Predictive SNPs for β0-thalassemia/HbE disease severity

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 fr...

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Autores principales:	Thongperm Munkongdee, Sissades Tongsima, Chumpol Ngamphiw, Pongsakorn Wangkumhang, Chayanon Peerapittayamongkol, Hafizah Binti Hashim, Suthat Fucharoen, Saovaros Svasti
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/2fb7c30f8c2f4c37b58cad3ee60ec72e
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spelling	oai:doaj.org-article:2fb7c30f8c2f4c37b58cad3ee60ec72e2021-12-02T15:55:18ZPredictive SNPs for β0-thalassemia/HbE disease severity10.1038/s41598-021-89641-22045-2322https://doaj.org/article/2fb7c30f8c2f4c37b58cad3ee60ec72e2021-05-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-89641-2https://doaj.org/toc/2045-2322Abstract 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.Thongperm MunkongdeeSissades TongsimaChumpol NgamphiwPongsakorn WangkumhangChayanon PeerapittayamongkolHafizah Binti HashimSuthat FucharoenSaovaros SvastiNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Thongperm Munkongdee Sissades Tongsima Chumpol Ngamphiw Pongsakorn Wangkumhang Chayanon Peerapittayamongkol Hafizah Binti Hashim Suthat Fucharoen Saovaros Svasti Predictive SNPs for β0-thalassemia/HbE disease severity
description	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.
format	article
author	Thongperm Munkongdee Sissades Tongsima Chumpol Ngamphiw Pongsakorn Wangkumhang Chayanon Peerapittayamongkol Hafizah Binti Hashim Suthat Fucharoen Saovaros Svasti
author_facet	Thongperm Munkongdee Sissades Tongsima Chumpol Ngamphiw Pongsakorn Wangkumhang Chayanon Peerapittayamongkol Hafizah Binti Hashim Suthat Fucharoen Saovaros Svasti
author_sort	Thongperm Munkongdee
title	Predictive SNPs for β0-thalassemia/HbE disease severity
title_short	Predictive SNPs for β0-thalassemia/HbE disease severity
title_full	Predictive SNPs for β0-thalassemia/HbE disease severity
title_fullStr	Predictive SNPs for β0-thalassemia/HbE disease severity
title_full_unstemmed	Predictive SNPs for β0-thalassemia/HbE disease severity
title_sort	predictive snps for β0-thalassemia/hbe disease severity
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/2fb7c30f8c2f4c37b58cad3ee60ec72e
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Predictive SNPs for β0-thalassemia/HbE disease severity

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