The 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 surgery in Hungarian patients with inflammatory bowel diseases

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Abstract

Objective. MDR1 (ABCB1), a member of the ATP-binding cassette (ABC) transporters, is an attractive candidate gene for the pathogenesis of inflammatory bowel diseases (IBD) and perhaps for response to therapy. Since limited data are available on MDR1 and ABCG2 polymorphisms in East European IBD patients, the aim of this study was to investigate ABCG2 and MDR1 variants and responses to medical therapy and/or disease phenotype in Hungarian patients. Material and methods. A total of 414 unrelated IBD patients (Crohn's disease (CD): 265, age: 35.2±12.1 years, duration: 8.7±7.6 years and ulcerative colitis (UC): 149, age: 44.4±15.4 years, duration: 10.7±8.9 years) and 149 healthy subjects were investigated. ABCG2 G34A, C421A and MDR1 C3435T, G2677T/A single nucleotide polymorphisms (SNPs) were detected using real-time polymerase chain reaction (PCR). Detailed clinical phenotypes were determined by reviewing the medical charts. Results. The frequency of the ABCG2 and MDR1 SNPs was not significantly different among IBD, CD, UC patients and controls. There was no difference in risk for steroid resistance in CD patients carrying variant ABCG2 (19.6% versus non-carriers 18.4%, p=NS) or MDR1 3435T (CC: 22.2% versus CT/TT: 17.6%) alleles. In addition, carriage of the variant allele was not associated with disease phenotype, presence of extra-intestinal manifestations, smoking, response to infliximab therapy or the need for surgery. In UC, the carriage of variant ABCG2 alleles seemed to be preventive for arthritis (15.5% versus 31.7%, OR: 0.39, 95% CI: 0.16-0.98). Conclusions. MDR1 and ABCG2 SNPs were not associated with disease susceptibility or disease phenotype in Hungarian patients, and variant alleles did not predict the response to medical therapy or the need for surgery. Further studies are needed to clarify the association between the presence of ABCG2 variants and arthritis in UC.

Original languageEnglish
Pages (from-to)726-733
Number of pages8
JournalScandinavian Journal of Gastroenterology
Volume42
Issue number6
DOIs
Publication statusPublished - 2007

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ATP-Binding Cassette Transporters
Disease Susceptibility
Inflammatory Bowel Diseases
Phenotype
Ulcerative Colitis
Alleles
Crohn Disease
Single Nucleotide Polymorphism
Arthritis
Therapeutics
Real-Time Polymerase Chain Reaction
Healthy Volunteers
Smoking
Steroids
Genes

