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1. Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Author

Zaidi, Syed H, Harrison, Tabitha A, Phipps, Amanda I, Steinfelder, Robert, Trinh, Quang M, Qu, Conghui, Banbury, Barbara L, Georgeson, Peter, Grasso, Catherine S, Giannakis, Marios, Adams, Jeremy B, Alwers, Elizabeth, Amitay, Efrat L, Barfield, Richard T, Berndt, Sonja I, Borozan, Ivan, Brenner, Hermann, Brezina, Stefanie, Buchanan, Daniel D, Cao, Yin, Chan, Andrew T, Chang-Claude, Jenny, Connolly, Charles M, Drew, David A, Farris, Alton Brad, Figueiredo, Jane C, French, Amy J, Fuchs, Charles S, Garraway, Levi A, Gruber, Steve, Guinter, Mark A, Hamilton, Stanley R, Harlid, Sophia, Heisler, Lawrence E, Hidaka, Akihisa, Hopper, John L, Huang, Wen-Yi, Huyghe, Jeroen R, Jenkins, Mark A, Krzyzanowski, Paul M, Lemire, Mathieu, Lin, Yi, Luo, Xuemei, Mardis, Elaine R, McPherson, John D, Miller, Jessica K, Moreno, Victor, Mu, Xinmeng Jasmine, Nishihara, Reiko, Papadopoulos, Nickolas, Pasternack, Danielle, Quist, Michael J, Rafikova, Adilya, Reid, Emma EG, Shinbrot, Eve, Shirts, Brian H, Stein, Lincoln D, Teney, Cherie D, Timms, Lee, Um, Caroline Y, Van Guelpen, Bethany, Van Tassel, Megan, Wang, Xiaolong, Wheeler, David A, Yung, Christina K, Hsu, Li, Ogino, Shuji, Gsur, Andrea, Newcomb, Polly A, Gallinger, Steven, Hoffmeister, Michael, Campbell, Peter T, Thibodeau, Stephen N, Sun, Wei, Hudson, Thomas J, and Peters, Ulrike

Abstract

Colorectal cancer (CRC) is a biologically heterogeneous disease. To characterize its mutational profile, we conduct targeted sequencing of 205 genes for 2,105 CRC cases with survival data. Our data shows several findings in addition to enhancing the existing knowledge of CRC. We identify PRKCI, SPZ1, MUTYH, MAP2K4, FETUB, and TGFBR2 as additional genes significantly mutated in CRC. We find that among hypermutated tumors, an increased mutation burden is associated with improved CRC-specific survival (HR = 0.42, 95% CI: 0.21-0.82). Mutations in TP53 are associated with poorer CRC-specific survival, which is most pronounced in cases carrying TP53 mutations with predicted 0% transcriptional activity (HR = 1.53, 95% CI: 1.21-1.94). Furthermore, we observe differences in mutational frequency of several genes and pathways by tumor location, stage, and sex. Overall, this large study provides deep insights into somatic mutations in CRC, and their potential relationships with survival and tumor features.

Published
2020

2. Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

Author

Bien, Stephanie A., Su, Yu-Ru, Conti, David V., Harrison, Tabitha A., Qu, Conghui, Guo, Xingyi, Lu, Yingchang, Albanes, Demetrius, Auer, Paul L., Banbury, Barbara L., Berndt, Sonja I., Bézieau, Stéphane, Brenner, Hermann, Buchanan, Daniel D., Caan, Bette J., Campbell, Peter T., Carlson, Christopher S., Chan, Andrew T., Chang-Claude, Jenny, Chen, Sai, Connolly, Charles M., Easton, Douglas F., Feskens, Edith J. M., Gallinger, Steven, Giles, Graham G., Gunter, Marc J., Hampe, Jochen, Huyghe, Jeroen R., Hoffmeister, Michael, Hudson, Thomas J., Jacobs, Eric J., Jenkins, Mark A., Kampman, Ellen, Kang, Hyun Min, Kühn, Tilman, Küry, Sébastien, Lejbkowicz, Flavio, Le Marchand, Loic, Milne, Roger L., Li, Li, Li, Christopher I., Lindblom, Annika, Lindor, Noralane M., Martín, Vicente, McNeil, Caroline E., Melas, Marilena, Moreno, Victor, Newcomb, Polly A., Offit, Kenneth, Pharaoh, Paul D. P., Potter, John D., Qu, Chenxu, Riboli, Elio, Rennert, Gad, Sala, Núria, Schafmayer, Clemens, Scacheri, Peter C., Schmit, Stephanie L., Severi, Gianluca, Slattery, Martha L., Smith, Joshua D., Trichopoulou, Antonia, Tumino, Rosario, Ulrich, Cornelia M., van Duijnhoven, Fränzel J. B., Van Guelpen, Bethany, Weinstein, Stephanie J., White, Emily, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Abecasis, Goncalo R., Casey, Graham, Nickerson, Deborah A., Gruber, Stephen B., Hsu, Li, Zheng, Wei, and Peters, Ulrike

Published
2019
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3. Discovery of common and rare genetic risk variants for colorectal cancer

