scholarly journals Genome-wide association studies of bipolar disorder: A systematic review of recent findings and their clinical implications

2017 ◽  
Vol 72 (2) ◽  
pp. 52-63 ◽  
Author(s):  
Masashi Ikeda ◽  
Takeo Saito ◽  
Kenji Kondo ◽  
Nakao Iwata
Author(s):  
Selena Aranda ◽  
Esther Jiménez ◽  
Lourdes Martorell ◽  
Gerard Muntané ◽  
Eduard Vieta ◽  
...  

Author(s):  
Jéssica Vilarinho Cardoso ◽  
Jamila Alessandra Perini ◽  
Daniel Escorsim Machado ◽  
Ricardo Pinto ◽  
Rui Medeiros

Author(s):  
Tim B Bigdeli ◽  
Ayman H Fanous ◽  
Yuli Li ◽  
Nallakkandi Rajeevan ◽  
Frederick Sayward ◽  
...  

Abstract Background Schizophrenia (SCZ) and bipolar disorder (BIP) are debilitating neuropsychiatric disorders, collectively affecting 2% of the world’s population. Recognizing the major impact of these psychiatric disorders on the psychosocial function of more than 200 000 US Veterans, the Department of Veterans Affairs (VA) recently completed genotyping of more than 8000 veterans with SCZ and BIP in the Cooperative Studies Program (CSP) #572. Methods We performed genome-wide association studies (GWAS) in CSP #572 and benchmarked the predictive value of polygenic risk scores (PRS) constructed from published findings. We combined our results with available summary statistics from several recent GWAS, realizing the largest and most diverse studies of these disorders to date. Results Our primary GWAS uncovered new associations between CHD7 variants and SCZ, and novel BIP associations with variants in Sortilin Related VPS10 Domain Containing Receptor 3 (SORCS3) and downstream of PCDH11X. Combining our results with published summary statistics for SCZ yielded 39 novel susceptibility loci including CRHR1, and we identified 10 additional findings for BIP (28 326 cases and 90 570 controls). PRS trained on published GWAS were significantly associated with case-control status among European American (P < 10–30) and African American (P < .0005) participants in CSP #572. Conclusions We have demonstrated that published findings for SCZ and BIP are robustly generalizable to a diverse cohort of US veterans. Leveraging available summary statistics from GWAS of global populations, we report 52 new susceptibility loci and improved fine-mapping resolution for dozens of previously reported associations.


2021 ◽  
Vol 22 (6) ◽  
pp. 365-373
Author(s):  
Sofia Coelho Abreu ◽  
Valéria Tavares ◽  
Filipa Carneiro ◽  
Rui Medeiros

Aim & methods: To review the existing literature concerning the relationship between venous thromboembolism (VTE) and prostate cancer (PC) and explore the putative biological and clinical implications of VTE genetic markers on PC patients by screening the PubMed database. Results: Considering the roles of VTE genome-wide association studies-identified genetic determinants in disease development in the general population, these variants might also underlie the susceptibility for PC-related VTE. Therefore, they could help to identify those with a positive benefit-to-harm ratio for thromboprophylaxis approaches during cancer therapy management, thereby improving patient’s prognosis. Conclusion: Future studies are mandatory to explore the relationship between VTE and PC and dissect the predictive value of VTE genome-wide association studies-identified genetic determinants in PC patients, given their clinical implications.


2016 ◽  
Author(s):  
Liping Hou ◽  
Sarah E. Bergen ◽  
Nirmala Akula ◽  
Jie Song ◽  
Christina M. Hultman ◽  
...  

ABSTRACTBipolar disorder (BD) is a genetically complex mental illness characterized by severe oscillations of mood and behavior. Genome-wide association studies (GWAS) have identified several risk loci that together account for a small portion of the heritability. To identify additional risk loci, we performed a two-stage meta-analysis of >9 million genetic variants in 9,784 bipolar disorder patients and 30,471 controls, the largest GWAS of BD to date. In this study, to increase power we used ~2,000 lithium-treated cases with a long-term diagnosis of BD from the Consortium on Lithium Genetics, excess controls, and analytic methods optimized for markers on the X-chromosome. In addition to four known loci, results revealed genome-wide significant associations at two novel loci: an intergenic region on 9p21.3 (rs12553324, p = 5.87×10−9; odds ratio = 1.12) and markers within ERBB2 (rs2517959, p = 4.53×10−9; odds ratio = 1.13). No significant X-chromosome associations were detected and X-linked markers explained very little BD heritability. The results add to a growing list of common autosomal variants involved in BD and illustrate the power of comparing well-characterized cases to an excess of controls in GWAS.


2009 ◽  
Vol 14 (4) ◽  
pp. 351-353 ◽  
Author(s):  
H M Ollila ◽  
P Soronen ◽  
K Silander ◽  
O M Palo ◽  
T Kieseppä ◽  
...  

2008 ◽  
Vol 13 (5) ◽  
pp. 466-467 ◽  
Author(s):  
A E Baum ◽  
M Hamshere ◽  
E Green ◽  
S Cichon ◽  
M Rietschel ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document