Contribution of the IBD5 locus to Crohn's disease in the Swedish population

Objective. Recent data have controversially suggested that variants of the organic cation transport genes SLC22A4 (OCTN1) and SLC22A5 (OCTN2) are responsible for the contribution of IBD5 to disease susceptibility in Crohn's disease (CD). The objective of this study was to assess the contributio...

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Bibliographic Details
Published in:Scandinavian journal of gastroenterology 2007, Vol.42 (2), p.200-206
Main Authors: Törkvist, Leif, Noble, Colin L., Lördal, Mikael, Sjöqvist, Urban, Lindforss, Ulrik, Nimmo, Elaine R., Löfberg, Robert, Russell, Richard K., Satsangi, Jack
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Chromosomes, Human, Pair 5 - genetics
Crohn Disease - epidemiology
Crohn Disease - genetics
Crohn's disease
Female
Follow-Up Studies
Gastroenterology. Liver. Pancreas. Abdomen
Gene Frequency
Genetic Predisposition to Disease
Genetic Variation
Haplotypes
Humans
IBD5
Incidence
Linkage Disequilibrium
Male
Medical sciences
Medicin och hälsovetenskap
Middle Aged
Organic Cation Transport Proteins - genetics
Other diseases. Semiology
Risk Factors
SLC22A4
SLC22A5
Solute Carrier Family 22 Member 5
Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
Sweden - epidemiology
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Summary:Objective. Recent data have controversially suggested that variants of the organic cation transport genes SLC22A4 (OCTN1) and SLC22A5 (OCTN2) are responsible for the contribution of IBD5 to disease susceptibility in Crohn's disease (CD). The objective of this study was to assess the contribution of the SLC22A4 variant (1672C→T) and SLC22A5 variant (−207G→C) together with three IBD5 haplotype markers in the previously uninvestigated Swedish CD population. Material and methods. The study comprised 178 CD patients and 143 healthy controls (HC). Genotyping for IBD5 single nucleotide polymorphisms (SNPs) IGR2096a_1, IGR2198a_1, IGR2230a_1, SLC22A4 1672C→T and SLC22A5 −207G→C was carried out using the TaqMan® system. Associations with disease susceptibility and disease phenotype were investigated. Results. Strong linkage disequilibrium was observed between the investigated SNPs (D prime >0.92). IGR2096a_1 allelic frequency and homozygosity rates were associated with CD (44% CD versus 33.8% HC, p =0.008, OR =1.55 and 20% CD versus 12% HC, p =0.04, OR =1.93, respectively). Variant allelic frequency of SLC22A4, 1672C→T (44% versus 36%, p =0.03, OR =1.4) and homozygosity for the SLC22A4, SLC22A5 TC haplotype (1672C→T, −207G→C) (21.3% versus 12%, p =0.03, OR =1.78, population attributable risk (PAR) =11%) were associated with CD. There was no association between the allelic frequency of SLC22A5 and CD (46.6% CD versus 41.5% HC, p =0.82). The association of the TC haplotype with CD was not independent of the SNPs representing the extended IBD5 linkage interval. Conclusions. The IBD5 locus is associated with CD in the Swedish population. The strongest association is with the marker SNP IGR2096a_1, lying p-telomeric to SLC22A4 and SLC22A5. The effect of the TC haplotype was not an independent determinant in this population.
ISSN:0036-5521
1502-7708
DOI:10.1080/00365520600842278