Truncated tests for combining evidence of summary statistics

被引:10
作者
Bu, Deliang [1 ,2 ]
Yang, Qinglong [3 ]
Meng, Zhen [4 ]
Zhang, Sanguo [1 ,2 ]
Li, Qizhai [1 ,4 ]
机构
[1] Univ Chinese Acad Sci, Sch Math Sci, Beijing, Peoples R China
[2] Chinese Acad Sci, Key Lab Big Data Min & Knowledge Management, Beijing, Peoples R China
[3] Zhongnan Univ Econ & Law, Sch Stat & Math, Wuhan, Peoples R China
[4] Chinese Acad Sci, Acad Math & Syst Sci, NCMIS, LSC, Beijing 100190, Peoples R China
基金
北京市自然科学基金;
关键词
high-dimensional phenotypes; pleiotropy; summary statistics; truncated test; GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; METAANALYSIS; PHENOTYPES; RECEPTORS;
D O I
10.1002/gepi.22330
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
To date, thousands of genetic variants to be associated with numerous human traits and diseases have been identified by genome-wide association studies (GWASs). The GWASs focus on testing the association between single trait and genetic variants. However, the analysis of multiple traits and single nucleotide polymorphisms (SNPs) might reflect physiological process of complex diseases and the corresponding study is called pleiotropy association analysis. Modern day GWASs report only summary statistics instead of individual-level phenotype and genotype data to avoid logistical and privacy issues. Existing methods for combining multiple phenotypes GWAS summary statistics mainly focus on low-dimensional phenotypes while lose power in high-dimensional cases. To overcome this defect, we propose two kinds of truncated tests to combine multiple phenotypes summary statistics. Extensive simulations show that the proposed methods are robust and powerful when the dimension of the phenotypes is high and only part of the phenotypes are associated with the SNPs. We apply the proposed methods to blood cytokines data collected from Finnish population. Results show that the proposed tests can identify additional genetic markers that are missed by single trait analysis.
引用
收藏
页码:687 / 701
页数:15
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