title: No influence of SLC22A4 C6607T and RUNX1 G24658C genotypic variants on the circulating carnitine ester profile in patients with rheumatoid arthritis.
abstract: OBJECTIVE
  In a Japanese study, the C6607T SNP mapping to intron 1 of the SLC22A4 gene encoding the OCTN1 protein was found to be associated with rheumatoid arthritis. Similarly, a G24658C transversion in intron 6 of the gene encoding the RUNX1 transcription factor that regulates OCTN1 and also likely OCTN2 expression was also found to confer susceptibility to the disease.
  
  
  METHODS
  We investigated the prevalence of these two SNPs by RFLP analysis in a cohort of 209 Hungarian rheumatoid arthritis patients, and 217 healthy controls. Since both the OCTN1 and OCTN2 play a central role in the transmembrane transport of carnitine, we also determined the quantitative serum carnitine ester profile by ESI tandem mass spectrometry.
  
  
  RESULTS
  No statistically significant differences were found comparing the genotype prevalence rates between the patients and the controls for either the SLC22A4 genotypes or for the RUNX1 SNPs. There was no significant difference in the serum carnitine ester profile when the rheumatoid arthritis patients were compared with the controls; furthermore, no significant difference in the carnitine esters could be detected when genotype specific subgroups of the patients and the controls were studied.
  
  
  CONCLUSIONS
  Data of the current study do not confirm the universal and population independent susceptibility role of the SLC22A4 C6607T and RUNX1 G24658C variants for rheumatoid arthritis; furthermore, the data presented here show, that there are no significant carnitine-metabolism associated functional consequences of the different genotypes evidenced by the lack of detectable differences in the carnitine ester profiles.
authors.affiliation: Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary.
authors.forename: K
authors.initials: K
authors.lastname: Komlósi
authors.forename: G C
authors.initials: GC
authors.lastname: Talián
authors.forename: B
authors.initials: B
authors.lastname: Faragó
authors.forename: L
authors.initials: L
authors.lastname: Magyari
authors.forename: V
authors.initials: V
authors.lastname: Cserép
authors.forename: B
authors.initials: B
authors.lastname: Kovács
authors.forename: J
authors.initials: J
authors.lastname: Bene
authors.forename: V
authors.initials: V
authors.lastname: Havasi
authors.forename: C G
authors.initials: CG
authors.lastname: Kiss
authors.forename: L
authors.initials: L
authors.lastname: Czirják
authors.forename: B
authors.initials: B
authors.lastname: Melegh
mesh_terms: D001172:Arthritis, Rheumatoid / Q000097:blood* / Q000235:genetics*; D002331:Carnitine / Q000097:blood*; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D027701:Organic Cation Transport Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D000074058:Solute Carrier Family 22 Member 5; D027981:Symporters; D014157:Transcription Factors / Q000235:genetics
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D027701:Organic Cation Transport Proteins; C493728:RUNX1 protein, human; C109807:SLC22A4 protein, human; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D027981:Symporters; D014157:Transcription Factors; D002331:Carnitine