Genetic susceptibility to hepatic sinusoidal obstruction syndrome in pediatric patients undergoing HSCT.

Biology of Blood and Marrow Transplantation(2020)

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摘要
•Sinusoidal obstruction syndrome (SOS) is a complication of hematopoietic stem cell transplantation.•Whole-exome sequencing was performed to identify the genetic contribution to SOS.•Exome-wide association study identified 8 lead signals in the discovery cohort.•Three loci (UGT2B10, BHLHE22, and KIAA1715) were validated in the replication group.•The finding can be useful for designing personalized prophylactic strategies.
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关键词
Hepatic sinusoidal obstruction syndrome,Hematopoietic stem cell transplantation,Busulfan,Genetic factors,Association study,Whole-exome sequencing
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