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Genome Wide Association Study of Fetal Hemoglobin in Sickle Cell Anemia in Tanzania

Mtatiro, S. N., Singh, T., Rook, H., Mgaya, J., Mariki, H., Soka, D., Mmbando, B., Msaki, E., Kolder, I., Thein, S. L., Menzel, S., Cox, S. E., Makani, J. and Barrett, J. C. (2014) Genome Wide Association Study of Fetal Hemoglobin in Sickle Cell Anemia in Tanzania. PLoS ONE. ISSN 1932-6203

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Fetal hemoglobin (HbF) is an important modulator of sickle cell disease (SCD). HbF has previously been shown to be affected by variants at three loci on chromosomes 2, 6 and 11, but it is likely that additional loci remain to be discovered. We conducted a genome-wide association study (GWAS) in 1,213 SCA (HbSS/HbSb0) patients in Tanzania. Genotyping was done with Illumina Omni2.5 array and imputation using 1000 Genomes Phase I release data. Association with HbF was analysed using a linear mixed model to control for complex population structure within our study. We successfully replicated known associations for HbF near BCL11A and the HBS1L-MYB intergenic polymorphisms (HMIP), including multiple independent effects near BCL11A, consistent with previous reports. We observed eight additional associations with P,1026. These associations could not be replicated in a SCA population in the UK. This is the largest GWAS study in SCA in Africa. We have confirmed known associations and identified new genetic associations with HbF that require further replication in SCA populations in Africa.

Item Type: Article
Keywords: Sickle Cell Anemia, Fetal hemoglobin (HbF), Genome-wide Association Study, GWAS, Tanzania
Subjects: Health Systems > Community Health
Divisions: Muhimbili University of Health and Allied Sciences (MUHAS)
Depositing User: Mr Joseph Madata
Date Deposited: 20 Nov 2014 12:28
Last Modified: 20 Nov 2014 12:28

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