Gene "ALOX5AP"
Found 6 records
Gene information
Gene symbol:
ALOX5AP
See related:
Ensembl: ENSG00000132965, Gene ID: 241
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
6 
Disorder:
2 
Vriant:
6 
Reference:
2 
Effect type:
Expressivity(6)  
Modifier effect:
Altered HbF levels(4) ,Risk factor(2)  
Details：
  • Variant 1:
    ALOX5AP:rs12019512
    Gene:
    ALOX5AP
    Genomic location:
    dbSNP ID:
    rs12019512
    Target disease:
    Sickle Cell Anemia(DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered HbF levels 
    Evidence:
    Bayesian approach 
    Effect:
    Different genes might modulate the rate of decline of HbF and the final level of HbF levels in sickle cell anemia.
    Reference:
    PMID17918249
    Title:
    Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations.
    Species studied:
    Human
    Abstract:
    We genotyped single nucleotide polymorphisms (SNPs) in: (1) the beta-globin gene-like cluster, (2) quantitative trait loci (QTL) previously associated with fetal hemoglobin (HbF) concentration on chromosomes 6q, 8q, and Xp, and (3) candidate genes that could effect HbF levels, in sickle cell anemia subjects. HbF concentration was modeled as a continuous variable with values in a finite interval using a novel Bayesian approach. We first tested the associations of SNPs with HbF in a group of 1,518 adults and children (CSSCD study), and validated the results in a second independent group of 211 adults (MSH study). In subjects aged >or=24 years, 5 SNPs in TOX (8q12.1), 2 SNPs in the beta-globin gene-like cluster, 2 SNPs in the Xp QTL, and 1 SNP in chromosome 15q22 were associated with HbF in the CSSCD and also validated in the MSH. Four other SNPs in 15q22 were associated with HbF only in the larger CSSCD data. When patients aged <24 years in the CSSCD were examined, additional genes, including 4 with roles in nitric oxide metabolism, were associated with HbF level. These studies confirm prior analyses using traditional analytical approaches showing associations of SNPs in TOX, GPM6B, and the beta-globin gene-like cluster with HbF levels. We also identified an additional candidate regulatory region in chromosome 15q22 that is associated with HbF level. By stratifying patients by age, our results also suggest that different genes might modulate the rate of decline of HbF and the final level of HbF levels in sickle cell anemia.
  • Variant 2:
    ALOX5AP:c.494+3269T>C
    Gene:
    ALOX5AP
    Genomic location:
    chr13:31333431
    dbSNP ID:
    rs4769058
    Target disease:
    Sickle Cell Anemia(DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered HbF levels 
    Evidence:
    Bayesian approach 
    Effect:
    Different genes might modulate the rate of decline of HbF and the final level of HbF levels in sickle cell anemia.
    Reference:
    PMID17918249
    Title:
    Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations.
    Species studied:
    Human
    Abstract:
    We genotyped single nucleotide polymorphisms (SNPs) in: (1) the beta-globin gene-like cluster, (2) quantitative trait loci (QTL) previously associated with fetal hemoglobin (HbF) concentration on chromosomes 6q, 8q, and Xp, and (3) candidate genes that could effect HbF levels, in sickle cell anemia subjects. HbF concentration was modeled as a continuous variable with values in a finite interval using a novel Bayesian approach. We first tested the associations of SNPs with HbF in a group of 1,518 adults and children (CSSCD study), and validated the results in a second independent group of 211 adults (MSH study). In subjects aged >or=24 years, 5 SNPs in TOX (8q12.1), 2 SNPs in the beta-globin gene-like cluster, 2 SNPs in the Xp QTL, and 1 SNP in chromosome 15q22 were associated with HbF in the CSSCD and also validated in the MSH. Four other SNPs in 15q22 were associated with HbF only in the larger CSSCD data. When patients aged <24 years in the CSSCD were examined, additional genes, including 4 with roles in nitric oxide metabolism, were associated with HbF level. These studies confirm prior analyses using traditional analytical approaches showing associations of SNPs in TOX, GPM6B, and the beta-globin gene-like cluster with HbF levels. We also identified an additional candidate regulatory region in chromosome 15q22 that is associated with HbF level. By stratifying patients by age, our results also suggest that different genes might modulate the rate of decline of HbF and the final level of HbF levels in sickle cell anemia.
  • Variant 3:
    ALOX5AP:c.494+2385A>C
    Gene:
    ALOX5AP
    Genomic location:
    chr13:31332547
    dbSNP ID:
    rs9551963
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Hapb had a frequency of 6.9% and 8.2% in the group without and with chd, respectively, conferring a hazard ratio of 1.48 (95% ci 1.17-1.89, p=0.001) 
    Effect:
    The A allele of the rs9551963 polymorphism was associated with an increased risk of xanthomas, while the A allele of rs17222842 was protective.
    Reference:
    PMID18775537
    Title:
    Arachidonate 5-lipoxygenase-activating protein (ALOX5AP) gene and coronary heart disease risk in familial hypercholesterolemia.