Keywords

  • ABCG2
  • Disease phenotype
  • Genetics
  • IBD
  • MDR1
  • Steroid

ASJC Scopus subject areas

  • Gastroenterology

Cite this

@article{82132913489e42c68eaf32bd7d71c5a8,
title = "The 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 surgery in Hungarian patients with inflammatory bowel diseases",
abstract = "Objective. MDR1 (ABCB1), a member of the ATP-binding cassette (ABC) transporters, is an attractive candidate gene for the pathogenesis of inflammatory bowel diseases (IBD) and perhaps for response to therapy. Since limited data are available on MDR1 and ABCG2 polymorphisms in East European IBD patients, the aim of this study was to investigate ABCG2 and MDR1 variants and responses to medical therapy and/or disease phenotype in Hungarian patients. Material and methods. A total of 414 unrelated IBD patients (Crohn's disease (CD): 265, age: 35.2±12.1 years, duration: 8.7±7.6 years and ulcerative colitis (UC): 149, age: 44.4±15.4 years, duration: 10.7±8.9 years) and 149 healthy subjects were investigated. ABCG2 G34A, C421A and MDR1 C3435T, G2677T/A single nucleotide polymorphisms (SNPs) were detected using real-time polymerase chain reaction (PCR). Detailed clinical phenotypes were determined by reviewing the medical charts. Results. The frequency of the ABCG2 and MDR1 SNPs was not significantly different among IBD, CD, UC patients and controls. There was no difference in risk for steroid resistance in CD patients carrying variant ABCG2 (19.6{\%} versus non-carriers 18.4{\%}, p=NS) or MDR1 3435T (CC: 22.2{\%} versus CT/TT: 17.6{\%}) alleles. In addition, carriage of the variant allele was not associated with disease phenotype, presence of extra-intestinal manifestations, smoking, response to infliximab therapy or the need for surgery. In UC, the carriage of variant ABCG2 alleles seemed to be preventive for arthritis (15.5{\%} versus 31.7{\%}, OR: 0.39, 95{\%} CI: 0.16-0.98). Conclusions. MDR1 and ABCG2 SNPs were not associated with disease susceptibility or disease phenotype in Hungarian patients, and variant alleles did not predict the response to medical therapy or the need for surgery. Further studies are needed to clarify the association between the presence of ABCG2 variants and arthritis in UC.",
keywords = "ABCG2, Disease phenotype, Genetics, IBD, MDR1, Steroid",
author = "Simon Fischer and Lakatos, {Peter Laszlo} and Laszlo Lakatos and Agota Kovacs and Tamas Molnar and Istvan Altorjay and Maria Papp and Aniko Szilvasi and Zsolt Tulassay and Janos Osztovits and Janos Papp and Pal Demeter and Richard Schwab and Attila Tordai and Hajnalka Andrikovics and Peter Fuszek and Peter Vargha and Ferenc Szalay and F. Csolnoky and Zsuzsanna Erdelyi and Gabor Mester and Csaba Molnar and Tunde Pandur and Laszlo Bene and Ferenc Nagy and Janos Lonovics and Karoly Palatka and Levente Balint and Ferenc Huoranszky and Istvan Dobo and Laszlo Herszenyi and Pal Miheller and Annamaria Nemeth",
year = "2007",
doi = "10.1080/00365520601101559",
language = "English",
volume = "42",
pages = "726--733",
journal = "Scandinavian Journal of Gastroenterology",
issn = "0036-5521",
publisher = "Informa Healthcare",
number = "6",

}

TY - JOUR

T1 - The 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 surgery in Hungarian patients with inflammatory bowel diseases

AU - Fischer, Simon

AU - Lakatos, Peter Laszlo

AU - Lakatos, Laszlo

AU - Kovacs, Agota

AU - Molnar, Tamas

AU - Altorjay, Istvan

AU - Papp, Maria

AU - Szilvasi, Aniko

AU - Tulassay, Zsolt

AU - Osztovits, Janos

AU - Papp, Janos

AU - Demeter, Pal

AU - Schwab, Richard

AU - Tordai, Attila

AU - Andrikovics, Hajnalka

AU - Fuszek, Peter

AU - Vargha, Peter

AU - Szalay, Ferenc

AU - Csolnoky, F.

