rs1800788

This is a upstream gene variant variant in the FGB gene.

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GWAS Catalog Trait Associations (1)

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

circulating fibrinogen levels

Lovely RS et al. “Assessment of genetic determinants of the association of γ' fibrinogen in relation to cardiovascular disease.” Arteriosclerosis, Thrombosis, and Vascular Biology 31(10):2345-52 (2011)

Allele T

OR 0.19

p 1.0e-39

N 3,042

Large GWAS

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ClinVar annotation

Benign★☆☆☆

1 submitter

View on ClinVar →

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Research that mentions this SNP (1)

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Exploring new genetic variants within COL5A1 intron 4‐exon 5 region and TGF‐β family with risk of anterior cruciate ligament ruptures

ReviewN=9,720Mary‐Jessica N. Laguette et al.(2020)· Journal of Orthopaedic Research

This systematic review analyzed 24 studies examining 31 genes and 62 genetic variants associated with anterior cruciate ligament rupture (ACLR). Key findings show mixed evidence for collagen variants: COL1A1 rs1800012 showed protective association in European ancestry populations (OR=2.8, p=0.040), while COL1A2 rs42524 and rs2621215 conferred increased risk (OR=5.73 and 4.29 respectively). VEGFA polymorphisms rs2010963 and rs699947 showed conflicting associations across studies, and most major variants in IL6, IL1B, MMP genes, and inflammatory markers showed no consistent associations with ACLR across populations, highlighting the need for gender and ancestry-stratified analyses.

Traits studied:Anterior cruciate ligament injury (ACLI)Anterior cruciate ligament rupture (ACLR)

PubMed DOI Metascience Observatory

About FGB

The protein encoded by this gene is the beta 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. Fibrinogen serves key roles in hemostasis and antimicrobial host defense. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. [provided by RefSeq, Aug 2020]