scholarly journals Identification of disease-associated pathways in pancreatic cancer by integrating genome-wide association study and gene expression data

2016 ◽  
Vol 12 (1) ◽  
pp. 537-543
Author(s):  
JIN LONG ◽  
ZHE LIU ◽  
XINGDA WU ◽  
YUANHONG XU ◽  
CHUNLIN GE
2012 ◽  
Vol 21 (9) ◽  
pp. 2111-2123 ◽  
Author(s):  
Darren A. Cusanovich ◽  
Christine Billstrand ◽  
Xiang Zhou ◽  
Claudia Chavarria ◽  
Sherryl De Leon ◽  
...  

2018 ◽  
Author(s):  
Oliver Pain ◽  
Andrew J. Pocklington ◽  
Peter A. Holmans ◽  
Nicholas J. Bray ◽  
Heath E. O’Brian ◽  
...  

AbstractBackgroundA recent genome-wide association study (GWAS) of autism spectrum disorders (ASD) (Ncases=18,381, Ncontrols=27,969) has provided novel opportunities for investigating the aetiology of ASD. Here, we integrate the ASD GWAS summary statistics with summary-level gene expression data to infer differential gene expression in ASD, an approach called transcriptome-wide association study (TWAS).MethodsUsing FUSION software, ASD GWAS summary statistics were integrated with predictors of gene expression from 16 human datasets, including adult and fetal brain. A novel adaptation of established statistical methods was then used to test for enrichment within candidate pathways, specific tissues, and at different stages of brain development. The proportion of ASD heritability explained by predicted expression of genes in the TWAS was estimated using stratified linkage disequilibrium-score regression.ResultsThis study identified 14 genes as significantly differentially expressed in ASD, 13 of which were outside of known genome-wide significant loci (±500kb). XRN2, a gene proximal to an ASD GWAS locus, was inferred to be significantly upregulated in ASD, providing insight into functional consequence of this associated locus. One novel transcriptome-wide significant association from this study is the downregulation of PDIA6, which showed minimal evidence of association in the GWAS, and in gene-based analysis using MAGMA. Predicted gene expression in this study accounted for 13.0% of the total ASD SNP-heritability.ConclusionThis study has implicated several genes as significantly up-/down-regulated in ASD providing novel and useful information for subsequent functional studies. This study also explores the utility of TWAS-based enrichment analysis and compares TWAS results with a functionally agnostic approach.


2020 ◽  
Vol 14 ◽  
Author(s):  
Mette Soerensen ◽  
Dominika Marzena Hozakowska-Roszkowska ◽  
Marianne Nygaard ◽  
Martin J. Larsen ◽  
Veit Schwämmle ◽  
...  

Genomics ◽  
2019 ◽  
Vol 111 (6) ◽  
pp. 1882-1888 ◽  
Author(s):  
Chuanjia Yang ◽  
Yan Wang ◽  
Weixue Xu ◽  
Zhen Liu ◽  
Siqi Zhou ◽  
...  

2018 ◽  
Vol 14 (5) ◽  
pp. e1006105 ◽  
Author(s):  
Aaditya V. Rangan ◽  
Caroline C. McGrouther ◽  
John Kelsoe ◽  
Nicholas Schork ◽  
Eli Stahl ◽  
...  

2011 ◽  
Vol 7 ◽  
pp. S184-S184
Author(s):  
Nilufer Ertekin-Taner ◽  
Fanggeng Zou ◽  
High Chai ◽  
Curtis Younkin ◽  
Julia Crook ◽  
...  

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