scholarly journals Genome-wide association and functional interrogation identified a variant at 3p26.1 modulating ovarian cancer survival among Chinese women

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Hongji Dai ◽  
Xinlei Chu ◽  
Qian Liang ◽  
Mengyun Wang ◽  
Lian Li ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Long Range ◽  
Genome Wide Association Study ◽  
Cancer Survival ◽  
Genetic Locus ◽  
Regulatory Region ◽  
Genome Wide Association ◽  
Genome Wide ◽  
A Genome ◽  
Ovarian Cancer Survival

AbstractOvarian cancer survival varies considerably among patients, to which germline variation may also contribute in addition to mutational signatures. To identify genetic markers modulating ovarian cancer outcome, we performed a genome-wide association study in 2130 Chinese ovarian cancer patients and found a hitherto unrecognized locus at 3p26.1 to be associated with the overall survival (Pcombined = 8.90 × 10−10). Subsequent statistical fine-mapping, functional annotation, and eQTL mapping prioritized a likely casual SNP rs9311399 in the non-coding regulatory region. Mechanistically, rs9311399 altered its enhancer activity through an allele-specific transcription factor binding and a long-range interaction with the promoter of a lncRNA BHLHE40-AS1. Deletion of the rs9311399-associated enhancer resulted in expression changes in several oncogenic signaling pathway genes and a decrease in tumor growth. Thus, we have identified a novel genetic locus that is associated with ovarian cancer survival possibly through a long-range gene regulation of oncogenic pathways.

scholarly journals Correction: Novel Genetic Locus Implicated for HIV-1 Acquisition with Putative Regulatory Links to HIV Replication and Infectivity: A Genome-Wide Association Study

PLoS ONE ◽  
2015 ◽  
Vol 10 (5) ◽  
pp. e0129671
Author(s):  
Eric O. Johnson ◽  
Dana B. Hancock ◽  
Nathan C. Gaddis ◽  
Joshua L. Levy ◽  
Grier Page ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Genetic Locus ◽  
Genome Wide Association ◽  
Hiv Replication ◽  
Genome Wide ◽  
A Genome ◽  
Hiv 1

Replication of results of a genome-wide association study on lung cancer survival in a Korean population

2014 ◽  
Vol 207 (1-2) ◽  
pp. 35-39.e2 ◽  
Author(s):  
Seung Soo Yoo ◽  
Mi Jeong Hong ◽  
Hyo-Sung Jeon ◽  
Won Kee Lee ◽  
Shin Yup Lee ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Cancer Survival ◽  
Genome Wide Association ◽  
Korean Population ◽  
Genome Wide ◽  
A Genome ◽  
Lung Cancer Survival

scholarly journals Genome-wide association study of early-onset bipolar I disorder in the Han Taiwanese population

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Lawrence Shih-Hsin Wu ◽  
Ming-Chyi Huang ◽  
Cathy Shen-Jang Fann ◽  
Hsien-Yuan Lane ◽  
Chian-Jue Kuo ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Association Study ◽  
Early Onset ◽  
Genome Wide Association Study ◽  
Genetic Locus ◽  
Meta Analysis ◽  
Genome Wide Association ◽  
Genome Wide ◽  
A Genome ◽  
Chinese Descent

AbstractThe search for susceptibility genes underlying the heterogeneous bipolar disorder has been inconclusive, often with irreproducible results. There is a hope that narrowing the phenotypes will increase the power of genetic analysis. Early-onset bipolar disorder is thought to be a genetically homogeneous subtype with greater symptom severity. We conducted a genome-wide association study (GWAS) for this subtype in bipolar I (BPI) disorder. Study participants included 1779 patients of Han Chinese descent with BPI disorder recruited by the Taiwan Bipolar Consortium. We conducted phenotype assessment using the Chinese version of the Schedules for Clinical Assessment in Neuropsychiatry and prepared a life chart with graphic depiction of lifetime clinical course for each of the BPI patient recruited. The assessment of onset age was based on this life chart with early onset defined as ≤20 years of age. We performed GWAS in a discovery group of 516 early-onset and 790 non-early-onset BPI patients, followed by a replication study in an independent group of 153 early-onset and 320 non-early-onset BPI patients and a meta-analysis with these two groups. The SNP rs11127876, located in the intron of CADM2, showed association with early-onset BPI in the discovery cohort (P = 7.04 × 10−8) and in the test of replication (P = 0.0354). After meta-analysis, this SNP was demonstrated to be a new genetic locus in CADM2 gene associated with early-onset BPI disorder (P = 5.19 × 10−8).

scholarly journals Novel Genetic Locus Implicated for HIV-1 Acquisition with Putative Regulatory Links to HIV Replication and Infectivity: A Genome-Wide Association Study

PLoS ONE ◽  
2015 ◽  
Vol 10 (3) ◽  
pp. e0118149 ◽  
Author(s):  
Eric O. Johnson ◽  
Dana B. Hancock ◽  
Nathan C. Gaddis ◽  
Joshua L. Levy ◽  
Grier Page ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Genetic Locus ◽  
Genome Wide Association ◽  
Hiv Replication ◽  
Genome Wide ◽  
A Genome ◽  
Hiv 1

scholarly journals A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24

2010 ◽  
Vol 42 (10) ◽  
pp. 874-879 ◽  
Author(s):  
Ellen L Goode ◽  
◽  
Georgia Chenevix-Trench ◽  
Honglin Song ◽  
Susan J Ramus ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Susceptibility Loci ◽  
Genome Wide ◽  
A Genome

Genome-wide association study of patients with atrioventricular nodal reentry tachycardia

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
L Andreasen ◽  
G Ahlberg ◽  
J Hartmann ◽  
C Paludan-Mueller ◽  
H.K Jensen ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Electrophysiological Study ◽  
Genetic Locus ◽  
Disease Onset ◽  
Genome Wide Association ◽  
Funding Source ◽  
Genome Wide ◽  
A Genome ◽  
Reentry Tachycardia

Abstract Background Supraventricular tachycardias (SVTs) originate from the atria or the area close to the AV node. AV nodal reentry tachycardia (AVNRT) is one of the tachyarrhytmias comprising the group of SVTs. The typical patient is female, young at disease onset, with a structurally normal heart. At present we do not know the etiology of AVNRT. We therefore hypothesized that AVNRT might be caused by changes in the DNA. Methods DNA from purified blood was obtained from patients with AVNRT verified by an invasive electrophysiological study. Patients were recruited from five ablation centers in Denmark and individuals from the general population of Denmark (the BEFUS cohort) served as controls. DNA was subjected to chip genotyping, imputation and analyses in a genome-wide association study (GWAS) setup. Results A GWAS on 1,143 AVNRT patients and 3,004 controls revealed one locus close to the gene MYH6 to reach genome-wide significance for association with AVNRT (P=4.8x10–8). MYH6 encodes the α-isoform of the protein myosin heavy chain important for the contractile units of the heart, the sarcomeres. The gene is predominantly expressed in the atria. Additional subthreshold loci located close to other plausible arrhythmia genes were identified. Conclusion We report the first genetic locus to be associated with AVNRT close to the sarcomere gene MYH6. This is, to our knowledge, the first gene ever associated with AVNRT. Manhattan plot Funding Acknowledgement Type of funding source: Public hospital(s). Main funding source(s): Rigshospitalets Forskningspulje - 3 years PhD salary

Sign in / Sign up

Export Citation Format

Share Document