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ALOX5AP

From SNPedia

is agene
is mentioned by
Full namearachidonate 5-lipoxygenase-activating protein
EntrezGene241
PheGenI241
VariationViewer241
ClinVarALOX5AP
GeneCardsALOX5AP
dbSNP241
SADR241
HugeNav241
wikipediaALOX5AP
googleALOX5AP
gopubmedALOX5AP
EVSALOX5AP
HEFalMpALOX5AP
MyGene2ALOX5AP
23andMeALOX5AP
UniProtP20292
EnsemblENSG00000132965
OMIM603700
# SNPs19
 Max MagnitudeChromosome positionSummary
rs1050739130,737,959
rs1242969230,738,041
rs1721647330,729,828
rs17222814030,725,416
rs17222842030,765,980
rs17222919030,734,192
rs1723902530,765,768
rs388590730,740,318
rs392243530,740,543
rs407612830,731,006
rs414706430,745,981
rs429322230,737,636
rs436079130,743,883
rs476906030,763,740
rs476987330,738,552
rs4769874030,752,304
rs931505030,761,908
rs955196330,758,410
rs957964630,736,442

The ALOX5AP gene has been associated with inflammatory processes and also aspects of heart disease such as atherosclerosis.

A 2004 study linked haplotypes of ALOX5AP to myocardial infarction and stroke.[PMID 14770184] The main haplotypes defined are now called HapA and HapB; while the SNPs defining them are intermeshed, they appear to be exclusive (i.e. no single chromosome carries more than one of these haplotypes). The haplotypes are defined as follows:

HapA: G-T-G-A, respectively, for SNPs

HapB: A-A-A-G, respectively, for SNPs


In the original (2004) article, HapA was associated with ~2x increased risk for myocardial infarction (MI) as well as ischemic stroke in Icelandic populations (713 patients), whereas in a UK population HapB was associated with greater MI risk. Subsequent studies have presented both confirmatory and conflicting results, as follows:

  • HapA shows a 1.36x higher MI risk for 450 Scottish patients [PMID 15640973]
  • rs10507391 showed a 1.24x risk for stroke among males (but not females) in 639 German patients [PMID 15731479]
  • Neither HapA, HapB, or any of their SNPs showed MI risk in 700 US Caucasian male patients [PMID 16778124]
  • Neither HapA or HapB showed any MI risk in 3,657 German patients [PMID 17304054]
  • ALOX5AP SNPs rs9579646 and rs4769874 were found to be significantly associated at both allelic (p=0.019 and p<10-4, respectively) and genotypic levels with ischemic stroke among Caucasians but not African-Americans.[PMID 17387518]
  • HapB showed a 1.67x higher MI risk in 1431 Italian patients [PMID 17505527]
  • Neither HapA or HapB showed any MI risk in 685 Swedish patients [PMID 17655870]
  • HapB showed a higher MI risk among 1,211 German patients [PMID 18318662]
  • No ALOX5AP SNPs were found to be linked to coronary artery disease in a study of 1500 patients [PMID 18369664]


Additionally, while some studies have shown that treatment with a leukotriene inhibitor reduces biomarkers of coronary risk in patients carrying HapA, others have concluded that knowledge of a patient's ALOX5AP haplotype may not provide useful information on the probable clinical response to ALOX5AP inhibitors.[PMID 17176247]