Variant "NOS2:c.1155C>T(p.Asp385Asp)"
Search result: 1 record
Variant information
Gene:
NOS2 
Variant:
NOS2:c.1155C>T(p.Asp385Asp) 
Genomic location:
chr17:26105932(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000625.4:c.1155C>T(p.Asp385Asp)
dbSNP ID:
rs1137933  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered response to hydroxyurea(1)  
Detail：
  • Target disease:
    Sickle Cell Anemia (DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered response to hydroxyurea 
    Evidence:
    Recessive model: P=0.031 
    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.