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Predictive SNPs for β0-thalassemia/HbE disease severity
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Document Title
Predictive SNPs for β0-thalassemia/HbE disease severity
Author
Munkongdee T., Tongsima S., Ngamphiw C., Wangkumhang P., Peerapittayamongkol C., Hashim H.B., Fucharoen S., Svasti S.
Name from Authors Collection
Affiliations
Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, Thailand; National Biobank of Thailand (NBT), National Science and Technology Development Agency (NSTDA), Pathum Thani, Thailand; Pathology Department, Hospital Sultanah Bahiyah, Kedah, Malaysia; Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok, Thailand
Type
Article
Source Title
Scientific Reports
ISSN
20452322
Year
2021
Volume
11
Issue
1
Open Access
Gold, Green
Publisher
Nature Research
DOI
10.1038/s41598-021-89641-2
Abstract
β-Thalassemia/HbE disease has a wide spectrum of clinical phenotypes ranging from asymptomatic to dependent on regular blood transfusions. Ability to predict disease severity is helpful for clinical management and treatment decision making. A thalassemia severity score has been developed from Mediterranean β-thalassemia patients. However, different ethnic groups may have different allele frequency and linkage disequilibrium structures. Here, Thai β0-thalassemia/HbE disease genome-wild association studies (GWAS) data of 487 patients were analyzed by SNP interaction prioritization algorithm, interacting Loci (iLoci), to find predictive SNPs for disease severity. Three SNPs from two SNP interaction pairs associated with disease severity were identifies. The three-SNP disease severity risk score composed of rs766432 in BCL11A, rs9399137 in HBS1L-MYB and rs72872548 in HBE1 showed more than 85% specificity and 75% accuracy. The three-SNP predictive score was then validated in two independent cohorts of Thai and Malaysian β0-thalassemia/HbE patients with comparable specificity and accuracy. The SNP risk score could be used for prediction of clinical severity for Southeast Asia β0-thalassemia/HbE population. © 2021, The Author(s).
Industrial Classification
Knowledge Taxonomy Level 1
Knowledge Taxonomy Level 2
Knowledge Taxonomy Level 3
Funding Sponsor
Office of the Higher Education Commission; Mahidol University; National Science and Technology Development Agency; Thailand Research Fund; Faculty of Tropical Medicine, Mahidol University; Faculty of Science, Mahidol University; Faculty of Public Health, Mahidol University; Faculty of Medicine Siriraj Hospital, Mahidol University; Department of Physiology, Mahidol University
License
CC BY
Rights
Author
Publication Source
Scopus