rs773857

This is a downstream gene variant variant in the CPAMD8 gene.

Research that mentions this SNP (1)

Polymorphism in the protease‐activated receptor‐4 gene region associates with platelet activation and perioperative myocardial injury
AssociationN=934Jochen D. Muehlschlegel et al.(2012)· American Journal of Hematology

A genetic association study identified SNP rs773857 in the F2RL3 gene region as associated with perioperative myocardial injury (PMI) in 934 CABG surgery patients (OR 2.4, p=0.004). Risk allele homozygotes showed increased platelet counts and enhanced P-selectin release upon PAR4 activation, indicating increased platelet reactivity and α-granule degranulation.

Traits studied:Perioperative myocardial injuryPlatelet activationPlatelet count

About CPAMD8

This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. [provided by RefSeq, May 2017]

View all CPAMD8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…