Plasma carnitine ester profiles in Crohn's disease and ulcerative colitis patients with different IGR2230a-1 genotypes

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6 Citations (Scopus)

Abstract

An association has been repeatedly demonstrated between inflammatory bowel disease (IBD) and the IBD5 locus in the 5q31 chromosomal region. The aim of the present study was to examine the prevalence of the IGR2230a-1 intronic nucleotide polymorphism of the slc22a5 gene (coding for the OCTN2 carnitine transporter protein) lying within this region, and its possible relationship with the carnitine metabolism in Hungarian IBD patients and controls. We genotyped by restriction fragment length polymorphism 200 Crohn's disease (CD) and 246 ulcerative colitis (UC) patients, as well as 187 healthy controls. From plasma samples we determined detailed carnitine ester profiles of 76 CD, 43 UC patients and 45 control persons using electrospray ionization triple quadruple tandem mass spectrometry. The distribution of the genotypes was not significantly different in the CD or the UC group compared with the controls. We found no significant alterations of the carnitine profile in the carrier/ non-carrier or the homozygote/non-homozygote comparisons in both the CD and the UC groups, stratified by IGR2230a-1 genotype. Our data suggest that this polymorphism alone is not associated with CD and UC in the Hungarian population, and has no effect on the carnitine metabolism.

Original languageEnglish
Pages (from-to)329-335
Number of pages7
JournalInternational Journal of Immunogenetics
Volume36
Issue number6
DOIs
Publication statusPublished - Dec 2009

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Carnitine
Ulcerative Colitis
Crohn Disease
Esters
Genotype
Inflammatory Bowel Diseases
Homozygote
Tandem Mass Spectrometry
Restriction Fragment Length Polymorphisms
Nucleotides
Population
Genes
Proteins

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Immunology
  • Genetics(clinical)

Cite this

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title = "Plasma carnitine ester profiles in Crohn's disease and ulcerative colitis patients with different IGR2230a-1 genotypes",
abstract = "An association has been repeatedly demonstrated between inflammatory bowel disease (IBD) and the IBD5 locus in the 5q31 chromosomal region. The aim of the present study was to examine the prevalence of the IGR2230a-1 intronic nucleotide polymorphism of the slc22a5 gene (coding for the OCTN2 carnitine transporter protein) lying within this region, and its possible relationship with the carnitine metabolism in Hungarian IBD patients and controls. We genotyped by restriction fragment length polymorphism 200 Crohn's disease (CD) and 246 ulcerative colitis (UC) patients, as well as 187 healthy controls. From plasma samples we determined detailed carnitine ester profiles of 76 CD, 43 UC patients and 45 control persons using electrospray ionization triple quadruple tandem mass spectrometry. The distribution of the genotypes was not significantly different in the CD or the UC group compared with the controls. We found no significant alterations of the carnitine profile in the carrier/ non-carrier or the homozygote/non-homozygote comparisons in both the CD and the UC groups, stratified by IGR2230a-1 genotype. Our data suggest that this polymorphism alone is not associated with CD and UC in the Hungarian population, and has no effect on the carnitine metabolism.",
author = "G. Tali{\'a}n and L. Lakner and J. Bene and K. Koml{\'o}si and K. Horv{\'a}th and B. Gasztonyi and P. Miheller and M. Figler and G. M{\'o}zsik and Z. Tulassay and B. Melegh",
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AU - Lakner, L.

AU - Bene, J.

AU - Komlósi, K.

AU - Horváth, K.

AU - Gasztonyi, B.

AU - Miheller, P.

AU - Figler, M.

AU - Mózsik, G.

AU - Tulassay, Z.

AU - Melegh, B.

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