Thomas Pincez: Estimating the Effect of Fetal Hemoglobin on Sickle Cell Trait Using Polygenic Scores
Thomas Pincez, Adjunct Professor at McGill University, Assistant Professor at University of Montreal, Clinician-Scientist at Azrieli Research Centre of CHU Sainte-Justine, shared a post on LinkedIn about a recent article he and his colleagues co-authored, published in Blood RCI, adding:
“Fetal hemoglobin (HbF) is a major modifier of sickle cell disease.
Even small changes in HbF levels driven by common variants can affect sickle cell disease outcomes.
But what about sickle cell trait? Studying HbF effect on sickle cell trait complications is challenging, as HbF is not routinely measured.
To overcome this obstacle, we leveraged polygenic scores to estimate HbF levels in two cohorts.
We consistently found no association between HbF levels and the main complications of sickle cell trait: chronic kidney disease and venous thromboembolism.
These results suggest that common variations affecting HbF levels are not significant modifiers of sickle cell trait outcomes in the majority of individuals.
However, we have not investigated the potential impact of rare genetic mutations that cause extremely high HbF levels.”
Title: Estimating the effect of fetal hemoglobin on sickle cell trait using polygenic scores
Authors: Elias Hanna, Estelle Lecluze, Elisha Chacowry, Guillaume Lettre, Manon Saby, Thomas Pincez
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