The Genotype-Tissue Expression (GTEx) project
- J. Lonsdale, Jeffrey A. Thomas, H. Moore
- BiologyNature Genetics
- 1 May 2013
The Genotype-Tissue Expression (GTEx) project is described, which will establish a resource database and associated tissue bank for the scientific community to study the relationship between genetic variation and gene expression in human tissues.
A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
- Y. Ogura, D. Bonen, Judy H. Cho
- BiologyNature
- 31 May 2001
It is shown that a frameshift mutation caused by a cytosine insertion, 3020insC, which is expected to encode a truncated NOD2 protein, is associated with Crohn's disease, and a link between an innate immune response to bacterial components and development of disease is suggested.
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
The landscape of gene expression across tissues is described, thousands of tissue-specific and shared regulatory expression quantitative trait loci (eQTL) variants are cataloged, complex network relationships are described, and signals from genome-wide association studies explained by eQTLs are identified.
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
- J. Barrett, S. Hansoul, M. Daly
- BiologyNature Genetics
- 1 August 2008
The results strongly confirm 11 previously reported loci and provide genome-wide significant evidence for 21 additional loci, including the regions containing STAT3, JAK2, ICOSLG, CDKAL1 and ITLN1, which offer promise for informed therapeutic development.
A Genome-Wide Association Study Identifies IL23R as an Inflammatory Bowel Disease Gene
- R. Duerr, K. Taylor, Judy H. Cho
- Medicine, BiologyScience
- 1 December 2006
A highly significant association is found between Crohn's disease and the IL23R gene on chromosome 1p31, which encodes a subunit of the receptor for the proinflammatory cytokine interleukin-23, which prioritize this signaling pathway as a therapeutic target in inflammatory bowel disease.
A gene-based association method for mapping traits using reference transcriptome data
- E. Gamazon, H. Wheeler, H. Im
- BiologyNature Genetics
- 10 July 2015
The results demonstrate that PrediXcan can detect known and new genes associated with disease traits and provide insights into the mechanism of these associations.
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis
It is demonstrated that ATG16L1 is expressed in intestinal epithelial cell lines and that functional knockdown of this gene abrogates autophagy of Salmonella typhimurium, and these findings suggest thatAutophagy and host cell responses to intracellular microbes are involved in the pathogenesis of Crohn disease.
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
- A. Barbeira, Scott P. Dickinson, H. Im
- BiologybioRxiv
- 3 October 2017
A mathematical expression is derived to compute PrediXcan results using summary data, and the effects of gene expression variation on human phenotypes in 44 GTEx tissues and >100 phenotypes are investigated.
Trait-Associated SNPs Are More Likely to Be eQTLs: Annotation to Enhance Discovery from GWAS
- D. Nicolae, E. Gamazon, Wei Zhang, S. Duan, M. Dolan, N. Cox
- BiologyPLoS Genetics
- 1 April 2010
Results showing that trait-associated SNPs are more likely to be eQTLs and that application of this information can enhance discovery of trait- associated SNPs for complex phenotypes raise the possibility that this information both to increase the heritability explained by identifiable genetic factors and to gain a better understanding of the biology underlying complex traits.
Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function.
CHI3L1 is a susceptibility gene for asthma, bronchial hyperresponsiveness, and reduced lung function, and elevated circulating YKL-40 levels are a biomarker for asthma and decline in lung function.
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