rs12429692

This is a intron variant variant in the ALOX5AP gene.

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GWAS Catalog Trait Associations (1)

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

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Research that mentions this SNP (1)

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Genetic variation in the lipoxygenase pathway and risk of colorectal neoplasia
AssociationN=5,618Sarah E. Kleinstein et al.(2013)· Genes, Chromosomes and Cancer

This case-control study investigated associations between genetic polymorphisms in lipoxygenase pathway genes (ALOX5, FLAP, ALOX12, ALOX15) and colorectal cancer risk across three US populations (colon cancer: 1424 cases/1780 controls; rectal cancer: 583 cases/775 controls; adenoma: 485 cases/578 controls). The ALOX5 VNTR variant was associated with significantly lower rectal cancer risk (OR>5/≥5 vs 5/5 = 0.42, p=0.01). Four SNPs (rs17239025, rs2073438, rs4796535, rs2619112) were associated with rectal cancer risk at p≤0.05. Genetic variability in FLAP and ALOX15 modified the protective effect of NSAID use against colorectal neoplasia, particularly for rectal cancer.

Traits studied:Colon cancerColorectal adenomaColorectal cancerColorectal neoplasiaRectal cancer
PubMedDOIMetascience Observatory

About ALOX5AP

This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit 5-lipoxygenase activation. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]

View all ALOX5AP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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