We report significant association of functional CTLA4 CT60 polymorphism (rs3087243) in the promotor region of CTLA4 gene with Inflammatory bowel diseases patients and lower expression of soluble CTLA4 isoform than membrane bound full length isoform in lymphocytes from IBD patients with CTLA4 CT60 GG genotype. Our genotype and gene expression data suggest CTLA4 plays role in IBD genetic susceptibility and pathogenesis. Our study also suggest genotype/gene expression studies could be helpful in linking most significantly disease associated SNPs in non-coding regions with genes they regulate
COBISS.SI-ID: 3648319
We have developed High resolution melting analysis (HRM) for high-throughput cost effective genotyping of single nucleotide polymorphisms (SNPs) in IL23 gene. Using two different melting curve data analysis algorithms, Tm calling« and »gene scanning, we have determined genotypes for 640 DNA samples and found 98,6% concordance with genotypes determined by reference RFLP method on the same samples. We have also found significant correlation between polymorphism in IL23R gene (rs rs7517847) and Slovenian inflammatory bowel diseases patients.
COBISS.SI-ID: 3649343