Study
The malaria-protective human glycophorin structural variant DUP4 shows somatic mosaicism and association with hemoglobin levels
Study ID | Alternative Stable ID | Type |
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EGAS00001003239 | Other |
Study Description
Glycophorin A and glycophorin B are red blood cell surface proteins that are both receptors for the parasite Plasmodium falciparum, which is the principal cause of malaria in sub-Saharan Africa. DUP4 is a complex structural genomic variant that carries extra copies of a glycophorin A - glycophorin B fusion gene, and has a dramatic effect on malaria risk by reducing the risk of severe malaria by up to 40% Using fiber-FISH and Illumina sequencing, we validate the structural arrangement of the glycophorin locus in the DUP4 variant, and reveal somatic variation in copy number of the glycophorin A- glycophorin B fusion gene. By developing a simple, specific, PCR-based assay for DUP4 we show the DUP4 variant reaches a frequency of 13% in a malaria-endemic village in south-eastern Tanzania. We genotype a substantial proportion of that village and demonstrate an association of DUP4 genotype with hemoglobin levels, a phenotype related to malaria, using a family-based association test. Taken together, we show that DUP4 is a complex structural variant that may be susceptible to somatic ... (Show More)
Study Datasets 1 dataset.
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Dataset ID | Description | Technology | Samples |
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EGAD00001004370 |
Illumina whole genome sequencing to high depth (x50) of four Tanzanian individuals. Genomic DNA derived from peripheral whole blood.
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HiSeq X Ten | 4 |
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