Association of 10 p Locus with Slovenian Inflammatory Bowel Disease Patients
Katja Repnik
University of Maribor, Faculty of Medicine, Center for Human Molecular Genetics and Pharmacogenomics, Taborska Ulica 8, 2000 Maribor, Slovenia and University of Maribor, Faculty for Chemistry and Chemical Engineering, Smetanova 17, 2000 Maribor, Slovenia.
Mario Gorenjak
University of Maribor, Faculty of Medicine, Center for Human Molecular Genetics and Pharmacogenomics, Taborska Ulica 8, 2000 Maribor, Slovenia and University of Maribor, Faculty of Agriculture and Life Sciences, Pivola 10, 2311 Hoče, Slovenia.
Uroš Potočnik *
University of Maribor, Faculty of Medicine, Center for Human Molecular Genetics and Pharmacogenomics, Taborska Ulica 8, 2000 Maribor, Slovenia and University of Maribor, Faculty for Chemistry and Chemical Engineering, Smetanova 17, 2000 Maribor, Slovenia.
*Author to whom correspondence should be addressed.
Abstract
Aim: To evaluate association of 10 p locus in Slovenian inflammatory bowel disease (IBD) patients with different sub-phenotypes.
Methodology: Genotyping of three selected SNPs from 10 p locus was performed in 594 IBD patients, divided into three sub-phenotypes, Crohn’s disease (CD), ulcerative colitis (UC) and refractory CD, and in 250 healthy controls with PCR-RFLP technique. Clinical characteristics of patients were compared according to genotype of selected SNPs.
Results: We found statistically significant correlation of all three selected SNPs with different sub-phenotypes of IBD. For SNP rs12777960 on gene CCNY we found association with all IBD patients and UC patients separately, where frequency of AA and AC genotype was higher in a group of patients compared to controls (P = .007). For SNP rs4934697 we found statistically significant association only for refractory CD patients, where frequency of CT and TT genotype was higher in a group of patients compared to controls (P = .01). For SNP rs2254252 on gene SEPHS1 we found association for a group of all IBD patients and CD patients, where frequency of allele T was higher in a group of patients (0.521) compared to healthy controls (0.451, P = .009). We identified novel association between age at diagnosis and genotype of SNP rs12777960 in gene CCNY where patients with disease susceptible genotype AA were diagnosed younger compared to patients with AC/CC genotype (P = .03).
Conclusion: We confirmed candidate SNPs and genes from 10 p region in population of Slovenian IBD patients and found specific correlations of SNPs with different sub-phenotypes of IBD, particularly SEPHS1 with CD, CCNY with UC and region near CREM and CCNY genes with refractory CD.
Keywords: Inflammatory bowel disease, chromosome 10, association analysis, SNPs