Author

Huyghe, Jeroen R., Bien, Stephanie A., Harrison, Tabitha A., Kang, Hyun Min, Chen, Sai, Schmit, Stephanie L., Conti, David V., Qu, Conghui, Jeon, Jihyoun, Edlund, Christopher K., Greenside, Peyton, Wainberg, Michael, Schumacher, Fredrick R., Smith, Joshua D., Levine, David M., Nelson, Sarah C., Sinnott-Armstrong, Nasa A., Albanes, Demetrius, Alonso, M. Henar, Anderson, Kristin, Arnau-Collell, Coral, Arndt, Volker, Bamia, Christina, Banbury, Barbara L., Baron, John A., Berndt, Sonja I., Bézieau, Stéphane, Bishop, D. Timothy, Boehm, Juergen, Boeing, Heiner, Brenner, Hermann, Brezina, Stefanie, Buch, Stephan, Buchanan, Daniel D., Burnett-Hartman, Andrea, Butterbach, Katja, Caan, Bette J., Campbell, Peter T., Carlson, Christopher S., Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Chanock, Stephen J., Chirlaque, Maria-Dolores, Cho, Sang Hee, Connolly, Charles M., Cross, Amanda J., Cuk, Katarina, Curtis, Keith R., de la Chapelle, Albert, Doheny, Kimberly F., Duggan, David, Easton, Douglas F., Elias, Sjoerd G., Elliott, Faye, English, Dallas R., Feskens, Edith J. M., Figueiredo, Jane C., Fischer, Rocky, FitzGerald, Liesel M., Forman, David, Gala, Manish, Gallinger, Steven, Gauderman, W. James, Giles, Graham G., Gillanders, Elizabeth, Gong, Jian, Goodman, Phyllis J., Grady, William M., Grove, John S., Gsur, Andrea, Gunter, Marc J., Haile, Robert W., Hampe, Jochen, Hampel, Heather, Harlid, Sophia, Hayes, Richard B., Hofer, Philipp, Hoffmeister, Michael, Hopper, John L., Hsu, Wan-Ling, Huang, Wen-Yi, Hudson, Thomas J., Hunter, David J., Ibañez-Sanz, Gemma, Idos, Gregory E., Ingersoll, Roxann, Jackson, Rebecca D., Jacobs, Eric J., Jenkins, Mark A., Joshi, Amit D., Joshu, Corinne E., Keku, Temitope O., Key, Timothy J., Kim, Hyeong Rok, Kobayashi, Emiko, Kolonel, Laurence N., Kooperberg, Charles, Kühn, Tilman, Küry, Sébastien, Kweon, Sun-Seog, Larsson, Susanna C., Laurie, Cecelia A., Le Marchand, Loic, Leal, Suzanne M., Lee, Soo Chin, Lejbkowicz, Flavio, Lemire, Mathieu, Li, Christopher I., Li, Li, Lieb, Wolfgang, Lin, Yi, Lindblom, Annika, Lindor, Noralane M., Ling, Hua, Louie, Tin L., Männistö, Satu, Markowitz, Sanford D., Martín, Vicente, Masala, Giovanna, McNeil, Caroline E., Melas, Marilena, Milne, Roger L., Moreno, Lorena, Murphy, Neil, Myte, Robin, Naccarati, Alessio, Newcomb, Polly A., Offit, Kenneth, Ogino, Shuji, Onland-Moret, N. Charlotte, Pardini, Barbara, Parfrey, Patrick S., Pearlman, Rachel, Perduca, Vittorio, Pharoah, Paul D. P., Pinchev, Mila, Platz, Elizabeth A., Prentice, Ross L., Pugh, Elizabeth, Raskin, Leon, Rennert, Gad, Rennert, Hedy S., Riboli, Elio, Rodríguez-Barranco, Miguel, Romm, Jane, Sakoda, Lori C., Schafmayer, Clemens, Schoen, Robert E., Seminara, Daniela, Shah, Mitul, Shelford, Tameka, Shin, Min-Ho, Shulman, Katerina, Sieri, Sabina, Slattery, Martha L., Southey, Melissa C., Stadler, Zsofia K., Stegmaier, Christa, Su, Yu-Ru, Tangen, Catherine M., Thibodeau, Stephen N., Thomas, Duncan C., Thomas, Sushma S., Toland, Amanda E., Trichopoulou, Antonia, Ulrich, Cornelia M., Van Den Berg, David J., van Duijnhoven, Franzel J. B., Van Guelpen, Bethany, van Kranen, Henk, Vijai, Joseph, Visvanathan, Kala, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Weigl, Korbinian, Weinstein, Stephanie J., White, Emily, Win, Aung Ko, Wolf, C. Roland, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Zaidi, Syed H., Zanke, Brent W., Zhang, Qing, Zheng, Wei, Scacheri, Peter C., Potter, John D., Bassik, Michael C., Kundaje, Anshul, Casey, Graham, Moreno, Victor, Abecasis, Goncalo R., Nickerson, Deborah A., Gruber, Stephen B., Hsu, Li, and Peters, Ulrike

Published
2019
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4. Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

Author

Bien, Stephanie A., Su, Yu-Ru, Conti, David V., Harrison, Tabitha A., Qu, Conghui, Guo, Xingyi, Lu, Yingchang, Albanes, Demetrius, Auer, Paul L., Banbury, Barbara L., Berndt, Sonja I., Bézieau, Stéphane, Brenner, Hermann, Buchanan, Daniel D., Caan, Bette J., Campbell, Peter T., Carlson, Christopher S., Chan, Andrew T., Chang-Claude, Jenny, Chen, Sai, Connolly, Charles M., Easton, Douglas F., Feskens, Edith J. M., Gallinger, Steven, Giles, Graham G., Gunter, Marc J., Hampe, Jochen, Huyghe, Jeroen R., Hoffmeister, Michael, Hudson, Thomas J., Jacobs, Eric J., Jenkins, Mark A., Kampman, Ellen, Kang, Hyun Min, Kühn, Tilman, Küry, Sébastien, Lejbkowicz, Flavio, Le Marchand, Loic, Milne, Roger L., Li, Li, Li, Christopher I., Lindblom, Annika, Lindor, Noralane M., Martín, Vicente, McNeil, Caroline E., Melas, Marilena, Moreno, Victor, Newcomb, Polly A., Offit, Kenneth, Pharaoh, Paul D. P., Potter, John D., Qu, Chenxu, Riboli, Elio, Rennert, Gad, Sala, Núria, Schafmayer, Clemens, Scacheri, Peter C., Schmit, Stephanie L., Severi, Gianluca, Slattery, Martha L., Smith, Joshua D., Trichopoulou, Antonia, Tumino, Rosario, Ulrich, Cornelia M., van Duijnhoven, Fränzel J. B., Van Guelpen, Bethany, Weinstein, Stephanie J., White, Emily, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Abeçasis, Goncalo R., Casey, Graham, Nickerson, Deborah A., Gruber, Stephen B., Hsu, Li, Zheng, Wei, and Peters, Ulrike

Published
2019
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5. RNA polymerase III interferes with Ty3 integration

Author

Connolly, Charles M and Sandmeyer, Suzanne B

Subjects
Genetics, RNA Polymerase III, RNA, Transfer, RNA-Binding Proteins, Retroelements, Saccharomyces cerevisiae, Transcription, Genetic, Virus Integration, integration, retrovirus, RNA polymerase III, transposable element, tRNA gene, Ty3, Medicinal and Biomolecular Chemistry, Biochemistry and Cell Biology, Evolutionary Biology, Biochemistry & Molecular Biology
Abstract

Ty3, a gypsylike retrotransposon of budding yeast, integrates at the transcription initiation site of genes transcribed by RNA polymerase III (pol III). It was previously shown that integration in vitro requires intact promoter elements and the pol III transcription factors TFIIIB and TFIIIC. In order to test the effect of pol III on integration, increasing amounts of a pol III-containing fraction were added to Ty3 in vitro integration reactions. The pol III-containing fraction was inhibitory to integration. These results are consistent with a model where the Ty3 integration complex and pol III recognize similar features of the stable transcription complex and compete with each other for access to the transcription initiation site.

