The development of genome-wide association studies and their application to complex diseases, including lupus

Lupus ◽  
2013 ◽  
Vol 22 (12) ◽  
pp. 1205-1213 ◽  
Author(s):  
J Bentham ◽  
TJ Vyse
2020 ◽  
Vol 10 (7) ◽  
pp. 1776-1784
Author(s):  
Shudong Wang ◽  
Jixiao Wang ◽  
Xinzeng Wang ◽  
Yuanyuan Zhang ◽  
Tao Yi

Genome-wide association studies (GWAS) are powerful tools for identifying pathogenic genes of complex diseases and revealing genetic structure of diseases. However, due to gene-to-gene interactions, only a part of the hereditary factors can be revealed. The meta-analysis based on GWAS can integrate gene expression data at multiple levels and reveal the complex relationship between genes. Therefore, we used meta-analysis to integrate GWAS data of sarcoma to establish complex networks and discuss their significant genes. Firstly, we established gene interaction networks based on the data of different subtypes of sarcoma to analyze the node centralities of genes. Secondly, we calculated the significant score of each gene according to the Staged Significant Gene Network Algorithm (SSGNA). Then, we obtained the critical gene set HYC of sarcoma by ranking the scores, and then combined Gene Ontology enrichment analysis and protein network analysis to further screen it. Finally, the critical core gene set Hcore containing 47 genes was obtained and validated by GEPIA analysis. Our method has certain generalization performance to the study of complex diseases with prior knowledge and it is a useful supplement to genome-wide association studies.


2007 ◽  
Vol 2 ◽  
pp. 117727190700200 ◽  
Author(s):  
Stephen F. Kingsmore ◽  
Ingrid E. Lindquist ◽  
Joann Mudge ◽  
William D. Beavis

Novel, comprehensive approaches for biomarker discovery and validation are urgently needed. One particular area of methodologic need is for discovery of novel genetic biomarkers in complex diseases and traits. Here, we review recent successes in the use of genome wide association (GWA) approaches to identify genetic biomarkers in common human diseases and traits. Such studies are yielding initial insights into the allelic architecture of complex traits. In general, it appears that complex diseases are associated with many common polymorphisms, implying profound genetic heterogeneity between affected individuals.


2014 ◽  
Vol 39 (1) ◽  
pp. 11-19 ◽  
Author(s):  
Huann-Sheng Chen ◽  
Carolyn M. Hutter ◽  
Leah E. Mechanic ◽  
Christopher I. Amos ◽  
Vineet Bafna ◽  
...  

2012 ◽  
Vol 50 (2) ◽  
Author(s):  
Margarida C. Lopes ◽  
Eleftheria Zeggini ◽  
Kalliope Panoutsopoulou

AbstractThe success of genome-wide association studies (GWAS) in identifying replicating associations has greatly contributed to understanding of the genetic aetiology of complex diseases. This review discusses and provides examples of the potential of GWAS findings to be translated into clinical practice, i.e., diagnosis, prediction, prognosis, novel treatments and response to treatment of common diseases. The biological insights afforded by newly-identified robust associations represent the largest, albeit indirect, translational contribution of GWAS.


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