ALOX5AP
| is a | gene |
| is | mentioned by |
| Full name | arachidonate 5-lipoxygenase-activating protein |
| EntrezGene | 241 |
| PheGenI | 241 |
| VariationViewer | 241 |
| ClinVar | ALOX5AP |
| GeneCards | ALOX5AP |
| dbSNP | 241 |
| Diseases | ALOX5AP |
| SADR | 241 |
| HugeNav | 241 |
| wikipedia | ALOX5AP |
| ALOX5AP | |
| gopubmed | ALOX5AP |
| EVS | ALOX5AP |
| HEFalMp | ALOX5AP |
| MyGene2 | ALOX5AP |
| 23andMe | ALOX5AP |
| UniProt | P20292 |
| Ensembl | ENSG00000132965 |
| OMIM | 603700 |
| # SNPs | 19 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs10507391 | 0 | 30,737,959 | |
| rs12429692 | 0 | 30,738,041 | |
| rs17216473 | 0 | 30,729,828 | |
| rs17222814 | 0 | 30,725,416 | |
| rs17222842 | 0 | 30,765,980 | |
| rs17222919 | 0 | 30,734,192 | |
| rs17239025 | 0 | 30,765,768 | |
| rs3885907 | 0 | 30,740,318 | |
| rs3922435 | 0 | 30,740,543 | |
| rs4076128 | 0 | 30,731,006 | |
| rs4147064 | 0 | 30,745,981 | |
| rs4293222 | 0 | 30,737,636 | |
| rs4360791 | 0 | 30,743,883 | |
| rs4769060 | 0 | 30,763,740 | |
| rs4769873 | 0 | 30,738,552 | |
| rs4769874 | 0 | 30,752,304 | |
| rs9315050 | 0 | 30,761,908 | |
| rs9551963 | 0 | 30,758,410 | |
| rs9579646 | 0 | 30,736,442 |
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
- rs17222814, aka SG13S25
- rs10507391, aka SG13S114
- rs4769874, aka SG13S89
- rs9551963, aka SG13S32
HapB: A-A-A-G, respectively, for SNPs
- rs17216473, aka SG13S377
- rs10507391, aka SG13S114
- rs9315050, aka SG13S41
- rs17222842, aka SG13S35
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]
