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759 results on '"Sakoda, Lori C"'

1. Genetic risk impacts the association of menopausal hormone therapy with colorectal cancer risk

Author

Tian, Yu, Lin, Yi, Qu, Conghui, Arndt, Volker, Baurley, James W., Berndt, Sonja I., Bien, Stephanie A., Bishop, D. Timothy, Brenner, Hermann, Buchanan, Daniel D., Budiarto, Arif, Campbell, Peter T., Carreras-Torres, Robert, Casey, Graham, Chan, Andrew T., Chen, Rui, Chen, Xuechen, Conti, David V., Díez-Obrero, Virginia, Dimou, Niki, Drew, David A., Figueiredo, Jane C., Gallinger, Steven, Giles, Graham G., Gruber, Stephen B., Gunter, Marc J., Harlid, Sophia, Harrison, Tabitha A., Hidaka, Akihisa, Hoffmeister, Michael, Huyghe, Jeroen R., Jenkins, Mark A., Jordahl, Kristina M., Joshi, Amit D., Keku, Temitope O., Kawaguchi, Eric, Kim, Andre E., Kundaje, Anshul, Larsson, Susanna C., Marchand, Loic Le, Lewinger, Juan Pablo, Li, Li, Moreno, Victor, Morrison, John, Murphy, Neil, Nan, Hongmei, Nassir, Rami, Newcomb, Polly A., Obón-Santacana, Mireia, Ogino, Shuji, Ose, Jennifer, Pardamean, Bens, Pellatt, Andrew J., Peoples, Anita R., Platz, Elizabeth A., Potter, John D., Prentice, Ross L., Rennert, Gad, Ruiz-Narvaez, Edward A., Sakoda, Lori C., Schoen, Robert E., Shcherbina, Anna, Stern, Mariana C., Su, Yu-Ru, Thibodeau, Stephen N., Thomas, Duncan C., Tsilidis, Konstantinos K., van Duijnhoven, Franzel J. B., Van Guelpen, Bethany, Visvanathan, Kala, White, Emily, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Peters, Ulrike, Gauderman, W. James, Hsu, Li, and Chang-Claude, Jenny

Published
2024
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2. Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes

Author

Chen, Zhishan, Guo, Xingyi, Tao, Ran, Huyghe, Jeroen R., Law, Philip J., Fernandez-Rozadilla, Ceres, Ping, Jie, Jia, Guochong, Long, Jirong, Li, Chao, Shen, Quanhu, Xie, Yuhan, Timofeeva, Maria N., Thomas, Minta, Schmit, Stephanie L., Díez-Obrero, Virginia, Devall, Matthew, Moratalla-Navarro, Ferran, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah E. W., Svinti, Victoria, Donnelly, Kevin, Farrington, Susan M., Blackmur, James, Vaughan-Shaw, Peter G., Shu, Xiao-Ou, Lu, Yingchang, Broderick, Peter, Studd, James, Harrison, Tabitha A., Conti, David V., Schumacher, Fredrick R., Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martín-Sánchez, Vicente, Oh, Jae Hwan, Kim, Jeongseon, Jee, Sun Ha, Jung, Keum Ji, Kweon, Sun-Seog, Shin, Min-Ho, Shin, Aesun, Ahn, Yoon-Ok, Kim, Dong-Hyun, Oze, Isao, Wen, Wanqing, Matsuo, Keitaro, Matsuda, Koichi, Tanikawa, Chizu, Ren, Zefang, Gao, Yu-Tang, Jia, Wei-Hua, Hopper, John L., Jenkins, Mark A., Win, Aung Ko, Pai, Rish K., Figueiredo, Jane C., Haile, Robert W., Gallinger, Steven, Woods, Michael O., Newcomb, Polly A., Duggan, David, Cheadle, Jeremy P., Kaplan, Richard, Kerr, Rachel, Kerr, David, Kirac, Iva, Böhm, Jan, Mecklin, Jukka-Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri A., Rissanen, Harri, Pukkala, Eero, Eriksson, Johan G., Cajuso, Tatiana, Hänninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie J., Ruiz-Narvaez, Edward, Palmer, Julie R., Buchanan, Daniel D., Platz, Elizabeth A., Visvanathan, Kala, Ulrich, Cornelia M., Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter T., Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Slattery, Martha L., Potter, John D., Tsilidis, Kostas K., Schulze, Matthias B., Gunter, Marc J., Murphy, Neil, Castells, Antoni, Castellví-Bel, Sergi, Moreira, Leticia, Arndt, Volker, Shcherbina, Anna, Bishop, D. Timothy, Giles, Graham G., Southey, Melissa C., Idos, Gregory E., McDonnell, Kevin J., Abu-Ful, Zomoroda, Greenson, Joel K., Shulman, Katerina, Lejbkowicz, Flavio, Offit, Kenneth, Su, Yu-Ru, Steinfelder, Robert, Keku, Temitope O., van Guelpen, Bethany, Hudson, Thomas J., Hampel, Heather, Pearlman, Rachel, Berndt, Sonja I., Hayes, Richard B., Martinez, Marie Elena, Thomas, Sushma S., Pharoah, Paul D. P., Larsson, Susanna C., Yen, Yun, Lenz, Heinz-Josef, White, Emily, Li, Li, Doheny, Kimberly F., Pugh, Elizabeth, Shelford, Tameka, Chan, Andrew T., Cruz-Correa, Marcia, Lindblom, Annika, Hunter, David J., Joshi, Amit D., Schafmayer, Clemens, Scacheri, Peter C., Kundaje, Anshul, Schoen, Robert E., Hampe, Jochen, Stadler, Zsofia K., Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Edlund, Christopher K., Gauderman, W. James, Shibata, David, Toland, Amanda, Markowitz, Sanford, Kim, Andre, Chanock, Stephen J., van Duijnhoven, Franzel, Feskens, Edith J. M., Sakoda, Lori C., Gago-Dominguez, Manuela, Wolk, Alicja, Pardini, Barbara, FitzGerald, Liesel M., Lee, Soo Chin, Ogino, Shuji, Bien, Stephanie A., Kooperberg, Charles, Li, Christopher I., Lin, Yi, Prentice, Ross, Qu, Conghui, Bézieau, Stéphane, Yamaji, Taiki, Sawada, Norie, Iwasaki, Motoki, Le Marchand, Loic, Wu, Anna H., Qu, Chenxu, McNeil, Caroline E., Coetzee, Gerhard, Hayward, Caroline, Deary, Ian J., Harris, Sarah E., Theodoratou, Evropi, Reid, Stuart, Walker, Marion, Ooi, Li Yin, Lau, Ken S., Zhao, Hongyu, Hsu, Li, Cai, Qiuyin, Dunlop, Malcolm G., Gruber, Stephen B., Houlston, Richard S., Moreno, Victor, Casey, Graham, Peters, Ulrike, Tomlinson, Ian, and Zheng, Wei

Published
2024
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3. Current tobacco smoking and risk of SARS-CoV-2 infection and hospitalization: Evaluating the role of socio-demographic factors and comorbidities.

Author

Young-Wolff, Kelly C, Slama, Natalie, Sakoda, Lori C, Prochaska, Judith J, Fogelberg, Renee, and Alexeeff, Stacey E

Subjects
Humans, Cardiovascular Diseases, Diabetes Mellitus, Hospitalization, Risk Factors, Retrospective Studies, Comorbidity, Adult, Tobacco Smoking, COVID-19, SARS-CoV-2, Ethnicity, Age, Comorbidities, Nicotine, Race, Smoking, Tobacco, Pneumonia & Influenza, Tobacco Smoke and Health, Infectious Diseases, Prevention, Pneumonia, Vaccine Related, Lung, Cardiovascular, Good Health and Well Being, Human Movement and Sports Sciences, Public Health and Health Services, Public Health
Abstract

Our recently published study of >2.4 million adults in Northern California indicated that current versus never-tobacco smoking was associated with lower risk of SARS-CoV-2 infection and less severe coronavirus disease 2019 (COVID-19). We extended this research by evaluating whether these associations were moderated by socio-demographic factors and medical comorbidities. This retrospective cohort study of 1,885,826 adults with current or never-smoking status in Kaiser Permanente Northern California from 3/5/2020 (baseline) to 12/31/2020 (pre-vaccine) included electronic health record-based socio-demographics (sex, age, race/ethnicity, neighborhood deprivation index (NDI)) and medical comorbidities (obesity, cardiovascular conditions, diabetes, renal disease, respiratory conditions). We estimated the adjusted risk of SARS-CoV-2 infection and hospitalization (≤30 days of infection) associated with smoking status using Cox proportional hazard regression models. We estimated associations within subgroups of socio-demographics and comorbidities, and tested for effect modification using interaction terms. During the study, 35,627 patients had SARS-CoV-2 infection. Current versus never-smoking status was associated with lower adjusted rates of SARS-CoV-2 infection (aHR ranging from 0.51 to 0.89) and hospitalization (aHR ranging from 0.32 to 0.70) within nearly every socio-demographic and comorbidity subgroup. Statistically significant interactions showed that the magnitude of protection for SARS-CoV-2 infection varied by sex, age, race/ethnicity, NDI, cardiovascular conditions and diabetes, and for SARS-CoV-2 hospitalization by age and renal disease. Taken together, results indicated that while some socio-demographics and comorbidities moderated the associations, the lower risk of SARS-CoV-2 infection and hospitalization associated with current versus never-smoking status persisted among patients regardless of socio-demographics or comorbidities.

Published
2023

4. Tobacco Smoking and Risk of SARS-CoV-2 Infection and Disease Severity Among Adults in an Integrated Healthcare System in California

Author

Young-Wolff, Kelly C, Slama, Natalie, Alexeeff, Stacey E, Sakoda, Lori C, Fogelberg, Renee, Myers, Laura C, Campbell, Cynthia I, Adams, Alyce S, and Prochaska, Judith J

Subjects
Health Services and Systems, Health Sciences, Vaccine Related, Immunization, Tobacco, Prevention, Coronaviruses, Infectious Diseases, Clinical Research, Emerging Infectious Diseases, Tobacco Smoke and Health, Infection, Respiratory, Good Health and Well Being, Humans, Adult, COVID-19 Testing, Cohort Studies, Retrospective Studies, COVID-19, SARS-CoV-2, Tobacco Smoking, California, Patient Acuity, Hospitalization, Delivery of Health Care, Integrated, Clinical Sciences, Public Health and Health Services, Marketing, Public Health, Epidemiology, Public health
Abstract

IntroductionThe relationship between tobacco smoking status and SARS-CoV-2 infection and coronavirus disease 2019 (COVID-19) severity is highly debated. We conducted a retrospective cohort study of >2.4 million adults in a large healthcare system to evaluate whether smoking is associated with SARS-CoV-2 infection and disease severity.Aims and methodsThis retrospective cohort study of 2,427,293 adults in KPNC from March 5, 2020 (baseline) to December 31, 2020 (pre-vaccine) included smoking status (current, former, never), socio-demographics, and comorbidities from the electronic health record. SARS-CoV-2 infection (identified by a positive PCR test) and COVID-19 severity (hospitalization, ICU admission or death ≤ 30 days of COVID-19 diagnosis) were estimated in time-to-event analyses using Cox proportional hazard regression models adjusting for covariates. Secondary analyses examined COVID-19 severity among patients with COVID-19 using logistic regression.ResultsDuring the study, 44,270 patients had SARS-CoV-2 infection. Current smoking was associated with lower adjusted rates of SARS-CoV-2 infection (aHR = 0.64 95% CI: 0.61-0.67), COVID-19-related hospitalization (aHR = 0.48 95% CI: 0.40-0.58), ICU admission (aHR = 0.62 95% CI: 0.42-0.87), and death (aHR = 0.52 95% CI: 0.27-0.89) than never-smoking. Former smoking was associated with a lower adjusted rate of SARS-CoV-2 infection (aHR = 0.96 95% CI: 0.94-0.99) and higher adjusted rates of hospitalization (aHR = 1.10 95% CI: 1.03-1.08) and death (aHR = 1.32 95% CI: 1.11-1.56) than never-smoking. Logistic regression analyses among patients with COVID-19 found lower odds of hospitalization for current versus never-smoking and higher odds of hospitalization and death for former versus never-smoking.ConclusionsIn the largest US study to date on smoking and COVID-19, current and former smoking showed lower risk of SARS-CoV-2 infection than never-smoking, while a history of smoking was associated with higher risk of severe COVID-19.ImplicationsIn this cohort study of 2.4 million adults, adjusting for socio-demographics and medical comorbidities, current tobacco smoking was associated with a lower risk of both SARS-CoV-2 infection and severe COVID-19 illness compared to never-smoking. A history of smoking was associated with a slightly lower risk of SARS-CoV-2 infection and a modestly higher risk of severe COVID-19 illness compared to never-smoking. The lower observed COVID-19 risk for current versus never-smoking deserves further investigation. Results support prioritizing individuals with smoking-related comorbidities for vaccine outreach and treatments as they become available.

