Therapeutic regimens in interstitial lung disease guided by genetic screening: fact or fiction?

Bakker, J.; Bierau, Jörgen; Drent, Marjolein

doi:10.1183/09031936.00110207

Cited by 7 publications

(5 citation statements)

References 16 publications

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“…When mice were treated with 6-mercaptopurine, significant alterations were observed in the expression of genes associated with abnormal lipid metabolism, inflammatory responses, oxidative stress, ATP depletion, and cell death [41]. Although several cases of azathioprine induced ILD are known, so far, in only one case TPMT deficiency has been associated with pulmonary toxicity [14,42].…”

Section: Thiopurine S-methyltransferasementioning

confidence: 99%

“…In case of an azathioprine indication, also used as treatment for certain ILDs, testing TPMT variants involved in azathioprine metabolism is advised before starting treatment [42][43][44]. In the Unites States of America, drug labels for azathioprine now include information on TPMT polymorphisms and recommend determining patients' phenotype or genotype prior to drug treatment [45].…”

Section: Thiopurine S-methyltransferasementioning

confidence: 99%

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Drug-induced interstitial lung disease

Jessurun

Drent

Puijenbroek

et al. 2019

Current Opinion in Pulmonary Medicine

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Section: Thiopurine S-methyltransferasementioning

confidence: 99%

Section: Thiopurine S-methyltransferasementioning

confidence: 99%

Drug-induced interstitial lung disease

Jessurun

Drent

Puijenbroek

et al. 2019

Current Opinion in Pulmonary Medicine

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“…Few data exist regarding myostatin in COPD, but a recent crosssectional study showed a three-fold increase in vastus lateralis myostatin mRNA transcripts in COPD patients with significant quadriceps weakness compared to healthy controls [3]. However, the relationship between quadriceps myostatin expression and functional characteristics of the muscle is not known.…”

Section: To the Editorsmentioning

confidence: 97%

“…Aberrant enzyme activity of either TPMT or ITPase gives rise to a broad spectrum of adverse drug reactions (ADR) associated with thiopurines, ranging from therapeutic failure to life-threatening leukopenia [3,4].…”

Section: To the Editorsmentioning

confidence: 99%

A role forITPAvariants in the clinical course of pulmonary Langerhans' cell histiocytosis?

Bakker¹,

Bierau²,

Drent

2010

Eur Respir J

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“…The promise of pharmacogenetics lies in its potential to identify the right drug and dose for each patient. Even though individual differences in drug response can result from the effects of age, sex, disease or drug interactions, genetic factors also influence both the efficacy of a drug and the likelihood of an adverse reaction occurring [1][2][3]. There is an increasing number of examples in which pharmacogenetic studies have indicated that a genetic test prior to treatment may be useful either for setting the individual dose or making a decision to use a particular drug [4][5][6].…”

mentioning

confidence: 99%

Pharmacogenetic testing after a simPle Dna isolation methoD

Wijnen¹,

Bekers²,

Dieijen-Visser³

et al. 2010

BCCM

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Реферат. Существует несколько коммерческих наборов для выделения ДНК, пригодных для экстракции геном-ной ДНК из образцов цельной крови, но эта процедура требует определенных затрат времени, ручной работы и довольно дорога. Альтернативной техникой мог бы быть метод исследования сухого пятна крови (СПК), который позволяет быстрее выделять ДНК, более дешевый и простой. Мы разработали некоммерческий метод сухого пятна крови и оценили достаточны ли качество и количество ДНК, выделенной из СПК и неинвазивно получаемого мазка со щеки. Изоляты ДНК, полученные из образцов крови с этилендиаминтетрауксусной кислотой и пятен крови на фильтровальной бумаге, были сопоставлены после выделения ДНК посредством колонки и двумя альтернатив-ными методами. Образцы крови были получены посредством трения стерильным сухим хлопковым тампоном по внутренней поверхности щеки испытуемого. Кроме того, было измерено качество выделенной ДНК, полученной разными методами, проведен анализ кривых плавления 5 цитохромов P450 и 3 АТФ-связанных кассетных поли-морфизмов посредством полимеразной цепной реакции (ПЦР) в реальном времени. Во всех случаях результаты генотипирования были полными. Более того, производные кривых плавления образцов ДНК из капиллярной крови и альтернативных образцов были сопоставимы и высоковоспроизводимы. Средние измеренные концентрации ДНК составили 16,0 нг/мкл (12,6-19,4 нг/мкл) и 70,2 нг/мкл (57,3-83,1 нг/мкл) соответственно для сухого пятна и образца со щеки (p<0,001). Выделение ДНК методом СПК является альтернативным существующим коммерческим наборам для выделения ДНК и более простым методом для установления различий по генотипам. Метод расши-ряет возможности быстрого и простого выделения ДНК. В частности, неинвазивный метод получения материала со щеки может стать хорошей альтернативой инвазивному пути получения образцов. Ключевые слова: метод исследования сухого пятна крови и образца со щеки, ДНК, генотипирование. Pharmacogenetic testing after a simPle Dna isolation methoD P. Wijnen, O. Bekers, M. van Dieijen-visser, M. DrentAbstract. Several commercial DNA isolation kits are available for extracting genomic DNA from whole blood samples, but these procedures require certain consumption of hand and work time and are rather expensive. An alternative technique could be dried blood spot (DBS) sampling, with which DNA isolation is faster, cheaper and logistics are easier. We have developed a non-commercial DBS method and examined whether the quality and quantity of DNA, isolated from DBS and noninvasively obtained buccal swab (BS) samples, was satisfactory. DNA isolation from EDTA blood samples and blood spots on filter paper were compared after DNA isolation with a column method and two different DBS methods. BS samples were obtained by rubbing a sterile, dry cotton swab against the inside of the subject's cheek. In addition, the quantity of the obtained DNA was measured and melting curve analyses of 5 cytochrome P450 and 3 ATP-binding cassette polymorphisms were performed with real-time PCR FRET assays to establish the qual...

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Therapeutic regimens in interstitial lung disease guided by genetic screening: fact or fiction?

Cited by 7 publications

References 16 publications

Drug-induced interstitial lung disease

Drug-induced interstitial lung disease

A role forITPAvariants in the clinical course of pulmonary Langerhans' cell histiocytosis?

Pharmacogenetic testing after a simPle Dna isolation methoD

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