Glutathione S-Transferase P1 *C Allelic Variant Increases Susceptibility for Late-Onset Alzheimer Disease: Association Study and Relationship with Apolipoprotein E ε4 Allele

Bernardini, Sergio; Bellincampi, Lorenza; Ballerini, Sabrina; Federici, Giorgio; Iori, Roberta; Trequattrini, Alberto; Ciappi, Fabrizio; Baldinetti, F.; Bossù, Paola; Caltagirone, Carlo; Spalletta, Gianfranco

doi:10.1373/clinchem.2004.045955

Cited by 46 publications

(35 citation statements)

References 38 publications

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“…This possibility should not be surprising, given the accumulating evidence that the risk of developing AD can be influenced by many factors (Cupples et al, 2004) including newly discovered gene-gene interactions (Borroni et al, 2004;Bernardini et al, 2005;Dunckley et al, 2005;Lambert et al, 2005;Papassotiropoulos et al, 2005) and gene-race interactions (Green et al, 2002;Gureje et al, 2006), as well as interactions with other medical (Evans et al, 2004), and lifestyle/environmental factors (Mutter et al, 2004;Bird, 2005;Salerno-Kennedy and Cashman, 2005), all of which contribute to disease pathogenesis in poorly understood ways. More work is needed to understand the factors in family history that confer AD risk and their influence on brain structure and function.…”

Section: Discussionmentioning

confidence: 99%

The Influence of Alzheimer Disease Family History and Apolipoprotein E ε4 on Mesial Temporal Lobe Activation

Johnson¹,

Schmitz²,

Trivedi³

et al. 2006

J. Neurosci.

142

152

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First-degree family history of sporadic Alzheimer disease (AD) and the apolipoprotein E 4 (APOE4) are risk factors for developing AD. Although the role of APOE4 in AD pathogenesis has been well studied, family history remains a rarely studied and poorly understood risk factor. Both putatively cause early brain changes before symptomatic disease, but the relative contribution of each to brain function is unknown. We examined 68 middle-aged participants with a parent diagnosed with AD [family history (ϩFH)] and 64 age-and educationmatched controls without a first-degree family history of any dementia [no family history (ϪFH)]. All underwent cognitive testing, APOE genotyping, and a functional magnetic resonance imaging encoding task that required discrimination of novel items from previously learned items. A 2 ϫ 2 factorial ANOVA (presence/absence of parental family history and presence/absence of the APOE4) was used to detect group effects. A greater response to novel items was detected in the mesial temporal lobe and fusiform gyrus bilaterally among persons without a first-degree family history of AD. In hippocampal areas, the ϪFH ϩ4 group exhibited the greatest signal change, and the ϩFH ϩ4 group exhibited the least. These findings indicate that FH of AD is an important predictor of hippocampal activation during encoding and that FH may modulate the effect of APOE4 in these middle-aged adults, suggesting that an as yet unspecified factor embodied in first-degree family history of AD is influencing the expression of APOE4 on brain function.

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Section: Discussionmentioning

confidence: 99%

The Influence of Alzheimer Disease Family History and Apolipoprotein E ε4 on Mesial Temporal Lobe Activation

Johnson¹,

Schmitz²,

Trivedi³

et al. 2006

J. Neurosci.

142

152

View full text Add to dashboard Cite

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“…Purification of DNA samples from peripheral blood samples and genotyping of GSTA1, GSTP1, GSTM1 and GSTT1 genes were performed as previously described (Bernardini et al, 2005;Gaziev et al, 2010).…”

Section: Methodsmentioning

confidence: 99%

Genetic polymorphisms of glutathione S-transferases GSTM1, GSTT1, GSTP1 and GSTA1 as risk factors for schizophrenia

Gravina

Spoletini

Masini

et al. 2011

Psychiatry Research

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Oxidative damage is thought to play a role in the predisposition to schizophrenia. We determined if the polymorphisms of the GSTP1, GSTM1, GSTT1 and GSTA1 genes, which affect the activity of these enzymes against oxidative stress, have a role as susceptibility genes for schizophrenia, analyzing 138 schizophrenic patients and 133 healthy controls. We found that the combination of the absence of GSTM1 gene with the of the GSTM1 gene with the polymorphism GSTA1*B/*B, and the presence of the GSTT1 gene, represents a risk factor for schizophrenia, indicating that the combination of different GST polymorphisms has a role in the predisposition to schizophrenia, probably affecting the capacity of the cell to detoxify the oxidized metabolites of catecholamines.

