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.
authors.affiliation: Department of Medical Genetics and Child Development, University of Pécs, H-7624 Pécs, Hungary.
authors.forename: G
authors.initials: G
authors.lastname: Talián
authors.forename: L
authors.initials: L
authors.lastname: Lakner
authors.forename: J
authors.initials: J
authors.lastname: Bene
authors.forename: K
authors.initials: K
authors.lastname: Komlósi
authors.forename: K
authors.initials: K
authors.lastname: Horváth
authors.forename: B
authors.initials: B
authors.lastname: Gasztonyi
authors.forename: P
authors.initials: P
authors.lastname: Miheller
authors.forename: M
authors.initials: M
authors.lastname: Figler
authors.forename: G
authors.initials: G
authors.lastname: Mózsik
authors.forename: Z
authors.initials: Z
authors.lastname: Tulassay
authors.forename: B
authors.initials: B
authors.lastname: Melegh
mesh_terms: D000328:Adult; D002331:Carnitine / Q000097:blood*; D016022:Case-Control Studies; D003093:Colitis, Ulcerative / Q000097:blood* / Q000235:genetics*; D003424:Crohn Disease / Q000097:blood* / Q000235:genetics*; D004952:Esters / Q000097:blood*; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D027701:Organic Cation Transport Proteins / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D000074058:Solute Carrier Family 22 Member 5; D021241:Spectrometry, Mass, Electrospray Ionization / Q000379:methods
chemical_list: D004952:Esters; D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D002331:Carnitine