Modification of gene expression: Help to detect doping with erythropoiesis‐stimulating agents

Varlet‐Marie, Emmanuelle; Audran, Michel; Ashenden, Michael; Sicart, Marie-Thérèse; Piquemal, David

doi:10.1002/ajh.21525

Cited by 24 publications

(22 citation statements)

References 24 publications

(3 reference statements)

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“…), 0.77% for cells cultured in vitro (cluster IV), and 0.83% for nontumorous disease tissue and cells (cluster D). In the pool of the assessed SAGE catalogues, it ranged from 0.08% (total blood, GSM389907 [21]) to 4.36% of the total gene expression (bronchial epithelium, GSM125353 [22]). Of 492 human SAGE catalogues tested, the cumulative expression of the imprinted genes constituted >2% of the total gene expression in 21 and <0.2% in 7 catalogues.…”

Section: Resultsmentioning

confidence: 99%

A Prevalence of Imprinted Genes within the Total Transcriptomes of Human Tissues and Cells

Anisimov

2012

Molecular Biology International

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Genomic imprinting is an epigenetic phenomenon that causes a differential expression of paternally and maternally inherited alleles of a subset of genes (the so-called imprinted genes). Imprinted genes are distributed throughout the genome and it is predicted that about 1% of the human genes may be imprinted. It is recognized that the allelic expression of imprinted genes varies between tissues and developmental stages. The current study represents the first attempt to estimate a prevalence of imprinted genes within the total human transcriptome. In silico analysis of the normalized expression profiles of a comprehensive panel of 173 established and candidate human imprinted genes was performed, in 492 publicly available SAGE libraries. The latter represent human cell and tissue samples in a variety of physiological and pathological conditions. Variations in the prevalence of imprinted genes within the total transcriptomes (ranging from 0.08% to 4.36%) and expression profiles of the individual imprinted genes are assessed. This paper thus provides a useful reference on the size of the imprinted transcriptome and expression of the individual imprinted genes.

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Section: Resultsmentioning

confidence: 99%

A Prevalence of Imprinted Genes within the Total Transcriptomes of Human Tissues and Cells

Anisimov

2012

Molecular Biology International

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“…Interestingly, five genes remained differentially expressed even when high and microdoses were taken into account together in the study by Varlet-Marie et al 36 While these results were generated using SAGE and from only a few participants, they provide some confirmatory data to support the idea that gene expression profiles may provide a more sensitive method to detect microdoses of rHumanEPO, especially when the whole genome is interrogated. Therefore, a second study was funded by WADA and designed to use the genes significantly altered using a fairly high regimen of rHumanEPO injections discovered in the first study as primary detection candidates of microdosing with rHumanEPO.…”

Section: Introductionmentioning

confidence: 84%

“…Therefore, if the gene expression profile following rHumanEPO administration yields a specific gene expression signature, this could lead to the development of new methods with potentially improved discriminatory power relative to current detection protocols. Some initial support for this hypothesis emerged in a WADA funded study by Varlet-Marie et al 36. Using the serial analysis of gene expression (SAGE) method, Varlet-Marie et al identified 95 genes whose differential expression was subsequently tested by quantitative real-time PCR in two athletes.…”

Section: Introductionmentioning

confidence: 99%

An integrative ‘Omics’ solution to the detection of recombinant human erythropoietin and blood doping

2014

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Administration of recombinant human erythropoietin (rHumanEPO) improves sporting performance and hence is frequently subject to abuse by athletes, although rHumanEPO is prohibited by the WADA. Approaches to detect rHumanEPO doping have improved significantly in recent years but remain imperfect. A new transcriptomic-based longitudinal screening approach is being developed that has the potential to improve the analytical performance of current detection methods. In particular, studies are being funded by WADA to identify a 'molecular signature' of rHumanEPO doping and preliminary results are promising. In the first systematic study to be conducted, the expression of hundreds of genes were found to be altered by rHumanEPO with numerous gene transcripts being differentially expressed after the first injection and further transcripts profoundly upregulated during and subsequently downregulated up to 4 weeks postadministration of the drug; with the same transcriptomic pattern observed in all participants. The identification of a blood 'molecular signature' of rHumanEPO administration is the strongest evidence to date that gene biomarkers have the potential to substantially improve the analytical performance of current antidoping methods such as the Athlete Biological Passport for rHumanEPO detection. Given the early promise of transcriptomics, research using an 'omics'-based approach involving genomics, transcriptomics, proteomics and metabolomics should be intensified in order to achieve improved detection of rHumanEPO and other doping substances and methods difficult to detect such a recombinant human growth hormone and blood transfusions.

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“…Among several isoforms of UDPglucuronosyltransferase few are well known, viz.UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10, UGT2B7, UGT2B15 [21]. The UGT1A and UGT2B are responsible for glucuronidation of deferiprone [22]. Two variants,-2152 C>T and -275 T>A in the promoter of UGT1A9 gene are associated with the increased expression of UGT IA9.…”

Section: Deferipronementioning

confidence: 99%

Pharmacogenomics of the Drugs used for the Treatment of Thalassemia

Panja¹,

Basu

2015

J Cytol Histol

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Thalassemia is one of the most prevalent inherited blood disorders all over the world. There are some specific hematologic tests and molecular genetic techniques known for diagnosis of thalassemia. Nowadays, various types of drugs are used for the treatment of thalassemia. Hydroxyurea, Hydroxycarbamide, Deferiprone, Deferisirox, Butyrate and its derivatives are some of the most common and well known drugs which are used for increasing the HbF percentage and iron chelation. Pharmacogenomics is the branch of pharmacology that is associated with the influence of genetic variations on the drug response among patients by correlating genetic variations, expression pattern or single-nucleotide polymorphisms with a drug's efficacy or toxicity. With the help of Pharmacogenomics study "personalized medicine" has been explored, in which drugs and drug combinations are optimized for the genetic makeup of each individual.

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Modification of gene expression: Help to detect doping with erythropoiesis‐stimulating agents

Cited by 24 publications

References 24 publications

A Prevalence of Imprinted Genes within the Total Transcriptomes of Human Tissues and Cells

A Prevalence of Imprinted Genes within the Total Transcriptomes of Human Tissues and Cells

An integrative ‘Omics’ solution to the detection of recombinant human erythropoietin and blood doping

Pharmacogenomics of the Drugs used for the Treatment of Thalassemia

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