Abstract
Variations in the IBD5 locus confer the risk of inflammatory bowel disease in a Manitoban Caucasian Cohort
Highlights
Crohns disease (CD) and ulcerative colitis (UC) are the main manifestations of inflammatory bowel disease (IBD)
The IBD5 genomic region contains immune related genes: interleukin-4 (IL4), IL13, IL5 and interferon regulatory factor-1 (IRF1), but it contains two organic cation/carnitine transporters SLC22A4 and SLC22A5. It was suggested by Peltekova et al [4] that the non-synonymous single nucleotide polymorphism (SNP) rs1050152, located in SLC22A4 exon 9, and the single nucleotide polymorphisms (SNPs) rs2631367, located in the SLC22A5 5 ́UTR, were true functional polymorphisms determining CD risk in the IBD5 locus in a haplotype-independent manner
Two SNPs in the SLC22A5 gene associated with the risk of CD, and as a likely consequence several haplotypes inferred of these SNPs associated with CD (Table 3)
Summary
Crohns disease (CD) and ulcerative colitis (UC) are the main manifestations of inflammatory bowel disease (IBD). The IBD5 genomic region contains immune related genes: interleukin-4 (IL4), IL13, IL5 and interferon regulatory factor-1 (IRF1), but it contains two organic cation/carnitine transporters SLC22A4 and SLC22A5. It was suggested by Peltekova et al [4] that the non-synonymous single nucleotide polymorphism (SNP) rs1050152, located in SLC22A4 exon 9, and the SNP rs2631367, located in the SLC22A5 5 ́UTR, were true functional polymorphisms determining CD risk in the IBD5 locus in a haplotype-independent manner. Crohns disease (CD) and ulcerative colitis (UC) are two distinct manifestations of inflammatory bowel disease (IBD). Polymorphisms in the SLC22A4 and SLC22A5 genes were associated within the IBD5 locus, but their contribution to the pathology remains unclear. Disturbed carnitine transport might be involved in IBD etiology in a small percentage of individuals
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