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“…Genotyping of GSTP1, GSTM1, and GSTT1 genes was performed as previously described. 30 GSTA1 was sequenced as follows: 100 ng of genomic DNA was amplified in 20 L containing polymerase buffer, 1.5mM MgCl 2 , 0.25mM deoxyribonucleoside triphosphates, 0.25M primer sense (5Ј-CCCTACATGGTATAGGTGAAAT-3Ј) and antisense (5Ј-GTGCTAAGGACACATATTAGC-3Ј) and 1.5 U of Taq polymerase. Polymerase chain reaction (PCR) conditions were: 95°C for 10 minutes, (96°C for 30 seconds, 53°C for 30 seconds, 72°C for 1 minute 30 seconds) for 35 cycles, and lastly 72°C for 10 minutes; 20 ng of PCR products, purified with the Agencourt AMPure PCR Purification kit (Agencourt Bioscience Corporation), was sequenced in 10 L of reaction solution containing sequencing buffer, 0.5 pmol of reverse primer, and ABI PRISM BigDye Terminator, Version 3.1 Ready Reaction Cycle Sequencing Kit (Applied Biosystems).…”

Section: Gst Genotype Determinationmentioning

confidence: 99%

Novel pharmacokinetic behavior of intravenous busulfan in children with thalassemia undergoing hematopoietic stem cell transplantation: a prospective evaluation of pharmacokinetic and pharmacodynamic profile with therapeutic drug monitoring

Gaziev

Nguyen

Puozzo

et al. 2010

Blood

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102

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We prospectively studied the pharmacokinetics (PK) and clinical outcomes of intravenous busulfan (Bu) in 71 children with preexisting liver damage who underwent hematopoietic stem cell transplantation for thalassemia. Intravenous Bu was administered every 6 hours as part of a conditioning regimen with PK-based dose adjustment to target a conservative area under the concentration-versus-time curve (AUC) range (900-1350 Mol*min). The first-dose Bu clearance (CL) was significantly higher than the subsequent daily CL that remained unchanged in the ensuing days. One-third of patients required dose escalation based on dose 1 AUC, whereas dose reduction was needed in the subsequent days. At doses 5, 9, and 13, 78%, 81%, and 87% of patients, respectively, achieved the target range of AUC. A population PK analysis confirmed that the first-dose CL was 20% higher and that body weight was the most important covariate to explain PK variability. Patients with variant GSTA1*B had a 10% lower Bu CL than wild-type. These results suggest that the disease-specific behavior of intravenous Bu PK should be considered for PK-guided dose adjustment in patients with thalassemia, and the use of a conservative AUC range resulted in low toxicity, good engraftment, and good survival rate. (Blood. 2010;115(22):4597-4604)

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Glutathione S-Transferase P1 *C Allelic Variant Increases Susceptibility for Late-Onset Alzheimer Disease: Association Study and Relationship with Apolipoprotein E ε4 Allele

Cited by 46 publications

References 38 publications

The Influence of Alzheimer Disease Family History and Apolipoprotein E ε4 on Mesial Temporal Lobe Activation

The Influence of Alzheimer Disease Family History and Apolipoprotein E ε4 on Mesial Temporal Lobe Activation

Genetic polymorphisms of glutathione S-transferases GSTM1, GSTT1, GSTP1 and GSTA1 as risk factors for schizophrenia

Novel pharmacokinetic behavior of intravenous busulfan in children with thalassemia undergoing hematopoietic stem cell transplantation: a prospective evaluation of pharmacokinetic and pharmacodynamic profile with therapeutic drug monitoring

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