| Title |
Enhanced Identification of Potential Pleiotropic Genetic Variants for Bone Mineral Density and Breast Cancer
|
|---|---|
| Published in |
Calcified Tissue International, July 2017
|
| DOI | 10.1007/s00223-017-0308-x |
| Pubmed ID | |
| Authors |
Cheng Peng, Hui-Ling Lou, Feng Liu, Jie Shen, Xu Lin, Chun-Ping Zeng, Ji-Rong Long, Kuan-Jui Su, Lan Zhang, Jonathan Greenbaum, Wei-Feng Deng, Yu-Mei Li, Hong-Wen Deng |
| Abstract |
Epidemiological and clinical evidences have shown that bone mineral density (BMD) has a close relationship with breast cancer (BC). They might potentially have a shared genetic basis. By incorporating information about these pleiotropic effects, we may be able to explore more of the traits' total heritability. We applied a recently developed conditional false discovery rate (cFDR) method to the summary statistics from two independent GWASs to identify the potential pleiotropic genetic variants for BMD and BC. By jointly analyzing two large independent GWASs of BMD and BC, we found strong pleiotropic enrichment between them and identified 102 single-nucleotide polymorphisms (SNPs) in BMD and 192 SNPs in BC with cFDR < 0.05, including 230 SNPs that might have been overlooked by the standard GWAS analysis. cFDR-significant genes were enriched in GO terms and KEGG pathways which were crucial to bone metabolism and/or BC pathology (adjP < 0.05). Some cFDR-significant genes were partially validated in the gene expressional validation assay. Strong interactions were found between proteins produced by cFDR-significant genes in the context of biological mechanism of bone metabolism and/or BC etiology. Totally, we identified 7 pleiotropic SNPs that were associated with both BMD and BC (conjunction cFDR < 0.05); CCDC170, ESR1, RANKL, CPED1, and MEOX1 might play important roles in the pleiotropy of BMD and BC. Our study highlighted the significant pleiotropy between BMD and BC and shed novel insight into trait-specific as well as the potentially shared genetic architecture for both BMD and BC. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 33% |
| Netherlands | 1 | 33% |
| Unknown | 1 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Scientists | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 16 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 16 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 3 | 19% |
| Researcher | 3 | 19% |
| Student > Ph. D. Student | 3 | 19% |
| Lecturer | 1 | 6% |
| Student > Doctoral Student | 1 | 6% |
| Other | 2 | 13% |
| Unknown | 3 | 19% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 5 | 31% |
| Medicine and Dentistry | 3 | 19% |
| Social Sciences | 2 | 13% |
| Agricultural and Biological Sciences | 1 | 6% |
| Philosophy | 1 | 6% |
| Other | 1 | 6% |
| Unknown | 3 | 19% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 01 November 2017.
All research outputs
#15,985,273
of 25,732,188 outputs
Outputs from Calcified Tissue International
#1,316
of 1,890 outputs
Outputs of similar age
#180,645
of 327,938 outputs
Outputs of similar age from Calcified Tissue International
#13
of 17 outputs
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