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病例-对照设计的似然比罕见变异关联性检验的构建和模拟评价

曾平 赵杨 陈峰 金英良 张耀东

郑州大学学报(医学版)2017,Vol.52Issue(2):122-126,5.
郑州大学学报(医学版)2017,Vol.52Issue(2):122-126,5.DOI:10.13705/j.issn.1671-6825.2017.02.004

病例-对照设计的似然比罕见变异关联性检验的构建和模拟评价

Development and simulations of likelihood ratio test for rare variants as-sociation analysis in case control studies

曾平 1赵杨 2陈峰 2金英良 1张耀东1

作者信息

  • 1. 徐州医科大学公共卫生学院流行病与卫生统计学教研室 江苏徐州 221004
  • 2. 南京医科大学公共卫生学院生物统计学系 南京 210009
  • 折叠

摘要

Abstract

Aim: To develop a likelihood ratio test for rare variant association analysis in case control studies .Meth-ods:The likelihood ratio test was constructed under the framework of logistic mixed models;a new pseudo-data set was ob-tained via the working response in the PQL algorithm , which transformed the problem of testing rare variants association in case control studies into the problem of testing rare variants association with continuous under the framework of linear mixed models.The Monte Carlo simulation was conducted to evaluate the proposed test and to compare with existing methods .Re-sults:The simulations showed that all the methods could control the type Ⅰerror correctly .When the effects of the causal rare variants were in the same direction , the Burden test , SKAT-O and MiST were most powerful;while if both positive and negative effects were present , the likelihood ratio test outperformed the others .Conclusion:The likelihood ratio test devel-oped using the logistic mixed models and the PQL algorithm can be applicable to rare variant association analysis in case control studies.

关键词

罕见变异/关联性分析/logistic混合模型/似然比检验

Key words

rare variant/association study/logistic mixed model/likelihood ratio test

分类

医药卫生

引用本文复制引用

曾平,赵杨,陈峰,金英良,张耀东..病例-对照设计的似然比罕见变异关联性检验的构建和模拟评价[J].郑州大学学报(医学版),2017,52(2):122-126,5.

基金项目

国家自然科学基金项目 81402765 ()

国家统计局全国统计科学研究项目 2014LY112 ()

郑州大学学报(医学版)

OA北大核心CSTPCD

1671-6825

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