title: Association of CTH variant with sinusoidal obstruction syndrome in children receiving intravenous busulfan and cyclophosphamide before hematopoietic stem cell transplantation.
abstract: Sinusoidal obstruction syndrome (SOS) is a severe complication of hematopoietic stem cell transplantation (HSCT) that can be fatal, often attributed to the conditioning regimen prior to HSCT. We evaluated the association of SOS risk with gene variants in cystathionase (CTH), an enzyme involved in glutathione synthesis, in 76 children receiving intravenous busulfan (Bu) before HSCT. Our results indicated an association with CTHc.1364 G>T (ORTT=10.6, 95% confidence interval (CI)=2.16, 51.54) and SOS risk, which was sex dependent (female patients, ORTT=21.82, 95% CI=3.590-132.649). The interaction between CTHc.1364 G>T and another risk variant (GSTA1*B) was explored. A recessive model with the use of GSTA1*B*B and CTH c.1364 TT genotypes proved to be useful at predicting SOS occurrence, indicating the possibility of using these gene variants as markers of SOS occurrence and to further individualize preemptive treatment aimed at reducing SOS incidence.
authors: Department of Pediatrics, Onco-Haematology Unit, Geneva University Hospital, Geneva, Switzerland.|CANSEARCH Research Laboratory, Department of Pediatrics, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
authors: P
authors: P
authors: Huezo-Diaz Curtis
authors: Department of Pediatrics, Onco-Haematology Unit, Geneva University Hospital, Geneva, Switzerland.|CANSEARCH Research Laboratory, Department of Pediatrics, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
authors: C R S
authors: CRS
authors: Uppugunduri
authors: UCIBIO@REQUIMTE, Departamento de Química, Faculdade de Ciências e Tecnologia, Universidade Nova de Lisboa, Caparica, Portugal.
authors: J
authors: J
authors: Muthukumaran
authors: Charles-Bruneau Cancer Center, CHU Sainte-Justine, Montreal, Quebec, Canada.
authors: M A
authors: MA
authors: Rezgui
authors: St Anna Children's Hospital, Vienna, Austria.
authors: C
authors: C
authors: Peters
authors: University Hospital for Children and Adolescents, Frankfurt/Main, Germany.
authors: P
authors: P
authors: Bader
authors: Charles-Bruneau Cancer Center, CHU Sainte-Justine, Montreal, Quebec, Canada.|Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.
authors: M
authors: M
authors: Duval
authors: Charles-Bruneau Cancer Center, CHU Sainte-Justine, Montreal, Quebec, Canada.|Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.
authors: H
authors: H
authors: Bittencourt
authors: Charles-Bruneau Cancer Center, CHU Sainte-Justine, Montreal, Quebec, Canada.|Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.|Department of Pharmacology, Faculty of Medicine, University of Montreal, Montreal, Quebec, Canada.
authors: Maja
authors: M
authors: Krajinovic
authors: Department of Pediatrics, Onco-Haematology Unit, Geneva University Hospital, Geneva, Switzerland.|CANSEARCH Research Laboratory, Department of Pediatrics, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
authors: Marc
authors: M
authors: Ansari
mesh_terms: D061605:Administration, Intravenous / Q000379:methods; D000293:Adolescent; D000328:Adult; D002066:Busulfan / Q000008:administration & dosage*; D002648:Child; D002675:Child, Preschool; D003520:Cyclophosphamide / Q000008:administration & dosage*; D003542:Cystathionine gamma-Lyase / Q000235:genetics*; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D005978:Glutathione / Q000235:genetics*; D005982:Glutathione Transferase / Q000235:genetics; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods; D006504:Hepatic Veno-Occlusive Disease / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D055815:Young Adult
chemical_list: D003520:Cyclophosphamide; D005982:Glutathione Transferase; D003542:Cystathionine gamma-Lyase; D002066:Busulfan; D005978:Glutathione