PPARγ is a nuclear receptor that regulates numerous pathways including cytokine expression and immune responses and plays an important role in controlling colon inflammation. We aimed at determining the occurringPPARγ SNPs, at predicting the haplotypes, and at determining the frequency outcome in inflammatory bowel disease (IBD) patients in comparison with healthy controls. We determined genetic variants in the coding exons and flanking intronic sequences of theNR1C3gene in 284 IBD patients and 194 controls and predictedNR1C3haplotypes via bioinformatic analysis. We investigated whether certainNR1C3variants are associated with susceptibility to IBD or its disease course. None of the detected 22NR1C3variants were associated with IBD. Two variants with allelic frequencies over 1% were included in haplotype/diplotype analyses. None of theNR3C1haplotypes showed association with IBD development or disease course. We conclude thatNR1C3haplotypes are not related to IBD susceptibility or IBD disease activity.
NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease
