IL23R, NOD2/CARD15, ATG16L1 and PHOX2B polymorphisms in a group of patients with Crohn's disease and correlation with sub-phenotypes MATTIA LAURIOLA1,2*, GIAmPAOLO UGOLINI3*, STEFANO RIvETTI1,2, SARA NANì1,2, GIANCARLO ROSATI3,
نویسنده
چکیده
Recent genomic research has identified interleukin-23 receptor (IL23R), nucleotide-binding oligomerization domain containing 2 caspase-activation recruitment domain 15 (NOD2/CARD15), autophagy related 16-like 1 (ATG16L1) and paired-like homeobox 2b (PHOX2B) as susceptibility loci for Crohn's Disease (CD). Our aim was to investigate these gene variants in a group of CD patients and to analyse the correlation to sub-phenotypes such as gender, smoking habits, disease behaviour at diagnosis, severity of disease and extra-intestinal manifestations. Nineteen patients with CD and 20 healthy controls were included in the study. The gene variants IL23R rs7517847 and rs11209026, NOD2/CARD15 rs2066845, PHOX2B rs16853571, ATG16L1 rs2241879 and rs2241880 were genotyped by PCR followed by sequencing. The frequency of the G risk allele of IL23R rs7517847 was found to be increased in patients with CD (42%) compared to that in control subjects (20%) [odds ratio (OR), 2.9; 95% confidence interval [CI], 1.06-7.9; P=0.03]. In addition, the homozygous condition GG was also associated with CD (OR, 8.70; 95% CI, 0.9-81.6; P=0.038). The analysis of correlation of genotype to sub-phenotypes showed an association of ATG16L1 rs2241879 with the lack of extra-intestinal manifestations (OR, 0.03; 95% CI, 0.002-0.45; P=0.006), and the patients defined as non-smokers displayed an increased frequency of the risk allele C (P=0.03). The present study confirms the association of the heterozygous and homozygous IL23R rs7517847 variant with CD and suggests an additive effect of smoking to the ATG16L1 rs2241879 C risk allele SNP, in the context of the multifactorial model established for the development of CD and a protective effect of the same allele against extra-intestinal manifestations.
منابع مشابه
Barrett's esophagus associates with a variant of IL23R gene.
Gastroesophageal reflux disease is regarded as a spectrum of diseases: non-erosive reflux disease (NERD), erosive reflux disease (ERD), and the far end of the spectrum represented by patients with Barrett's esophagus. Among predisposing factors, both risk and protective polymorphic variants of several genes may influence the clinical outcomes of reflux disease. Consequently, different molecular...
متن کاملبررسی نقش جهشهای شایع ژن NOD2 در بیماری کرون
Abstract Background: NOD2 gene located on chromosome 16 (IBD1) is known to have a strong association with Crohn’s disease. Three common polymorphisms of this gene including R702W, G908R, 1007fsinsC, were reported to be frequent in many western populations while rare occurrence of them was observed in eastern countries. The aim of this study was to assess the frequency of these polymorphisms ...
متن کاملGenotyping of CARD15/NOD2, ATG16L1 and IL23R Genes in Polish Crohn’s Disease (CD) Patients – Are They Related to the Localization of the Disease and Extra-Intestinal Symptoms?
متن کامل
Regular paper Barrett’s esophagus associates with a variant of IL23R gene
Gastroesophageal reflux disease is regarded as a spectrum of diseases: non-erosive reflux disease (NERD), erosive reflux disease (ERD), and the far end of the spectrum represented by patients with Barrett’s esophagus. Among predisposing factors, both risk and protective polymorphic variants of several genes may influence the clinical outcomes of reflux disease. Consequently, different molecular...
متن کاملNOD2/CARD15 gene influences disease behaviour but not IBD susceptibility in a Moroccan population.
BACKGROUND/AIMS IBD (Crohn's disease and Ulcerative Colitis) is chronic and multifactorial disease of the gastrointestinal tract. Till now, his pathogenesis remains unclear. It involves innate immunity, environmental component and genetic predisposition. Polymorphisms in NOD2/CARD15 have been implicated in Crohn's disease in several ethnic groups. The purpose of our study was to assess the freq...
متن کامل