Citations
2 citation(s) found for "Wessel, Jennifer".
Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed
Blackwell, Thomas W., Kachuri, Linda , Castaldi, Peter J. , Cho, Michael H. , Christenson, Stephanie A. , Durda, Peter , Gabriel, Stacey , Hersh, Craig P. , Huntsman, Scott , Hwang, S.-J., Joehanes, Roby, Johnson, Mari , Li, Xingnan , Lin, Honghuang , Liu, Ching‐Ti , Liu, Yongmei , Mak, Angel C. Y. , Manichaikul, Ani , Paik, David T. , Saferali, Aabida , Smith, Joshua D. , Taylor, Kent D. , Wang, Jiongming , Weinstock, Joshua S. , Weiss, Jeffrey, Wheeler, Heather E. , Zhou, Ying , Zoellner, Sebastian, Mestroni, Luisa , Graw, Sharon , Taylor, Matthew R.G. , Ortega, Victor E. , Johnson, Craig , Gan, Weiniu , Abecasis, Gonçalo , Nickerson, Deborah A. , Ardlie, Kristin G., Woodruff, Prescott G. , Bowler, Russell P. , Meyers, Deborah A. , Reiner, Alex, Kooperberg, Charles , Ziv, Elad , Vasan, Ramachandran S. , Silverman, Edwin K. , Rich, Stephen S., Heard‐Costa, Nancy L. , Tang, Hua, Rotter, Jerome I. , Smith, Albert V. , Aguet, François, Scott, Laura J. , Raffield, Laura M. , Parker, Stephen C.J. , Abe, Namiko, Almasy, Laura, Ament, Seth, Anugu, Pramod, Auer, Paul, Avramopoulos, Dimitrios, Balasubramanian, Adithya, Barr, R. Graham, Barwick, Lucas, Beaty, Terri, Becker, Diane, Becker, Lewis, Beitelshees, Amber, Benos, Takis, Bezerra, Marcos, Bis, Joshua, Brody, Jennifer, Broeckel, Ulrich, Broome, Jai, Bunting, Karen, Buth, Erin, Carey, Vincent, Carty, Cara, Casaburi, Richard, Chaffin, Mark, Chang, Christy, Chang, Yi-Cheng, Chavan, Sameer, Chen, Bo-Juen, Chen, Wei-Min, Choi, Seung Hoan, Chuang, Lee-Ming, Chung, Ren-Hua, Conomos, Matthew, Cornell, Elaine, Crandall, Carolyn, Crapo, James, Curtis, Jeffrey, Damcott, Coleen, David, Sean, Fuentes, Lisa de las, Vries, Paul de, Deka, Ranjan, DeMeo, Dawn, Devine, Scott, Dinh, Huyen, Doddapaneni, Harsha, Duan, Qing, Duggirala, Ravi, Eaton, Charles, Ekunwe, Lynette, Boueiz, Adel El, Emery, Leslie, Farber, Charles, Farek, Jesse, Franceschini, Nora, Frazar, Chris, Fu, Mao, Fullerton, Stephanie M., Fulton, Lucinda, Gao, Shanshan, Gao, Yan, Gass, Margery, Geiger, Heather, Ghosh, Auyon, Gignoux, Chris, Glahn, David, Gogarten, Stephanie, Gong, Da-Wei, Goring, Harald, Grine, Daniel, Gu, C. Charles, Guan, Yue, Hall, Michael, Han, Yi, Harris, Daniel, Heavner, Ben, Herrington, David, Hobbs, Brian, Hong, Elliott, Hoth, Karin, Hsiung, Chao (Agnes), Hu, Jianhong, Hung, Yi-Jen, Huston, Haley, Hwu, Chii Min, Jackson, Rebecca, Jain, Deepti, Johnsen, Jill, Johnston, Rich, Jones, Kimberly, Kessler, Michael, Khan, Alyna, Khan, Ziad, Kim, Wonji, Kimoff, John, Kinney, Greg, Kramer, Holly, Lange, Christoph, Lange, Ethan, Laurie, Cathy, Laurie, Cecelia, LeBoff, Meryl, Lee, Sandra, Lee, Wen-Jane, Levine, David, Lewis, Joshua, Li, Yun, Lin, Xihong, Liu, Simin, Liu, Yu, Make, Barry, Manning, Alisa, Manson, JoAnn, Martin, Lisa, Marton, Melissa, Mathai, Susan, May, Susanne, McArdle, Patrick, McDonald, Merry-Lynn, McFarland, Sean, McGoldrick, Daniel, McHugh, Caitlin, Mei, Hao, Meigs, James, Menon, Vipin, Min, Nancy, Moll, Matt, Momin, Zeineen, Montasser, May, Mychaleckyj, Josyf