Published
1997

6. Requirement of RNA Polymerase III Transcription Factors for in Vitro Position-Specific Integration of a Retroviruslike Element

Author

Kirchner, Jacqueline, Connolly, Charles M, and Sandmeyer, Suzanne B

Subjects
Biotechnology, Genetics, DNA Nucleotidyltransferases, Integrases, Models, Genetic, Mutagenesis, Site-Directed, RNA Polymerase III, RNA, Transfer, Tyr, Recombination, Genetic, Retroelements, Saccharomyces cerevisiae, Transcription Factor TFIIIB, Transcription Factors, Transcription Factors, TFIII, Transcription, Genetic, Virus Integration, General Science & Technology
Abstract

The yeast retroviruslike element Ty3 inserts at the transcription initiation sites of genes transcribed by RNA polymerase III (Pol III). An in vitro integration assay was developed with the use of Ty3 viruslike particles and a modified SUP2 tyrosine transfer RNA (tRNA(Tyr)) gene target. Integration was position-specific and required Ty3 integrase, Pol III transcription factor (TF) IIIB-, TFIIIC-, and Pol III-containing fractions showed that TFIIIB and TFIIIC, together, were sufficient for position-specific Ty3 integration, but not for transcription. This report demonstrates that in vitro integration of a retroelement can be targeted by cellular proteins.

Published
1995

7. Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival

Author

Zaidi, Syed H., Harrison, Tabitha A., Phipps, Amanda I., Steinfelder, Robert, Trinh, Quang M., Qu, Conghui, Banbury, Barbara L., Georgeson, Peter, Grasso, Catherine S., Giannakis, Marios, Adams, Jeremy B., Alwers, Elizabeth, Amitay, Efrat L., Barfield, Richard T., Berndt, Sonja, I, Borozan, Ivan, Brenner, Hermann, Brezina, Stefanie, Buchanan, Daniel D., Cao, Yin, Chan, Andrew T., Chang-Claude, Jenny, Connolly, Charles M., Drew, David A., Farris, Alton Brad, III, Figueiredo, Jane C., French, Amy J., Fuchs, Charles S., Garraway, Levi A., Gruber, Steve, Guinter, Mark A., Hamilton, Stanley R., Harlid, Sophia, Heisler, Lawrence E., Hidaka, Akihisa, Hopper, John L., Huang, Wen-Yi, Huyghe, Jeroen R., Jenkins, Mark A., Krzyzanowski, Paul M., Lemire, Mathieu, Lin, Yi, Luo, Xuemei, Mardis, Elaine R., McPherson, John D., Miller, Jessica K., Moreno, Victor, Mu, Xinmeng Jasmine, Nishihara, Reiko, Papadopoulos, Nickolas, Pasternack, Danielle, Quist, Michael J., Rafikova, Adilya, Reid, Emma E. G., Shinbrot, Eve, Shirts, Brian H., Stein, Lincoln D., Teney, Cherie D., Timms, Lee, Um, Caroline Y., van Guelpen, Bethany, Van Tassel, Megan, Wang, Xiaolong, Wheeler, David A., Yung, Christina K., Hsu, Li, Ogino, Shuji, Gsur, Andrea, Newcomb, Polly A., Gallinger, Steven, Hoffmeister, Michael, Campbell, Peter T., Thibodeau, Stephen N., Sun, Wei, Hudson, Thomas J., Peters, Ulrike, Zaidi, Syed H., Harrison, Tabitha A., Phipps, Amanda I., Steinfelder, Robert, Trinh, Quang M., Qu, Conghui, Banbury, Barbara L., Georgeson, Peter, Grasso, Catherine S., Giannakis, Marios, Adams, Jeremy B., Alwers, Elizabeth, Amitay, Efrat L., Barfield, Richard T., Berndt, Sonja, I, Borozan, Ivan, Brenner, Hermann, Brezina, Stefanie, Buchanan, Daniel D., Cao, Yin, Chan, Andrew T., Chang-Claude, Jenny, Connolly, Charles M., Drew, David A., Farris, Alton Brad, III, Figueiredo, Jane C., French, Amy J., Fuchs, Charles S., Garraway, Levi A., Gruber, Steve, Guinter, Mark A., Hamilton, Stanley R., Harlid, Sophia, Heisler, Lawrence E., Hidaka, Akihisa, Hopper, John L., Huang, Wen-Yi, Huyghe, Jeroen R., Jenkins, Mark A., Krzyzanowski, Paul M., Lemire, Mathieu, Lin, Yi, Luo, Xuemei, Mardis, Elaine R., McPherson, John D., Miller, Jessica K., Moreno, Victor, Mu, Xinmeng Jasmine, Nishihara, Reiko, Papadopoulos, Nickolas, Pasternack, Danielle, Quist, Michael J., Rafikova, Adilya, Reid, Emma E. G., Shinbrot, Eve, Shirts, Brian H., Stein, Lincoln D., Teney, Cherie D., Timms, Lee, Um, Caroline Y., van Guelpen, Bethany, Van Tassel, Megan, Wang, Xiaolong, Wheeler, David A., Yung, Christina K., Hsu, Li, Ogino, Shuji, Gsur, Andrea, Newcomb, Polly A., Gallinger, Steven, Hoffmeister, Michael, Campbell, Peter T., Thibodeau, Stephen N., Sun, Wei, Hudson, Thomas J., and Peters, Ulrike

Abstract

Colorectal cancer (CRC) is a biologically heterogeneous disease. To characterize its mutational profile, we conduct targeted sequencing of 205 genes for 2,105 CRC cases with survival data. Our data shows several findings in addition to enhancing the existing knowledge of CRC. We identify PRKCI, SPZ1, MUTYH, MAP2K4, FETUB, and TGFBR2 as additional genes significantly mutated in CRC. We find that among hypermutated tumors, an increased mutation burden is associated with improved CRC-specific survival (HR=0.42, 95% CI: 0.21-0.82). Mutations in TP53 are associated with poorer CRC-specific survival, which is most pronounced in cases carrying TP53 mutations with predicted 0% transcriptional activity (HR=1.53, 95% CI: 1.21-1.94). Furthermore, we observe differences in mutational frequency of several genes and pathways by tumor location, stage, and sex. Overall, this large study provides deep insights into somatic mutations in CRC, and their potential relationships with survival and tumor features. Large scale sequencing study is of paramount importance to unravel the heterogeneity of colorectal cancer. Here, the authors sequenced 205 cancer genes in more than 2000 tumours and identified additional mutated driver genes, determined that mutational burden and specific mutations in TP53 are associated with survival odds.

