期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 85, 期 1, 页码 13-24出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2009.05.011
关键词
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资金
- MRC [G0801418] Funding Source: UKRI
- Medical Research Council [G0801418] Funding Source: Medline
- Wellcome Trust Funding Source: Medline
- Medical Research Council [G0801418] Funding Source: researchfish
We present a method for testing overrepresentation of biological pathways, indexed by gene-ontology terms, in lists of significant SNPs from genome-wide association studies. This method corrects for linkage disequilibrium between SNPs, variable gene size, and multiple testing of nonindependent pathways. The method was applied to the Wellcome Trust Case-Control Consortium Crohn disease (CD) data set. At a general level, the biological basis of CD is relatively well known for a complex genetic trait, and it thus acted as a test of the method. The method, known as ALIGATOR (Association LIst Go AnnoTatOR), successfully detected biological pathways implicated in CD. The method was also applied to a meta-analysis of bipolar disorder, and it implicated the modulation of transcription and cellular activity, including that which occurs via hormonal action, as an important player in pathogenesis.
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