Influences of genetic variation on fetal hemoglobin.
Fetal hemoglobin (HbF) plays a dominant role in ameliorating morbidity and mortality of hemoglobinopathies. The authors performed a replicated study following the genome-wide association study (GWAS) guidelines to identify the genetic mechanics that influence HbF. The authors recruited and phenotyped 312 unrelated β-thalassemia subjects. Single-nucleotide polymorphism (SNP) analysis was performed by using polymerase chain reaction (PCR)/restriction enzymes. Four independent regions of interest were identified: HBS1L-MYB intergenic region, BCL11A locus, β-globin gene cluster, and the CSNK2A1 gene. There were 10 SNPs associated with HbF levels. In addition, haplotypes of HBS1L-MYB and BCL11A were identified and showed association with HbF production. Three independent regions, including HBS1L-MYB intergenic region, BCL11A locus, and β-globin gene cluster, were associated with HbF levels. This study can significantly improve the GWAS findings in Chinese cohorts and is useful for further research in the field of common predictors of the erythropoiesis.
Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
Yunyan
Y
He
Weixiong
W
Lin
Jianming
J
Luo
D000293:Adolescent; D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics; D047390:Casein Kinase II / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D021901:DNA, Intergenic / Q000235:genetics; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D020570:Genes, myb / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D055106:Genome-Wide Association Study; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012097:Repressor Proteins; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
C486563:BCL11A protein, human; D002352:Carrier Proteins; D021901:DNA, Intergenic; D009687:Nuclear Proteins; D012097:Repressor Proteins; D055544:beta-Globins; D005319:Fetal Hemoglobin; C570325:CSNK2A1 protein, human; D047390:Casein Kinase II