Published
2023

5. Electronic cigarette use and risk of COVID-19 among young adults without a history of cigarette smoking

Author

Young-Wolff, Kelly C, Slama, Natalie E, Alexeeff, Stacey E, Prochaska, Judith J, Fogelberg, Renee, and Sakoda, Lori C

Subjects
Epidemiology, Public Health, Health Sciences, Substance Misuse, Prevention, Clinical Research, Tobacco Smoke and Health, Tobacco, Good Health and Well Being, COVID-19, Cigarette Smoking, Electronic Nicotine Delivery Systems, Humans, Retrospective Studies, Smoking Cessation, Vaping, Young Adult, Electronic cigarette, SARS-CoV-2, e -cigarette, e-cigarette, Human Movement and Sports Sciences, Public Health and Health Services, Public health
Abstract

It is unknown whether use of e-cigarettes increases susceptibility to COVID-19. In a large clinical sample of young adults, we evaluated whether current or ever e-cigarette use was associated with polymerase chain reaction (PCR)-confirmed COVID-19. To address the confounding of combustible smoking, the sample was restricted to never smokers. This retrospective cohort study analyzed data from the electronic health records of 74,853 young adults (aged 18-35 years), without a history of cigarette smoking, who were screened for e-cigarette use (current, former, never) in the Kaiser Permanente Northern California (KPNC) healthcare system from 3/5/2020 (baseline) to 11/30/2020 (pre-vaccine). COVID-19 risk was estimated in time-to-event analyses using multivariable Cox proportional hazard regression models, adjusted for socio-demographics and medical comorbidities. E-cigarette status in the cohort was: 1.6% current, 1.2% former, and 97.2% never. During follow-up, 1965 (2.6%) patients acquired COVID-19. We did not find evidence that current (vs never) e-cigarette use was associated with risk of COVID-19 (aHR = 1.12 95%CI:0.77-1.62). However, we did find suggestive evidence that former (versus never) e-cigarette use may be associated with greater risk of COVID-19 (aHR = 1.39 95%CI:0.98-1.96). While e-cigarette use is associated with health risks for young adults, results from this study suggest that current use of e-cigarettes may not increase susceptibility for COVID-19 among young adults who have never smoked cigarettes.

Published
2022

6. Function, cognition, and quality of life among older adults with lung cancer who live alone: A prospective cohort study

Author

Singhal, Surbhi, Walter, Louise C., Smith, Alexander K., Boscardin, W. John, Shi, Ying, Cohen, Harvey Jay, Presley, Carolyn J., Kushi, Lawrence H., Giri, Smith, Magnuson, Allison, Williams, Grant R., Velazquez, Ana I., Lee, Howard J., Jr, Sakoda, Lori C., Quesenberry, Charles P., Falvey, Jason R., Van Dyk, Kathleen M., and Wong, Melisa L.

Published
2024
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7. Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer.

Author

Byun, Jinyoung, Han, Younghun, Li, Yafang, Xia, Jun, Long, Erping, Choi, Jiyeon, Xiao, Xiangjun, Zhu, Meng, Zhou, Wen, Sun, Ryan, Bossé, Yohan, Song, Zhuoyi, Schwartz, Ann, Lusk, Christine, Rafnar, Thorunn, Stefansson, Kari, Zhang, Tongwu, Zhao, Wei, Pettit, Rowland W, Liu, Yanhong, Li, Xihao, Zhou, Hufeng, Walsh, Kyle M, Gorlov, Ivan, Gorlova, Olga, Zhu, Dakai, Rosenberg, Susan M, Pinney, Susan, Bailey-Wilson, Joan E, Mandal, Diptasri, de Andrade, Mariza, Gaba, Colette, Willey, James C, You, Ming, Anderson, Marshall, Wiencke, John K, Albanes, Demetrius, Lam, Stephan, Tardon, Adonina, Chen, Chu, Goodman, Gary, Bojeson, Stig, Brenner, Hermann, Landi, Maria Teresa, Chanock, Stephen J, Johansson, Mattias, Muley, Thomas, Risch, Angela, Wichmann, H-Erich, Bickeböller, Heike, Christiani, David C, Rennert, Gad, Arnold, Susanne, Field, John K, Shete, Sanjay, Le Marchand, Loic, Melander, Olle, Brunnstrom, Hans, Liu, Geoffrey, Andrew, Angeline S, Kiemeney, Lambertus A, Shen, Hongbing, Zienolddiny, Shanbeh, Grankvist, Kjell, Johansson, Mikael, Caporaso, Neil, Cox, Angela, Hong, Yun-Chul, Yuan, Jian-Min, Lazarus, Philip, Schabath, Matthew B, Aldrich, Melinda C, Patel, Alpa, Lan, Qing, Rothman, Nathaniel, Taylor, Fiona, Kachuri, Linda, Witte, John S, Sakoda, Lori C, Spitz, Margaret, Brennan, Paul, Lin, Xihong, McKay, James, Hung, Rayjean J, and Amos, Christopher I

Subjects
Humans, Lung Neoplasms, Genetic Predisposition to Disease, RNA-Binding Proteins, DNA-Binding Proteins, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Genome-Wide Association Study, Human Genome, Cancer, Genetics, Lung, 2.1 Biological and endogenous factors, Aetiology, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

To identify new susceptibility loci to lung cancer among diverse populations, we performed cross-ancestry genome-wide association studies in European, East Asian and African populations and discovered five loci that have not been previously reported. We replicated 26 signals and identified 10 new lead associations from previously reported loci. Rare-variant associations tended to be specific to populations, but even common-variant associations influencing smoking behavior, such as those with CHRNA5 and CYP2A6, showed population specificity. Fine-mapping and expression quantitative trait locus colocalization nominated several candidate variants and susceptibility genes such as IRF4 and FUBP1. DNA damage assays of prioritized genes in lung fibroblasts indicated that a subset of these genes, including the pleiotropic gene IRF4, potentially exert effects by promoting endogenous DNA damage.

Published
2022

8. Genome-Wide Interaction Analysis of Genetic Variants With Menopausal Hormone Therapy for Colorectal Cancer Risk.

Author

Tian, Yu, Kim, Andre E, Bien, Stephanie A, Lin, Yi, Qu, Conghui, Harrison, Tabitha A, Carreras-Torres, Robert, Díez-Obrero, Virginia, Dimou, Niki, Drew, David A, Hidaka, Akihisa, Huyghe, Jeroen R, Jordahl, Kristina M, Morrison, John, Murphy, Neil, Obón-Santacana, Mireia, Ulrich, Cornelia M, Ose, Jennifer, Peoples, Anita R, Ruiz-Narvaez, Edward A, Shcherbina, Anna, Stern, Mariana C, Su, Yu-Ru, van Duijnhoven, Franzel JB, Arndt, Volker, Baurley, James W, Berndt, Sonja I, Bishop, D Timothy, Brenner, Hermann, Buchanan, Daniel D, Chan, Andrew T, Figueiredo, Jane C, Gallinger, Steven, Gruber, Stephen B, Harlid, Sophia, Hoffmeister, Michael, Jenkins, Mark A, Joshi, Amit D, Keku, Temitope O, Larsson, Susanna C, Le Marchand, Loic, Li, Li, Giles, Graham G, Milne, Roger L, Nan, Hongmei, Nassir, Rami, Ogino, Shuji, Budiarto, Arif, Platz, Elizabeth A, Potter, John D, Prentice, Ross L, Rennert, Gad, Sakoda, Lori C, Schoen, Robert E, Slattery, Martha L, Thibodeau, Stephen N, Van Guelpen, Bethany, Visvanathan, Kala, White, Emily, Wolk, Alicja, Woods, Michael O, Wu, Anna H, Campbell, Peter T, Casey, Graham, Conti, David V, Gunter, Marc J, Kundaje, Anshul, Lewinger, Juan Pablo, Moreno, Victor, Newcomb, Polly A, Pardamean, Bens, Thomas, Duncan C, Tsilidis, Konstantinos K, Peters, Ulrike, Gauderman, W James, Hsu, Li, and Chang-Claude, Jenny

Subjects
Humans, Colorectal Neoplasms, Estrogens, Progestins, Risk Factors, Case-Control Studies, Menopause, Polymorphism, Single Nucleotide, Female, Aging, Digestive Diseases, Estrogen, Colo-Rectal Cancer, Genetics, Prevention, Human Genome, Clinical Research, Cancer, 2.1 Biological and endogenous factors, Aetiology, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

BackgroundThe use of menopausal hormone therapy (MHT) may interact with genetic variants to influence colorectal cancer (CRC) risk.MethodsWe conducted a genome-wide, gene-environment interaction between single nucleotide polymorphisms and the use of any MHT, estrogen only, and combined estrogen-progestogen therapy with CRC risk, among 28 486 postmenopausal women (11 519 CRC patients and 16 967 participants without CRC) from 38 studies, using logistic regression, 2-step method, and 2- or 3-degree-of-freedom joint test. A set-based score test was applied for rare genetic variants.ResultsThe use of any MHT, estrogen only and estrogen-progestogen were associated with a reduced CRC risk (odds ratio [OR] = 0.71, 95% confidence interval [CI] = 0.64 to 0.78; OR = 0.65, 95% CI = 0.53 to 0.79; and OR = 0.73, 95% CI = 0.59 to 0.90, respectively). The 2-step method identified a statistically significant interaction between a GRIN2B variant rs117868593 and MHT use, whereby MHT-associated CRC risk was statistically significantly reduced in women with the GG genotype (OR = 0.68, 95% CI = 0.64 to 0.72) but not within strata of GC or CC genotypes. A statistically significant interaction between a DCBLD1 intronic variant at 6q22.1 (rs10782186) and MHT use was identified by the 2-degree-of-freedom joint test. The MHT-associated CRC risk was reduced with increasing number of rs10782186-C alleles, showing odds ratios of 0.78 (95% CI = 0.70 to 0.87) for TT, 0.68 (95% CI = 0.63 to 0.73) for TC, and 0.66 (95% CI = 0.60 to 0.74) for CC genotypes. In addition, 5 genes in rare variant analysis showed suggestive interactions with MHT (2-sided P

Published
2022

9. Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations

Author

Thomas, Minta, Su, Yu-Ru, Rosenthal, Elisabeth A., Sakoda, Lori C., Schmit, Stephanie L., Timofeeva, Maria N., Chen, Zhishan, Fernandez-Rozadilla, Ceres, Law, Philip J., Murphy, Neil, Carreras-Torres, Robert, Diez-Obrero, Virginia, van Duijnhoven, Franzel J. B., Jiang, Shangqing, Shin, Aesun, Wolk, Alicja, Phipps, Amanda I., Burnett-Hartman, Andrea, Gsur, Andrea, Chan, Andrew T., Zauber, Ann G., Wu, Anna H., Lindblom, Annika, Um, Caroline Y., Tangen, Catherine M., Gignoux, Chris, Newton, Christina, Haiman, Christopher A., Qu, Conghui, Bishop, D. Timothy, Buchanan, Daniel D., Crosslin, David R., Conti, David V., Kim, Dong-Hyun, Hauser, Elizabeth, White, Emily, Siegel, Erin, Schumacher, Fredrick R., Rennert, Gad, Giles, Graham G., Hampel, Heather, Brenner, Hermann, Oze, Isao, Oh, Jae Hwan, Lee, Jeffrey K., Schneider, Jennifer L., Chang-Claude, Jenny, Kim, Jeongseon, Huyghe, Jeroen R., Zheng, Jiayin, Hampe, Jochen, Greenson, Joel, Hopper, John L., Palmer, Julie R., Visvanathan, Kala, Matsuo, Keitaro, Matsuda, Koichi, Jung, Keum Ji, Li, Li, Le Marchand, Loic, Vodickova, Ludmila, Bujanda, Luis, Gunter, Marc J., Matejcic, Marco, Jenkins, Mark A., Slattery, Martha L., D’Amato, Mauro, Wang, Meilin, Hoffmeister, Michael, Woods, Michael O., Kim, Michelle, Song, Mingyang, Iwasaki, Motoki, Du, Mulong, Udaltsova, Natalia, Sawada, Norie, Vodicka, Pavel, Campbell, Peter T., Newcomb, Polly A., Cai, Qiuyin, Pearlman, Rachel, Pai, Rish K., Schoen, Robert E., Steinfelder, Robert S., Haile, Robert W., Vandenputtelaar, Rosita, Prentice, Ross L., Küry, Sébastien, Castellví-Bel, Sergi, Tsugane, Shoichiro, Berndt, Sonja I., Lee, Soo Chin, Brezina, Stefanie, Weinstein, Stephanie J., Chanock, Stephen J., Jee, Sun Ha, Kweon, Sun-Seog, Vadaparampil, Susan, Harrison, Tabitha A., Yamaji, Taiki, Keku, Temitope O., Vymetalkova, Veronika, Arndt, Volker, Jia, Wei-Hua, Shu, Xiao-Ou, Lin, Yi, Ahn, Yoon-Ok, Stadler, Zsofia K., Van Guelpen, Bethany, Ulrich, Cornelia M., Platz, Elizabeth A., Potter, John D., Li, Christopher I., Meester, Reinier, Moreno, Victor, Figueiredo, Jane C., Casey, Graham, Lansdorp Vogelaar, Iris, Dunlop, Malcolm G., Gruber, Stephen B., Hayes, Richard B., Pharoah, Paul D. P., Houlston, Richard S., Jarvik, Gail P., Tomlinson, Ian P., Zheng, Wei, Corley, Douglas A., Peters, Ulrike, and Hsu, Li

