Comparison of three methods for genotyping the UGT1A1 (TA)n repeat polymorphism

Baudhuin, Linnea M.; Highsmith, W. Edward; Skierka, Jennifer M.; Holtegaard, Leonard M.; Moore, Brenda E.; O’Kane, Dennis J.

doi:10.1016/j.clinbiochem.2007.03.007

Cited by 24 publications

(21 citation statements)

References 29 publications

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“…Genotyping was performed by TaqMan allelic discrimination (Applied Biosystems, Foster City, CA, USA) for all alleles with the exception of rs8175347, which was genotyped by fragment size-based analysis as previously described (28). In the case of six individuals with extreme RPV levels (one subject with Ͻ50 ng/ml and five subjects with Ͼ170 ng/ml), we resequenced CYP2C19, covering 1,504 bp of the promoter region; 2,970 bp of the coding region, including exon-intron boundaries; and 1,434 bp of the 3= untranslated region (3= UTR).…”

Section: Methodsmentioning

confidence: 99%

Population Pharmacokinetics and Pharmacogenetics Analysis of Rilpivirine in HIV-1-Infected Individuals

Aouri

Barceló

Guidi

et al. 2017

Antimicrob Agents Chemother

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Rilpivirine (RPV), the latest nonnucleoside reverse transcriptase inhibitor active against HIV-1, is prescribed in a standard dosage of 25 mg once a day in combination with emtricitabine (FTC) and tenofovir disoproxil fumarate (TDF). The aim of this observational study was to characterize the RPV pharmacokinetic profile, to quantify interpatient variability, and to identify potential factors that could influence drug exposure. RPV concentration data were collected from HIV-infected patients as part of routine therapeutic drug monitoring performed in our center (Laboratory of Clinical Pharmacology). A population pharmacokinetic analysis was performed with NONMEM by comparing various structural models. The influence of demographic and clinical covariates, as well as frequent genetic polymorphisms in 5 genes (CYP3A4*22, CYP3A5*3, CYP2C19*2, CYP2C19*17, UGT1A1*28, and UGT1A4*2), on RPV elimination was explored. A total of 325 plasma concentration measurements were obtained from 249 HIV-positive patients. Plasma concentrations ranged from 12 to 255 ng/ml. A one-compartment model with zero-order absorption best characterized RPV pharmacokinetics. The average RPV clearance (CL) was 11.7 liters/h, the average volume of distribution was 401 liters, and the mean absorption time was 4 h. The interinterindividual variability (IIV) for CL was estimated to be 33%. None of the available demographic or genetic covariates showed any influence on RPV pharmacokinetics, but 29% of the patients were predicted to present minimal concentrations below the recently identified target cutoff value of 50 ng/ml. The variability in RPV pharmacokinetics appears to be lower than that for most other antiretroviral drugs. However, under the standard regimen of 25 mg daily, a significant number of patients might be underdosed. It remains to be investigated whether the underexposure has an impact on the development of resistance while patients are on maintenance therapy.

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Section: Methodsmentioning

confidence: 99%

Population Pharmacokinetics and Pharmacogenetics Analysis of Rilpivirine in HIV-1-Infected Individuals

Aouri

Barceló

Guidi

et al. 2017

Antimicrob Agents Chemother

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“…Endogenous and exogenous estrogens are metabolised by phase I and phase II enzymes [3]. Phase I metabolism is catalysed by the cytochrome P450 superfamily of enzymes [4,5], while phase II metabolism includes glucuronidation, sulfonidation, and O-methylation, which are catalysed by UDP-glucuronosyltransferases (UGTs), sulfotransferases (SULTs) and catechol-O-methyltransferase (COMT), respectively [6].…”

Section: Introductionmentioning

confidence: 99%

Evaluation ofUGT1A1andSULT1A1polymorphisms with lipid levels in women with different hormonal status

Smiderle

Galvão²,

Fontana

et al. 2010

Gynecological Endocrinology

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“…A subsequent study supported these earlier findings, comparing sequencing, the Invader in vitro device (IVD), and PCR/capillary electrophoresis. 29 A three-center study of assay reproducibility for the Invader IVD test is available as part of the FDA summary, and reported an overall correct call rate of 98.8%. 24 Estimates of first run failure rates in UGT1A1*1 and *28 were 5.0% for sequencing, 1.7% for PCR/capillary electrophoresis, 29 and 6.7% for an Invader research use only assay 26 ; all were resolved on repeat testing.…”

Section: Analytic Validitymentioning

confidence: 99%

“…29 A three-center study of assay reproducibility for the Invader IVD test is available as part of the FDA summary, and reported an overall correct call rate of 98.8%. 24 Estimates of first run failure rates in UGT1A1*1 and *28 were 5.0% for sequencing, 1.7% for PCR/capillary electrophoresis, 29 and 6.7% for an Invader research use only assay 26 ; all were resolved on repeat testing. The Invader IVD test had initial failure rate of 5.4% (95% CI 4.1-7.1%), most resolved by retesting, 24 but a more recent study reported the Invader test failed on first and second runs in 7.6% of samples (95% CI 3.5-13.9%).…”

Section: Analytic Validitymentioning

confidence: 99%

“…The Invader IVD test had initial failure rate of 5.4% (95% CI 4.1-7.1%), most resolved by retesting, 24 but a more recent study reported the Invader test failed on first and second runs in 7.6% of samples (95% CI 3.5-13.9%). 29 An external proficiency testing program is available through the College of American Pathologists Pharmacogenetics Survey, cosponsored by College of American Pathologists and the American College of Medical Genetics. 30 …”

Section: Analytic Validitymentioning

confidence: 99%

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Recommendations from the EGAPP Working Group: can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan?

Berg

Armstrong

Botkin

et al. 2009

Genetics in Medicine

102

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Comparison of three methods for genotyping the UGT1A1 (TA)n repeat polymorphism

Cited by 24 publications

References 29 publications

Population Pharmacokinetics and Pharmacogenetics Analysis of Rilpivirine in HIV-1-Infected Individuals

Population Pharmacokinetics and Pharmacogenetics Analysis of Rilpivirine in HIV-1-Infected Individuals

Evaluation ofUGT1A1andSULT1A1polymorphisms with lipid levels in women with different hormonal status

Recommendations from the EGAPP Working Group: can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan?

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