Citations 2
Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed
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Science | July 16, 2026 | Volume: 393 | Issue: 6808 | Pages: No page available
Most genetic variants associated with complex traits are hypothesized to regulate gene expression. To understand the genetics underlying gene expression variability, we characterized 14,324 RNA-sequencing samples from the Trans-Omics for Precision Medicine program and performed expression and splicing quantitative trait locus (e/sQTL) analyses in six tissues and cell types, including whole blood ( n = 6454) and lung ( n = 1291). We detected tens of thousands of secondary cis-e/sQTLs, showing that secondary cis-e/sQTL discovery remains unsaturated. We fine-mapped UK Biobank–derived genome-wide association study (GWAS) signals from 164 traits and identified e/sQTL colocalizations for 10,611 GWAS signals, including 7096 that colocalize with secondary e/sQTLs. Our results suggest that even larger e/sQTL analyses will uncover additional secondary e/sQTLs, further benefiting GWAS interpretation.
A large-scale multi-ethnic genome-wide association study of coronary artery disease
Tcheandjieu, Catherine , Zhu, Xiang , Clarke, Shoa L. , Lee, Kyung Min , Chen, Fei , Pyarajan, Saiju , Song, Rebecca J. , Plomondon, Mary E. , Waldo, Stephen W. , Sinnott-Armstrong, Nasa , Wojcik, Genevieve L. , Haessler, Jeffrey, Do, Ron , North, Kari, Haiman, Christopher, Bis, Joshua, Shen, Botong, Lange, Leslie A., Lu, Yingchang , Stanaway, Ian B. , Hebbring, Scott J. , Namjou, Bahram , Kaufman, Kenneth M. , Kamatani, Yoichiro, Ritchie, Marylyn D. , Baras, Aris , Natarajan, Pradeep , Raghavan, Sridharan , Lee, Jennifer , Tang, Hua, Sun, Yan V. , O’Donnell, Christopher J. , Kathiresan, Sekar , Saleheen, Danish , Gaziano, J. Michael , Reaven, Peter D. , Cho, Kelly , Graff, Mariaelisa , Huang, Jie , Clarke, Shoa L , Do, Ron , Natarajan, Pradeep , Min Lee, Kyung , Assimes, Themistocles L. , Hilliard, Austin T. , Napolioni, Valerio , Ma, Shining , Fang, Huaying , Gorman, Bryan R. , Maddox, Thomas M , Ho, Yuk-Lam Anne , Buyske, Steven , Kooperberg, Charles , Loos, Ruth J. F. , Verbanck, Marie , Chaudhary, Kumardeep , Avery, Christy L. , Marchand, Loı̈c Le , Wilkens, Lynne R. , Leonard, Hampton L. , Giri, Ayush , Dikilitas, Ozan , Kullo, Iftikhar J. , Jarvik, Gail P. , Gordon, Adam, Koyama, Satoshi , Ito, Kaoru , Ishigaki, Kazuyoshi , Kamatani, Yoichiro, Tsao, Noah L. , Verma, Shefali S. , Kember, Rachel L. , Lotta, Luca Andrea , Levin, Michael G. , Hauser, Elizabeth R. , Miller, Donald Ray , Vujković, Marijana , Huffman, Jennifer E. , Klarin, Derek , Voight, Benjamin F. , Rader, Daniel J , Chang, Kyong‐Mi , Damrauer, Scott M , Lynch, Julie A. , Wilson, Peter W.F. , Tsao, Philip S. , Bick, Alexander G.
No container title available | March 10, 2021 | Volume: No volume available | Issue: No issue available | Pages: No page available
Abstract Coronary artery disease (CAD) is a leading cause of death, yet its genetic determinants are not fully elucidated. We report a multi-ethnic genome-wide association study of CAD involving nearly a quarter of a million cases, incorporating the largest cohorts to date of Whites, Blacks, and Hispanics from the Million Veteran Program with existing studies including CARDIoGRAMplusC4D, UK Biobank, and Biobank Japan. We verify substantial and nearly equivalent heritability of CAD across multiple ancestral groups, discover 107 novel loci including the first nine on the X-chromosome, identify the first eight genome-wide significant loci among Blacks and Hispanics, and demonstrate that two common haplotypes are largely responsible for the risk stratification at the well-known 9p21 locus in most populations except those of African origin where both haplotypes are virtually absent. We identify 15 loci for angiographically derived burden of coronary atherosclerosis, which robustly overlap with the strongest and earliest loci reported to date for clinical CAD. Phenome-wide association analyses of novel loci and externally validated polygenic risk scores (PRS) augment signals from the insulin resistance cluster of risk factors and consequences, extend previously established pleiotropic associations of loci with traditional risk factors to include smoking and family history, and confirm a substantially reduced transferability of existing PRS to Blacks. Downstream integrative genomic analyses reinforce the critical role of endothelial, fibroblast, and smooth muscle cells within the coronary vessel wall in CAD susceptibility. Our study highlights the value of a multi-ethnic design in efficiently characterizing the genetic architecture of CAD across all human populations.