Published
2020
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8. Disruption of murine Tenr results in teratospermia and male infertility

Author

Connolly, Charles M., Dearth, Andrea T., and Braun, Robert E.

Subjects
Spermatogenesis -- Research, Developmental biology -- Research, Biological sciences
Abstract

Gametes rely heavily on posttranscriptional control for their differentiation. Translational control, alternative splicing, and alternative processing of the 3' end of mRNAs are all common during spermatogenesis. Tent, which encodes a highly conserved 72-kDa protein, is expressed solely in germ ceils of the testis from the mid-pachytene stage until the elongating spennatid stage. TENR contains a double-stranded RNA binding domain, is localized to the nucleus, and is phylogenetically related to a family of adenosine deaminases involved in RNA editing. We show here that targeted mutation of the Tenr gene causes male sterility. Tenr mutant males have a reduced sperm count, and [Ten.sup.-/-] sperm show a decrease in motility and an increase in malformed heads. Despite their sterility, some epididymal sperm from Tenr mutants have normal morphology. The ability of Tenr mutant sperm to fertilize zona pellucida-free oocytes and to bind to, but not fertilize, zona pellucida-intact oocytes suggests that the normal-appearing sperm are not able to penetrate the zona pellucida. These data suggest that TENR plays an essential function in spermatid morphogenesis. Kerywords: Spermatogenesis; Posttranscriptional control; RNA editing

Published
2005

10. Correction to : Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.

Author

Bien, Stephanie A, Su, Yu-Ru, Conti, David V, Harrison, Tabitha A, Qu, Conghui, Guo, Xingyi, Lu, Yingchang, Albanes, Demetrius, Auer, Paul L, Banbury, Barbara L, Berndt, Sonja I, Bézieau, Stéphane, Brenner, Hermann, Buchanan, Daniel D, Caan, Bette J, Campbell, Peter T, Carlson, Christopher S, Chan, Andrew T, Chang-Claude, Jenny, Chen, Sai, Connolly, Charles M, Easton, Douglas F, Feskens, Edith J M, Gallinger, Steven, Giles, Graham G, Gunter, Marc J, Hampe, Jochen, Huyghe, Jeroen R, Hoffmeister, Michael, Hudson, Thomas J, Jacobs, Eric J, Jenkins, Mark A, Kampman, Ellen, Kang, Hyun Min, Kühn, Tilman, Küry, Sébastien, Lejbkowicz, Flavio, Le Marchand, Loic, Milne, Roger L, Li, Li, Li, Christopher I, Lindblom, Annika, Lindor, Noralane M, Martín, Vicente, McNeil, Caroline E, Melas, Marilena, Moreno, Victor, Newcomb, Polly A, Offit, Kenneth, Pharaoh, Paul D P, Potter, John D, Qu, Chenxu, Riboli, Elio, Rennert, Gad, Sala, Núria, Schafmayer, Clemens, Scacheri, Peter C, Schmit, Stephanie L, Severi, Gianluca, Slattery, Martha L, Smith, Joshua D, Trichopoulou, Antonia, Tumino, Rosario, Ulrich, Cornelia M, van Duijnhoven, Fränzel J B, Van Guelpen, Bethany, Weinstein, Stephanie J, White, Emily, Wolk, Alicja, Woods, Michael O, Wu, Anna H, Abeçasis, Goncalo R, Casey, Graham, Nickerson, Deborah A, Gruber, Stephen B, Hsu, Li, Zheng, Wei, Peters, Ulrike, Bien, Stephanie A, Su, Yu-Ru, Conti, David V, Harrison, Tabitha A, Qu, Conghui, Guo, Xingyi, Lu, Yingchang, Albanes, Demetrius, Auer, Paul L, Banbury, Barbara L, Berndt, Sonja I, Bézieau, Stéphane, Brenner, Hermann, Buchanan, Daniel D, Caan, Bette J, Campbell, Peter T, Carlson, Christopher S, Chan, Andrew T, Chang-Claude, Jenny, Chen, Sai, Connolly, Charles M, Easton, Douglas F, Feskens, Edith J M, Gallinger, Steven, Giles, Graham G, Gunter, Marc J, Hampe, Jochen, Huyghe, Jeroen R, Hoffmeister, Michael, Hudson, Thomas J, Jacobs, Eric J, Jenkins, Mark A, Kampman, Ellen, Kang, Hyun Min, Kühn, Tilman, Küry, Sébastien, Lejbkowicz, Flavio, Le Marchand, Loic, Milne, Roger L, Li, Li, Li, Christopher I, Lindblom, Annika, Lindor, Noralane M, Martín, Vicente, McNeil, Caroline E, Melas, Marilena, Moreno, Victor, Newcomb, Polly A, Offit, Kenneth, Pharaoh, Paul D P, Potter, John D, Qu, Chenxu, Riboli, Elio, Rennert, Gad, Sala, Núria, Schafmayer, Clemens, Scacheri, Peter C, Schmit, Stephanie L, Severi, Gianluca, Slattery, Martha L, Smith, Joshua D, Trichopoulou, Antonia, Tumino, Rosario, Ulrich, Cornelia M, van Duijnhoven, Fränzel J B, Van Guelpen, Bethany, Weinstein, Stephanie J, White, Emily, Wolk, Alicja, Woods, Michael O, Wu, Anna H, Abeçasis, Goncalo R, Casey, Graham, Nickerson, Deborah A, Gruber, Stephen B, Hsu, Li, Zheng, Wei, and Peters, Ulrike

Abstract

Every author has erroneously been assigned to the affiliation "62". The affiliation 62 belongs to the author Graham Casey.

