Gene "PDE7B"
Found 6 records
Gene information
Gene symbol:
PDE7B
See related:
Ensembl: ENSG00000171408, Gene ID: 27115
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
6 
Disorder:
1 
Vriant:
6 
Reference:
2 
Effect type:
Expressivity(6)  
Modifier effect:
Altered response to hydroxyurea(5) ,Altered baseline HbF level(1)  
Details：
  • Variant 1:
    PDE7B:c.949-537G>A
    Gene:
    PDE7B
    Genomic location:
    chr6:136501828
    dbSNP ID:
    rs487278
    Target disease:
    Sickle Cell Anemia(DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered response to hydroxyurea 
    Evidence:
    Recessive model: P=0.041 
    Effect:
    Polymorphisms in genes regulating HbF expression, HU metabolism and erythroid progenitor proliferation might modulate the patient response to HU
    Reference:
    PMID17299377
    Title:
    Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea.
    Species studied:
    Human
    Abstract:
    The increase in fetal hemoglobin (HbF) in response to hydroxyurea (HU) varies among patients with sickle cell anemia. Twenty-nine candidate genes within loci previously reported to be linked to HbF level (6q22.3-q23.2, 8q11-q12 and Xp22.2-p22.3), involved in metabolism of HU and related to erythroid progenitor proliferation were studied in 137 sickle cell anemia patients treated with HU. Three-hundred and twenty tagging single nucleotide polymorphisms (SNPs) for genotyping were selected based on HapMap data. Multiple linear regression and the nonlinear regression Random Forest method were used to investigate the association between SNPs and the change in HbF level after 2 years of treatment with HU. Both methods revealed that SNPs in genes within the 6q22.3-23.2 and 8q11-q12 linkage peaks, and also the ARG2, FLT1, HAO2 and NOS1 genes were associated with the HbF response to HU. Polymorphisms in genes regulating HbF expression, HU metabolism and erythroid progenitor proliferation might modulate the patient response to HU.
  • Variant 2:
    PDE7B:c.83-76564C>T
    Gene:
    PDE7B
    Genomic location:
    chr6:136353305
    dbSNP ID:
    rs11154849
    Target disease:
    Sickle Cell Anemia(DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered response to hydroxyurea 
    Evidence:
    Dominant model: P=0.05 
    Effect:
    Polymorphisms in genes regulating HbF expression, HU metabolism and erythroid progenitor proliferation might modulate the patient response to HU
    Reference:
    PMID17299377
    Title:
    Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea.
    Species studied:
    Human
    Abstract:
    The increase in fetal hemoglobin (HbF) in response to hydroxyurea (HU) varies among patients with sickle cell anemia. Twenty-nine candidate genes within loci previously reported to be linked to HbF level (6q22.3-q23.2, 8q11-q12 and Xp22.2-p22.3), involved in metabolism of HU and related to erythroid progenitor proliferation were studied in 137 sickle cell anemia patients treated with HU. Three-hundred and twenty tagging single nucleotide polymorphisms (SNPs) for genotyping were selected based on HapMap data. Multiple linear regression and the nonlinear regression Random Forest method were used to investigate the association between SNPs and the change in HbF level after 2 years of treatment with HU. Both methods revealed that SNPs in genes within the 6q22.3-23.2 and 8q11-q12 linkage peaks, and also the ARG2, FLT1, HAO2 and NOS1 genes were associated with the HbF response to HU. Polymorphisms in genes regulating HbF expression, HU metabolism and erythroid progenitor proliferation might modulate the patient response to HU.
  • Variant 3:
    PDE7B:c.83-70423A>C
    Gene:
    PDE7B
    Genomic location:
    chr6:136359446
    dbSNP ID:
    rs9376173
    Target disease:
    Sickle Cell Anemia(DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered response to hydroxyurea 
    Evidence:
    Recessive model: P=0.049 
    Effect:
    Polymorphisms in genes regulating HbF expression, HU metabolism and erythroid progenitor proliferation might modulate the patient response to HU
    Reference:
    PMID17299377
    Title:
    Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea.
    Species studied:
    Human
    Abstract:
    The increase in fetal hemoglobin (HbF) in response to hydroxyurea (HU) varies among patients with sickle cell anemia. Twenty-nine candidate genes within loci previously reported to be linked to HbF level (6q22.3-q23.2, 8q11-q12 and Xp22.2-p22.3), involved in metabolism of HU and related to erythroid progenitor proliferation were studied in 137 sickle cell anemia patients treated with HU. Three-hundred and twenty tagging single nucleotide polymorphisms (SNPs) for genotyping were selected based on HapMap data. Multiple linear regression and the nonlinear regression Random Forest method were used to investigate the association between SNPs and the change in HbF level after 2 years of treatment with HU. Both methods revealed that SNPs in genes within the 6q22.3-23.2 and 8q11-q12 linkage peaks, and also the ARG2, FLT1, HAO2 and NOS1 genes were associated with the HbF response to HU. Polymorphisms in genes regulating HbF expression, HU metabolism and erythroid progenitor proliferation might modulate the patient response to HU.
