ATP-binding cassette transporter ABCG2 (BCRP) and ABCB1 (MDR1) variants are not associated with disease susceptibility, disease phenotype response to medical therapy or need for surgeryin Hungarian patients with inflammatory bowel diseases

Fischer, Simon; Lakatos, Péter L.; Lakatos, László; Kovács, Ágota; Molnár, Tamás; Altorjay, István; Papp, Mária; Szilvási, Anikó; Tulassay, Zsolt; Osztovits, Janos; Papp, J.; Demeter, Pál; Schwab, Richárd; Tordai, Attila; Andrikovics, Hajnalka

doi:10.1080/00365520601101559

Cited by 34 publications

(16 citation statements)

References 35 publications

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“…[45], [46], [47]. In accordance with previous data in the literature [35], [36], [37], [38], [39], we detected both the monomeric and dimeric forms of ABCG2 in the red cell membrane but found that this assay is not suitable for the proper quantitation of small changes in ABCG2 expression (see Supplementary Materials).…”

Section: Methodssupporting

confidence: 88%

“…The most common SNPs in ABCG2 [V12M (c.34G>A, p.12Val>Met in exon 2, SNP database ID: rs2231137) and Q141K (c.421C>A, p.141Gln>Lys in exon 5, SNP database ID: rs2231142] were genotyped using the LightCycler480 (Roche Diagnostics, Basle, Switzerland) allelic discrimination system as described previously in detail [45]. Sanger sequencing of the ABCG2 coding region and exon-intron boundaries (exons 2–16) was performed by the Applied Biosystems 310 Genetic Analyzer (Life Technologies, Carlsbad, USA) [40].…”

Section: Methodsmentioning

confidence: 99%

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Expression Levels of the ABCG2 Multidrug Transporter in Human Erythrocytes Correspond to Pharmacologically Relevant Genetic Variations

et al. 2012

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We have developed a rapid, simple and reliable, antibody-based flow cytometry assay for the quantitative determination of membrane proteins in human erythrocytes. Our method reveals significant differences between the expression levels of the wild-type ABCG2 protein and the heterozygous Q141K polymorphic variant. Moreover, we find that nonsense mutations on one allele result in a 50% reduction in the erythrocyte expression of this protein. Since ABCG2 polymorphisms are known to modify essential pharmacokinetic parameters, uric acid metabolism and cancer drug resistance, a direct determination of the erythrocyte membrane ABCG2 protein expression may provide valuable information for assessing these conditions or for devising drug treatments. Our findings suggest that erythrocyte membrane protein levels may reflect genotype-dependent tissue expression patterns. Extension of this methodology to other disease-related or pharmacologically important membrane proteins may yield new protein biomarkers for personalized diagnostics.

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Section: Methodssupporting

confidence: 88%

Section: Methodsmentioning

confidence: 99%

Expression Levels of the ABCG2 Multidrug Transporter in Human Erythrocytes Correspond to Pharmacologically Relevant Genetic Variations

et al. 2012

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“…No difference in NOD2 allele frequency was found between smokers and non-smokers with CD,42 62–66 apart from one study with a higher proportion of smokers carrying the G908R variant than the wild-type genotype 67. Neither the matrix metalloproteinase genes48 nor the ATP binding cassette transporter genes68 showed any association between smoking and genotype in CD.…”

Section: Any Increase In Genetic Predisposition In Smokers?mentioning

confidence: 84%

The impact of smoking in Crohn's disease: no smoke without fire

Aldhous

Satsangi

2010

Frontline Gastroenterol

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Smoking habit is the most widely accepted environmental factor affecting the incidence and disease progression in the inflammatory bowel diseases. The contrasting effects in Crohn's disease (CD) and ulcerative colitis are unexplained. The purpose of this review is to summarise the existing data on the effects of smoking in CD on disease history, recurrence after surgery, effects on drug responses and to review available evidence that carriage of some of the known susceptibility genes may be disproportionate in smokers with CD. The review also highlights potential mechanisms involved and factors that might affect patients' smoking habits. The clinical and scientific implications of the data are discussed.

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“…Studies for clinical outcome and disease risk are similarly discordant [41]. As a brief example, research in drug treatment and disease risk for the related conditions of inflammatory bowel disease, Crohn’s disease, and ulcerative colitis has implicated the 893Ala allele [142], the 893Ser/Ser genotype [143], and has shown no genotypic effect with regard to rs2032582 [144,145]. …”

Section: Common Coding Snpsmentioning

confidence: 99%