Interleukin-23 receptor single nucleotide polymorphisms in ulcerative colitis. A study in Iranian populations

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• 作者：Nasser Ebrahimi Daryani^a ; Farnaz Najmi Varzaneh^b ; Mona Hedayat^c ; Mohammad Taher^a ; Elham Farhadi^a ; ^d ; Mahdi Mahmoudi^e ; Mohammad Hossein Nicknam^b ; Mohammad Bashashati^f ; Nima Rezaei^b ; ^g ; ^{rezaei_nima@tums.ac.ir" class="auth_mail}
• 刊名：Clinics and Research in Hepatology and Gastroenterology
• 出版年：June 2014
• 年：2014
• 卷：38
• 期：3
• 页码：360-365
• 全文大小：586 K

文摘

Genetic factors seem to play an important role in the pathogenesis of ulcerative colitis (UC). Genome wide association studies showed a highly significant association between interleukin 23 receptor (IL23R) single nucleotide polymorphisms (SNPs) and Crohn's disease; however, there are contrary results regarding the disease-modifying effects of IL23R variants in UC. This study was performed in a group of patients with UC to test the possible role of IL23R SNPs in conferring susceptibility or protection against the disease.

Methods

The study was performed on 67 Iranian adult patients with UC and 78 healthy controls. Eight IL23R SNPs were genotyped, using real-time polymerase chain reaction (RT-PCR). The frequencies of alleles and genotype at each position were determined and compared between two groups of patients and controls.

Results

The frequency of the T allele at position rs1343151 was significantly higher in the patient group, compared to the controls (P = 0.018). The TT genotype at the same position was also significantly overrepresented in the patient group (P = 0.02). There was no significant difference in alleles and genotype frequencies of other SNPs between patients and controls.

Conclusions

This study identified a new susceptibility locus associated with UC. Our findings provide further insight into the genetics of UC, which might be amenable to future therapeutic intervention.