Published
2023
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11. Accounting for EGFR mutations in epidemiological analyses of non-small cell lung cancers: Examples based on the International Lung Cancer Consortium data

Author

Schmid, Sabine, Jiang, Mei, Brown, M Catherine, Fares, Aline, Garcia, Miguel, Soriano, Joelle, Dong, Mei, Thomas, Sera, Kohno, Takashi, Leal, Leticia Ferro, Diao, Nancy, Xie, Juntao, Wang, Zhichao, Zaridze, David, Holcatova, Ivana, Lissowska, Jolanta, Świątkowska, Beata, Mates, Dana, Savic, Milan, Wenzlaff, Angela S, Harris, Curtis C, Caporaso, Neil E, Ma, Hongxia, Fernandez-Tardon, Guillermo, Barnett, Matthew J, Goodman, Gary, Davies, Michael PA, Pérez-Ríos, Mónica, Taylor, Fiona, Duell, Eric J, Schoettker, Ben, Brenner, Hermann, Andrew, Angeline, Cox, Angela, Ruano-Ravina, Alberto, Field, John K, Marchand, Loic Le, Wang, Ying, Chen, Chu, Tardon, Adonina, Shete, Sanjay, Schabath, Matthew B, Shen, Hongbing, Landi, Maria Teresa, Ryan, Brid M, Schwartz, Ann G, Qi, Lihong, Sakoda, Lori C, Brennan, Paul, Yang, Ping, Zhang, Jie, Christiani, David C, Reis, Rui Manuel, Shiraishi, Kouya, Hung, Rayjean J, Xu, Wei, and Liu, Geoffrey

Subjects
Lung, Lung Cancer, Cancer, Prevention, Carcinoma, Non-Small-Cell Lung, ErbB Receptors, Humans, Lung Neoplasms, Mutation, Survival Analysis, Medical and Health Sciences, Epidemiology
Abstract

BackgroundSomatic EGFR mutations define a subset of non-small cell lung cancers (NSCLC) that have clinical impact on NSCLC risk and outcome. However, EGFR-mutation-status is often missing in epidemiologic datasets. We developed and tested pragmatic approaches to account for EGFR-mutation-status based on variables commonly included in epidemiologic datasets and evaluated the clinical utility of these approaches.MethodsThrough analysis of the International Lung Cancer Consortium (ILCCO) epidemiologic datasets, we developed a regression model for EGFR-status; we then applied a clinical-restriction approach using the optimal cut-point, and a second epidemiologic, multiple imputation approach to ILCCO survival analyses that did and did not account for EGFR-status.ResultsOf 35,356 ILCCO patients with NSCLC, EGFR-mutation-status was available in 4,231 patients. A model regressing known EGFR-mutation-status on clinical and demographic variables achieved a concordance index of 0.75 (95% CI, 0.74-0.77) in the training and 0.77 (95% CI, 0.74-0.79) in the testing dataset. At an optimal cut-point of probability-score = 0.335, sensitivity = 69% and specificity = 72.5% for determining EGFR-wildtype status. In both restriction-based and imputation-based regression analyses of the individual roles of BMI on overall survival of patients with NSCLC, similar results were observed between overall and EGFR-mutation-negative cohort analyses of patients of all ancestries. However, our approach identified some differences: EGFR-mutated Asian patients did not incur a survival benefit from being obese, as observed in EGFR-wildtype Asian patients.ConclusionsWe introduce a pragmatic method to evaluate the potential impact of EGFR-status on epidemiological analyses of NSCLC.ImpactThe proposed method is generalizable in the common occurrence in which EGFR-status data are missing.

Published
2022

12. Assessment of genetic susceptibility to multiple primary cancers through whole-exome sequencing in two large multi-ancestry studies

Author

Cavazos, Taylor B, Kachuri, Linda, Graff, Rebecca E, Nierenberg, Jovia L, Thai, Khanh K, Alexeeff, Stacey, Van Den Eeden, Stephen, Corley, Douglas A, Kushi, Lawrence H, Hoffmann, Thomas J, Ziv, Elad, Habel, Laurel A, Jorgenson, Eric, Sakoda, Lori C, and Witte, John S

Subjects
Health Services and Systems, Biomedical and Clinical Sciences, Health Sciences, Oncology and Carcinogenesis, Genetic Testing, Prevention, Cancer, Genetics, Clinical Research, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Exome, Genetic Predisposition to Disease, Humans, Neoplasms, Multiple Primary, Phenotype, Exome Sequencing, Multiple primary cancers, Pleiotropy, Whole-exome sequencing, Germline genetics, Regeneron Genetics Center, Medical and Health Sciences, General & Internal Medicine, Biomedical and clinical sciences, Health sciences
Abstract

BackgroundUp to one of every six individuals diagnosed with one cancer will be diagnosed with a second primary cancer in their lifetime. Genetic factors contributing to the development of multiple primary cancers, beyond known cancer syndromes, have been underexplored.MethodsTo characterize genetic susceptibility to multiple cancers, we conducted a pan-cancer, whole-exome sequencing study of individuals drawn from two large multi-ancestry populations (6429 cases, 165,853 controls). We created two groupings of individuals diagnosed with multiple primary cancers: (1) an overall combined set with at least two cancers across any of 36 organ sites and (2) cancer-specific sets defined by an index cancer at one of 16 organ sites with at least 50 cases from each study population. We then investigated whether variants identified from exome sequencing were associated with these sets of multiple cancer cases in comparison to individuals with one and, separately, no cancers.ResultsWe identified 22 variant-phenotype associations, 10 of which have not been previously discovered and were significantly overrepresented among individuals with multiple cancers, compared to those with a single cancer.ConclusionsOverall, we describe variants and genes that may play a fundamental role in the development of multiple primary cancers and improve our understanding of shared mechanisms underlying carcinogenesis.

Published
2022

14. Prognostic role of detailed colorectal location and tumor molecular features: analyses of 13,101 colorectal cancer patients including 2994 early-onset cases

Author

Ugai, Tomotaka, Akimoto, Naohiko, Haruki, Koichiro, Harrison, Tabitha A., Cao, Yin, Qu, Conghui, Chan, Andrew T., Campbell, Peter T., Berndt, Sonja I., Buchanan, Daniel D., Cross, Amanda J., Diergaarde, Brenda, Gallinger, Steven J., Gunter, Marc J., Harlid, Sophia, Hidaka, Akihisa, Hoffmeister, Michael, Brenner, Hermann, Chang-Claude, Jenny, Hsu, Li, Jenkins, Mark A., Lin, Yi, Milne, Roger L., Moreno, Victor, Newcomb, Polly A., Nishihara, Reiko, Obon-Santacana, Mireia, Pai, Rish K., Sakoda, Lori C., Schoen, Robert E., Slattery, Martha L., Sun, Wei, Amitay, Efrat L., Alwers, Elizabeth, Thibodeau, Stephen N., Toland, Amanda E., Van Guelpen, Bethany, Zaidi, Syed H., Potter, John D., Meyerhardt, Jeffrey A., Giannakis, Marios, Song, Mingyang, Nowak, Jonathan A., Peters, Ulrike, Phipps, Amanda I., and Ogino, Shuji

Published
2023
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15. Genetically predicted circulating concentrations of micronutrients and risk of colorectal cancer among individuals of European descent: a Mendelian randomization study

Author

Tsilidis, Konstantinos K, Papadimitriou, Nikos, Dimou, Niki, Gill, Dipender, Lewis, Sarah J, Martin, Richard M, Murphy, Neil, Markozannes, Georgios, Zuber, Verena, Cross, Amanda J, Burrows, Kimberley, Lopez, David S, Key, Timothy J, Travis, Ruth C, Perez-Cornago, Aurora, Hunter, David J, van Duijnhoven, Fränzel JB, Albanes, Demetrius, Arndt, Volker, Berndt, Sonja I, Bézieau, Stéphane, Bishop, D Timothy, Boehm, Juergen, Brenner, Hermann, Burnett-Hartman, Andrea, Campbell, Peter T, Casey, Graham, Castellví-Bel, Sergi, Chan, Andrew T, Chang-Claude, Jenny, de la Chapelle, Albert, Figueiredo, Jane C, Gallinger, Steven J, Giles, Graham G, Goodman, Phyllis J, Gsur, Andrea, Hampe, Jochen, Hampel, Heather, Hoffmeister, Michael, Jenkins, Mark A, Keku, Temitope O, Kweon, Sun-Seog, Larsson, Susanna C, Le Marchand, Loic, Li, Christopher I, Li, Li, Lindblom, Annika, Martín, Vicente, Milne, Roger L, Moreno, Victor, Nan, Hongmei, Nassir, Rami, Newcomb, Polly A, Offit, Kenneth, Pharoah, Paul DP, Platz, Elizabeth A, Potter, John D, Qi, Lihong, Rennert, Gad, Sakoda, Lori C, Schafmayer, Clemens, Slattery, Martha L, Snetselaar, Linda, Schenk, Jeanette, Thibodeau, Stephen N, Ulrich, Cornelia M, Van Guelpen, Bethany, Harlid, Sophia, Visvanathan, Kala, Vodickova, Ludmila, Wang, Hansong, White, Emily, Wolk, Alicja, Woods, Michael O, Wu, Anna H, Zheng, Wei, Bueno-de-Mesquita, Bas, Boutron-Ruault, Marie-Christine, Hughes, David J, Jakszyn, Paula, Kühn, Tilman, Palli, Domenico, Riboli, Elio, Giovannucci, Edward L, Banbury, Barbara L, Gruber, Stephen B, Peters, Ulrike, Gunter, Marc J, and on behalf of GECCO, CORECT

Subjects
Complementary and Integrative Health, Digestive Diseases, Clinical Research, Clinical Trials and Supportive Activities, Cancer, Colo-Rectal Cancer, Prevention, Nutrition, Prevention of disease and conditions, and promotion of well-being, 3.3 Nutrition and chemoprevention, Case-Control Studies, Colorectal Neoplasms, Dietary Supplements, Genetic Predisposition to Disease, Humans, Mendelian Randomization Analysis, Micronutrients, Risk Factors, Selenium, Vitamin B 12, White People, Mendelian randomization, genes, nutrition, supplements, colorectal cancer, Engineering, Medical and Health Sciences, Nutrition & Dietetics
Abstract

BackgroundThe literature on associations of circulating concentrations of minerals and vitamins with risk of colorectal cancer is limited and inconsistent. Evidence from randomized controlled trials (RCTs) to support the efficacy of dietary modification or nutrient supplementation for colorectal cancer prevention is also limited.ObjectivesTo complement observational and RCT findings, we investigated associations of genetically predicted concentrations of 11 micronutrients (β-carotene, calcium, copper, folate, iron, magnesium, phosphorus, selenium, vitamin B-6, vitamin B-12, and zinc) with colorectal cancer risk using Mendelian randomization (MR).MethodsTwo-sample MR was conducted using 58,221 individuals with colorectal cancer and 67,694 controls from the Genetics and Epidemiology of Colorectal Cancer Consortium, Colorectal Cancer Transdisciplinary Study, and Colon Cancer Family Registry. Inverse variance-weighted MR analyses were performed with sensitivity analyses to assess the impact of potential violations of MR assumptions.ResultsNominally significant associations were noted for genetically predicted iron concentration and higher risk of colon cancer [ORs per SD (ORSD): 1.08; 95% CI: 1.00, 1.17; P value = 0.05] and similarly for proximal colon cancer, and for vitamin B-12 concentration and higher risk of colorectal cancer (ORSD: 1.12; 95% CI: 1.03, 1.21; P value = 0.01) and similarly for colon cancer. A nominally significant association was also noted for genetically predicted selenium concentration and lower risk of colon cancer (ORSD: 0.98; 95% CI: 0.96, 1.00; P value = 0.05) and similarly for distal colon cancer. These associations were robust to sensitivity analyses. Nominally significant inverse associations were observed for zinc and risk of colorectal and distal colon cancers, but sensitivity analyses could not be performed. None of these findings survived correction for multiple testing. Genetically predicted concentrations of β-carotene, calcium, copper, folate, magnesium, phosphorus, and vitamin B-6 were not associated with disease risk.ConclusionsThese results suggest possible causal associations of circulating iron and vitamin B-12 (positively) and selenium (inversely) with risk of colon cancer.

