title: Genetic Variants at BCL11A and HBS1L-MYB loci Influence Hb F Levels in Chinese Zhuang β-Thalassemia Intermedia Patients.
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.
authors.affiliation: a Genetic and Metabolic Central Laboratory , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , Guangxi Province , People's Republic of China.
authors.forename: Yunli
authors.initials: Y
authors.lastname: Lai
authors.affiliation: a Genetic and Metabolic Central Laboratory , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , Guangxi Province , People's Republic of China.
authors.forename: Yun
authors.initials: Y
authors.lastname: Chen
authors.affiliation: a Genetic and Metabolic Central Laboratory , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , Guangxi Province , People's Republic of China.
authors.forename: Biyan
authors.initials: B
authors.lastname: Chen
authors.affiliation: a Genetic and Metabolic Central Laboratory , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , Guangxi Province , People's Republic of China.
authors.forename: Haiyang
authors.initials: H
authors.lastname: Zheng
authors.affiliation: a Genetic and Metabolic Central Laboratory , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , Guangxi Province , People's Republic of China.
authors.forename: Sheng
authors.initials: S
authors.lastname: Yi
authors.affiliation: b Guangxi Health and Family Planning Commission , Nanning , Guangxi Province , People's Republic of China.
authors.forename: Guojian
authors.initials: G
authors.lastname: Li
authors.affiliation: a Genetic and Metabolic Central Laboratory , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , Guangxi Province , People's Republic of China.
authors.forename: Hongwei
authors.initials: H
authors.lastname: Wei
authors.affiliation: a Genetic and Metabolic Central Laboratory , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , Guangxi Province , People's Republic of China.
authors.forename: Sheng
authors.initials: S
authors.lastname: He
authors.affiliation: a Genetic and Metabolic Central Laboratory , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , Guangxi Province , People's Republic of China.
authors.forename: Chenguang
authors.initials: C
authors.lastname: Zheng
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D021901:DNA, Intergenic; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis*; D019204:GTP-Binding Proteins / Q000235:genetics*; D060045:Genes, Modifier; D014644:Genetic Variation; D018840:HSP70 Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D010445:Peptide Elongation Factors / Q000235:genetics*; D020598:Proto-Oncogene Proteins c-myb / Q000235:genetics*; D012097:Repressor Proteins; D055815:Young Adult; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: C486563:BCL11A protein, human; D002352:Carrier Proteins; D021901:DNA, Intergenic; D018840:HSP70 Heat-Shock Proteins; D009687:Nuclear Proteins; D010445:Peptide Elongation Factors; D020598:Proto-Oncogene Proteins c-myb; D012097:Repressor Proteins; D005319:Fetal Hemoglobin; D019204:GTP-Binding Proteins; C000628258:HBS1L protein, human
keywords: Hb F; genetic variants; modifier loci; single nucleotide polymorphism (SNP); β-Thalassemia intermedia (β-TI)