 G
OR 0.23
p 3.0e-12
N 568,636
Major Consortium StudyLarge GWAS
multi-ancestry

pulmonary embolism, Pulmonary Infarction

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 G
OR 0.21
p 1.0e-15
N 120,880
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
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ClinVar annotation

Benign★★★☆
3 submitters2 publications

Congenital afibrinogenemia

View on ClinVar →
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Research that mentions this SNP (3)

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Myocardial infarction, prothrombotic genotypes, and venous thrombosis risk: The Tromsø Study
AssociationN=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.

Traits studied:Deep vein thrombosisPulmonary embolismVenous thromboembolism
PubMedDOIMetascience Observatory
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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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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 FGG

The protein encoded by this gene is the gamma component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

View all FGG variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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