AU - Erdelyi, Zsuzsanna

AU - Mester, Gabor

AU - Molnar, Csaba

AU - Pandur, Tunde

AU - Bene, Laszlo

AU - Nagy, Ferenc

AU - Lonovics, Janos

AU - Palatka, Karoly

AU - Balint, Levente

AU - Huoranszky, Ferenc

AU - Dobo, Istvan

AU - Herszenyi, Laszlo

AU - Miheller, Pal

AU - Nemeth, Annamaria

PY - 2007

Y1 - 2007

N2 - Objective. MDR1 (ABCB1), a member of the ATP-binding cassette (ABC) transporters, is an attractive candidate gene for the pathogenesis of inflammatory bowel diseases (IBD) and perhaps for response to therapy. Since limited data are available on MDR1 and ABCG2 polymorphisms in East European IBD patients, the aim of this study was to investigate ABCG2 and MDR1 variants and responses to medical therapy and/or disease phenotype in Hungarian patients. Material and methods. A total of 414 unrelated IBD patients (Crohn's disease (CD): 265, age: 35.2±12.1 years, duration: 8.7±7.6 years and ulcerative colitis (UC): 149, age: 44.4±15.4 years, duration: 10.7±8.9 years) and 149 healthy subjects were investigated. ABCG2 G34A, C421A and MDR1 C3435T, G2677T/A single nucleotide polymorphisms (SNPs) were detected using real-time polymerase chain reaction (PCR). Detailed clinical phenotypes were determined by reviewing the medical charts. Results. The frequency of the ABCG2 and MDR1 SNPs was not significantly different among IBD, CD, UC patients and controls. There was no difference in risk for steroid resistance in CD patients carrying variant ABCG2 (19.6% versus non-carriers 18.4%, p=NS) or MDR1 3435T (CC: 22.2% versus CT/TT: 17.6%) alleles. In addition, carriage of the variant allele was not associated with disease phenotype, presence of extra-intestinal manifestations, smoking, response to infliximab therapy or the need for surgery. In UC, the carriage of variant ABCG2 alleles seemed to be preventive for arthritis (15.5% versus 31.7%, OR: 0.39, 95% CI: 0.16-0.98). Conclusions. MDR1 and ABCG2 SNPs were not associated with disease susceptibility or disease phenotype in Hungarian patients, and variant alleles did not predict the response to medical therapy or the need for surgery. Further studies are needed to clarify the association between the presence of ABCG2 variants and arthritis in UC.

AB - Objective. MDR1 (ABCB1), a member of the ATP-binding cassette (ABC) transporters, is an attractive candidate gene for the pathogenesis of inflammatory bowel diseases (IBD) and perhaps for response to therapy. Since limited data are available on MDR1 and ABCG2 polymorphisms in East European IBD patients, the aim of this study was to investigate ABCG2 and MDR1 variants and responses to medical therapy and/or disease phenotype in Hungarian patients. Material and methods. A total of 414 unrelated IBD patients (Crohn's disease (CD): 265, age: 35.2±12.1 years, duration: 8.7±7.6 years and ulcerative colitis (UC): 149, age: 44.4±15.4 years, duration: 10.7±8.9 years) and 149 healthy subjects were investigated. ABCG2 G34A, C421A and MDR1 C3435T, G2677T/A single nucleotide polymorphisms (SNPs) were detected using real-time polymerase chain reaction (PCR). Detailed clinical phenotypes were determined by reviewing the medical charts. Results. The frequency of the ABCG2 and MDR1 SNPs was not significantly different among IBD, CD, UC patients and controls. There was no difference in risk for steroid resistance in CD patients carrying variant ABCG2 (19.6% versus non-carriers 18.4%, p=NS) or MDR1 3435T (CC: 22.2% versus CT/TT: 17.6%) alleles. In addition, carriage of the variant allele was not associated with disease phenotype, presence of extra-intestinal manifestations, smoking, response to infliximab therapy or the need for surgery. In UC, the carriage of variant ABCG2 alleles seemed to be preventive for arthritis (15.5% versus 31.7%, OR: 0.39, 95% CI: 0.16-0.98). Conclusions. MDR1 and ABCG2 SNPs were not associated with disease susceptibility or disease phenotype in Hungarian patients, and variant alleles did not predict the response to medical therapy or the need for surgery. Further studies are needed to clarify the association between the presence of ABCG2 variants and arthritis in UC.

KW - ABCG2

KW - Disease phenotype

KW - Genetics

KW - IBD

KW - MDR1

KW - Steroid

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U2 - 10.1080/00365520601101559

DO - 10.1080/00365520601101559

M3 - Article

C2 - 17505995

AN - SCOPUS:34248583543

VL - 42

SP - 726

EP - 733

JO - Scandinavian Journal of Gastroenterology

JF - Scandinavian Journal of Gastroenterology

SN - 0036-5521

IS - 6

ER -