rs9315050
This is a intron variant variant in the ALOX5AP gene.
▶Research that mentions this SNP (1)
▶Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosisAssociationN=2,122David R. Crosslin et al.(2009)· Human Genetics
Genetic association study of leukotriene biosynthesis pathway genes (ALOX5AP, LTA4H, ALOX5) with early-onset coronary artery disease in 1,061 CATHGEN case-control subjects and 1,101 GENECARD families. The four-SNP haplotype (HapA) in ALOX5AP was associated with EOCAD (P=0.02) and the ten-SNP haplotype (HapK) in LTA4H with EOCAD (P=0.04) in CATHGEN. SNPs in ALOX5 showed association with CVD (P<0.05), with specific variants including rs10900215 (P=0.05), rs3740107 (P=0.04), and rs1487562 (P=0.03) associated with EOCAD. Expression analysis revealed pathway interactions among ALOX5, ALOX5AP, and LTA4H in atherosclerotic aorta tissue.
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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