  • Variant 4:
    PDE7B:c.804-607C>T
    Gene:
    PDE7B
    Genomic location:
    chr6:136499528
    dbSNP ID:
    rs1480642
    Target disease:
    Sickle Cell Anemia(DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered response to hydroxyurea 
    Evidence:
    Recessive model: P=0.044 
    Effect:
    Polymorphisms in genes regulating HbF expression, HU metabolism and erythroid progenitor proliferation might modulate the patient response to HU
    Reference:
    PMID17299377
    Title:
    Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea.
    Species studied:
    Human
    Abstract:
    The increase in fetal hemoglobin (HbF) in response to hydroxyurea (HU) varies among patients with sickle cell anemia. Twenty-nine candidate genes within loci previously reported to be linked to HbF level (6q22.3-q23.2, 8q11-q12 and Xp22.2-p22.3), involved in metabolism of HU and related to erythroid progenitor proliferation were studied in 137 sickle cell anemia patients treated with HU. Three-hundred and twenty tagging single nucleotide polymorphisms (SNPs) for genotyping were selected based on HapMap data. Multiple linear regression and the nonlinear regression Random Forest method were used to investigate the association between SNPs and the change in HbF level after 2 years of treatment with HU. Both methods revealed that SNPs in genes within the 6q22.3-23.2 and 8q11-q12 linkage peaks, and also the ARG2, FLT1, HAO2 and NOS1 genes were associated with the HbF response to HU. Polymorphisms in genes regulating HbF expression, HU metabolism and erythroid progenitor proliferation might modulate the patient response to HU.
  • Variant 5:
    PDE7B:c.711+4495A>G
    Gene:
    PDE7B
    Genomic location:
    chr6:136481391
    dbSNP ID:
    rs509342
    Target disease:
    Sickle Cell Anemia(DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered baseline HbF level 
    Evidence:
    P<0.05 
    Effect:
    The polymorphisms may harbor trans-acting elements that help modulate baseline HbF level in sickle cell anemia.
    Reference:
    PMID15040424
    Title:
    Polymorphisms near a chromosome 6q QTL area are associated with modulation of fetal hemoglobin levels in sickle cell anemia.
    Species studied:
    Human
    Abstract:
    In patients with sickle cell anemia, fetal hemoglobin (HbF) concentrations vary by 2 orders of magnitude. This variance may be a result of heterogeneity in gene regulatory elements; accordingly, we searched for single nucleotide polymorphisms (SNPs) that might identify this variation. More than 180 SNPs were studied in 38 genes in 280 sickle cell anemia patients. The strongest association with HbF was found with SNPs near a QTL previously localized on chromosome 6q22.3-q23.2. Initially, two SNPs were identified in intergenic portions of this QTL and were associated with about a 20% difference in percent HbF. Subsequently, we genotyped 44 additional SNPs in the genomic region between 136.1 Mb and 137.5 Mb on chromosome 6q. Twelve SNPs, associated with a 20%-30% difference in HbF concentrations, were located in the introns of four genes, PDE7B, MAP7, MAP3K5 and PEX7. In K562 cells, the p38-MAPK pathway has been associated with the activation of gamma-globin gene expression by histone deacetylase inhibitors. Haplotypes C-T-T-T in MAP7 and T-C-C in PEX7 were significantly associated with increases in concentration of HbF, both showing strong dominance. Genetic elements abutting the 6q22.3-q23.2 QTL, may harbor trans-acting elements that help modulate baseline HbF level in sickle cell anemia.
  • Variant 6:
    PDE7B:c.21+42525C>G
    Gene:
    PDE7B
    Genomic location:
    chr6:136215682
    dbSNP ID:
    rs2327669
    Target disease:
    Sickle Cell Anemia(DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered response to hydroxyurea 
    Evidence:
    Recessive model: P=0.017 
    Effect:
    Polymorphisms in genes regulating HbF expression, HU metabolism and erythroid progenitor proliferation might modulate the patient response to HU
    Reference:
    PMID17299377
    Title:
    Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea.
    Species studied:
    Human
    Abstract:
    The increase in fetal hemoglobin (HbF) in response to hydroxyurea (HU) varies among patients with sickle cell anemia. Twenty-nine candidate genes within loci previously reported to be linked to HbF level (6q22.3-q23.2, 8q11-q12 and Xp22.2-p22.3), involved in metabolism of HU and related to erythroid progenitor proliferation were studied in 137 sickle cell anemia patients treated with HU. Three-hundred and twenty tagging single nucleotide polymorphisms (SNPs) for genotyping were selected based on HapMap data. Multiple linear regression and the nonlinear regression Random Forest method were used to investigate the association between SNPs and the change in HbF level after 2 years of treatment with HU. Both methods revealed that SNPs in genes within the 6q22.3-23.2 and 8q11-q12 linkage peaks, and also the ARG2, FLT1, HAO2 and NOS1 genes were associated with the HbF response to HU. Polymorphisms in genes regulating HbF expression, HU metabolism and erythroid progenitor proliferation might modulate the patient response to HU.