C, Naik, Rakhi, Naseri, Take, Natarajan, Pradeep, Nelson, Sarah C., Neltner, Bonnie, Nessner, Caitlin, Nkechinyere, Osuji, O'Connell, Jeff, O’Connor, Tim, Ochs-Balcom, Heather, Okwuonu, Geoffrey, Pankow, James, Parker, Cora, Peloso, Gina, Peralta, Juan Manuel, Perez, Marco, Perry, James, Peters, Ulrike, Phillips, Lawrence S, Pollin, Toni, Becker, Julia Powers, Boorgula, Meher Preethi, Psaty, Bruce, Qiao, Dandi, Rafaels, Nicholas, Rajendran, Mahitha, Rasmussen-Torvik, Laura, Ratan, Aakrosh, Reed, Robert, Regan, Elizabeth, Reupena, Muagututi‘a Sefuiva, Robillard, Rebecca, Roselli, Carolina, Ruczinski, Ingo, Runnels, Alexi, Russell, Pamela, Ryan, Kathleen, Sabino, Ester Cerdeira, Salimi, Shabnam, Salvi, Sejal, Salzberg, Steven, Sandow, Kevin, Santibanez, Jireh, Schwander, Karen, Sciurba, Frank, Sériès, Frédéric, Shetty, Amol, Shetty, Aniket, Silver, Brian, Skomro, Robert, Smith, Tanja, Smoller, Sylvia, Snively, Beverly, Stilp, Adrienne M., Storm, Garrett, Streeten, Elizabeth, Su, Jessica Lasky, Sung, Yun Ju, Sylvia, Jody, Szpiro, Adam, Taub, Margaret, Taylor, Simeon, Thornton, Timothy A., Threlkeld, Machiko, Tinker, Lesley, Tirschwell, David, Tiwari, Hemant, Tong, Catherine, Tsai, Michael, Vaidya, Dhananjay, Walker, Tarik, Wallace, Robert, Walts, Avram, Wang, Fei Fei, Wang, Heming, Watson, Karol, Watt, Jennifer, Weng, Lu-Chen, Wessel, Jennifer, Williams, Kayleen, Wilson, Carla, Wilson, James, Winterkorn, Lara, Wong, Quenna, Wu, Baojun, Xu, Huichun, Yanek, Lisa, Yang, Ivana, Zekavat, Seyedeh Maryam, Zhao, Snow Xueyan, Zhao, Wei, Zhu, Xiaofeng, Rich, Stephen S. , Pankow, James S. , Reiner, Alex P. , Aguet, François , Johnson, W. Craig , Ardlie, Kristin , Orchard, Peter , Kachuri, Linda , Castaldi, Peter J , Cho, Michael H , Christenson, Stephanie A , Durda, Peter , Hersh, Craig P , Huntsman, Scott , Hwang, Seungyong , Joehanes, Roby , Johnson, Mari , Li, Xingnan , Lin, Honghuang , Liu, Ching-Ti , Liu, Yongmei , Mak, Angel C Y , Manichaikul, Ani W , Paik, David T , Smith, Joshua D , Taylor, Kent D , Tracy, Russell P , Wang, Jiongming , Wang, Mingqiang , Weinstock, Joshua S , Weiss, Jeffrey , Wheeler, Heather E , Zhou, Ying , Zöllner, Sebastian , Wu, Joseph C , Mestroni, Luisa , Graw, Sharon , Taylor, Matthew R G , Ortega, Victor E , Johnson, W Craig , Gan, Weiniu , Gupta, Namrata , Ardlie, Kristin , Woodruff, Prescott G , Bowler, Russell P , Reiner, Alexander P , Kooperberg, Charles , Ziv, Elad , Vasan, Ramachandran S , Silverman, Edwin K , Rich, Stephen S , Heard-Costa, Nancy , Tang, Hua , Rotter, Jerome I , Smith, Albert V , Levy, Daniel , Aguet, François , Scott, Laura J , Raffield, Laura M , Parker, Stephen C J , Pankow, James S , Tracy, Russell P. , Wu, Joseph C. , Larson, Martin G. , Cupples, L. Adrienne , Abe, Namiko, Almasy, Laura, Ament, Seth, Anugu, Pramod, Auer, Paul, Avramopoulos, Dimitrios, Balasubramanian, Adithya, Barr, R. Graham, Barwick, Lucas, Beaty, Terri, Becker, Diane, Becker, Lewis, Beitelshees, Amber, Benos, Takis, Bezerra, Marcos, Bis, Joshua, Brody, Jennifer, Broeckel, Ulrich, Broome, Jai, Bunting, Karen, Buth, Erin, Carey, Vincent, Carty, Cara, Casaburi, Richard, Chaffin, Mark, Chang, Christy, Chang, Yi-Cheng, Chavan, Sameer, Chen, Bo-Juen, Chen, Wei-Min, Choi, Seung Hoan , Chuang, Lee-Ming, Chung, Ren-Hua, Conomos, Matthew, Cornell, Elaine, Crandall, Carolyn, Crapo, James, Curtis, Jeffrey, Damcott, Coleen, David, Sean, Fuentes, Lisa de las, Vries, Paul de, Deka, Ranjan, DeMeo, Dawn, Devine, Scott, Dinh, Huyen, Doddapaneni, Harsha, Duan, Qing, Duggirala, Ravi, Eaton, Charles, Ekunwe, Lynette, Boueiz, Adel El, Emery, Leslie, Farber, Charles, Farek, Jesse, Franceschini, Nora, Frazar, Chris, Fu, Mao, Fullerton, Stephanie M., Fulton, Lucinda, Gao, Shanshan, Gao, Yan, Gass, Margery, Geiger, Heather, Ghosh, Auyon, Gignoux, Chris, Glahn, David, Gogarten, Stephanie, Gong, Da-Wei, Goring, Harald, Grine, Daniel, Gu, C. Charles, Guan, Yue, Hall, Michael, Han, Yi, Harris, Daniel, Heavner, Ben, Herrington, David, Hobbs, Brian, Hong, Elliott, Hoth, Karin, Hsiung, Chao (Agnes), Hu, Jianhong, Hung, Yi-Jen, Huston, Haley, Hwu, Chii Min, Jackson, Rebecca, Jain, Deepti, Johnsen, Jill, Johnston, Rich, Jones, Kimberly, Kessler, Michael, Khan, Alyna, Khan, Ziad, Kim, Wonji, Kimoff, John, Kinney, Greg, Kramer, Holly, Lange, Christoph, Lange, Ethan, Laurie, Cathy, Laurie, Cecelia, LeBoff, Meryl, Lee, Sandra, Lee, Wen-Jane, Levine, David, Lewis, Joshua, Li, Yun, Lin, Xihong, Liu, Simin, Liu, Yu, Make, Barry, Manning, Alisa, Manson, JoAnn, Martin, Lisa, Marton, Melissa, Mathai, Susan, May, Susanne, McArdle, Patrick, McDonald, Merry-Lynn, McFarland, Sean, McGoldrick, Daniel, McHugh, Caitlin, Mei, Hao, Meigs, James, Menon, Vipin, Min, Nancy, Moll, Matt, Momin, Zeineen, Montasser, May, Mychaleckyj, Josyf C, Naik, Rakhi, Naseri, Take, Natarajan, Pradeep, Nelson, Sarah C., Neltner, Bonnie, Nessner, Caitlin, Nkechinyere, Osuji, O'Connell, Jeff, O’Connor, Tim, Ochs-Balcom, Heather, Okwuonu, Geoffrey, Parker, Cora, Peloso, Gina, Peralta, Juan Manuel, Perez, Marco, Perry, James, Peters, Ulrike, Phillips, Lawrence S, Pollin, Toni, Becker, Julia Powers, Boorgula, Meher Preethi, Psaty, Bruce, Qiao, Dandi, Rafaels, Nicholas, Rajendran, Mahitha, Rasmussen-Torvik, Laura, Ratan, Aakrosh, Reed, Robert, Regan, Elizabeth, Reupena, Muagututi‘a Sefuiva, Robillard, Rebecca, Roselli, Carolina, Ruczinski, Ingo, Runnels, Alexi, Russell, Pamela, Ryan, Kathleen, Sabino, Ester Cerdeira, Salimi, Shabnam, Salvi, Sejal, Salzberg, Steven, Sandow, Kevin, Santibanez, Jireh, Schwander, Karen, Sciurba, Frank, Sériès, Frédéric , Shetty, Amol, Shetty, Aniket, Silver, Brian, Skomro, Robert, Smith, Tanja, Smoller, Sylvia, Snively, Beverly, Stilp, Adrienne M., Storm, Garrett, Streeten, Elizabeth, Su, Jessica