Published
2021

17. A Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer Susceptibility

Author

Emami, Nima C, Cavazos, Taylor B, Rashkin, Sara R, Cario, Clinton L, Graff, Rebecca E, Tai, Caroline G, Mefford, Joel A, Kachuri, Linda, Wan, Eunice, Wong, Simon, Aaronson, David, Presti, Joseph, Habel, Laurel A, Shan, Jun, Ranatunga, Dilrini K, Chao, Chun R, Ghai, Nirupa R, Jorgenson, Eric, Sakoda, Lori C, Kvale, Mark N, Kwok, Pui-Yan, Schaefer, Catherine, Risch, Neil, Hoffmann, Thomas J, Van Den Eeden, Stephen K, and Witte, John S

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Human Genome, Cancer, Urologic Diseases, Biotechnology, Aging, Prostate Cancer, Prevention, 2.1 Biological and endogenous factors, Aetiology, Genetic Predisposition to Disease, Genome-Wide Association Study, Genomics, Humans, Male, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Prostatic Neoplasms, Oncology & Carcinogenesis, Biochemistry and cell biology, Oncology and carcinogenesis
Abstract

To identify rare variants associated with prostate cancer susceptibility and better characterize the mechanisms and cumulative disease risk associated with common risk variants, we conducted an integrated study of prostate cancer genetic etiology in two cohorts using custom genotyping microarrays, large imputation reference panels, and functional annotation approaches. Specifically, 11,984 men (6,196 prostate cancer cases and 5,788 controls) of European ancestry from Northern California Kaiser Permanente were genotyped and meta-analyzed with 196,269 men of European ancestry (7,917 prostate cancer cases and 188,352 controls) from the UK Biobank. Three novel loci, including two rare variants (European ancestry minor allele frequency < 0.01, at 3p21.31 and 8p12), were significant genome wide in a meta-analysis. Gene-based rare variant tests implicated a known prostate cancer gene (HOXB13), as well as a novel candidate gene (ILDR1), which encodes a receptor highly expressed in prostate tissue and is related to the B7/CD28 family of T-cell immune checkpoint markers. Haplotypic patterns of long-range linkage disequilibrium were observed for rare genetic variants at HOXB13 and other loci, reflecting their evolutionary history. In addition, a polygenic risk score (PRS) of 188 prostate cancer variants was strongly associated with risk (90th vs. 40th-60th percentile OR = 2.62, P = 2.55 × 10-191). Many of the 188 variants exhibited functional signatures of gene expression regulation or transcription factor binding, including a 6-fold difference in log-probability of androgen receptor binding at the variant rs2680708 (17q22). Rare variant and PRS associations, with concomitant functional interpretation of risk mechanisms, can help clarify the full genetic architecture of prostate cancer and other complex traits. SIGNIFICANCE: This study maps the biological relationships between diverse risk factors for prostate cancer, integrating different functional datasets to interpret and model genome-wide data from over 200,000 men with and without prostate cancer.See related commentary by Lachance, p. 1637.

Published
2021

18. Genome-wide interaction analysis of folate for colorectal cancer risk

Author

Bouras, Emmanouil, Kim, Andre E., Lin, Yi, Morrison, John, Du, Mengmeng, Albanes, Demetrius, Barry, Elizabeth L., Baurley, James W., Berndt, Sonja I., Bien, Stephanie A., Bishop, Timothy D., Brenner, Hermann, Budiarto, Arif, Burnett-Hartman, Andrea, Campbell, Peter T., Carreras-Torres, Robert, Casey, Graham, Cenggoro, Tjeng Wawan, Chan, Andrew T., Chang-Claude, Jenny, Conti, David V., Cotterchio, Michelle, Devall, Matthew, Diez-Obrero, Virginia, Dimou, Niki, Drew, David A., Figueiredo, Jane C., Giles, Graham G., Gruber, Stephen B., Gunter, Marc J., Harrison, Tabitha A., Hidaka, Akihisa, Hoffmeister, Michael, Huyghe, Jeroen R., Joshi, Amit D., Kawaguchi, Eric S., Keku, Temitope O., Kundaje, Anshul, Le Marchand, Loic, Lewinger, Juan Pablo, Li, Li, Lynch, Brigid M., Mahesworo, Bharuno, Männistö, Satu, Moreno, Victor, Murphy, Neil, Newcomb, Polly A., Obón-Santacana, Mireia, Ose, Jennifer, Palmer, Julie R., Papadimitriou, Nikos, Pardamean, Bens, Pellatt, Andrew J., Peoples, Anita R., Platz, Elizabeth A., Potter, John D., Qi, Lihong, Qu, Conghui, Rennert, Gad, Ruiz-Narvaez, Edward, Sakoda, Lori C., Schmit, Stephanie L., Shcherbina, Anna, Stern, Mariana C., Su, Yu-Ru, Tangen, Catherine M., Thomas, Duncan C., Tian, Yu, Um, Caroline Y., van Duijnhoven, Franzel JB., Van Guelpen, Bethany, Visvanathan, Kala, Wang, Jun, White, Emily, Wolk, Alicja, Woods, Michael O., Ulrich, Cornelia M., Hsu, Li, Gauderman, W James, Peters, Ulrike, and Tsilidis, Konstantinos K.

Published
2023
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20. Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes

Author

Wang, Xiaoliang, Huyghe, Jeroen R., Joo, Jihoon E., Georgeson, Peter, Arndt, Volker, Berndt, Sonja I., Bézieau, Stéphane, Bien, Stephanie A., Bishop, D. Timothy, Brenner, Hermann, Brezina, Stefanie, Burnett-Hartman, Andrea, Campbell, Peter T., Casey, Graham, Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Chen, Xuechen, Conti, David V., Cremolini, Chiara, Diergaarde, Brenda, Figueiredo, Jane C., FitzGerald, Liesel M., Gago-Dominguez, Manuela, Gallinger, Steven, Giles, Graham G., Gsu, Andrea, Gunter, Marc J., Hampe, Jochen, Hampel, Heather, Harrison, Tabitha A., Hoffmeister, Michael, Keku, Temitope O., Kundaje, Anshul, Le Marchand, Loic, Lenz, Heinz-Josef, Li, Christopher I., Li, Li, Lin, Yi, Lindblom, Annika, Moreno, Victor, Murphy, Neil, Newcomb, Polly A., Newton, Christina C., Obón-Santacana, Mireia, Ogino, Shuji, Pai, Rish K., Palmer, Julie R., Pearlman, Rachel, Pharoah, Paul D.P., Phipps, Amanda I., Platz, Elizabeth A., Potter, John D., Rennert, Gad, Sakoda, Lori C., Schafmayer, Clemens, Schmit, Stephanie L., Schoen, Robert E., Slattery, Martha L., Stadler, Zsofia K., Steinfelder, Robert S., Thibodeau, Stephen N., Ulrich, Cornelia M., Um, Caroline Y., van Duijnhoven, Franzel J.B., Van Guelpen, Bethany, Visvanathan, Kala, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Weinstein, Stephanie J., White, Emily, Winship, Ingrid M., Wolk, Alicja, Gruber, Stephen B., Jenkins, Mark A., Mahmood, Khalid, Thomas, Minta, Qu, Conghui, Hsu, Li, Buchanan, Daniel D., and Peters, Ulrike

Published
2023
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22. Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts.

Author

Graff, Rebecca E, Cavazos, Taylor B, Thai, Khanh K, Kachuri, Linda, Rashkin, Sara R, Hoffman, Joshua D, Alexeeff, Stacey E, Blatchins, Maruta, Meyers, Travis J, Leong, Lancelote, Tai, Caroline G, Emami, Nima C, Corley, Douglas A, Kushi, Lawrence H, Ziv, Elad, Van Den Eeden, Stephen K, Jorgenson, Eric, Hoffmann, Thomas J, Habel, Laurel A, Witte, John S, and Sakoda, Lori C

Subjects
Humans, Lung Neoplasms, Genetic Predisposition to Disease, Logistic Models, Risk Factors, Genotype, Adult, Aged, Middle Aged, Female, Male, Genome-Wide Association Study, Molecular Epidemiology, Biomarkers, Tumor, Biomarkers, Tumor
Abstract

Even distinct cancer types share biological hallmarks. Here, we investigate polygenic risk score (PRS)-specific pleiotropy across 16 cancers in European ancestry individuals from the Genetic Epidemiology Research on Adult Health and Aging cohort (16,012 cases, 50,552 controls) and UK Biobank (48,969 cases, 359,802 controls). Within cohorts, each PRS is evaluated in multivariable logistic regression models against all other cancer types. Results are then meta-analyzed across cohorts. Ten positive and one inverse cross-cancer associations are found after multiple testing correction. Two pairs show bidirectional associations; the melanoma PRS is positively associated with oral cavity/pharyngeal cancer and vice versa, whereas the lung cancer PRS is positively associated with oral cavity/pharyngeal cancer, and the oral cavity/pharyngeal cancer PRS is inversely associated with lung cancer. Overall, we validate known, and uncover previously unreported, patterns of pleiotropy that have the potential to inform investigations of risk prediction, shared etiology, and precision cancer prevention strategies.

Published
2021

23. Pathway Analysis of Renal Cell Carcinoma Genome-Wide Association Studies Identifies Novel Associations

Author

Purdue, Mark P, Song, Lei, Scélo, Ghislaine, Houlston, Richard S, Wu, Xifeng, Sakoda, Lori C, Thai, Khanh, Graff, Rebecca E, Rothman, Nathaniel, Brennan, Paul, Chanock, Stephen J, and Yu, Kai

Subjects
Epidemiology, Health Sciences, Human Genome, Genetics, Rare Diseases, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Carcinoma, Renal Cell, Genome-Wide Association Study, Humans, Medical and Health Sciences, Biomedical and clinical sciences, Health sciences
Abstract

BackgroundMuch of the heritable risk of renal cell carcinoma (RCC) associated with common genetic variation is unexplained. New analytic approaches have been developed to increase the discovery of risk variants in genome-wide association studies (GWAS), including multi-locus testing through pathway analysis.MethodsWe conducted a pathway analysis using GWAS summary data from six previous scans (10,784 cases and 20,406 controls) and evaluated 3,678 pathways and gene sets drawn from the Molecular Signatures Database. To replicate findings, we analyzed GWAS summary data from the UK Biobank (903 cases and 451,361 controls) and the Genetic Epidemiology Research on Adult Health and Aging cohort (317 cases and 50,511 controls).ResultsWe identified 14 pathways/gene sets associated with RCC in both the discovery (P < 1.36 × 10-5, the Bonferroni correction threshold) and replication (P < 0.05) sets, 10 of which include components of the PI3K/AKT pathway. In tests across 2,035 genes in these pathways, associations (Bonferroni corrected P < 2.46 × 10-5 in discovery and replication sets combined) were observed for CASP9, TIPIN, and CDKN2C. The strongest SNP signal was for rs12124078 (P Discovery = 2.6 × 10-5; P Replication = 1.5 × 10-4; P Combined = 6.9 × 10-8), a CASP9 expression quantitative trait locus.ConclusionsOur pathway analysis implicates genetic variation within the PI3K/AKT pathway as a source of RCC heritability and identifies several promising novel susceptibility genes, including CASP9, which warrant further investigation.ImpactOur findings illustrate the value of pathway analysis as a complementary approach to analyzing GWAS data.

Published
2020

24. Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.

