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http://purl.uniprot.org/citations/25880856http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
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Objectives

Clinical manifestations of sickle cell disease (SCD) result from sickling of Hb S due to oxidation, which is augmented by accumulation of oxygen-free radicals. Deficiencies in normal antioxidant protective mechanism might lead to clinical manifestations of SCD like vaso-occlusive crisis (VOC) and acute chest syndrome (ACS). The glutathione system plays an important role in the removal of endogenous products of peroxidation of lipids, thus protecting cells and tissue against damage from oxidative stress. Impairment of the glutathione system due to genetic polymorphisms of glutathione S-transferase (GST) genes is expected to increase the severity of SCD manifestations. This report describes a case control study aimed at studying the ethnic-dependent variation in the frequency of GST gene polymorphisms among participants selected from the Egyptian population and to find out the association between GST gene polymorphisms and the severity of SCD manifestations.

Methods

We measured the frequency distribution of the three GSTs gene polymorphisms in 100 Egyptian adult SCD patients and 80 corresponding controls. GSTM1 and GSTT1 genotypes were determined by multiplex polymerase chain reaction (PCR). GSTP1 genotyping was conducted with a PCR-restriction fragment length polymorphism assay.

Results

The GSTM1 null genotype was significantly associated with ACS and VOC (P = 0.03 and 0.01, respectively). The GSTT1 null genotype was associated with significantly increased requirement of blood transfusion (P = 0.01). Absence of both GSTM1 and GSTT1 genes was significantly associated with pulmonary hypertension (P = 0.04). The non-wild-type GSTP1 polymorphism was not associated with clinical manifestations of SCD.

Discussion

Some GST gene polymorphisms were significantly associated with the worsening of the clinical manifestations of SCD."xsd:string
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http://purl.uniprot.org/citations/25880856http://purl.uniprot.org/core/author"Ellithy H.N."xsd:string
http://purl.uniprot.org/citations/25880856http://purl.uniprot.org/core/author"Shahin G.H."xsd:string
http://purl.uniprot.org/citations/25880856http://purl.uniprot.org/core/author"Yousri S."xsd:string
http://purl.uniprot.org/citations/25880856http://purl.uniprot.org/core/date"2015"xsd:gYear
http://purl.uniprot.org/citations/25880856http://purl.uniprot.org/core/name"Hematology"xsd:string
http://purl.uniprot.org/citations/25880856http://purl.uniprot.org/core/pages"598-606"xsd:string
http://purl.uniprot.org/citations/25880856http://purl.uniprot.org/core/title"Relation between glutathione S-transferase genes (GSTM1, GSTT1, and GSTP1) polymorphisms and clinical manifestations of sickle cell disease in Egyptian patients."xsd:string
http://purl.uniprot.org/citations/25880856http://purl.uniprot.org/core/volume"20"xsd:string
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