Pathway-based analysis of primary biliary cirrhosis genome-wide association studies

Pathway-based analysis of primary biliary cirrhosis genome-wide association studies

Genome-wide association studies (GWAS) have successfully identified several loci associated with primary biliary cirrhosis (PBC) risk. Pathway analysis complements conventional GWAS analysis. We applied the recently developed linear combination test for pathways to datasets drawn from independent PB...

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Veröffentlicht in:Genes and immunity 2013-04, Vol.14 (3), p.179-186
Hauptverfasser: Kar, S P, Seldin, M F, Chen, W, Lu, E, Hirschfield, G M, Invernizzi, P, Heathcote, J, Cusi, D, Gershwin, M E, Siminovitch, K A, Amos, C I
Format: Artikel
Sprache:eng
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631/208/205/2138
631/80/86
692/699/1503/1607/1606
Algorithms
Analysis
Autoimmune diseases
Biliary cirrhosis
Biomedical and Life Sciences
Biomedical research
Biomedicine
Canada
Cancer Research
Cirrhosis
Cohort Studies
Databases, Genetic
Datasets
Development and progression
Etiology
Female
Gene Expression
Gene Frequency
Gene loci
Gene set enrichment analysis
Genetic aspects
Genetic Predisposition to Disease - genetics
Genetics
Genome-wide association studies
Genome-Wide Association Study - methods
Genomes
Genotype
Hedgehog protein
Hedgehog proteins
Human Genetics
Humans
Immunology
Italy
Linkage Disequilibrium
Liver cirrhosis
Liver Cirrhosis, Biliary - genetics
Liver diseases
Male
Medicine
Meta-Analysis as Topic
Middle Aged
original-article
Phosphatidylinositol
Physiological aspects
Polymorphism, Single Nucleotide
Primary biliary cirrhosis
Quantitative trait loci
Signal transduction
Signal Transduction - genetics
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Zusammenfassung:Genome-wide association studies (GWAS) have successfully identified several loci associated with primary biliary cirrhosis (PBC) risk. Pathway analysis complements conventional GWAS analysis. We applied the recently developed linear combination test for pathways to datasets drawn from independent PBC GWAS in Italian and Canadian subjects. Of the Kyoto Encyclopedia of Genes and Genomes and BioCarta pathways tested, 25 pathways in the Italian dataset (449 cases, 940 controls) and 26 pathways in the Canadian dataset (530 cases, 398 controls) were associated with PBC susceptibility ( P
ISSN:1466-4879
1476-5470
DOI:10.1038/gene.2013.1