rs12762303

This is a regulatory region variant variant in the ALOX5 gene.

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Research that mentions this SNP (2)

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Associations between arachidonic acid metabolism gene polymorphisms and prostate cancer risk
AssociationN=1,170Amirian ES et al.(2011)· The Prostate

Case-control study of 585 prostate cancer cases and 585 controls examining 14 SNPs in arachidonic acid metabolism genes. LTA4H rs1978331 TC genotype was protective (OR=0.66, 95% CI: 0.50-0.86). PTGES2 rs10987883 GG genotype showed increased prostate cancer risk in non-obese individuals (OR=2.53, 95% CI: 0.99-6.55). Results suggest SNPs in AA pathway genes may influence prostate cancer susceptibility, with obesity potentially modifying these associations.

Traits studied:Prostate cancer
PubMedDOIMetascience Observatory
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Common polymorphisms of ALOX5 and ALOX5AP and risk of coronary artery disease
AssociationN=13,135Themistocles L. Assimes et al.(2008)· Human Genetics

Case-control and replication study examining ALOX5 and ALOX5AP polymorphisms and coronary artery disease (CAD) risk in 1,552 CAD cases and 1,583 controls from the ADVANCE study and ARIC cohort. A nominally significant association was detected between rs12762303 (ALOX5 promoter) and CAD in white/European subjects (OR=1.32 per minor allele; P=0.002), but this association could not be reproduced in the ARIC replication study (HR=1.08; P=0.2). No significant associations were observed for other SNPs tested in either gene, leading to the conclusion that common allelic variation in ALOX5 and ALOX5AP does not provide strong evidence for CAD susceptibility.

Traits studied:Carotid intima media thicknessCoronary artery diseaseMyocardial infarction
PubMedDOIMetascience Observatory

About ALOX5

This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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