ArticleCalcified tissue international2017
Enhanced Identification of Potential Pleiotropic Genetic Variants for Bone Mineral Density and Breast Cancer.
Article in Calcified tissue international, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Whole-exome sequencing of FFPE samples reveals mutations associated with Luminal A breast cancer recurrence.BMC biotechnology · 2025Article
- From function to translation: Decoding genetic susceptibility to human diseases via artificial intelligence.Cell genomics · 2023Review
- Relationship between rs7586085, GALNT3 and CCDC170 gene polymorphisms and the risk of osteoporosis among the Chinese Han population.Scientific reports · 2022Article
- Twelve years of GWAS discoveries for osteoporosis and related traits: advances, challenges and applications.Bone research · 2021Review
- Genetic Pleiotropy of Bone-Related Phenotypes: Insights from Osteoporosis.Current osteoporosis reports · 2020Review
- Identification of novel functional CpG-SNPs associated with type 2 diabetes and coronary artery disease.Molecular genetics and genomics : MGG · 2020Article
- Additional common variants associated with type 2 diabetes and coronary artery disease detected using a pleiotropic cFDR method.Journal of diabetes and its complications · 2018Article
- Identification of Novel Potentially Pleiotropic Variants Associated With Osteoporosis and Obesity Using the cFDR Method.The Journal of clinical endocrinology and metabolism · 2018Article
- Novel Common Variants Associated with Obesity and Type 2 Diabetes Detected Using a cFDR Method.Scientific reports · 2017Article
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Authors and funding
13 authors at 8 institutions in 2 countries.
Funding
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.
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