rs11099592

This is a variant in the HPSE gene that changes a lysine to an arginine.

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ClinVar annotation

Benign
1 submitter

HPSE-related disorder

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Research that mentions this SNP (1)

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Association of heparanase gene (HPSE‐1) single nucleotide polymorphisms with gastric cancer
AssociationN=359Zhenyu Yue et al.(2010)· Journal of Surgical Oncology

A case-control study of 155 gastric cancer patients and 204 healthy controls identified four SNPs in the HPSE-1 gene (heparanase). The AAG haplotype (intron3/exon8/exon13) was significantly associated with gastric cancer risk (OR=7.467, P<0.0001). SNP rs11099592 (Arg307Lys) variant genotypes were associated with Borrmann classification and tumor invasion depth (OR=0.182, P=0.015 and OR=0.341, P=0.020). SNP rs6856901 (exon13) GC/CC genotypes showed better tumor-related survival (OR=0.504, P=0.028).

Traits studied:Gastric cancer
PubMedDOIMetascience Observatory

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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