Plasma carnitine ester profiles in Crohn's disease patients characterized for SLC22A4 C1672T and SLC22A5 G-207C genotypes

• Published in: British journal of nutrition Vol. 98; no. 2; pp. 345 - 350
• Main Authors: Bene, Judit, Komlósi, Katalin, Magyari, Lili, Talián, Gábor, Horváth, Krisztina, Gasztonyi, Beáta, Miheller, Pál, Figler, Mária, Mózsik, Gyula, Tulassay, Zsolt, Melegh, Béla
• Format: Journal Article
• Language: English
• Published: Cambridge, UK Cambridge University Press 01.08.2007
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Biological and medical sciences; biomarkers; blood chemistry; carnitine; Carnitine - analogs & derivatives; Carnitine - blood; Carnitine - genetics; Carnitine ester profile; Crohn disease; Crohn Disease - blood; Crohn Disease - genetics; Crohn's disease; Crohns disease; Deoxyribonucleic acid; Disease control; disease resistance; DNA; epidemiology; Esters; Esters - blood; etiology; Feeding. Feeding behavior; Female; Fundamental and applied biological sciences. Psychology; gene expression; Gene Frequency - genetics; Genes; Genetic factors; genetic polymorphism; Genetic Predisposition to Disease - genetics; genetic variance; Genotype; Genotype & phenotype; Genotypes; Histology; homeostasis; human genetics; Humans; lipid metabolism; Male; Mass spectrometry; Metabolic disorders; Middle Aged; molecular sequence data; Mutation; Nod2 Signaling Adaptor Protein - genetics; NOD2/CARD15; nucleotide sequences; OCTN1; OCTN2; Organic Cation Transport Proteins - genetics; patients; Plasma; point mutation; Proteins; quantitative traits; transporters; Vertebrates: anatomy and physiology, studies on body, several organs or systems; NOD2/CARD15; Carnitine ester profile; Crohn's disease; OCTN1; OCTN2; Human; Crohn disease; Ester; Vertebrata; Mammalia; Digestive diseases; Intestinal disease; Genotype; Carnitine ester profile: OCTN1: OCTN2: NOD2/CARD15: Crohn's disease; Inflammatory disease; Carnitine; Blood plasma
• ISSN: 0007-1145; 1475-2662
• DOI: 10.1017/S0007114507705020

Crohn's disease (CD) is a chronic inflammatory bowel disorder caused by environmental and genetic factors. The purpose of this study was to analyse the possible influence of functional variants of genes of OCTN cation transporters on the carnitine ester profile of patients with CD. Genotyping for SLC22A4 1672C → T, SLC22A5-207G → C mutations and three common NOD2 variants (R702W, G908R and 1007finsC) were performed in 100 adult CD patients and in ninety-four healthy controls by direct sequencing. The carnitine ester profile was determined using ESI triple quadrupole tandem MS. Contrary to the NOD2/CARD15 mutations, none of the SLC variants showed increased prevalence in the CD group, the prevalence of TC haplotype did not differ between the patients and the controls. In the mixed group of CD patients the fasting propionyl- (0·243 (sem 0·008) v. 0·283 (sem 0·014) μmol/l), butyryl- (0·274 (sem 0·009) v. 0·301 (sem 0·013)) and isovalerylcarnitine (0·147 (sem 0·006) v. 0·185 (sem 0·009)) levels were decreased; while the level of octenoyl- (0·086 (sem 0·006) v. 0·069 (sem 0·005)), myristoleyl- (0·048 (sem 0·003) v. 0·037 (sem 0·003)), palmitoyl- (0·140 (sem 0·005) v. 0·122 (sem 0·004)) and oleylcarnitine (0·172 (sem 0·006) v. 0·156 (sem 0·008); P < 0·05 in all comparisons) were increased. After sorting the patients into SLC22A genotype-specific subgroups, no significant differences could be observed between them. The carnitine ester profile data suggest selective involvement of the carnitine esters in CD patients, probably due to their altered metabolism.