Colocalised Genetic Associations Reveal Alternative Splicing Variants as Candidate Causal Links for Breast Cancer Risk in 10 Loci
Abstract
:Simple Summary
Abstract
1. Introduction
2. Materials and Methods
2.1. Data Sources
2.2. Ancestry Analysis
2.3. RNA-Seq Analysis
2.4. Alternative Splicing Quantification
2.5. sQTL Analysis
2.6. Linkage Disequilibrium Analysis
2.7. Colocalisation Analysis
2.8. In Silico Splicing Analysis
2.9. eQTL Analysis
3. Results
3.1. Splicing QTL Hints at Underlying Gene Regulation
3.2. Colocalisation Implicates Splicing Modulation in Risk for BC at Ten Loci
3.3. Linking Risk Variants to Mechanism at Three Loci
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Besouro-Duarte, A.; Carrasqueiro, B.; Sousa, S.; Xavier, J.M.; Maia, A.-T. Colocalised Genetic Associations Reveal Alternative Splicing Variants as Candidate Causal Links for Breast Cancer Risk in 10 Loci. Cancers 2024, 16, 3020. https://doi.org/10.3390/cancers16173020
Besouro-Duarte A, Carrasqueiro B, Sousa S, Xavier JM, Maia A-T. Colocalised Genetic Associations Reveal Alternative Splicing Variants as Candidate Causal Links for Breast Cancer Risk in 10 Loci. Cancers. 2024; 16(17):3020. https://doi.org/10.3390/cancers16173020
Chicago/Turabian StyleBesouro-Duarte, André, Beatriz Carrasqueiro, Sofia Sousa, Joana M. Xavier, and Ana-Teresa Maia. 2024. "Colocalised Genetic Associations Reveal Alternative Splicing Variants as Candidate Causal Links for Breast Cancer Risk in 10 Loci" Cancers 16, no. 17: 3020. https://doi.org/10.3390/cancers16173020