rs4364254
This is a intron variant variant in the HPSE gene.
▶Research that mentions this SNP (1)
▶Correlation between heparanase gene polymorphism and susceptibility to endometrial cancerAssociationN=590Hanyu Cao et al.(2020)· Molecular Genetics & Genomic Medicine
A case-control study investigating the association between heparanase gene (HPSE) polymorphisms and endometrial cancer susceptibility in 270 patients and 320 controls. The rs4693608 G/G genotype showed a protective effect against endometrial cancer (adjusted OR = 0.41, 95% CI = 0.21-0.81, p = 0.026 in codominant model; OR = 0.43, 95% CI = 0.22-0.82, p = 0.0076 in recessive model). rs4693608 was also associated with tumor grade and cervical invasion, while rs4364254 was associated with tumor grade only.
About HPSE
Heparan sulfate proteoglycans are major components of the basement membrane and extracellular matrix. The protein encoded by this gene is an enzyme that cleaves heparan sulfate proteoglycans to permit cell movement through remodeling of the extracellular matrix. In addition, this cleavage can release bioactive molecules from the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
View all HPSE variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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