Published
2019
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11. Discovery of common and rare genetic risk variants for colorectal cancer

Author

Epi Kanker Team A, Cancer, JC onderzoeksprogramma Kanker, CMM Groep Burgering, Cardiovasculaire Epi Team 3, Brain, Circulatory Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Huyghe, Jeroen R., Bien, Stephanie A., Harrison, Tabitha A., Kang, Hyun Min, Chen, Sai, Schmit, Stephanie L., Conti, David V., Qu, Conghui, Jeon, Jihyoun, Edlund, Christopher K., Greenside, Peyton, Wainberg, Michael, Schumacher, Fredrick R., Smith, Joshua D., Levine, David M., Nelson, Sarah C., Sinnott-Armstrong, Nasa A., Albanes, Demetrius, Alonso, M. Henar, Anderson, Kristin, Arnau-Collell, Coral, Arndt, Volker, Bamia, Christina, Banbury, Barbara L., Baron, John A., Berndt, Sonja I., Bézieau, Stéphane, Bishop, D. Timothy, Boehm, Juergen, Boeing, Heiner, Brenner, Hermann, Brezina, Stefanie, Buch, Stephan, Buchanan, Daniel D., Burnett-Hartman, Andrea, Butterbach, Katja, Caan, Bette J., Campbell, Peter T., Carlson, Christopher S., Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Chanock, Stephen J., Chirlaque, Maria Dolores, Cho, Sang Hee, Connolly, Charles M., Cross, Amanda J., Cuk, Katarina, Curtis, Keith R., de la Chapelle, Albert, Doheny, Kimberly F., Duggan, David, Easton, Douglas F., Elias, Sjoerd G., Elliott, Faye, English, Dallas R., Feskens, Edith J.M., Figueiredo, Jane C., Fischer, Rocky, FitzGerald, Liesel M., Forman, David, Gala, Manish, Gallinger, Steven, Gauderman, W. James, Giles, Graham G., Gillanders, Elizabeth, Gong, Jian, Goodman, Phyllis J., Grady, William M., Grove, John S., Gsur, Andrea, Gunter, Marc J., Haile, Robert W., Hampe, Jochen, Hampel, Heather, Harlid, Sophia, Hayes, Richard B., Hofer, Philipp, Hoffmeister, Michael, Hopper, John L., Hsu, Wan Ling, Huang, Wen Yi, Hudson, Thomas J., Hunter, David J., Ibañez-Sanz, Gemma, Idos, Gregory E., Ingersoll, Roxann, Jackson, Rebecca D., Jacobs, Eric J., Jenkins, Mark A., Joshi, Amit D., Joshu, Corinne E., Keku, Temitope O., Key, Timothy J., Kim, Hyeong Rok, Kobayashi, Emiko, Kolonel, Laurence N., Kooperberg, Charles, Kühn, Tilman, Küry, Sébastien, Kweon, Sun Seog, Larsson, Susanna C., Laurie, Cecelia A., Le Marchand, Loic, Leal, Suzanne M., Lee, Soo Chin, Lejbkowicz, Flavio, Lemire, Mathieu, Li, Christopher I., Li, Li, Lieb, Wolfgang, Lin, Yi, Lindblom, Annika, Lindor, Noralane M., Ling, Hua, Louie, Tin L., Männistö, Satu, Markowitz, Sanford D., Martín, Vicente, Masala, Giovanna, McNeil, Caroline E., Melas, Marilena, Milne, Roger L., Moreno, Lorena, Murphy, Neil, Myte, Robin, Naccarati, Alessio, Newcomb, Polly A., Offit, Kenneth, Ogino, Shuji, Onland-Moret, N. Charlotte, Pardini, Barbara, Parfrey, Patrick S., Pearlman, Rachel, Perduca, Vittorio, Pharoah, Paul D.P., Pinchev, Mila, Platz, Elizabeth A., Prentice, Ross L., Pugh, Elizabeth, Raskin, Leon, Rennert, Gad, Rennert, Hedy S., Riboli, Elio, Rodríguez-Barranco, Miguel, Romm, Jane, Sakoda, Lori C., Schafmayer, Clemens, Schoen, Robert E., Seminara, Daniela, Shah, Mitul, Shelford, Tameka, Shin, Min Ho, Shulman, Katerina, Sieri, Sabina, Slattery, Martha L., Southey, Melissa C., Stadler, Zsofia K., Stegmaier, Christa, Su, Yu Ru, Tangen, Catherine M., Thibodeau, Stephen N., Thomas, Duncan C., Thomas, Sushma S., Toland, Amanda E., Trichopoulou, Antonia, Ulrich, Cornelia M., Van Den Berg, David J., van Duijnhoven, Franzel J.B., Van Guelpen, Bethany, van Kranen, Henk, Vijai, Joseph, Visvanathan, Kala, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Weigl, Korbinian, Weinstein, Stephanie J., White, Emily, Win, Aung Ko, Wolf, C. Roland, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Zaidi, Syed H., Zanke, Brent W., Zhang, Qing, Zheng, Wei, Scacheri, Peter C., Potter, John D., Bassik, Michael C., Kundaje, Anshul, Casey, Graham, Moreno, Victor, Abecasis, Goncalo