Objective: According to the data collected from gastric cancer families comparative study, the influence factors of Hardy-Weinberg (H-W) equilibrium in the association studies of gene polymorphism and disease were analyzed to reveal the reasons that affecting the equilibrium deviation in the group.
Methods: Varieties of risk genotype for gastric cancer were analyzed and detected with H-W equilibrium, genetic linkage disequilibrium analysis and Cochran-Armitage trend test.
Results: (1) Significant deviations from H-W equilibrium were observed in IL-1B-31, IL-1B-511, IL-1RN and TNF-A-308 of the cases and controls (P < 0.01). MIF-173 tended to be equilibrium in the population. (2) Deviations from expectations of phenotypes combination probability were observed in two-site H-W chi(2) tests (P < 0.01). (3) The Cochran-Armitage trend test showed that distribution of IL-1B-511 and IL-1RN were significantly different (P < 0.05), suggesting that population stratification might have existed in the group.
Conclusions: (1) Affected by frequency-dependent selection, under the combination of linkage disequilibrium, mutations and interaction, genotype frequency of IL-1B-31, IL-1B-511, IL-1RN and TNF-A-308 showed deviation from H-W equilibrium in population. (2) Two-site genetic equilibrium test model seemed better to reflect the differences of phenotypic combination fitness. (3) Population stratification was another factor to express the deviation from H-W equilibrium.
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