Variant "BCL11A:rs189984760"
Search result: 1 record
Variant information
Gene:
BCL11A 
Variant:
BCL11A:rs189984760 
Genomic location:
chr2:60738508(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_022893.3:c.385+34598T>C
protein_coding NM_018014.3:c.385+34598T>C
protein_coding NM_138559.1:c.385+34598T>C
dbSNP ID:
rs189984760  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered Hb F levels(1)  
Detail：
  • Target disease:
    Beta Thalassemia (DOID_12241)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered Hb F levels 
    Evidence:
    OR=2.61, P<0.01 
    Effect:
    High-risk genotypes of six Hb F-associated SNPs, rs9376090, rs7776054, rs9399137, rs9389268, rs9402685 in the HBS1L-MYB intergenic region and rs189984760 in the BCL11A locus, showed association with high Hb F levels
    Reference:
    PMID28361591
    Title:
    Genetic Variants at BCL11A and HBS1L-MYB loci Influence Hb F Levels in Chinese Zhuang β-Thalassemia Intermedia Patients.
    Species studied:
    Human
    Abstract:
    Increased Hb F levels can ameliorate the symptoms of β-thalassemia (β-thal). Due to the genetic heterogenicity of β-thal, the relationship between genetic variants in modifier genes and Hb F level has been studied in different populations. The Chinese Zhuang has the second largest population in China and has 6.78% prevalence of β-thal. However, the effects of these single nucleotide polymorphism (SNP) variants on the Hb F levels of β-thal intermedia (β-TI) patients in this population have not been reported. To explore the association between modifier loci (β-globin gene cluster, HBS1L-MYB intergenic region and BCL11A) and Hb F levels in Chinese Zhuang β-TI patients, 96 unrelated β-TI patients (50 males and 46 females) with different Hb F levels were recruited and genotyped by mass spectrometry. A total of 13 SNPs were confirmed to be in a significant relationship with Hb F levels in this population. Of these, high-risk genotypes of six Hb F-associated SNPs, rs9376090, rs7776054, rs9399137, rs9389268, rs9402685 in the HBS1L-MYB intergenic region and rs189984760 in the BCL11A locus, showed association with high Hb F levels, especially for SNPs in linkage disequilibrium. One novel Hb F-associated SNP, rs189984760, was identified in our study. Our findings will be of valuable reference for correlation between modifier genes and Hb F in Chinese Zhuang populations and may lead to better understand the modifying mechanisms for β-thal.