R., Nickerson, Deborah A., Gruber, Stephen B., Hsu, Li, Peters, Ulrike, Epi Kanker Team A, Cancer, JC onderzoeksprogramma Kanker, CMM Groep Burgering, Cardiovasculaire Epi Team 3, Brain, Circulatory Health, JC onderzoeksprogramma Cardiovasculaire Epidemiologie, Huyghe, Jeroen R., Bien, Stephanie A., Harrison, Tabitha A., Kang, Hyun Min, Chen, Sai, Schmit, Stephanie L., Conti, David V., Qu, Conghui, Jeon, Jihyoun, Edlund, Christopher K., Greenside, Peyton, Wainberg, Michael, Schumacher, Fredrick R., Smith, Joshua D., Levine, David M., Nelson, Sarah C., Sinnott-Armstrong, Nasa A., Albanes, Demetrius, Alonso, M. Henar, Anderson, Kristin, Arnau-Collell, Coral, Arndt, Volker, Bamia, Christina, Banbury, Barbara L., Baron, John A., Berndt, Sonja I., Bézieau, Stéphane, Bishop, D. Timothy, Boehm, Juergen, Boeing, Heiner, Brenner, Hermann, Brezina, Stefanie, Buch, Stephan, Buchanan, Daniel D., Burnett-Hartman, Andrea, Butterbach, Katja, Caan, Bette J., Campbell, Peter T., Carlson, Christopher S., Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Chanock, Stephen J., Chirlaque, Maria Dolores, Cho, Sang Hee, Connolly, Charles M., Cross, Amanda J., Cuk, Katarina, Curtis, Keith R., de la Chapelle, Albert, Doheny, Kimberly F., Duggan, David, Easton, Douglas F., Elias, Sjoerd G., Elliott, Faye, English, Dallas R., Feskens, Edith J.M., Figueiredo, Jane C., Fischer, Rocky, FitzGerald, Liesel M., Forman, David, Gala, Manish, Gallinger, Steven, Gauderman, W. James, Giles, Graham G., Gillanders, Elizabeth, Gong, Jian, Goodman, Phyllis J., Grady, William M., Grove, John S., Gsur, Andrea, Gunter, Marc J., Haile, Robert W., Hampe, Jochen, Hampel, Heather, Harlid, Sophia, Hayes, Richard B., Hofer, Philipp, Hoffmeister, Michael, Hopper, John L., Hsu, Wan Ling, Huang, Wen Yi, Hudson, Thomas J., Hunter, David J., Ibañez-Sanz, Gemma, Idos, Gregory E., Ingersoll, Roxann, Jackson, Rebecca D., Jacobs, Eric J., Jenkins, Mark A., Joshi, Amit D., Joshu, Corinne E., Keku, Temitope O., Key, Timothy J., Kim, Hyeong Rok, Kobayashi, Emiko, Kolonel, Laurence N., Kooperberg, Charles, Kühn, Tilman, Küry, Sébastien, Kweon, Sun Seog, Larsson, Susanna C., Laurie, Cecelia A., Le Marchand, Loic, Leal, Suzanne M., Lee, Soo Chin, Lejbkowicz, Flavio, Lemire, Mathieu, Li, Christopher I., Li, Li, Lieb, Wolfgang, Lin, Yi, Lindblom, Annika, Lindor, Noralane M., Ling, Hua, Louie, Tin L., Männistö, Satu, Markowitz, Sanford D., Martín, Vicente, Masala, Giovanna, McNeil, Caroline E., Melas, Marilena, Milne, Roger L., Moreno, Lorena, Murphy, Neil, Myte, Robin, Naccarati, Alessio, Newcomb, Polly A., Offit, Kenneth, Ogino, Shuji, Onland-Moret, N. Charlotte, Pardini, Barbara, Parfrey, Patrick S., Pearlman, Rachel, Perduca, Vittorio, Pharoah, Paul D.P., Pinchev, Mila, Platz, Elizabeth A., Prentice, Ross L., Pugh, Elizabeth, Raskin, Leon, Rennert, Gad, Rennert, Hedy S., Riboli, Elio, Rodríguez-Barranco, Miguel, Romm, Jane, Sakoda, Lori C., Schafmayer, Clemens, Schoen, Robert E., Seminara, Daniela, Shah, Mitul, Shelford, Tameka, Shin, Min Ho, Shulman, Katerina, Sieri, Sabina, Slattery, Martha L., Southey, Melissa C., Stadler, Zsofia K., Stegmaier, Christa, Su, Yu Ru, Tangen, Catherine M., Thibodeau, Stephen N., Thomas, Duncan C., Thomas, Sushma S., Toland, Amanda E., Trichopoulou, Antonia, Ulrich, Cornelia M., Van Den Berg, David J., van Duijnhoven, Franzel J.B., Van Guelpen, Bethany, van Kranen, Henk, Vijai, Joseph, Visvanathan, Kala, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Weigl, Korbinian, Weinstein, Stephanie J., White, Emily, Win, Aung Ko, Wolf, C. Roland, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Zaidi, Syed H., Zanke, Brent W., Zhang, Qing, Zheng, Wei, Scacheri, Peter C., Potter, John D., Bassik, Michael C., Kundaje, Anshul, Casey, Graham, Moreno, Victor, Abecasis, Goncalo R., Nickerson, Deborah A., Gruber, Stephen B., Hsu, Li, and Peters, Ulrike

