Publication: A novel SNP rs11759328 on Rho GTPase-activating protein 18 gene is associated with the expression of Hb F in hemoglobin E-related disorders
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Issued Date
2020
Resource Type
File Type
application/pdf
ISSN
9395555
Other identifier(s)
2-s2.0-85075860594
Rights Holder(s)
Scopus
Bibliographic Citation
Annals of Hematology. Vol 99, No.1 (2020), p.23-29
Suggested Citation
Jomoui W., Tepakhan W., Yamsri S., Srivorakun H., Fucharoen G., Fucharoen S. A novel SNP rs11759328 on Rho GTPase-activating protein 18 gene is associated with the expression of Hb F in hemoglobin E-related disorders. Annals of Hematology. Vol 99, No.1 (2020), p.23-29. doi:10.1007/s00277-019-03862-0 Retrieved from: https://hdl.handle.net/20.500.14740/4764
Abstract
Hemoglobin (Hb) F has a modulatory effect on the clinical phenotype of β-thalassemia disease. High expression of Hb F in Hb E-related disorders has been noted, but the mechanism is not well understood. We have examined the association of a novel SNP rs11759328 on ARHGAP 18 gene and other known modulators with a variability of Hb F in Hb E-related disorders. Genotyping of SNP rs11759328 (G/A) was performed based on high-resolution melting analysis. The rs11759328 (A allele) was shown to be significantly associated with Hb F levels (p < 0.05) in heterozygous and homozygous Hb E. High levels of Hb F in both heterozygous and homozygous Hb E were also found to be associated with SNPs in the study of other modifying genes including KLF 1 mutation, rs7482144 (Gγ-XmnI), rs4895441, rs9399137 of (HBS1L-MYB), and rs4671393 (BCL11A). Multivariate analysis showed that KLF1 mutation and SNP rs11759328 (GA) (ARHGAP18) modulated Hb F expression in heterozygous Hb E. For homozygous Hb E, this was found to be related to five modifying factors, i.e., KLF1 mutation, rs4895441 (GG), rs9399137 (CC), rs4671393 (AA), and rs4671393 (GA). These results indicate that a novel SNP rs11759328 is a genetically modifying factor associated with increased Hb F in Hb E disorder. © 2019, Springer-Verlag GmbH Germany, part of Springer Nature.
Subject(s)
Hemoglobin F
Rho guanine nucleotide binding protein
ARHGAP18 protein, human
Erythroid Kruppel-like factor
Guanosine triphosphatase activating protein
Hemoglobin E
Hemoglobin F
Kruppel like factor
Allele
ARHGAP18 gene
Article
BCL11A gene
Controlled study
Disease association
Gene expression
Gene mutation
Genetic association
Genotype
Gy XmnI gene
HBS1L MYB gene
Hemoglobin E-beta thalassemia
Heterozygote
High resolution melting analysis
Homozygote
KLF 1 gene
Pathogenesis
Priority journal
Single nucleotide polymorphism
Biosynthesis
Blood
Clinical trial
Gene expression regulation
Genetics
Hemoglobinuria
Human
Metabolism
Mutation
Thailand
Fetal Hemoglobin
Gene Expression Regulation
GTPase-Activating Proteins
Hemoglobin E
Hemoglobinuria
Humans
Kruppel-Like Transcription Factors
Mutation
Polymorphism, Single Nucleotide
Thailand
Rho guanine nucleotide binding protein
ARHGAP18 protein, human
Erythroid Kruppel-like factor
Guanosine triphosphatase activating protein
Hemoglobin E
Hemoglobin F
Kruppel like factor
Allele
ARHGAP18 gene
Article
BCL11A gene
Controlled study
Disease association
Gene expression
Gene mutation
Genetic association
Genotype
Gy XmnI gene
HBS1L MYB gene
Hemoglobin E-beta thalassemia
Heterozygote
High resolution melting analysis
Homozygote
KLF 1 gene
Pathogenesis
Priority journal
Single nucleotide polymorphism
Biosynthesis
Blood
Clinical trial
Gene expression regulation
Genetics
Hemoglobinuria
Human
Metabolism
Mutation
Thailand
Fetal Hemoglobin
Gene Expression Regulation
GTPase-Activating Proteins
Hemoglobin E
Hemoglobinuria
Humans
Kruppel-Like Transcription Factors
Mutation
Polymorphism, Single Nucleotide
Thailand