Association of 10 p Locus with Slovenian Inflammatory Bowel Disease Patients

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.