What question did this study set out to answer?

To explore genetic contributors to the variability in clinical outcomes associated with sickle cell disease.

December 8, 2025Blood

Unlocking the genetics of sickle cell disease

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To explore genetic contributors to the variability in clinical outcomes associated with sickle cell disease.
Analyzed data from the REDS-III Brazil SCD cohort with 2,793 participants.
Conducted genome-wide association studies using SNP typing and whole-genome sequencing.
Utilized Generalized Linear Mixed Model Association Tests to evaluate associations.
Identified that only priapism reached genome-wide significance among complications studied.
Discovered novel loci associated with priapism, acute chest syndrome, and bacterial infection.
Replicated known associations with genetic variants linked to bilirubin levels and cholecystectomy.

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Genome-wide association studies uncover novel genetic markers related to complications in sickle cell disease patients.

Ozahata et al. (2025) studied this question.

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