rs4769874
This is a regulatory region variant variant in the ALOX5AP gene.
▶Research that mentions this SNP (4)
▶Impact of inflammation, gene variants, and cigarette smoking on coronary artery disease riskAssociationN=1,959Mahmoud Merhi et al.(2015)· Inflammation Research
Case-control study of 1,959 Lebanese subjects investigating genetic variants in inflammatory pathway genes and coronary artery disease (CAD) risk. Four variants showed significant associations: rs4769874 (ALOX5AP, OR=1.54, p=0.011), rs9579646 (ALOX5AP, OR=0.76, p=0.001), rs4646903 (CYP1A1, OR=1.68, p=0.019), and rs854560 (PON1, OR=1.36, p=0.017). A significant smoking-gene interaction was found with rs4646903 in current smokers (OR=0.52, p=0.037).
▶Genetic contribution of the leukotriene pathway to coronary artery diseaseAssociationN=4,512Hartiala J. et al.(2011)· Human Genetics
This study evaluated the genetic contribution of 15 leukotriene pathway genes to coronary artery disease (CAD) risk in 4,512 subjects. Using a two-stage association analysis in Caucasians, LTA4H rs2540477 increased CAD risk (OR=1.2, 95% CI 1.1-1.5; p=0.003), while PLA2G4A rs12746200 decreased CAD risk (OR=0.7, 95% CI 0.6-0.9; p=0.0007) and reduced MACE over 3 years (HR=0.7, 95% CI 0.5-0.9; p=0.01). Functional studies showed monocytes from carriers of LTA4H variants HapK and rs2540477 produced 50% and 33% higher leukotriene B4 levels, respectively, consistent with atherogenic mechanisms.
▶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.
▶Association of ALOX5AP with ischemic stroke: a population-based case-control studyAssociationN=839Ritesh Kaushal et al.(2007)· Human Genetics
This population-based case-control study examined the association of ALOX5AP gene variants with ischemic stroke in 357 cases and 482 controls from the Greater Cincinnati/Northern Kentucky region. Among whites, rs4769874 showed significant association with ischemic stroke (P < 10^-4, OR = 4.95) and specific subtypes including cardioembolic (OR = 6.0) and large vessel stroke (OR = 3.9). Haplotype analysis identified the GTAAG haplotype significantly associated with stroke among whites (P < 10^-4), but no significant associations were found in the black population.
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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