CAJ | 학술논문

目的根据炎性基因多态性与胃癌易感性家系比较研究的数据,分析基因多态性与疾病关联研究中Hardy-Weinberg(H-W)平衡的影响因素,揭示群体中等位基因频率在逐代传递中平衡偏离的原因.方法对胃癌风险因素的各种基因型的状态进行H-W平衡检验、连锁不平衡分析、Cochran-Armitage趋势检验和分析.结果 (1)单位点IL-1B-31、IL-1B-511、IL-1RN和TNF-A-308的病例组和对照组均显著背离H-W平衡(P<0.01),MIF-173趋于平衡.(2)双位点统计分析,各位点组合的H-W χT2检验均偏离表型组合概率的期望值(P<0.01).(3)Cochran-Armitage趋势检验不同组IL-1B-511和IL-1RN位点分布的差异有统计学意义(P<0.05),表明群体中可能存在群体分层.结论 (1)受连锁不平衡相结合的频率依赖性选择、突变及其共同作用的影响,IL-1B-31、IL-1B-511、IL-IRN和TNF-A-308位点的基因型频率在群体中分布偏离H-W平衡.(2)双位点遗传平衡检验模式更能反映表型组合适合度的差异.(3)群体分层是H-W平衡偏离的另一影响因素.
목적 근거염성기인다태성여위암역감성가계비교연구적수거,분석기인다태성여질병관련연구중Hardy-Weinberg(H-W)평형적영향인소,게시군체중등위기인빈솔재축대전체중평형편리적원인.방법 대위암풍험인소적각충기인형적상태진행H-W평형검험、련쇄불평형분석、Cochran-Armitage추세검험화분석.결과 (1)단위점IL-1B-31、IL-1B-511、IL-1RN화TNF-A-308적병례조화대조조균현저배리H-W평형(P<0.01),MIF-173추우평형.(2)쌍위점통계분석,각위점조합적H-W χT2검험균편리표형조합개솔적기망치(P<0.01).(3)Cochran-Armitage추세검험불동조IL-1B-511화IL-1RN위점분포적차이유통계학의의(P<0.05),표명군체중가능존재군체분층.결론 (1)수련쇄불평형상결합적빈솔의뢰성선택、돌변급기공동작용적영향,IL-1B-31、IL-1B-511、IL-IRN화TNF-A-308위점적기인형빈솔재군체중분포편리H-W평형.(2)쌍위점유전평형검험모식경능반영표형조합괄합도적차이.(3)군체분층시H-W평형편리적령일영향인소.
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-IB-511, IL-IRN 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 χ2 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.