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The Effect of Single Nucleotide Polymorphisms on Clinical Phenotypes of Sabahan Transfusion-Dependent β-Thalassemia Patients with Homozygous Filipino β-Deletion.
Hemoglobin
January 2025
Department of Biomedical and Science Therapeutic, Faculty of Medicine and Health Sciences, Universiti Malaysia Sabah, Kota Kinabalu, Malaysia.
Sabah has the highest prevalence of β-thalassemia in Malaysia, with the Filipino β-deletion as the predominant mutation. Patients with the homozygous Filipino β-deletion exhibit phenotypic heterogeneity due to various genetic modifiers, yet the effects of these modifiers on the clinical phenotype remain poorly understood. This study investigated the effects of the coinheritance of α-thalassemia, I-γ rs7482144, rs766432, and 5'HS4 rs16912979 polymorphisms on the clinical phenotype of homozygous Filipino β-deletion patients in Sabah.
View Article and Find Full Text PDFEnhanced fetal hemoglobin production via dual-beneficial mutation editing of the HBG promoter in hematopoietic stem and progenitor cells for β-hemoglobinopathies.
Stem Cell Res Ther
December 2024
Centre for Stem Cell Research (CSCR), A Unit of InStem Bengaluru, Christian Medical College Campus, Vellore, Tamil Nadu, 632002, India.
Background: Sickle cell disease (SCD) and β-thalassemia patients with elevated gamma globin (HBG1/G2) levels exhibit mild or no symptoms. To recapitulate this natural phenomenon, the most coveted gene therapy approach is to edit the regulatory sequences of HBG1/G2 to reactivate them. By editing more than one regulatory sequence in the HBG promoter, the production of fetal hemoglobin (HbF) can be significantly increased.
View Article and Find Full Text PDFA catalog of gene editing sites and genetic variations in editing sites in model organisms.
BMC Genomics
November 2024
CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Background: CRISPR-Cas systems require a protospacer adjacent motif (PAM), which plays an essential role in self/non-self discrimination in their natural context, to cleave DNA for genome editing. Unfortunately, common genetic variation is distributed throughout genomes, which can block recognition of target sites by Cas proteins. However, little information is available about the distribution of editing sites in model organisms and how often common variation overlaps with those PAM sites.
View Article and Find Full Text PDFAssociations 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.
Gastroesophageal reflux disease increases predisposition to severe COVID-19: Insights from integrated Mendelian randomization and genetic analysis.
Ann Hum Genet
January 2025
Department of Microbiology, Zhejiang Provincial Centers for Disease Control and Prevention, Hangzhou, China.
Objective: This study aims to investigate the potential causal relationship, shared genomic loci, as well as potential molecular pathways and tissue-specific expression patterns between gastroesophageal reflux disease (GERD) and the risk of hospitalized/severe 2019 coronavirus disease (COVID-19).
Methods: We employed linkage disequilibrium score regression and bidirectional Mendelian randomization (MR) analysis to explore potential genetic associations between GERD (N = 602,604) and hospitalized COVID-19 (N = 2095,324) as well as severe COVID-19 (N = 1086,211). Additionally, shared genomic loci were extracted from common pivotal regions, further confirmed through corresponding colocalization analyses.
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