Author

Rashkin, Sara R, Graff, Rebecca E, Kachuri, Linda, Thai, Khanh K, Alexeeff, Stacey E, Blatchins, Maruta A, Cavazos, Taylor B, Corley, Douglas A, Emami, Nima C, Hoffman, Joshua D, Jorgenson, Eric, Kushi, Lawrence H, Meyers, Travis J, Van Den Eeden, Stephen K, Ziv, Elad, Habel, Laurel A, Hoffmann, Thomas J, Sakoda, Lori C, and Witte, John S

Subjects
Humans, Neoplasms, Genetic Predisposition to Disease, Risk Assessment, Risk Factors, Case-Control Studies, Polymorphism, Single Nucleotide, Adult, Aged, Middle Aged, European Continental Ancestry Group, Female, Male, Genome-Wide Association Study, Genetic Pleiotropy, Carcinogenesis, Polymorphism, Single Nucleotide
Abstract

Deciphering the shared genetic basis of distinct cancers has the potential to elucidate carcinogenic mechanisms and inform broadly applicable risk assessment efforts. Here, we undertake genome-wide association studies (GWAS) and comprehensive evaluations of heritability and pleiotropy across 18 cancer types in two large, population-based cohorts: the UK Biobank (408,786 European ancestry individuals; 48,961 cancer cases) and the Kaiser Permanente Genetic Epidemiology Research on Adult Health and Aging cohorts (66,526 European ancestry individuals; 16,001 cancer cases). The GWAS detect 21 genome-wide significant associations independent of previously reported results. Investigations of pleiotropy identify 12 cancer pairs exhibiting either positive or negative genetic correlations; 25 pleiotropic loci; and 100 independent pleiotropic variants, many of which are regulatory elements and/or influence cross-tissue gene expression. Our findings demonstrate widespread pleiotropy and offer further insight into the complex genetic architecture of cross-cancer susceptibility.

Published
2020

25. Functional informed genome‐wide interaction analysis of body mass index, diabetes and colorectal cancer risk

Author

Xia, Zhiyu, Su, Yu‐Ru, Petersen, Paneen, Qi, Lihong, Kim, Andre E, Figueiredo, Jane C, Lin, Yi, Nan, Hongmei, Sakoda, Lori C, Albanes, Demetrius, Berndt, Sonja I, Bézieau, Stéphane, Bien, Stephanie, Buchanan, Daniel D, Casey, Graham, Chan, Andrew T, Conti, David V, Drew, David A, Gallinger, Steven J, Gauderman, W James, Giles, Graham G, Gruber, Stephen B, Gunter, Marc J, Hoffmeister, Michael, Jenkins, Mark A, Joshi, Amit D, Le Marchand, Loic, Lewinger, Juan P, Li, Li, Lindor, Noralane M, Moreno, Victor, Murphy, Neil, Nassir, Rami, Newcomb, Polly A, Ogino, Shuji, Rennert, Gad, Song, Mingyang, Wang, Xiaoliang, Wolk, Alicja, Woods, Michael O, Brenner, Hermann, White, Emily, Slattery, Martha L, Giovannucci, Edward L, Chang‐Claude, Jenny, Pharoah, Paul DP, Hsu, Li, Campbell, Peter T, and Peters, Ulrike

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Digestive Diseases, Human Genome, Genetics, Cancer, Diabetes, Prevention, Nutrition, Colo-Rectal Cancer, Metabolic and endocrine, ATPases Associated with Diverse Cellular Activities, Aged, Body Mass Index, Colorectal Neoplasms, Databases, Genetic, Diabetes Mellitus, Type 2, Female, Gene Expression, Genotype, Hepatocyte Nuclear Factor 3-alpha, Humans, Male, Microtubule-Associated Proteins, Middle Aged, Obesity, Phenotype, Proteasome Endopeptidase Complex, Protein Tyrosine Phosphatase, Non-Receptor Type 2, Sex Factors, Sialic Acid Binding Ig-like Lectin 3, Voltage-Gated Sodium Channel beta-1 Subunit, BMI, colorectal cancer, diabetes, gene expression, gene-environmental interaction, Biochemistry and Cell Biology, Oncology and carcinogenesis
Abstract

BackgroundBody mass index (BMI) and diabetes are established risk factors for colorectal cancer (CRC), likely through perturbations in metabolic traits (e.g. insulin resistance and glucose homeostasis). Identification of interactions between variation in genes and these metabolic risk factors may identify novel biologic insights into CRC etiology.MethodsTo improve statistical power and interpretation for gene-environment interaction (G × E) testing, we tested genetic variants that regulate expression of a gene together for interaction with BMI (kg/m2 ) and diabetes on CRC risk among 26 017 cases and 20 692 controls. Each variant was weighted based on PrediXcan analysis of gene expression data from colon tissue generated in the Genotype-Tissue Expression Project for all genes with heritability ≥1%. We used a mixed-effects model to jointly measure the G × E interaction in a gene by partitioning the interactions into the predicted gene expression levels (fixed effects), and residual G × E effects (random effects). G × BMI analyses were stratified by sex as BMI-CRC associations differ by sex. We used false discovery rates to account for multiple comparisons and reported all results with FDR

Published
2020

26. Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk

Author

Sieh, Weiva, Rothstein, Joseph H, Klein, Robert J, Alexeeff, Stacey E, Sakoda, Lori C, Jorgenson, Eric, McBride, Russell B, Graff, Rebecca E, McGuire, Valerie, Achacoso, Ninah, Acton, Luana, Liang, Rhea Y, Lipson, Jafi A, Rubin, Daniel L, Yaffe, Martin J, Easton, Douglas F, Schaefer, Catherine, Risch, Neil, Whittemore, Alice S, and Habel, Laurel A

Subjects
Human Genome, Prevention, Aging, Genetics, Breast Cancer, Cancer, 2.1 Biological and endogenous factors, Aetiology, Adult, Aged, Aged, 80 and over, Breast Density, Breast Neoplasms, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Mammography, Mendelian Randomization Analysis, Middle Aged, Polymorphism, Single Nucleotide
Abstract

Mammographic density (MD) phenotypes are strongly associated with breast cancer risk and highly heritable. In this GWAS meta-analysis of 24,192 women, we identify 31 MD loci at P

Published
2020

27. Interactions between folate intake and genetic predictors of gene expression levels associated with colorectal cancer risk

Author

Haas, Cameron B., Su, Yu-Ru, Petersen, Paneen, Wang, Xiaoliang, Bien, Stephanie A., Lin, Yi, Albanes, Demetrius, Weinstein, Stephanie J., Jenkins, Mark A., Figueiredo, Jane C., Newcomb, Polly A., Casey, Graham, Le Marchand, Loic, Campbell, Peter T., Moreno, Victor, Potter, John D., Sakoda, Lori C., Slattery, Martha L., Chan, Andrew T., Li, Li, Giles, Graham G., Milne, Roger L., Gruber, Stephen B., Rennert, Gad, Woods, Michael O., Gallinger, Steven J., Berndt, Sonja, Hayes, Richard B., Huang, Wen-Yi, Wolk, Alicja, White, Emily, Nan, Hongmei, Nassir, Rami, Lindor, Noralane M., Lewinger, Juan P., Kim, Andre E., Conti, David, Gauderman, W. James, Buchanan, Daniel D., Peters, Ulrike, and Hsu, Li

Published
2022
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28. Genetic Associations and Architecture of Asthma-COPD Overlap

Author

John, Catherine, Guyatt, Anna L., Shrine, Nick, Packer, Richard, Olafsdottir, Thorunn A., Liu, Jiangyuan, Hayden, Lystra P., Chu, Su H., Koskela, Jukka T., Luan, Jian’an, Li, Xingnan, Terzikhan, Natalie, Xu, Hanfei, Bartz, Traci M., Petersen, Hans, Leng, Shuguang, Belinsky, Steven A., Cepelis, Aivaras, Hernández Cordero, Ana I., Obeidat, Ma’en, Thorleifsson, Gudmar, Meyers, Deborah A., Bleecker, Eugene R., Sakoda, Lori C., Iribarren, Carlos, Tesfaigzi, Yohannes, Gharib, Sina A., Dupuis, Josée, Brusselle, Guy, Lahousse, Lies, Ortega, Victor E., Jonsdottir, Ingileif, Sin, Don D., Bossé, Yohan, van den Berge, Maarten, Nickle, David, Quint, Jennifer K., Sayers, Ian, Hall, Ian P., Langenberg, Claudia, Ripatti, Samuli, Laitinen, Tarja, Wu, Ann C., Lasky-Su, Jessica, Bakke, Per, Gulsvik, Amund, Hersh, Craig P., Hayward, Caroline, Langhammer, Arnulf, Brumpton, Ben, Stefansson, Kari, Cho, Michael H., Wain, Louise V., and Tobin, Martin D.

Published
2022
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29. Representativeness of Patients With Lung Cancer in an Integrated Health Care Delivery System.

Author

Yang, Mike Z., Liu, Raymond, Von Behren, Julie, Lin, Katherine, Adams, Alyce S., Kushi, Lawrence H., Quesenberry Jr, Charles P., Velotta, Jeffrey B., Wong, Melisa L., Young-Wolff, Kelly C., Gomez, Scarlett L., Shariff-Marco, Salma, and Sakoda, Lori C.

Subjects
INTEGRATED health care delivery, ELECTRONIC health records, WATERSHEDS, AIR pollution, MINORITIES
Abstract

Introduction: Observational research is important for understanding the real-world benefits of advancements in lung cancer care. Integrated health care systems, such as Kaiser Permanente Northern California, have extensive electronic health records suitable for such research, but the generalizability of their populations is often questioned. Methods: Leveraging data from the California Cancer Registry, the authors compared distributions of demographic and clinical characteristics, in addition to neighborhood and environmental conditions, between patients diagnosed with lung cancer from 2015 through 2019 at Kaiser Permanente Northern California, National Cancer Institute-designated cancer centers (NCICCs), and all other non-N CICC hospitals within the same catchment area. Results: Of 20,178 included patients, 30% were from Kaiser Permanente Northern California, 8% from NCICCs, and 62% from other non-N CICC hospitals. Compared to NCICC patients, Kaiser Permanente Northern California patients were more similar to other non-N CICC patients on most characteristics. Compared to other non-N CICC patients, Kaiser Permanente Northern California patients were slightly older, more likely to be female, and less likely to be Hispanic or Asian/Pacific Islander and to reside in lower socioeconomic status (SES) neighborhoods. In contrast, NCICC patients were younger, less likely to be female or from non-A sian/Pacific Islander minoritized racial groups, and more likely to present with early-stage disease and adenocarcinoma and to reside in neighborhoods with higher SES and lower air pollution than Kaiser Permanente Northern California or other non-N CICC patients. Discussion: Patients from Kaiser Permanente Northern California, compared to NCICCs, are more broadly representative of the underlying patient population with lung cancer. Conclusion: Research using electronic health record data from integrated health care systems can contribute generalizable real-world evidence to benchmark and improve lung cancer care. [ABSTRACT FROM AUTHOR]

Published
2024
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30. Two genome-wide interaction loci modify the association of nonsteroidal anti-inflammatory drugs with colorectal cancer

Author

Drew, David A., primary, Kim, Andre E., additional, Lin, Yi, additional, Qu, Conghui, additional, Morrison, John, additional, Lewinger, Juan Pablo, additional, Kawaguchi, Eric, additional, Wang, Jun, additional, Fu, Yubo, additional, Zemlianskaia, Natalia, additional, Díez-Obrero, Virginia, additional, Bien, Stephanie A., additional, Dimou, Niki, additional, Albanes, Demetrius, additional, Baurley, James W., additional, Wu, Anna H., additional, Buchanan, Daniel D., additional, Potter, John D., additional, Prentice, Ross L., additional, Harlid, Sophia, additional, Arndt, Volker, additional, Barry, Elizabeth L., additional, Berndt, Sonja I., additional, Bouras, Emmanouil, additional, Brenner, Hermann, additional, Budiarto, Arif, additional, Burnett-Hartman, Andrea, additional, Campbell, Peter T., additional, Carreras-Torres, Robert, additional, Casey, Graham, additional, Chang-Claude, Jenny, additional, Conti, David V., additional, Devall, Matthew A.M., additional, Figueiredo, Jane C., additional, Gruber, Stephen B., additional, Gsur, Andrea, additional, Gunter, Marc J., additional, Harrison, Tabitha A., additional, Hidaka, Akihisa, additional, Hoffmeister, Michael, additional, Huyghe, Jeroen R., additional, Jenkins, Mark A., additional, Jordahl, Kristina M., additional, Kundaje, Anshul, additional, Le Marchand, Loic, additional, Li, Li, additional, Lynch, Brigid M., additional, Murphy, Neil, additional, Nassir, Rami, additional, Newcomb, Polly A., additional, Newton, Christina C., additional, Obón-Santacana, Mireia, additional, Ogino, Shuji, additional, Ose, Jennifer, additional, Pai, Rish K., additional, Palmer, Julie R., additional, Papadimitriou, Nikos, additional, Pardamean, Bens, additional, Pellatt, Andrew J., additional, Peoples, Anita R., additional, Platz, Elizabeth A., additional, Rennert, Gad, additional, Ruiz-Narvaez, Edward, additional, Sakoda, Lori C., additional, Scacheri, Peter C., additional, Schmit, Stephanie L., additional, Schoen, Robert E., additional, Stern, Mariana C., additional, Su, Yu-Ru, additional, Thomas, Duncan C., additional, Tian, Yu, additional, Tsilidis, Konstantinos K., additional, Ulrich, Cornelia M., additional, Um, Caroline Y., additional, van Duijnhoven, Fränzel J.B., additional, Van Guelpen, Bethany, additional, White, Emily, additional, Hsu, Li, additional, Moreno, Victor, additional, Peters, Ulrike, additional, Chan, Andrew T., additional, and Gauderman, W. James, additional

