Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta0-thalassemia/hemoglobin E.
Increase in fetal hemoglobin (Hb F) reduces globin chain imbalance in beta-thalassemia, consequently improving symptoms. QTL mapping together with previous genome-wide association study involving approximately 110,000 gene-based SNPs in mild and severe beta(0)-thalassemia/Hb E patients revealed SNPs in HBS1L significantly associated with severity and Hb F levels. Given its potential as binding site for transcription factor activator protein 4, HBS1L exon 1 C32T polymorphism was genotyped in 455 cases, providing for the first time evidence that C allele is associated with elevated Hb F level among beta(0)-thalassemia/Hb E patients with XmnI-(G)gamma-/-and XmnI-(G)gamma+/-polymorphisms.
Pandit
Riyaz A
RA
Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Salaya Campus, Nakornpathom, Thailand.|Institute of Molecular Biology and Genetics, Mahidol University, Salaya Campus, Nakornpathom, Thailand.
Svasti
Saovaros
S
Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Salaya Campus, Nakornpathom, Thailand.|Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok, Thailand.
Sripichai
Orapan
O
Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Salaya Campus, Nakornpathom, Thailand.|Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok, Thailand.
Munkongdee
Thongperm
T
Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Salaya Campus, Nakornpathom, Thailand.|Department of Biochemistry, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, 10700, Thailand.
Triwitayakorn
Kanokporn
K
Institute of Molecular Biology and Genetics, Mahidol University, Salaya Campus, Nakornpathom, Thailand.
Winichagoon
Pranee
P
Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Salaya Campus, Nakornpathom, Thailand.
Fucharoen
Suthat
S
Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Salaya Campus, Nakornpathom, Thailand.|Department of Biochemistry, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, 10700, Thailand.
Peerapittayamongkol
Chayanon
C
Department of Biochemistry, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, 10700, Thailand. sicpr@mahidol.ac.th.
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D005091:Exons / Q000235:genetics*; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis*; D015894:Genome, Human / Q000235:genetics; D018840:HSP70 Heat-Shock Proteins / Q000235:genetics* / Q000378:metabolism; D006446:Hemoglobin E; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci / Q000235:genetics; D017086:beta-Thalassemia / Q000097:blood* / Q000235:genetics*
D018840:HSP70 Heat-Shock Proteins; D006446:Hemoglobin E; D005319:Fetal Hemoglobin