The impact of Hb F on severity of sickle cell disease and β-thalassemia (β-thal) is well documented. The XmnI-HBG2, BCL11A and HBS1L-MYB single nucleotide polymorphisms (SNPs) have been introduced as the most important factors causing variation in fetal hemoglobin (Hb F) levels in different population studies. However, the extent of their effect could be population-specific. In this study, multivariate linear regression analysis was used to evaluate the association of Hb F with age, sex, and eight SNPs, including XmnI-HBG2, four BCL11A, two HBS1L-MYB SNPs and the polymorphic palindromic 5' hypersensitive 4-locus control region (5'HS4-LCR). One hundred and twenty-two hematologically normal individuals, from a previous study cohort, constituted our study population. In multivariate regression analyses, no association of Hb F was observed with age or sex of the individuals and SNPs in this study. We conducted a univariate regression analysis to further investigate the results, which among all the factors only detected XmnI-HBG2 and 5'HS4 SNPs as significant modifiers of Hb F. The significance of these two factors disappeared in a bivariate analysis. These results suggest that either XmnI-HBG2 or 5'HS4-LCR have a stronger contribution in Hb F variations of the Iranian population than BCL11A and HBS1L-MYB SNPs. Furthermore, the effect of low population size and technical limitations on obtained results could not be ruled out.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3109/03630269.2016.1160920 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Associations between and polymorphisms and thalassemia risk.
J Taibah Univ Med Sci
October 2024
Department of Pathology, College of Medicine, Taif University, Taif, Saudi Arabia.
Objectives: This study investigated the associations of the rs4671393, rs1427407, and rs11886868 genetic variants of the gene and the rs9399137 variant of the gene with thalassemia in patients from the population of Punjab, Pakistan.
Methods: A cohort of 600 participants, comprising 300 patients with thalassemia and 300 age- and sex-matched healthy controls, was recruited from various hospitals in Punjab, Pakistan. DNA was extracted from whole blood samples from all participants.
Genetic Polymorphisms Associated with Fetal Hemoglobin (HbF) Levels and F-Cell Numbers: A Systematic Review of Genome-Wide Association Studies.
Int J Mol Sci
October 2024
Molecular Genetics Thalassemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.
Article Synopsis
- Elevated fetal hemoglobin (HbF) can reduce disease severity in β hemoglobinopathies, and understanding its genetic basis may lead to personalized treatments.
- A systematic review of GWAS studies identified 939 significant SNP-trait associations linked to HbF, focusing on genes primarily located on chromosomes 2, 6, and 11, among others.
- The study emphasizes the need for further research on less frequently associated genetic loci and suggests a focus on diverse populations to improve therapeutic strategies for conditions like sickle cell disease and β-thalassemia.
Genotyping the Single Nucleotide Polymorphism and Associated Levels of Fetal Hemoglobin in Mauritanian Sickle Cell Patients.
Front Biosci (Schol Ed)
June 2024
Unité de Recherche Génomes et Milieux, Faculté des Sciences et Techniques, Université de Nouakchott, Nouveau Campus Universitaire, BP 5026, Nouakchott, Mauritanie.
Background: Sickle cell disease (SCD) is a major heritable genetic disease in sub-Saharan Africa, including Mauritania. Fetal hemoglobin (HbF) can affect the pathophysiology, moderate the clinical course, and offer prospects for curative treatment of SCD. This study aimed to investigate the influence of single nucleotide polymorphisms (SNPs) in the gene on the levels of HbF and hematological parameters in Mauritanian sickle cell () patients.
View Article and Find Full Text PDFFoetal haemoglobin elevation, unfavourable prognosis, and protective role of genetic variants rs7482144, rs9399137 and rs4671393 in children with ALL.
J Genet
May 2024
División de Medicina Molecular, Centro de Investigación Biomédica de Occidente (CIBO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Mexico.
In acute lymphoblastic leukaemia (ALL), elevated foetal haemoglobin (HbF) levels have been associated with the prognosis of patients. Genetic variants in HbF regulatory genes: BAF chromatin remodelling complex subunit (), HBS1L-MYB transcriptional GTPase intergenic region (), Krüppel-like factor 1 (), haemoglobin gamma subunit 2 (), haemoglobin gamma subunit 1 (HBG1), and haemoglobin subunit beta pseudogene 1 () are often associatedwith elevatedHbF concentration. This study investigated the association of genetic variants in HbF regulatory genes with HbF concentration, unfavourable prognosis, and outcome in children with ALL.
View Article and Find Full Text PDFGenetic Modifiers of Sickle Cell Anemia Phenotype in a Cohort of Angolan Children.
Genes (Basel)
April 2024
H&TRC-Health & Technology Research Center, ESTeSL-Escola Superior de Tecnologia da Saúde, Instituto Politécnico de Lisboa, 1990-096 Lisbon, Portugal.
Article Synopsis
- * Researchers analyzed samples from 192 patients, discovering over 5 million high-quality genetic variants and identifying specific genes associated with worsening vaso-occlusive crises (VOC) and lower fetal hemoglobin (HbF) levels.
- * This research highlights the complex genetic factors influencing SCA symptoms and represents the first detailed investigation of its clinical variations in Angola, suggesting potential genetic modifiers related to patient phenotypes.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!