Published
2024
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31. Identifying Novel Susceptibility Genes for Colorectal Cancer Risk From a Transcriptome-Wide Association Study of 125,478 Subjects

Author

Guo, Xingyi, Lin, Weiqiang, Wen, Wanqing, Huyghe, Jeroen, Bien, Stephanie, Cai, Qiuyin, Harrison, Tabitha, Chen, Zhishan, Qu, Conghui, Bao, Jiandong, Long, Jirong, Yuan, Yuan, Wang, Fangqin, Bai, Mengqiu, Abecasis, Goncalo R., Albanes, Demetrius, Berndt, Sonja I., Bézieau, Stéphane, Bishop, D. Timothy, Brenner, Hermann, Buch, Stephan, Burnett-Hartman, Andrea, Campbell, Peter T., Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Chanock, Stephen J., Cho, Sang Hee, Conti, David V., Chapelle, Albert de la, Feskens, Edith J.M., Gallinger, Steven J., Giles, Graham G., Goodman, Phyllis J., Gsur, Andrea, Guinter, Mark, Gunter, Marc J., Hampe, Jochen, Hampel, Heather, Hayes, Richard B., Hoffmeister, Michael, Kampman, Ellen, Kang, Hyun Min, Keku, Temitope O., Kim, Hyeong Rok, Le Marchand, Loic, Lee, Soo Chin, Li, Christopher I., Li, Li, Lindblom, Annika, Lindor, Noralane, Milne, Roger L., Moreno, Victor, Murphy, Neil, Newcomb, Polly A., Nickerson, Deborah A., Offit, Kenneth, Pearlman, Rachel, Pharoah, Paul D.P., Platz, Elizabeth A., Potter, John D., Rennert, Gad, Sakoda, Lori C., Schafmayer, Clemens, Schmit, Stephanie L., Schoen, Robert E., Schumacher, Fredrick R., Slattery, Martha L., Su, Yu-Ru, Tangen, Catherine M., Ulrich, Cornelia M., van Duijnhoven, Franzel J.B., Van Guelpen, Bethany, Visvanathan, Kala, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Wang, Xiaoliang, White, Emily, Wolk, Alicja, Woods, Michael O., Casey, Graham, Hsu, Li, Jenkins, Mark A., Gruber, Stephen B., Peters, Ulrike, and Zheng, Wei

Published
2021
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32. Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer.

Author

Hoffmann, Thomas J, Passarelli, Michael N, Graff, Rebecca E, Emami, Nima C, Sakoda, Lori C, Jorgenson, Eric, Habel, Laurel A, Shan, Jun, Ranatunga, Dilrini K, Quesenberry, Charles P, Chao, Chun R, Ghai, Nirupa R, Aaronson, David, Presti, Joseph, Nordström, Tobias, Wang, Zhaoming, Berndt, Sonja I, Chanock, Stephen J, Mosley, Jonathan D, Klein, Robert J, Middha, Mridu, Lilja, Hans, Melander, Olle, Kvale, Mark N, Kwok, Pui-Yan, Schaefer, Catherine, Risch, Neil, Van Den Eeden, Stephen K, and Witte, John S

Subjects
Prostate, Humans, Prostatic Neoplasms, Prostate-Specific Antigen, Gene Expression, Gene Frequency, Polymorphism, Single Nucleotide, Alleles, Adult, Aged, Aged, 80 and over, Middle Aged, African Continental Ancestry Group, Asian Continental Ancestry Group, European Continental Ancestry Group, Male, Genome-Wide Association Study, Genetic Loci, Biomarkers, Tumor
Abstract

Prostate-specific antigen (PSA) levels have been used for detection and surveillance of prostate cancer (PCa). However, factors other than PCa-such as genetics-can impact PSA. Here we present findings from a genome-wide association study (GWAS) of PSA in 28,503 Kaiser Permanente whites and 17,428 men from replication cohorts. We detect 40 genome-wide significant (P

Published
2017

33. The American Cancer Society National Lung Cancer Roundtable strategic plan: Lung cancer in women.

Author

Backhus, Leah M., Chang, Ching‐Fei, Sakoda, Lori C., Chambers, Shonta R., Henderson, Louise M., Henschke, Claudia I., Hollenbeck, Gina J., Jacobson, Francine L., Martin, Linda W., Proctor, Elridge D., Schiller, Joan H., Siegfried, Jill M., Wisnivesky, Juan P., Wolf, Andrea S., Jemal, Ahmedin, Kelly, Karen, Sandler, Kim L., Watkins, Patricia N., Smith, Robert A., and Rivera, M. Patricia

Subjects
SMOKING, EVIDENCE gaps, LUNG cancer, CANCER patients, CANCER-related mortality
Abstract

Lung cancer in women is a modern epidemic and represents a global health crisis. Cigarette smoking remains the most important risk factor for lung cancer in all patients and, among women globally, rates of smoking continue to increase. Although some data exist supporting sex‐based differences across the continuum of lung cancer, there is currently a dearth of research exploring the differences in risk, biology, and treatment outcomes in women. Consequently, the American Cancer Society National Lung Cancer Roundtable recognizes the urgent need to promote awareness and future research that will close the knowledge gaps regarding lung cancer in women. To this end, the American Cancer Society National Lung Cancer Roundtable Task Group on Lung Cancer in Women convened a summit undertaking the following to: (1) summarize existing evidence and identify knowledge gaps surrounding the epidemiology, risk factors, biologic differences, and outcomes of lung cancer in women; (2) develop and prioritize research topics and questions that address research gaps and advance knowledge to improve quality of care of lung cancer in women; and (3) propose strategies for future research. Plain language summary: Lung cancer is the leading cause of cancer mortality in women, and, despite comparatively lower exposures to occupational and environmental carcinogens compared with men, disproportionately higher lung cancer rates in women who ever smoked and women who never smoked call for increased awareness and research that will close the knowledge gaps regarding lung cancer in women. The rising incidence and mortality of lung cancer among certain populations have resulted in a major health crisis worldwide. Despite comparatively less exposure to occupational and environmental carcinogens than their male counterparts, disproportionately high lung cancer rates in women who ever smoked and women who never smoked suggests other mechanisms influencing risk that warrant better understanding. [ABSTRACT FROM AUTHOR]

Published
2024
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34. Two genome-wide interaction loci modify the association of nonsteroidal anti-inflammatory drugs with colorectal cancer

Author

Drew, David A., Kim, Andre E., Lin, Yi, Qu, Conghui, Morrison, John, Lewinger, Juan Pablo, Kawaguchi, Eric, Wang, Jun, Fu, Yubo, Zemlianskaia, Natalia, Díez-Obrero, Virginia, Bien, Stephanie A., Dimou, Niki, Albanes, Demetrius, Baurley, James W., Wu, Anna H., Buchanan, Daniel D., Potter, John D., Prentice, Ross L., Harlid, Sophia, Arndt, Volker, Barry, Elizabeth L., Berndt, Sonja I., Bouras, Emmanouil, Brenner, Hermann, Budiarto, Arif, Burnett-Hartman, Andrea, Campbell, Peter T., Carreras-Torres, Robert, Casey, Graham, Chang-Claude, Jenny, Conti, David V., Devall, Matthew A M, Figueiredo, Jane C., Gruber, Stephen B., Gsur, Andrea, Gunter, Marc J., Harrison, Tabitha A., Hidaka, Akihisa, Hoffmeister, Michael, Huyghe, Jeroen R., Jenkins, Mark A., Jordahl, Kristina M., Kundaje, Anshul, Le Marchand, Loic, Li, Li, Lynch, Brigid M., Murphy, Neil, Nassir, Rami, Newcomb, Polly A., Newton, Christina C., Obón-Santacana, Mireia, Ogino, Shuji, Ose, Jennifer, Pai, Rish K., Palmer, Julie R., Papadimitriou, Nikos, Pardamean, Bens, Pellatt, Andrew J., Peoples, Anita R., Platz, Elizabeth A., Rennert, Gad, Ruiz-Narvaez, Edward, Sakoda, Lori C., Scacheri, Peter C., Schmit, Stephanie L., Schoen, Robert E., Stern, Mariana C., Su, Yu-Ru, Thomas, Duncan C., Tian, Yu, Tsilidis, Konstantinos K., Ulrich, Cornelia M., Um, Caroline Y., van Duijnhoven, Fränzel J B, van Guelpen, Bethany, White, Emily, Hsu, Li, Moreno, Victor, Peters, Ulrike, Chan, Andrew T., Gauderman, W James, Drew, David A., Kim, Andre E., Lin, Yi, Qu, Conghui, Morrison, John, Lewinger, Juan Pablo, Kawaguchi, Eric, Wang, Jun, Fu, Yubo, Zemlianskaia, Natalia, Díez-Obrero, Virginia, Bien, Stephanie A., Dimou, Niki, Albanes, Demetrius, Baurley, James W., Wu, Anna H., Buchanan, Daniel D., Potter, John D., Prentice, Ross L., Harlid, Sophia, Arndt, Volker, Barry, Elizabeth L., Berndt, Sonja I., Bouras, Emmanouil, Brenner, Hermann, Budiarto, Arif, Burnett-Hartman, Andrea, Campbell, Peter T., Carreras-Torres, Robert, Casey, Graham, Chang-Claude, Jenny, Conti, David V., Devall, Matthew A M, Figueiredo, Jane C., Gruber, Stephen B., Gsur, Andrea, Gunter, Marc J., Harrison, Tabitha A., Hidaka, Akihisa, Hoffmeister, Michael, Huyghe, Jeroen R., Jenkins, Mark A., Jordahl, Kristina M., Kundaje, Anshul, Le Marchand, Loic, Li, Li, Lynch, Brigid M., Murphy, Neil, Nassir, Rami, Newcomb, Polly A., Newton, Christina C., Obón-Santacana, Mireia, Ogino, Shuji, Ose, Jennifer, Pai, Rish K., Palmer, Julie R., Papadimitriou, Nikos, Pardamean, Bens, Pellatt, Andrew J., Peoples, Anita R., Platz, Elizabeth A., Rennert, Gad, Ruiz-Narvaez, Edward, Sakoda, Lori C., Scacheri, Peter C., Schmit, Stephanie L., Schoen, Robert E., Stern, Mariana C., Su, Yu-Ru, Thomas, Duncan C., Tian, Yu, Tsilidis, Konstantinos K., Ulrich, Cornelia M., Um, Caroline Y., van Duijnhoven, Fränzel J B, van Guelpen, Bethany, White, Emily, Hsu, Li, Moreno, Victor, Peters, Ulrike, Chan, Andrew T., and Gauderman, W James

Abstract

Regular, long-term aspirin use may act synergistically with genetic variants, particularly those in mechanistically relevant pathways, to confer a protective effect on colorectal cancer (CRC) risk. We leveraged pooled data from 52 clinical trial, cohort, and case-control studies that included 30,806 CRC cases and 41,861 controls of European ancestry to conduct a genome-wide interaction scan between regular aspirin/nonsteroidal anti-inflammatory drug (NSAID) use and imputed genetic variants. After adjusting for multiple comparisons, we identified statistically significant interactions between regular aspirin/NSAID use and variants in 6q24.1 (top hit rs72833769), which has evidence of influencing expression of TBC1D7 (a subunit of the TSC1-TSC2 complex, a key regulator of MTOR activity), and variants in 5p13.1 (top hit rs350047), which is associated with expression of PTGER4 (codes a cell surface receptor directly involved in the mode of action of aspirin). Genetic variants with functional impact may modulate the chemopreventive effect of regular aspirin use, and our study identifies putative previously unidentified targets for additional mechanistic interrogation.

