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Hum Immunol. 2013 Sep;74(9):1161-9. doi: 10.1016/j.humimm.2013.06.026. Epub 2013 Jun 24.

Haplotypes of the IL-1 gene cluster are associated with gastroesophageal reflux disease and Barrett's esophagus.

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  • 1Department of Pathophysiology, Medical Faculty, Masaryk University Brno, Czech Republic. holla@med.muni.cz



Gastroesophageal reflux (GERD) is a one of the major public health problem that can lead to reflux esophagitis (RE), Barrett's esophagus (BE), and esophageal adenocarcinoma (EAC). The aim of our study was to determine the impact of IL-1 gene polymorphisms on the development of GERD, RE and BE.


Three hundred and thirty-three Czech patients with gastroesophageal reflux and 165 healthy controls were included in this case-control study. Four polymorphisms in the genes of the IL-1 cluster [IL-1A(-889C/T), IL-1B(-511C/T), IL-1B(+3953C/T), and IL-1RN(VNTR)] were analyzed.


Significant differences were found in IL-1RN 1/2 genotype between patients with GERD/RE and controls and in IL-1B+3953 T allele between patients with BE and healthy subjects. In addition, complex analysis revealed differences in IL-1 haplotype frequencies between the groups. Specifically, the haplotype TCCL was significantly more frequent (p = 0.016) in GERD patients than in controls and the haplotype CCCL more frequent (p = 0.008) in RE patients than in controls. However, in patients with BE, frequency of haplotype TCTL was lower (p = 0.05) and haplotypes CTCL and TCCL were higher (p = 0.03 and p = 0.02) in comparison with the controls.


Our results suggest that IL-1 haplotypes may be associated with susceptibility to GERD, RE and BE.

Copyright © 2013 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.


BE; Barrett’s esophagus; CI; DNA; DU; EAC; EC; EE; GAC; GERD; GIQLI; GU; HWE; Hardy–Weinberg equilibrium; IL-1; LD; LES; NERD; OR; PCR; RE; RFLP; SNP; VNTR; adenocarcinoma of the esophagus; confidence intervals; deoxyribonucleic acid; duodenal ulcer; erosive esophagitis; esophageal cancer; gastric adenocarcinoma; gastric ulcer; gastroesophageal reflux disease; gastrointestinal quality of life index; interleukin-1; linkage disequilibrium; lower esophageal sphincter; non-erosive reflux disease; odds ratio; polymerase chain reaction; reflux esophagitis; restriction fragment length polymorphism; single nucleotide polymorphism; variable number tandem repeat

[PubMed - indexed for MEDLINE]
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