Variant "NONE:c.*828G>A"
Search result: 1 record
Variant information
Gene:
NONE 
Variant:
NONE:c.*828G>A 
Genomic location:
chr11:5246000(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000518.4:c.*828G>A
OR51V1-HBB:n.5246000C>T
dbSNP ID:
rs11036351  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Sickle Cell Anemia (DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Haplotypes (rs11036351,rs4320977,rs16912210,rs2855039,rs7482144) are associated with fetal haemoglobin 
    Effect:
    These SNP-defined βS-haplotypes may be associated with ACS, but not pain or SCI in a study population of children with SCA.
    Reference:
    PMID23952145
    Title:
    Acute chest syndrome is associated with single nucleotide polymorphism-defined beta globin cluster haplotype in children with sickle cell anaemia.
    Species studied:
    Human
    Abstract:
    Genetic diversity at the human β-globin locus has been implicated as a modifier of sickle cell anaemia (SCA) severity. However, haplotypes defined by restriction fragment length polymorphism sites across the β-globin locus have not been consistently associated with clinical phenotypes. To define the genetic structure at the β-globin locus more thoroughly, we performed high-density single nucleotide polymorphism (SNP) mapping in 820 children who were homozygous for the sickle cell mutation (HbSS). Genotyping results revealed very high linkage disequilibrium across a large region spanning the locus control region and the HBB (β-globin gene) cluster. We identified three predominant haplotypes accounting for 96% of the β(S) -carrying chromosomes in this population that could be distinguished using a minimal set of common SNPs. Consistent with previous studies, fetal haemoglobin level was significantly associated with β(S) -haplotypes. After controlling for covariates, an association was detected between haplotype and rate of hospitalization for acute chest syndrome (ACS) (incidence rate ratio 0·51, 95% confidence interval 0·29-0·89) but not incidence rate of vaso-occlusive pain or presence of silent cerebral infarct (SCI). Our results suggest that these SNP-defined β(S) -haplotypes may be associated with ACS, but not pain or SCI in a study population of children with SCA.