Published
2024
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35. Fine-mapping analysis including over 254 000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes

Author

Chen, Zhishan, Guo, Xingyi, Tao, Ran, Huyghe, Jeroen R., Law, Philip J., Fernandez-Rozadilla, Ceres, Ping, Jie, Jia, Guochong, Long, Jirong, Li, Chao, Shen, Quanhu, Xie, Yuhan, Timofeeva, Maria N., Thomas, Minta, Schmit, Stephanie L., Díez-Obrero, Virginia, Devall, Matthew, Moratalla-Navarro, Ferran, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah E. W., Svinti, Victoria, Donnelly, Kevin, Farrington, Susan M., Blackmur, James, Vaughan-Shaw, Peter G., Shu, Xiao-Ou, Lu, Yingchang, Broderick, Peter, Studd, James, Harrison, Tabitha A., Conti, David V., Schumacher, Fredrick R., Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martín-Sánchez, Vicente, Oh, Jae Hwan, Kim, Jeongseon, Jee, Sun Ha, Jung, Keum Ji, Kweon, Sun-Seog, Shin, Min-Ho, Shin, Aesun, Ahn, Yoon-Ok, Kim, Dong-Hyun, Oze, Isao, Wen, Wanqing, Matsuo, Keitaro, Matsuda, Koichi, Tanikawa, Chizu, Ren, Zefang, Gao, Yu-Tang, Jia, Wei-Hua, Hopper, John L., Jenkins, Mark A., Win, Aung Ko, Pai, Rish K., Figueiredo, Jane C., Haile, Robert W., Gallinger, Steven, Woods, Michael O., Newcomb, Polly A., Duggan, David, Cheadle, Jeremy P., Kaplan, Richard, Kerr, Rachel, Kerr, David, Kirac, Iva, Böhm, Jan, Mecklin, Jukka-Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri A., Rissanen, Harri, Pukkala, Eero, Eriksson, Johan G., Cajuso, Tatiana, Hänninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie J., Ruiz-Narvaez, Edward, Palmer, Julie R., Buchanan, Daniel D., Platz, Elizabeth A., Visvanathan, Kala, Ulrich, Cornelia M., Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter T., Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Slattery, Martha L., Potter, John D., Tsilidis, Kostas K., Schulze, Matthias B., Gunter, Marc J., Murphy, Neil, Castells, Antoni, Castellví-Bel, Sergi, Moreira, Leticia, Arndt, Volker, Shcherbina, Anna, Bishop, D. Timothy, Giles, Graham G., Southey, Melissa C., Idos, Gregory E., McDonnell, Kevin J., Abu-Ful, Zomoroda, Greenson, Joel K., Shulman, Katerina, Lejbkowicz, Flavio, Offit, Kenneth, Su, Yu-Ru, Steinfelder, Robert, Keku, Temitope O., van Guelpen, Bethany, Hudson, Thomas J., Hampel, Heather, Pearlman, Rachel, Berndt, Sonja I., Hayes, Richard B., Martinez, Marie Elena, Thomas, Sushma S., Pharoah, Paul D. P., Larsson, Susanna C., Yen, Yun, Lenz, Heinz-Josef, White, Emily, Li, Li, Doheny, Kimberly F., Pugh, Elizabeth, Shelford, Tameka, Chan, Andrew T., Cruz-Correa, Marcia, Lindblom, Annika, Hunter, David J., Joshi, Amit D., Schafmayer, Clemens, Scacheri, Peter C., Kundaje, Anshul, Schoen, Robert E., Hampe, Jochen, Stadler, Zsofia K., Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Edlund, Christopher K., Gauderman, W. James, Shibata, David, Toland, Amanda, Markowitz, Sanford, Kim, Andre, Chanock, Stephen J., van Duijnhoven, Franzel, Feskens, Edith J. M., Sakoda, Lori C., Gago-Dominguez, Manuela, Wolk, Alicja, Pardini, Barbara, FitzGerald, Liesel M., Lee, Soo Chin, Ogino, Shuji, Bien, Stephanie A., Kooperberg, Charles, Li, Christopher I., Lin, Yi, Prentice, Ross, Qu, Conghui, Bézieau, Stéphane, Yamaji, Taiki, Sawada, Norie, Iwasaki, Motoki, Le Marchand, Loic, Wu, Anna H., Qu, Chenxu, McNeil, Caroline E., Coetzee, Gerhard, Hayward, Caroline, Deary, Ian J., Harris, Sarah E., Theodoratou, Evropi, Reid, Stuart, Walker, Marion, Ooi, Li Yin, Lau, Ken S., Zhao, Hongyu, Hsu, Li, Cai, Qiuyin, Dunlop, Malcolm G., Gruber, Stephen B., Houlston, Richard S., Moreno, Victor, Casey, Graham, Peters, Ulrike, Tomlinson, Ian, Zheng, Wei, Chen, Zhishan, Guo, Xingyi, Tao, Ran, Huyghe, Jeroen R., Law, Philip J., Fernandez-Rozadilla, Ceres, Ping, Jie, Jia, Guochong, Long, Jirong, Li, Chao, Shen, Quanhu, Xie, Yuhan, Timofeeva, Maria N., Thomas, Minta, Schmit, Stephanie L., Díez-Obrero, Virginia, Devall, Matthew, Moratalla-Navarro, Ferran, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah E. W., Svinti, Victoria, Donnelly, Kevin, Farrington, Susan M., Blackmur, James, Vaughan-Shaw, Peter G., Shu, Xiao-Ou, Lu, Yingchang, Broderick, Peter, Studd, James, Harrison, Tabitha A., Conti, David V., Schumacher, Fredrick R., Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martín-Sánchez, Vicente, Oh, Jae Hwan, Kim, Jeongseon, Jee, Sun Ha, Jung, Keum Ji, Kweon, Sun-Seog, Shin, Min-Ho, Shin, Aesun, Ahn, Yoon-Ok, Kim, Dong-Hyun, Oze, Isao, Wen, Wanqing, Matsuo, Keitaro, Matsuda, Koichi, Tanikawa, Chizu, Ren, Zefang, Gao, Yu-Tang, Jia, Wei-Hua, Hopper, John L., Jenkins, Mark A., Win, Aung Ko, Pai, Rish K., Figueiredo, Jane C., Haile, Robert W., Gallinger, Steven, Woods, Michael O., Newcomb, Polly A., Duggan, David, Cheadle, Jeremy P., Kaplan, Richard, Kerr, Rachel, Kerr, David, Kirac, Iva, Böhm, Jan, Mecklin, Jukka-Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri A., Rissanen, Harri, Pukkala, Eero, Eriksson, Johan G., Cajuso, Tatiana, Hänninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie J., Ruiz-Narvaez, Edward, Palmer, Julie R., Buchanan, Daniel D., Platz, Elizabeth A., Visvanathan, Kala, Ulrich, Cornelia M., Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter T., Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Slattery, Martha L., Potter, John D., Tsilidis, Kostas K., Schulze, Matthias B., Gunter, Marc J., Murphy, Neil, Castells, Antoni, Castellví-Bel, Sergi, Moreira, Leticia, Arndt, Volker, Shcherbina, Anna, Bishop, D. Timothy, Giles, Graham G., Southey, Melissa C., Idos, Gregory E., McDonnell, Kevin J., Abu-Ful, Zomoroda, Greenson, Joel K., Shulman, Katerina, Lejbkowicz, Flavio, Offit, Kenneth, Su, Yu-Ru, Steinfelder, Robert, Keku, Temitope O., van Guelpen, Bethany, Hudson, Thomas J., Hampel, Heather, Pearlman, Rachel, Berndt, Sonja I., Hayes, Richard B., Martinez, Marie Elena, Thomas, Sushma S., Pharoah, Paul D. P., Larsson, Susanna C., Yen, Yun, Lenz, Heinz-Josef, White, Emily, Li, Li, Doheny, Kimberly F., Pugh, Elizabeth, Shelford, Tameka, Chan, Andrew T., Cruz-Correa, Marcia, Lindblom, Annika, Hunter, David J., Joshi, Amit D., Schafmayer, Clemens, Scacheri, Peter C., Kundaje, Anshul, Schoen, Robert E., Hampe, Jochen, Stadler, Zsofia K., Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Edlund, Christopher K., Gauderman, W. James, Shibata, David, Toland, Amanda, Markowitz, Sanford, Kim, Andre, Chanock, Stephen J., van Duijnhoven, Franzel, Feskens, Edith J. M., Sakoda, Lori C., Gago-Dominguez, Manuela, Wolk, Alicja, Pardini, Barbara, FitzGerald, Liesel M., Lee, Soo Chin, Ogino, Shuji, Bien, Stephanie A., Kooperberg, Charles, Li, Christopher I., Lin, Yi, Prentice, Ross, Qu, Conghui, Bézieau, Stéphane, Yamaji, Taiki, Sawada, Norie, Iwasaki, Motoki, Le Marchand, Loic, Wu, Anna H., Qu, Chenxu, McNeil, Caroline E., Coetzee, Gerhard, Hayward, Caroline, Deary, Ian J., Harris, Sarah E., Theodoratou, Evropi, Reid, Stuart, Walker, Marion, Ooi, Li Yin, Lau, Ken S., Zhao, Hongyu, Hsu, Li, Cai, Qiuyin, Dunlop, Malcolm G., Gruber, Stephen B., Houlston, Richard S., Moreno, Victor, Casey, Graham, Peters, Ulrike, Tomlinson, Ian, and Zheng, Wei

Abstract

Genome-wide association studies (GWAS) have identified more than 200 common genetic variants independently associated with colorectal cancer (CRC) risk, but the causal variants and target genes are mostly unknown. We sought to fine-map all known CRC risk loci using GWAS data from 100,204 cases and 154,587 controls of East Asian and European ancestry. Our stepwise conditional analyses revealed 238 independent association signals of CRC risk, each with a set of credible causal variants (CCVs), of which 28 signals had a single CCV. Our cis-eQTL/mQTL and colocalization analyses using colorectal tissue-specific transcriptome and methylome data separately from 1299 and 321 individuals, along with functional genomic investigation, uncovered 136 putative CRC susceptibility genes, including 56 genes not previously reported. Analyses of single-cell RNA-seq data from colorectal tissues revealed 17 putative CRC susceptibility genes with distinct expression patterns in specific cell types. Analyses of whole exome sequencing data provided additional support for several target genes identified in this study as CRC susceptibility genes. Enrichment analyses of the 136 genes uncover pathways not previously linked to CRC risk. Our study substantially expanded association signals for CRC and provided additional insight into the biological mechanisms underlying CRC development.

Published
2024
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36. A Large Multiethnic Genome-Wide Association Study of Prostate Cancer Identifies Novel Risk Variants and Substantial Ethnic Differences

Author

Hoffmann, Thomas J, Van Den Eeden, Stephen K, Sakoda, Lori C, Jorgenson, Eric, Habel, Laurel A, Graff, Rebecca E, Passarelli, Michael N, Cario, Clinton L, Emami, Nima C, Chao, Chun R, Ghai, Nirupa R, Shan, Jun, Ranatunga, Dilrini K, Quesenberry, Charles P, Aaronson, David, Presti, Joseph, Wang, Zhaoming, Berndt, Sonja I, Chanock, Stephen J, McDonnell, Shannon K, French, Amy J, Schaid, Daniel J, Thibodeau, Stephen N, Li, Qiyuan, Freedman, Matthew L, Penney, Kathryn L, Mucci, Lorelei A, Haiman, Christopher A, Henderson, Brian E, Seminara, Daniela, Kvale, Mark N, Kwok, Pui-Yan, Schaefer, Catherine, Risch, Neil, and Witte, John S

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Cancer, Minority Health, Urologic Diseases, Prevention, Prostate Cancer, Aging, Clinical Research, Human Genome, Health Disparities, Adult, Aged, Alleles, Biomarkers, Tumor, Case-Control Studies, Ethnicity, Genetic Predisposition to Disease, Genome-Wide Association Study, Genomics, Humans, INDEL Mutation, Male, Middle Aged, Polymorphism, Single Nucleotide, Prostatic Neoplasms, Quantitative Trait Loci, Reproducibility of Results, Risk, Biochemistry and cell biology, Oncology and carcinogenesis
Abstract

UnlabelledA genome-wide association study (GWAS) of prostate cancer in Kaiser Permanente health plan members (7,783 cases, 38,595 controls; 80.3% non-Hispanic white, 4.9% African-American, 7.0% East Asian, and 7.8% Latino) revealed a new independent risk indel rs4646284 at the previously identified locus 6q25.3 that replicated in PEGASUS (N = 7,539) and the Multiethnic Cohort (N = 4,679) with an overall P = 1.0 × 10(-19) (OR, 1.18). Across the 6q25.3 locus, rs4646284 exhibited the strongest association with expression of SLC22A1 (P = 1.3 × 10(-23)) and SLC22A3 (P = 3.2 × 10(-52)). At the known 19q13.33 locus, rs2659124 (P = 1.3 × 10(-13); OR, 1.18) nominally replicated in PEGASUS. A risk score of 105 known risk SNPs was strongly associated with prostate cancer (P < 1.0 × 10(-8)). Comparing the highest to lowest risk score deciles, the OR was 6.22 for non-Hispanic whites, 5.82 for Latinos, 3.77 for African-Americans, and 3.38 for East Asians. In non-Hispanic whites, the 105 risk SNPs explained approximately 7.6% of disease heritability. The entire GWAS array explained approximately 33.4% of heritability, with a 4.3-fold enrichment within DNaseI hypersensitivity sites (P = 0.004).SignificanceTaken together, our findings of independent risk variants, ethnic variation in existing SNP replication, and remaining unexplained heritability have important implications for further clarifying the genetic risk of prostate cancer. Our findings also suggest that there may be much promise in evaluating understudied variation, such as indels and ethnically diverse populations.