Lasky, Sung, Yun Ju, Sylvia, Jody, Szpiro, Adam, Taub, Margaret, Taylor, Simeon, Thornton, Timothy A., Threlkeld, Machiko, Tinker, Lesley, Tirschwell, David, Tiwari, Hemant, Tong, Catherine, Tsai, Michael, Vaidya, Dhananjay, Walker, Tarik, Wallace, Robert, Walts, Avram, Wang, Fei Fei, Wang, Heming, Watson, Karol, Watt, Jennifer, Weng, Lu-Chen, Wessel, Jennifer, Williams, Kayleen, Wilson, Carla, Wilson, James, Winterkorn, Lara, Wong, Quenna, Wu, Baojun, Xu, Huichun, Yanek, Lisa, Yang, Ivana, Zekavat, Seyedeh Maryam, Zhao, Snow Xueyan, Zhao, Wei, Zhu, Xiaofeng
Science | July 16, 2026 | Volume: 393 | Issue: 6808 | Pages: No page available
10.1126/science.adx2989
| PMID 42462027
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.
SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function
Li, Man , Weeks, Olivia , Mijatovic, Vladan, Teumer, Alexander , Tromp, Gerard , Fuchsberger, Christian , Gorski, Mathias , Nutile, Teresa , Sedaghat, Sanaz , Sorice, Rossella , Arking, Dan E. , Bihlmeyer, Nathan A. , Böger, Carsten A., Carroll, Robert J. , Cornelis, Marilyn C., Faul, Jessica D. , Feitosa, Mary F. , Gambaro, Giovanni , Gasparini, Paolo , Giulianini, Franco, Heid, Iris M. , Huang, Jinyan , Imboden, Medea , Jeff, Janina M., Jhun, Min A., Katz, Ronit , Kifley, Annette , Kilpeläinen, Tuomas O. , Laakso, Markku , Li‐Gao, Ruifang , Lohman, Kurt, Lu, Yingchang , Mägi, Reedik , Mihailov, Evelin, Mohlke, Karen L. , Mook‐Kanamori, Dennis O. , Robino, Antonietta , Salvi, Erika , Schick, Ursula M., Schulz, Christina‐Alexandra , Smith, Albert V. , Traglia, Michela , Yerges-Armstrong, Laura M. , Goodarzi, Mark O. , Kraja, Aldi T., Wessel, Jennifer , Group,, CHARGE Glycemic-T2D Working, Group,, CHARGE Blood Pressure Working, Boerwinkle, Eric , Borecki, Ingrid B. , Bork‐Jensen, Jette , Böttinger, Erwin P. , Braga, Daniele , Brandslund, Ivan , Brody, Jennifer A. , Carey, David J. , Christensen, Cramer, Crook, Errol D., Boer, Ian H. de , Vries, Aiko P. J. de , Devuyst, Olivier , Dreisbach, Albert W. , Endlich, Karlhans , Franco, Oscar H. , Glümer, Charlotte , Gottesman, Omri, Grarup, Niels , Guðnason, Vilmundur , Harris, Tamara B., Hofman, Albert , Husemoen, Lise Lotte N. , Jackson, Rebecca D. , Jørgensen, Marit E. , Kähönen, Mika , Kardia, Sharon L. R., König, Wolfgang , Kriebel, Jennifer , Lauritzen, Torsten , Lehtimäki, Terho , Levy, Daniel , Linksted, Pamela , Loos, Ruth J. F. , Lupo, Antonio , Meisinger, Christine, Melander, Olle , Mitchell, Paul, Nauck, Matthias, Orho‐Melander, Marju , Parsa, Afshin, Pedersen, Oluf , Peters, Annette , Peters, Ulrike , Polašek, Ozren , Qi, Lu , Reiner, Alex P. , Rettig, Rainer, Ridker, Paul M., Rivadeneira, Fernando , Rossouw, Jacques E. , Schmidt, Frank , Soranzo, Nicole , Strauch, Konstantin , Toniolo, Daniela , Uitterlinden, André G. , Ulivi, Sheila , Velayutham, Dinesh , Völker, Uwe , Völzke, Henry , Waldenberger, Mélanie , Wang, Jie Jin , Weir, David R. , Witte, Daniel