rs3024718
This is a intron variant variant in the PROZ gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
coagulation factor X amount
▶Research that mentions this SNP (1)
▶Protein Z polymorphisms associated with vaso-occlusive crisis in young sickle cell disease patientsAssociationN=377Najat Mahdi et al.(2012)· Annals of Hematology
This case-control study examined the association of protein Z (PZ) gene polymorphisms with vaso-occlusive crisis (VOC) in 239 young sickle cell disease patients compared to 138 pain-free controls. Four promoter and intronic SNPs (rs3024718, rs3024719, rs3024731, rs3024735) were significantly associated with VOC risk, with rs3024731 and rs3024735 showing the strongest associations (P<0.001). Haplotype analysis identified GGTG and AGTG haplotypes as protective against VOC following Bonferroni correction.
About PROZ
This gene encodes a liver vitamin K-dependent glycoprotein that is synthesized in the liver and secreted into the plasma. The encoded protein plays a role in regulating blood coagulation by complexing with protein Z-dependent protease inhibitor to directly inhibit activated factor X at the phospholipid surface. Deficiencies in this protein are associated with an increased risk of ischemic arterial diseases and fetal loss. Mutations in this gene are the cause of protein Z deficiency. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
View all PROZ variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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