Published
2019

12. Discovery of common and rare genetic risk variants for colorectal cancer

Author

Huyghe, Jeroen R., primary, Bien, Stephanie A., additional, Harrison, Tabitha A., additional, Kang, Hyun Min, additional, Chen, Sai, additional, Schmit, Stephanie L., additional, Conti, David V., additional, Qu, Conghui, additional, Jeon, Jihyoun, additional, Edlund, Christopher K., additional, Greenside, Peyton, additional, Wainberg, Michael, additional, Schumacher, Fredrick R., additional, Smith, Joshua D., additional, Levine, David M., additional, Nelson, Sarah C., additional, Sinnott-Armstrong, Nasa A., additional, Albanes, Demetrius, additional, Alonso, M. Henar, additional, Anderson, Kristin, additional, Arnau-Collell, Coral, additional, Arndt, Volker, additional, Bamia, Christina, additional, Banbury, Barbara L., additional, Baron, John A., additional, Berndt, Sonja I., additional, Bézieau, Stéphane, additional, Bishop, D. Timothy, additional, Boehm, Juergen, additional, Boeing, Heiner, additional, Brenner, Hermann, additional, Brezina, Stefanie, additional, Buch, Stephan, additional, Buchanan, Daniel D., additional, Burnett-Hartman, Andrea, additional, Butterbach, Katja, additional, Caan, Bette J., additional, Campbell, Peter T., additional, Carlson, Christopher S., additional, Castellví-Bel, Sergi, additional, Chan, Andrew T., additional, Chang-Claude, Jenny, additional, Chanock, Stephen J., additional, Chirlaque, Maria-Dolores, additional, Cho, Sang Hee, additional, Connolly, Charles M., additional, Cross, Amanda J., additional, Cuk, Katarina, additional, Curtis, Keith R., additional, de la Chapelle, Albert, additional, Doheny, Kimberly F., additional, Duggan, David, additional, Easton, Douglas F., additional, Elias, Sjoerd G., additional, Elliott, Faye, additional, English, Dallas R., additional, Feskens, Edith J. M., additional, Figueiredo, Jane C., additional, Fischer, Rocky, additional, FitzGerald, Liesel M., additional, Forman, David, additional, Gala, Manish, additional, Gallinger, Steven, additional, Gauderman, W. James, additional, Giles, Graham G., additional, Gillanders, Elizabeth, additional, Gong, Jian, additional, Goodman, Phyllis J., additional, Grady, William M., additional, Grove, John S., additional, Gsur, Andrea, additional, Gunter, Marc J., additional, Haile, Robert W., additional, Hampe, Jochen, additional, Hampel, Heather, additional, Harlid, Sophia, additional, Hayes, Richard B., additional, Hofer, Philipp, additional, Hoffmeister, Michael, additional, Hopper, John L., additional, Hsu, Wan-Ling, additional, Huang, Wen-Yi, additional, Hudson, Thomas J., additional, Hunter, David J., additional, Ibañez-Sanz, Gemma, additional, Idos, Gregory E., additional, Ingersoll, Roxann, additional, Jackson, Rebecca D., additional, Jacobs, Eric J., additional, Jenkins, Mark A., additional, Joshi, Amit D., additional, Joshu, Corinne E., additional, Keku, Temitope O., additional, Key, Timothy J., additional, Kim, Hyeong Rok, additional, Kobayashi, Emiko, additional, Kolonel, Laurence N., additional, Kooperberg, Charles, additional, Kühn, Tilman, additional, Küry, Sébastien, additional, Kweon, Sun-Seog, additional, Larsson, Susanna C., additional, Laurie, Cecelia A., additional, Le Marchand, Loic, additional, Leal, Suzanne M., additional, Lee, Soo Chin, additional, Lejbkowicz, Flavio, additional, Lemire, Mathieu, additional, Li, Christopher I., additional, Li, Li, additional, Lieb, Wolfgang, additional, Lin, Yi, additional, Lindblom, Annika, additional, Lindor, Noralane M., additional, Ling, Hua, additional, Louie, Tin L., additional, Männistö, Satu, additional, Markowitz, Sanford D., additional, Martín, Vicente, additional, Masala, Giovanna, additional, McNeil, Caroline E., additional, Melas, Marilena, additional, Milne, Roger L., additional, Moreno, Lorena, additional, Murphy, Neil, additional, Myte, Robin, additional, Naccarati, Alessio, additional, Newcomb, Polly A., additional, Offit, Kenneth, additional, Ogino, Shuji, additional, Onland-Moret, N. Charlotte, additional, Pardini, Barbara, additional, Parfrey, Patrick S., additional, Pearlman, Rachel, additional, Perduca, Vittorio, additional, Pharoah, Paul D. P., additional, Pinchev, Mila, additional, Platz, Elizabeth A., additional, Prentice, Ross L., additional, Pugh, Elizabeth, additional, Raskin, Leon, additional, Rennert, Gad, additional, Rennert, Hedy S., additional, Riboli, Elio, additional, Rodríguez-Barranco, Miguel, additional, Romm, Jane, additional, Sakoda, Lori C., additional, Schafmayer, Clemens, additional, Schoen, Robert E., additional, Seminara, Daniela, additional, Shah, Mitul, additional, Shelford, Tameka, additional, Shin, Min-Ho, additional, Shulman, Katerina, additional, Sieri, Sabina, additional, Slattery, Martha L., additional, Southey, Melissa C., additional, Stadler, Zsofia K., additional, Stegmaier, Christa, additional, Su, Yu-Ru, additional, Tangen, Catherine M., additional, Thibodeau, Stephen N., additional, Thomas, Duncan C., additional, Thomas, Sushma S., additional, Toland, Amanda E., additional, Trichopoulou, Antonia, additional, Ulrich, Cornelia M., additional, Van Den Berg, David J., additional, van Duijnhoven, Franzel J. B., additional, Van Guelpen, Bethany, additional, van Kranen, Henk, additional, Vijai, Joseph, additional, Visvanathan, Kala, additional, Vodicka, Pavel, additional, Vodickova, Ludmila, additional, Vymetalkova, Veronika, additional, Weigl, Korbinian, additional, Weinstein, Stephanie J., additional, White, Emily, additional, Win, Aung Ko, additional, Wolf, C. Roland, additional, Wolk, Alicja, additional, Woods, Michael O., additional, Wu, Anna H., additional, Zaidi, Syed H., additional, Zanke, Brent W., additional, Zhang, Qing, additional, Zheng, Wei, additional, Scacheri, Peter C., additional, Potter, John D., additional, Bassik, Michael C., additional, Kundaje, Anshul, additional, Casey, Graham, additional, Moreno, Victor, additional, Abecasis, Goncalo R., additional, Nickerson, Deborah A., additional, Gruber, Stephen B., additional, Hsu, Li, additional, and Peters, Ulrike, additional

Published
2018
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13. Abstract PR03: Genetic mechanisms of immune evasion in colorectal cancer

Author

Giannakis, Marios, primary, Grasso, Catherine, additional, Wells, Daniel, additional, Hamada, Tsuyoshi, additional, Mu, Xinmeng Jasmine, additional, Quist, Michael, additional, Nowak, Jonathan, additional, Nishihara, Reiko, additional, Connolly, Charles M., additional, Shukla, Sachet, additional, Grady, William M., additional, Wheeler, David, additional, Wu, Catherine J., additional, Zaretsky, Jesse, additional, Garraway, Levi, additional, Hudson, Thomas, additional, Fuchs, Charles, additional, Ribas, Antoni, additional, Peters, Riki, additional, and Ogino, Shuji, additional

Published
2018
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14. Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data.

Author

Bien, Stephanie A., Auer, Paul L., Harrison, Tabitha A., Qu, Conghui, Connolly, Charles M., Greenside, Peyton G., Chen, Sai, Berndt, Sonja I., Bézieau, Stéphane, Kang, Hyun M., Huyghe, Jeroen, Brenner, Hermann, Casey, Graham, Chan, Andrew T., Hopper, John L., Banbury, Barbara L., Chang-Claude, Jenny, Chanock, Stephen J., Haile, Robert W., and Hoffmeister, Michael

Subjects
COLON cancer risk factors, NUCLEOTIDE sequencing, CIS-regulatory elements (Genetics), GENETICS of colon cancer, EPIGENOMICS
Abstract