R. , Kuivaniemi, Helena , Fox, Caroline S., Franceschini, Nora , Goessling, Wolfram , Köttgen, Anna , Chu, Audrey Y., Rudan, Igor , Vasan, Ramachandran S. , Duijn, Cornelia M. van , Zhao, Wei , Padmanabhan, Sandosh , Lindgren, Cecilia M. , Franks, Paul W. , Weiß, Stefan , Langenberg, Claudia , Hattersley, Andrew T. , Turner, Stephen T. , Li, Yong , Huffman, Jennifer E. , Lyytikäinen, Leo‐Pekka , Tin, Adrienne , Yang, Qiong , Ahluwalia, Tarunveer S. , Chasman, Daniel I. , Dehghan, Abbas , Jackson, Anne , Kumar, Ashish , Malerba, Giovanni , Ruderfer, Douglas , Smith, Jennifer A. , Zhao, Wei , Liu, Chunyu , Group,, CHARGE Glycemic-T2D Working, Group,, CHARGE Blood Pressure Working, Campbell, Archie I , Coresh, Josef , Curhan, Gary C. , Cusi, Daniele , Denny, Joshua C. , Esko, Tõnu , Fülöp, Tibor , Gerhard, Glenn S. , Hansen, Torben , Hayward, Caroline , Hocking, Lynne J. , Hu, Frank B. , Jørgensen, Torben , Kooperberg, Charles , Launer, Lenore J. , Linneberg, Allan , Liu, Ching‐Ti , Meisinger, Christine, Metspalu, Andres , Nürnberg, Peter , Porteous, David John , Probst-Hensch, Nicole M , Psaty, Bruce M. , Raitakari, Olli Tuomas , Siscovick, David S. , Weiss, Stefan , Völker, Uwe , Teumer, Alexander , van Duijn, Cornelia M , Vasan, Ramachandran S , Smith, Albert V , Loos, Ruth J F , Li-Gao, Ruifang , Brody, Jennifer A , Padmanabhan, Sandosh , Levy, Daniel , de Vries, Aiko P J , Devuyst, Olivier; https://orcid.org/0000-0003-3744-4767
Journal of the American Society of Nephrology | December 5, 2016 | Volume: 28 | Issue: 3 | Pages: 981-994
10.1681/asn.2016020131
| PMID 27920155
Genome-wide association studies have identified >50 common variants associated with kidney function, but these variants do not fully explain the variation in eGFR. We performed a two-stage meta-analysis of associations between genotypes from the Illumina exome array and eGFR on the basis of serum creatinine (eGFRcrea) among participants of European ancestry from the CKDGen Consortium ( n Stage1 : 111,666; n Stage2 : 48,343). In single-variant analyses, we identified single nucleotide polymorphisms at seven new loci associated with eGFRcrea ( PPM1J , EDEM3, ACP1, SPEG, EYA4, CYP1A1 , and ATXN2L ; P Stage1 <3.7×10 −7 ), of which most were common and annotated as nonsynonymous variants. Gene-based analysis identified associations of functional rare variants in three genes with eGFRcrea, including a novel association with the SOS Ras/Rho guanine nucleotide exchange factor 2 gene, SOS2 ( P =5.4×10 −8 by sequence kernel association test). Experimental follow-up in zebrafish embryos revealed changes in glomerular gene expression and renal tubule morphology in the embryonic kidney of acp1- and sos2 -knockdowns. These developmental abnormalities associated with altered blood clearance rate and heightened prevalence of edema. This study expands the number of loci associated with kidney function and identifies novel genes with potential roles in kidney formation.