Abstract 96: From genome-wide association studies (GWAS) to functional genomics of prostate cancer: exploring the role of candidate transcripts through RNAi-based analysis

Author(s):  
Wei Tang ◽  
Tamara L. Jones ◽  
Jason Pitt ◽  
Stefan Ambs ◽  
Natasha J. Caplen ◽  
...  
The Prostate ◽  
2010 ◽  
Vol 71 (9) ◽  
pp. 955-963 ◽  
Author(s):  
Yizhen Lu ◽  
Zheng Zhang ◽  
Hongjie Yu ◽  
S. Lily Zheng ◽  
William B. Isaacs ◽  
...  

2020 ◽  
Vol 26 (5) ◽  
pp. 490-500
Author(s):  
A. O. Konradi

The article reviews monogenic forms of hypertension, data on the role of heredity of essential hypertension and candidate genes, as well as genome-wide association studies. Modern approach for the role of genetics is driven by implementation of new technologies and their productivity. High performance speed of new technologies like genome-wide association studies provide data for better knowledge of genetic markers of hypertension. The major goal nowadays for research is to reveal molecular pathways of blood pressure regulation, which can help to move from populational to individual level of understanding of pathogenesis and treatment targets.


2009 ◽  
Vol 18 (4) ◽  
pp. 1285-1289 ◽  
Author(s):  
Kevin M. Waters ◽  
Loic Le Marchand ◽  
Laurence N. Kolonel ◽  
Kristine R. Monroe ◽  
Daniel O. Stram ◽  
...  

2019 ◽  
Vol 10 (1) ◽  
Author(s):  
Ryo Takata ◽  
Atsushi Takahashi ◽  
Masashi Fujita ◽  
Yukihide Momozawa ◽  
Edward J. Saunders ◽  
...  

Abstract Genome-wide association studies (GWAS) have identified ~170 genetic loci associated with prostate cancer (PCa) risk, but most of them were identified in European populations. We here performed a GWAS and replication study using a large Japanese cohort (9,906 cases and 83,943 male controls) to identify novel susceptibility loci associated with PCa risk. We found 12 novel loci for PCa including rs1125927 (TMEM17, P = 3.95 × 10−16), rs73862213 (GATA2, P = 5.87 × 10−23), rs77911174 (ZMIZ1, P = 5.28 × 10−20), and rs138708 (SUN2, P = 1.13 × 10−15), seven of which had crucially low minor allele frequency in European population. Furthermore, we stratified the polygenic risk for Japanese PCa patients by using 82 SNPs, which were significantly associated with Japanese PCa risk in our study, and found that early onset cases and cases with family history of PCa were enriched in the genetically high-risk population. Our study provides important insight into genetic mechanisms of PCa and facilitates PCa risk stratification in Japanese population.


Author(s):  
Diane Gilbert-Diamond ◽  
Folkert W Asselbergs ◽  
Scott M Williams ◽  
Jason H Moore

EBioMedicine ◽  
2016 ◽  
Vol 10 ◽  
pp. 150-163 ◽  
Author(s):  
Sarah L. Kerns ◽  
Leila Dorling ◽  
Laura Fachal ◽  
Søren Bentzen ◽  
Paul D.P. Pharoah ◽  
...  

2021 ◽  
Author(s):  
Ángel Ferrero-Serrano ◽  
Sarah M Assmann

Plants respond to environmental fluctuations through plastic phenotypic shifts. Whether a plastic response upon environmental variability is adaptive or not has been subject to debate. Using a set of Iberian Arabidopsis accessions, we quantified an interplay between passive plastic reductions in leaf areas that we found typical of accessions from productive environments and homeostatic leaf areas responses to drought typified by accessions originating from unproductive environments. Results from Genome-Wide Association Studies (GWAS) and Transcriptome Wide Association Studies (TWAS) highlight the role of auxin-related processes and, in particular, the possible role of the SMALL AUXIN UP RNA 26 (SAUR26) gene in the regulation of the observed plastic responses. Homeostatic responses in leaf area potential following drought were typical of accessions with lower leaf area potential under well-watered conditions. Transcripts that were negatively associated with leaf area potential and positively associated with homeostatic and positive leaf area plasticity following drought showed functional enrichment in ion transport processes. We hypothesized that the contrasting plastic and homeostatic responses in leaf area potential were associated with differential intrinsic water use efficiency (WUEi). We confirmed this relationship in a metanalysis conducted using previously published δ13C measurements. Our results highlight the adaptive role of homeostatic leaf area response to water depletion arising from increased WUEi. The concerted utilization of Genome-Wide Association Studies (GWAS), Transcriptome Wide Association Studies (TWAS), and expression Genome-Wide Association Studies (eGWAS) allows integration of phenotype, genotype, and transcript abundance to identify both "plasticity genes" and "homeostasis genes" associated with drought stress responses.


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