ABSTRACT
OBJECTIVE: Ulcerative colitis and Crohn's disease are the two clinical forms of inflammatory bowel disease (IBD). Diverse studies have shown the association of single nucleotide polymorphism (SNP) in molecules of the immune system and the occurrence of IBD. Here, several SNPs of the immune system with controversial results for their association with UC and CD were evaluated in a Mexican population. METHODS: SNPs rs1800896, rs3024505 (IL-10); rs11209026 (IL23R); rs2066844, rs2066845 (NOD-2), and rs2241880 (ATG16L1) were assessed in 93 patients with IBD and 200 healthy controls by hybridization probes and quantitative PCR. RESULTS: The AG genotype for rs1800896 was associated with an increased risk for both UC and CD (P = 0.005 and P = 0.026, respectively); whereas the AA genotype presents a negative association (P = 0.011 for UC, and 0.0038 for CD). For this SNP, G allele was associated with risk of UC (P = 0-043) but not for CD. For the rs3024505 in IL-10, T allele was associated with UC (P = 0.011). Moreover, this allele was associated with early onset of UC (P = 0.033) and with the use of steroid treatment (P = 0.019). No significant differences for NOD2 (rs2066844T and rs2066845C), IL23R (rs11209026), and ATG16L1 (rs22411880) were found between cases and controls and the homozygous TT genotype for rs2066844 and CC for rs2066845 were not observed. CONCLUSION: Our results show both genotypic and phenotypic associations of IL-10 SNPs with IBD but not with the other immune-related SNPs studied in this Mexican cohort.
Subject(s)
Colitis, Ulcerative , Inflammatory Bowel Diseases , Autophagy-Related Proteins/genetics , Case-Control Studies , Colitis, Ulcerative/diagnosis , Colitis, Ulcerative/genetics , Genetic Predisposition to Disease , Genotype , Humans , Inflammatory Bowel Diseases/genetics , Interleukin-10/genetics , Nod2 Signaling Adaptor Protein/genetics , Polymorphism, Single Nucleotide , Receptors, Interleukin/geneticsABSTRACT
BACKGROUND: In the systemic sclerosis (SSc) gastrointestinal manifestations are present up to 90 % and the esophagus is the most affected organ. The purpose was to investigate clinical, endoscopic and manometric upper gastroesophageal manifestations in patients with SSc. METHODS: We studied 60 patients with SSc, mean age of 48 +/- 11 years and a mean disease evolution of 11 +/- 8 years. An endoscopy of gastro-esophageal tract and esophageal manometry were performed. RESULTS: The clinical manifestations were: dysphagia 80 %, pirosis and regurgitations 78 %. Endoscopic findings were: esophagitis 60 %, hiatal hernia 65 %, loose hiatus 15 % and Barrett's esophagus 18 %. Manometric findings were hypotensive lower esophageal sphincter (LES) 95 %. Aperistalsis (41 %), slight hypomotility (30 %), severe hypomotility (27 %) were found. Gastric manifestations were: early satiety 45 %, abdominal pain 35 %, nausea 20 % and vomiting 10 %, and by endoscopy we observed: Gastric disturbances in 80 %, of these 40 % corresponds to non erosive gastropathy, 30 % to erosive gastropathy and 10 % to nodular gastropathy. CONCLUSIONS: The most frequents endoscopic finding were esophagitis and hiatal hernia, and by manometry were aperistalsis and hypotensive LES. These alterations imply disorders of motility and dysfunction of LES. Barrett's esophagus was always associated with hiatal hernia.
