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. 2010 May;25(5):553-6.
doi: 10.1007/s00384-010-0874-0. Epub 2010 Feb 2.

Assessment of DNA methylation at the interferon regulatory factor 5 (IRF5) promoter region in inflammatory bowel diseases

Alfred Balasa  1 , Grace Gathungu, Peter Kisfali, E O'Brian Smith, Judy H Cho, Bela Melegh, Richard Kellermayer
Affiliations

Assessment of DNA methylation at the interferon regulatory factor 5 (IRF5) promoter region in inflammatory bowel diseases

Alfred Balasa et al. Int J Colorectal Dis. 2010 May.

Abstract

Background and aims: A 5-bp insertion-deletion (indel) polymorphism in the promoter of interferon regulatory factor 5 (IRF5) has been associated with inflammatory bowel diseases (IBD). This polymorphism generates an additional binding site for the transcription factor SP1 and has been shown to augment the expression of IRF5. Additionally, it affects a CpG dinucleotide-dense genomic region. These features of the indel suggested that it may influence the epigenetic regulation of IRF5. The aim of this study was to investigate the potential effect of the 5-bp indel on the methylation pattern of four CpG sites upstream of the polymorphism. Possible CpG site methylation differences in this region between healthy persons and individuals suffering from IBD were also tested.

Methods: Genotype was determined by 4% polyacrylamide gel electrophoresis in 33 peripheral blood leukocyte (PBL) DNA samples. DNA methylation correlates of the genotypes were measured by bisulfite pyrosequencing. IRF5 promoter methylation in association to disease state was assessed in 87 proband (49 healthy, 18 Crohn's disease, 20 ulcerative colitis) PBL samples.

Results: The polymorphism did not affect the methylation pattern of the IRF5 promoter nor could we detect significant differences in the average, low methylation of the locus between healthy persons and individuals with IBD.

Conclusions: These results implicate that epigenetic dysregulation of the IRF5 promoter is unlikely to be associated with IBD.

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Figures

Fig. 1
Fig. 1
Comparison of mean CpG methylation adjacent to the IRF5 indel. a Mean methylation in relationship to genotypes. Average methylation was uniformly low (n=6–19). Confidence intervals (95%) for comparing 3×/4× (mean 3.1%) and 4×/4× (mean 3.57%) with 3×/3× (mean 4.2%) are −1.515 to 3.773 and −1.725 to 3.032, respectively. b Mean methylation in relationship to inflammatory bowel diseases (n = 18–49). Confidence intervals (95%) are −0.85% to 1.47% and −0.37% to 2.58%, respectively for comparison of CD (mean 3.74%) and UC (mean 4.9%) with healthy (mean 3.44%) groups. 3×/3× homozygous deletion, 3×/4× heterozygous insertion, 4×/4× homozygous insertion
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