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Updated: Feb 23, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association Between IL-4 and IL-6 Expression Variants and Gastric Cancer Among Portuguese Population
Ana Maria Sampaio1,2, Sandra Caramujo Balseiro2,3, Maria Reis Silva1,3
1Institute of Pathology, Faculty of Medicine of the University of Coimbra, Coimbra, Portugal.
Introduction:
Multiple studies have reported strong associations between Helicobacter pylori (Hp) inflammation and gastric cancer (GC) development. Altered expressions of pro/anti-inflammatory cytokines have a crucial role in Hp and GC proliferation. Although there are many studies related to cytokines polymorphisms involvement in GC risk, the role of Interleukin-4 (IL-4) and Interleukin-6 (IL-6) in gastric inflammation process is not yet clarified.
Aim:
This study aimed to investigate the impact of common IL-4 and IL-6 polymorphisms in GC development risk among Portuguese population.
Methods:
A total of 100 GC biopsies (50 with intestinal type, IGC, 50 with diffuse type, DGC) and 50 chronic gastritis cases, used as control group, were included in this case-control study. IL-4 and IL-6 common polymorphisms were genotyped by PCR-SSP, using commercially available kits.
Results:
IL-4 low producer genotypes, IL-4-590TT (OR = 6.7; 95% CI 1.4-32.4) and IL-4-1098GG (OR = 4.4; 95% CI 1.7-16.9) were found associated with IGC and DGC, respectively. We also verified that IL-4 TTT haplotype was linked with both IGC (OR = 5.8; 95% CI 2.3-14.4) and DGC (OR = 2.3; 95% CI 1.0-5.5) groups. Concerning IL-6 results, IL-6-174CG genotype showed a higher prevalence among IGC cases (OR = 7.3; 95% CI 2.7-20.3), and IL-6-174CC (OR = 3.8; 95% CI 1.7-8.7) showed upper prevalence within DGC subjects. Finally, IL-6-174/nt565CG haplotype showed a significant association with both IGC (OR = 7.3; 95% CI 2.7-20.3) and DGC (OR = 7.9; 95% CI 4.2-14.9).
Conclusion:
IL-6 and IL-4 expression variants seem to have an important role in GC risk mechanisms. This study provides preliminary evidence that IL-4 and IL-6 polymorphisms, although not directly linked to the disease, may be useful tools in the study of this multifactorial disease.

