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


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

DOI: 10.1016/j.humimm.2013.06.026
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@article{Holla2013HaplotypesOT, title={Haplotypes of the IL-1 gene cluster are associated with gastroesophageal reflux disease and Barrett's esophagus.}, author={Lydie Izakovicova Holla and Petra Bořilov{\'a} Linhartov{\'a} and Barbara Hrdlickov{\'a} and Filip Marek and Jiri Dolina and Vladim{\'i}r Řih{\'a}k and Zdeněk Kala}, journal={Human immunology}, year={2013}, volume={74 9}, pages={1161-9} }