PhenoModifier-Variant Detail

Variant "FLT1:c.1552-2416C>T"

Search result: 1 record

Variant information

Gene:

FLT1

Variant:

FLT1:c.1552-2416C>T

Genomic location:

chr13:28973621(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_002019.4:c.1552-2416C>T
protein_coding	NM_001160030.1:c.1552-2416C>T
protein_coding	NM_001159920.1:c.1552-2416C>T
protein_coding	NM_001160031.1:c.1552-366C>T

dbSNP ID:

rs9319428

GWAS trait:

coronary artery disease

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=0.044

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.