基因多态性与疾病关联研究中Hardy-Weinberg平衡的影响因素分析

陈阿群; 臧静; 冯云霞; 王凯娟

Abstract

陈阿群,臧静,冯云霞,王凯娟.基因多态性与疾病关联研究中Hardy-Weinberg平衡的影响因素分析[J].Chinese journal of Epidemiology,2009,30(11):1203-1206

基因多态性与疾病关联研究中Hardy-Weinberg平衡的影响因素分析

Influential factors of Hardy-Weinberg equilibrium on the study of association between gene polymorphism and disease

Received:April 06, 2009

DOI：

KeyWord: 基因多态性 Hardy-Weinberg平衡影响因素

English Key Word: Gene polymorphism Hardy-Wcinberg equilibrium Influence factor

FundProject:国家自然科学基金(30972547)|河南省高等学校创新人才培养工程(2005)

Author Name	Affiliation	E-mail
CHEN Aqun	Department of Epidemiology, College of Public Health, Proteomics Research Center, Zhengzhou University, Zhengzhou 450001, China
ZANG Jing	Department of Epidemiology, College of Public Health, Proteomics Research Center, Zhengzhou University, Zhengzhou 450001, China
FENG Yun-xia	Department of Epidemiology, College of Public Health, Proteomics Research Center, Zhengzhou University, Zhengzhou 450001, China
WANG Kai-juan	Department of Epidemiology, College of Public Health, Proteomics Research Center, Zhengzhou University, Zhengzhou 450001, China	kjwang@163.com

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Abstract:

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-3l、IL-1B-51l、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 χ_{T_{²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-lRN位点分布的差异有统计学意义(P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-5ll、IL-IRN和耵师.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-影响岗素.}}

English Abstract:

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-l 73 tended to be equilibrium in the population.(2)Deviations from expectations of phenotypes combination probability were observed in two-site H-W χ²tests(P<0.01).(3)The Cochran-Armimge 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-lB-5l1, lL-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 differcnces of phenotypic combination fitness.(3)Population stratification was another factor to express the deviation from H-W equilibrium.

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