Background: The evaluation of less frequent genetic variants and their effect on complex disease pose new challenges for genomic research. To investigate whether epigenetic data can be used to inform aggregate rare-variant association methods (RVAM), we assessed whether variants more significantly associated with colorectal cancer (CRC) were preferentially located in non-coding regulatory regions, and whether enrichment was specific to colorectal tissues. Methods: Active regulatory elements (ARE) were mapped using data from 127 tissues and cell-types from NIH Roadmap Epigenomics and Encyclopedia of DNA Elements (ENCODE) projects. We investigated whether CRC association p-values were more significant for common variants inside versus outside AREs, or 2) inside colorectal (CR) AREs versus AREs of other tissues and cell-types. We employed an integrative epigenomic RVAM for variants with allele frequency <1%. Gene sets were defined as ARE variants within 200 kilobases of a transcription start site (TSS) using either CR ARE or ARE from non-digestive tissues. CRC-set association p-values were used to evaluate enrichment of less frequent variant associations in CR ARE versus non-digestive ARE. Results: ARE from 126/127 tissues and cell-types were significantly enriched for stronger CRC-variant associations. Strongest enrichment was observed for digestive tissues and immune cell types. CR-specific ARE were also enriched for stronger CRC-variant associations compared to ARE combined across non-digestive tissues (p-value = 9.6 × 10−4). Additionally, we found enrichment of stronger CRC association p-values for rare variant sets of CR ARE compared to non-digestive ARE (p-value = 0.029). Conclusions: Integrative epigenomic RVAM may enable discovery of less frequent variants associated with CRC, and ARE of digestive and immune tissues are most informative. Although distance-based aggregation of less frequent variants in CR ARE surrounding TSS showed modest enrichment, future association studies would likely benefit from joint analysis of transcriptomes and epigenomes to better link regulatory variation with target genes. [ABSTRACT FROM AUTHOR]

Published
2017
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16. Rough Riders (1909)

Author

Connolly, Charles M., Connolly, Charles M., Connolly, Charles M., and Connolly, Charles M.

Abstract

Sheet music for "The Rough Riders," a popular piece celebrating the exploits of the Rough Riders during the Spanish-American War. The cover features an illustration of a rider using a lasso.

Published
1909

17. Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

Author

Bien, Stephanie A, Su, Yu-Ru, Conti, David V, Harrison, Tabitha A, Qu, Conghui, Guo, Xingyi, Lu, Yingchang, Albanes, Demetrius, Auer, Paul L, Banbury, Barbara L, Berndt, Sonja I, Bézieau, Stéphane, Brenner, Hermann, Buchanan, Daniel D, Caan, Bette J, Campbell, Peter T, Carlson, Christopher S, Chan, Andrew T, Chang-Claude, Jenny, Chen, Sai, Connolly, Charles M, Easton, Douglas F, Feskens, Edith JM, Gallinger, Steven, Giles, Graham G, Gunter, Marc J, Hampe, Jochen, Huyghe, Jeroen R, Hoffmeister, Michael, Hudson, Thomas J, Jacobs, Eric J, Jenkins, Mark A, Kampman, Ellen, Kang, Hyun Min, Kühn, Tilman, Küry, Sébastien, Lejbkowicz, Flavio, Le Marchand, Loic, Milne, Roger L, Li, Li, Li, Christopher I, Lindblom, Annika, Lindor, Noralane M, Martín, Vicente, McNeil, Caroline E, Melas, Marilena, Moreno, Victor, Newcomb, Polly A, Offit, Kenneth, Pharaoh, Paul DP, Potter, John D, Qu, Chenxu, Riboli, Elio, Rennert, Gad, Sala, Núria, Schafmayer, Clemens, Scacheri, Peter C, Schmit, Stephanie L, Severi, Gianluca, Slattery, Martha L, Smith, Joshua D, Trichopoulou, Antonia, Tumino, Rosario, Ulrich, Cornelia M, Van Duijnhoven, Fränzel JB, Van Guelpen, Bethany, Weinstein, Stephanie J, White, Emily, Wolk, Alicja, Woods, Michael O, Wu, Anna H, Abecasis, Goncalo R, Casey, Graham, Nickerson, Deborah A, Gruber, Stephen B, Hsu, Li, Zheng, Wei, and Peters, Ulrike

Subjects
Gene Expression Regulation, Neoplastic, Gene Frequency, Predictive Value of Tests, Risk Factors, Case-Control Studies, Gene Expression, Humans, Genetic Predisposition to Disease, Colorectal Neoplasms, Prognosis, Polymorphism, Single Nucleotide, 3. Good health, Genome-Wide Association Study
Abstract

Genome-wide association studies have reported 56 independently associated colorectal cancer (CRC) risk variants, most of which are non-coding and believed to exert their effects by modulating gene expression. The computational method PrediXcan uses cis-regulatory variant predictors to impute expression and perform gene-level association tests in GWAS without directly measured transcriptomes. In this study, we used reference datasets from colon (n = 169) and whole blood (n = 922) transcriptomes to test CRC association with genetically determined expression levels in a genome-wide analysis of 12,186 cases and 14,718 controls. Three novel associations were discovered from colon transverse models at FDR ≤ 0.2 and further evaluated in an independent replication including 32,825 cases and 39,933 controls. After adjusting for multiple comparisons, we found statistically significant associations using colon transcriptome models with TRIM4 (discovery P = 2.2 × 10- 4, replication P = 0.01), and PYGL (discovery P = 2.3 × 10- 4, replication P = 6.7 × 10- 4). Interestingly, both genes encode proteins that influence redox homeostasis and are related to cellular metabolic reprogramming in tumors, implicating a novel CRC pathway linked to cell growth and proliferation. Defining CRC risk regions as one megabase up- and downstream of one of the 56 independent risk variants, we defined 44 non-overlapping CRC-risk regions. Among these risk regions, we identified genes associated with CRC (P < 0.05) in 34/44 CRC-risk regions. Importantly, CRC association was found for two genes in the previously reported 2q25 locus, CXCR1 and CXCR2, which are potential cancer therapeutic targets. These findings provide strong candidate genes to prioritize for subsequent laboratory follow-up of GWAS loci. This study is the first to implement PrediXcan in a large colorectal cancer study and findings highlight the utility of integrating transcriptome data in GWAS for discovery of, and biological insight into, risk loci.

18. Dancing in the dreamy waltz

Author

Connolly, Charles M., composer.; Oliver Ditson & Co., publisher., J.H. Bufford's Sons Lith., lithographer., Connolly, Charles M., composer.; Oliver Ditson & Co., publisher., and J.H. Bufford's Sons Lith., lithographer.

Abstract

Subject: The central dignette of a couple dancing in a ballroom is surrounded by a romantic moonlit landscape., Sheet music can be digitized upon request., Gift of Dr. Walter Mann. June 1980. #1980.40.

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