    Species studied:
    Human
    Abstract:
    To investigate the arachidonate 5-lipoxygenase-activating protein (ALOX5AP) gene as a potential modifier gene for coronary heart disease (CHD) in patients with familial hypercholesterolemia (FH).
  • Variant 4:
    ALOX5AP:c.494+154T>C
    Gene:
    ALOX5AP
    Genomic location:
    chr13:31330316
    dbSNP ID:
    rs4468448
    Target disease:
    Sickle Cell Anemia(DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered HbF levels 
    Evidence:
    Bayesian approach 
    Effect:
    Different genes might modulate the rate of decline of HbF and the final level of HbF levels in sickle cell anemia.
    Reference:
    PMID17918249
    Title:
    Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations.
    Species studied:
    Human
    Abstract:
    We genotyped single nucleotide polymorphisms (SNPs) in: (1) the beta-globin gene-like cluster, (2) quantitative trait loci (QTL) previously associated with fetal hemoglobin (HbF) concentration on chromosomes 6q, 8q, and Xp, and (3) candidate genes that could effect HbF levels, in sickle cell anemia subjects. HbF concentration was modeled as a continuous variable with values in a finite interval using a novel Bayesian approach. We first tested the associations of SNPs with HbF in a group of 1,518 adults and children (CSSCD study), and validated the results in a second independent group of 211 adults (MSH study). In subjects aged >or=24 years, 5 SNPs in TOX (8q12.1), 2 SNPs in the beta-globin gene-like cluster, 2 SNPs in the Xp QTL, and 1 SNP in chromosome 15q22 were associated with HbF in the CSSCD and also validated in the MSH. Four other SNPs in 15q22 were associated with HbF only in the larger CSSCD data. When patients aged <24 years in the CSSCD were examined, additional genes, including 4 with roles in nitric oxide metabolism, were associated with HbF level. These studies confirm prior analyses using traditional analytical approaches showing associations of SNPs in TOX, GPM6B, and the beta-globin gene-like cluster with HbF levels. We also identified an additional candidate regulatory region in chromosome 15q22 that is associated with HbF level. By stratifying patients by age, our results also suggest that different genes might modulate the rate of decline of HbF and the final level of HbF levels in sickle cell anemia.
  • Variant 5:
    ALOX5AP:c.*3192G>A
    Gene:
    ALOX5AP
    Genomic location:
    chr13:31341435
    dbSNP ID:
    rs4445746
    Target disease:
    Sickle Cell Anemia(DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered HbF levels 
    Evidence:
    Bayesian approach 
    Effect:
    Different genes might modulate the rate of decline of HbF and the final level of HbF levels in sickle cell anemia.
    Reference:
    PMID17918249
    Title:
    Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations.
    Species studied:
    Human
    Abstract:
    We genotyped single nucleotide polymorphisms (SNPs) in: (1) the beta-globin gene-like cluster, (2) quantitative trait loci (QTL) previously associated with fetal hemoglobin (HbF) concentration on chromosomes 6q, 8q, and Xp, and (3) candidate genes that could effect HbF levels, in sickle cell anemia subjects. HbF concentration was modeled as a continuous variable with values in a finite interval using a novel Bayesian approach. We first tested the associations of SNPs with HbF in a group of 1,518 adults and children (CSSCD study), and validated the results in a second independent group of 211 adults (MSH study). In subjects aged >or=24 years, 5 SNPs in TOX (8q12.1), 2 SNPs in the beta-globin gene-like cluster, 2 SNPs in the Xp QTL, and 1 SNP in chromosome 15q22 were associated with HbF in the CSSCD and also validated in the MSH. Four other SNPs in 15q22 were associated with HbF only in the larger CSSCD data. When patients aged <24 years in the CSSCD were examined, additional genes, including 4 with roles in nitric oxide metabolism, were associated with HbF level. These studies confirm prior analyses using traditional analytical approaches showing associations of SNPs in TOX, GPM6B, and the beta-globin gene-like cluster with HbF levels. We also identified an additional candidate regulatory region in chromosome 15q22 that is associated with HbF level. By stratifying patients by age, our results also suggest that different genes might modulate the rate of decline of HbF and the final level of HbF levels in sickle cell anemia.
  • Variant 6:
    ALOX5AP:c.*1874G>A
    Gene:
    ALOX5AP
    Genomic location:
    chr13:31340117
    dbSNP ID:
    rs17222842
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Hapb had a frequency of 6.9% and 8.2% in the group without and with chd, respectively, conferring a hazard ratio of 1.48 (95% ci 1.17-1.89, p=0.001) 
    Effect:
    The A allele of the rs9551963 polymorphism was associated with an increased risk of xanthomas, while the A allele of rs17222842 was protective.
    Reference:
    PMID18775537
    Title:
    Arachidonate 5-lipoxygenase-activating protein (ALOX5AP) gene and coronary heart disease risk in familial hypercholesterolemia.
    Species studied:
    Human
    Abstract:
    To investigate the arachidonate 5-lipoxygenase-activating protein (ALOX5AP) gene as a potential modifier gene for coronary heart disease (CHD) in patients with familial hypercholesterolemia (FH).