Published
2015

37. Genotyping Informatics and Quality Control for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.

Author

Kvale, Mark N, Hesselson, Stephanie, Hoffmann, Thomas J, Cao, Yang, Chan, David, Connell, Sheryl, Croen, Lisa A, Dispensa, Brad P, Eshragh, Jasmin, Finn, Andrea, Gollub, Jeremy, Iribarren, Carlos, Jorgenson, Eric, Kushi, Lawrence H, Lao, Richard, Lu, Yontao, Ludwig, Dana, Mathauda, Gurpreet K, McGuire, William B, Mei, Gangwu, Miles, Sunita, Mittman, Michael, Patil, Mohini, Quesenberry, Charles P, Ranatunga, Dilrini, Rowell, Sarah, Sadler, Marianne, Sakoda, Lori C, Shapero, Michael, Shen, Ling, Shenoy, Tanu, Smethurst, David, Somkin, Carol P, Van Den Eeden, Stephen K, Walter, Lawrence, Wan, Eunice, Webster, Teresa, Whitmer, Rachel A, Wong, Simon, Zau, Chia, Zhan, Yiping, Schaefer, Catherine, Kwok, Pui-Yan, and Risch, Neil

Subjects
Humans, Oligonucleotide Array Sequence Analysis, Cohort Studies, Computational Biology, Aging, Polymorphism, Single Nucleotide, Quality Control, Adult, Health, Female, Male, Molecular Epidemiology, Genotyping Techniques, Affymetrix Axiom, GERA cohort, genome-wide genotyping, quality control, saliva DNA, Genetics, Human Genome, Generic health relevance, Developmental Biology
Abstract

The Kaiser Permanente (KP) Research Program on Genes, Environment and Health (RPGEH), in collaboration with the University of California-San Francisco, undertook genome-wide genotyping of >100,000 subjects that constitute the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. The project, which generated >70 billion genotypes, represents the first large-scale use of the Affymetrix Axiom Genotyping Solution. Because genotyping took place over a short 14-month period, creating a near-real-time analysis pipeline for experimental assay quality control and final optimized analyses was critical. Because of the multi-ethnic nature of the cohort, four different ethnic-specific arrays were employed to enhance genome-wide coverage. All assays were performed on DNA extracted from saliva samples. To improve sample call rates and significantly increase genotype concordance, we partitioned the cohort into disjoint packages of plates with similar assay contexts. Using strict QC criteria, the overall genotyping success rate was 103,067 of 109,837 samples assayed (93.8%), with a range of 92.1-95.4% for the four different arrays. Similarly, the SNP genotyping success rate ranged from 98.1 to 99.4% across the four arrays, the variation depending mostly on how many SNPs were included as single copy vs. double copy on a particular array. The high quality and large scale of genotype data created on this cohort, in conjunction with comprehensive longitudinal data from the KP electronic health records of participants, will enable a broad range of highly powered genome-wide association studies on a diversity of traits and conditions.

Published
2015

38. Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.

Author

Banda, Yambazi, Kvale, Mark N, Hoffmann, Thomas J, Hesselson, Stephanie E, Ranatunga, Dilrini, Tang, Hua, Sabatti, Chiara, Croen, Lisa A, Dispensa, Brad P, Henderson, Mary, Iribarren, Carlos, Jorgenson, Eric, Kushi, Lawrence H, Ludwig, Dana, Olberg, Diane, Quesenberry, Charles P, Rowell, Sarah, Sadler, Marianne, Sakoda, Lori C, Sciortino, Stanley, Shen, Ling, Smethurst, David, Somkin, Carol P, Van Den Eeden, Stephen K, Walter, Lawrence, Whitmer, Rachel A, Kwok, Pui-Yan, Schaefer, Catherine, and Risch, Neil

Subjects
Humans, Cohort Studies, Pedigree, Genomics, Aging, Principal Component Analysis, Adult, Middle Aged, Health, Female, Male, Molecular Epidemiology, Ethnicity, Racial Groups, RPGEH GERA, admixture, population structure, principal components, race/ethnicity, Clinical Research, Genetics, Developmental Biology
Abstract

Using genome-wide genotypes, we characterized the genetic structure of 103,006 participants in the Kaiser Permanente Northern California multi-ethnic Genetic Epidemiology Research on Adult Health and Aging Cohort and analyzed the relationship to self-reported race/ethnicity. Participants endorsed any of 23 race/ethnicity/nationality categories, which were collapsed into seven major race/ethnicity groups. By self-report the cohort is 80.8% white and 19.2% minority; 93.8% endorsed a single race/ethnicity group, while 6.2% endorsed two or more. Principal component (PC) and admixture analyses were generally consistent with prior studies. Approximately 17% of subjects had genetic ancestry from more than one continent, and 12% were genetically admixed, considering only nonadjacent geographical origins. Self-reported whites were spread on a continuum along the first two PCs, indicating extensive mixing among European nationalities. Self-identified East Asian nationalities correlated with genetic clustering, consistent with extensive endogamy. Individuals of mixed East Asian-European genetic ancestry were easily identified; we also observed a modest amount of European genetic ancestry in individuals self-identified as Filipinos. Self-reported African Americans and Latinos showed extensive European and African genetic ancestry, and Native American genetic ancestry for the latter. Among 3741 genetically identified parent-child pairs, 93% were concordant for self-reported race/ethnicity; among 2018 genetically identified full-sib pairs, 96% were concordant; the lower rate for parent-child pairs was largely due to intermarriage. The parent-child pairs revealed a trend toward increasing exogamy over time; the presence in the cohort of individuals endorsing multiple race/ethnicity categories creates interesting challenges and future opportunities for genetic epidemiologic studies.

Published
2015

39. Automated Assay of Telomere Length Measurement and Informatics for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.

Author

Lapham, Kyle, Kvale, Mark N, Lin, Jue, Connell, Sheryl, Croen, Lisa A, Dispensa, Brad P, Fang, Lynn, Hesselson, Stephanie, Hoffmann, Thomas J, Iribarren, Carlos, Jorgenson, Eric, Kushi, Lawrence H, Ludwig, Dana, Matsuguchi, Tetsuya, McGuire, William B, Miles, Sunita, Quesenberry, Charles P, Rowell, Sarah, Sadler, Marianne, Sakoda, Lori C, Smethurst, David, Somkin, Carol P, Van Den Eeden, Stephen K, Walter, Lawrence, Whitmer, Rachel A, Kwok, Pui-Yan, Risch, Neil, Schaefer, Catherine, and Blackburn, Elizabeth H

Subjects
Leukocytes, Mononuclear, Telomere, Humans, Cohort Studies, Computational Biology, Aging, Sex Characteristics, Genotype, Automation, Adult, Health, Female, Male, Molecular Epidemiology, GERA cohort, quantitative PCR, relative telomere length, robotic assay, saliva DNA, Genetics, Clinical Research, Good Health and Well Being, Developmental Biology
Abstract

The Kaiser Permanente Research Program on Genes, Environment, and Health (RPGEH) Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort includes DNA specimens extracted from saliva samples of 110,266 individuals. Because of its relationship to aging, telomere length measurement was considered an important biomarker to develop on these subjects. To assay relative telomere length (TL) on this large cohort over a short time period, we created a novel high throughput robotic system for TL analysis and informatics. Samples were run in triplicate, along with control samples, in a randomized design. As part of quality control, we determined the within-sample variability and employed thresholds for the elimination of outlying measurements. Of 106,902 samples assayed, 105,539 (98.7%) passed all quality control (QC) measures. As expected, TL in general showed a decline with age and a sex difference. While telomeres showed a negative correlation with age up to 75 years, in those older than 75 years, age positively correlated with longer telomeres, indicative of an association of longer telomeres with more years of survival in those older than 75. Furthermore, while females in general had longer telomeres than males, this difference was significant only for those older than age 50. An additional novel finding was that the variance of TL between individuals increased with age. This study establishes reliable assay and analysis methodologies for measurement of TL in large, population-based human studies. The GERA cohort represents the largest currently available such resource, linked to comprehensive electronic health and genotype data for analysis.

Published
2015

40. Differences in the Genetic Susceptibility to Age-Related Macular Degeneration Clinical Subtypes.

Author

Shen, Ling, Hoffmann, Thomas J, Melles, Ronald B, Sakoda, Lori C, Kvale, Mark N, Banda, Yambazi, Schaefer, Catherine, Risch, Neil, and Jorgenson, Eric

Subjects
Humans, Macular Degeneration, Genetic Predisposition to Disease, Prevalence, Risk Factors, Retrospective Studies, Genotype, Phenotype, Polymorphism, Genetic, Alleles, Aged, California, Female, Male, Aging, Genetic Testing, Clinical Research, Eye Disease and Disorders of Vision, Genetics, Neurodegenerative, Prevention, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, age-related macular degeneration, prevalence, heritability, ApoE, Biological Sciences, Medical and Health Sciences, Ophthalmology & Optometry
Abstract

PurposeWe compared across age-related macular degeneration (AMD) subtypes the effect of AMD risk variants, their predictive power, and heritability.MethodsThe prevalence of AMD was estimated among active non-Hispanic white Kaiser Permanente Northern California members who were at least 65 years of age as of June 2013. The genetic analysis included 5,170 overall AMD cases ascertained from electronic health records (EHR), including 1,239 choroidal neovascularization (CNV) cases and 1,060 nonexudative AMD cases without CNV, and 23,130 controls of non-Hispanic white ancestry from the Kaiser Permanente Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. Imputation was based on the 1000 Genomes Project reference panel.ResultsThe narrow-sense heritability due to common autosomal single nucleotide polymorphisms (SNPs) was 0.37 for overall AMD, 0.19 for AMD unspecified, 0.20 for nonexudative AMD, and 0.60 for CNV. For the 19 previously reported AMD risk loci, the area under the receiver operating characteristic (ROC) curve was 0.675 for overall AMD, 0.640 for AMD unspecified, 0.678 for nonexudative AMD, and 0.766 for CNV. The individual effects on the risk of AMD for 18 of the 19 SNPs were in a consistent direction with those previously reported, including a protective effect of the APOE ε4 allele. Conversely, the risk of AMD was significantly increased in carriers of the ε2 allele.ConclusionsThese findings provide an independent confirmation of many of the previously identified AMD risk loci, and support a potentially greater role of genetic factors in the development of CNV. The replication of established associations validates the use of EHR in genetic studies of ophthalmologic traits.

Published
2015

41. 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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42. Adiposity, metabolites, and colorectal cancer risk: Mendelian randomization study

Author

Bull, Caroline J., Bell, Joshua A., Murphy, Neil, Sanderson, Eleanor, Davey Smith, George, Timpson, Nicholas J., Banbury, Barbara L., Albanes, Demetrius, Berndt, Sonja I., Bézieau, Stéphane, Bishop, D. Timothy, Brenner, Hermann, Buchanan, Daniel D., Burnett-Hartman, Andrea, Casey, Graham, Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Cross, Amanda J., de la Chapelle, Albert, Figueiredo, Jane C., Gallinger, Steven J., Gapstur, Susan M., Giles, Graham G., Gruber, Stephen B., Gsur, Andrea, Hampe, Jochen, Hampel, Heather, Harrison, Tabitha A., Hoffmeister, Michael, Hsu, Li, Huang, Wen-Yi, Huyghe, Jeroen R., Jenkins, Mark A., Joshu, Corinne E., Keku, Temitope O., Kühn, Tilman, Kweon, Sun-Seog, Le Marchand, Loic, Li, Christopher I., Li, Li, Lindblom, Annika, Martín, Vicente, May, Anne M., Milne, Roger L., Moreno, Victor, Newcomb, Polly A., Offit, Kenneth, Ogino, Shuji, Phipps, Amanda I., Platz, Elizabeth A., Potter, John D., Qu, Conghui, Quirós, J. Ramón, Rennert, Gad, Riboli, Elio, Sakoda, Lori C., Schafmayer, Clemens, Schoen, Robert E., Slattery, Martha L., Tangen, Catherine M., Tsilidis, Kostas K., Ulrich, Cornelia M., van Duijnhoven, Fränzel J. B., van Guelpen, Bethany, Visvanathan, Kala, Vodicka, Pavel, Vodickova, Ludmila, Wang, Hansong, White, Emily, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Campbell, Peter T., Zheng, Wei, Peters, Ulrike, Vincent, Emma E., and Gunter, Marc J.

Published
2020
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43. Data from A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk

Author

Aglago, Elom K., primary, Kim, Andre, primary, Lin, Yi, primary, Qu, Conghui, primary, Evangelou, Marina, primary, Ren, Yu, primary, Morrison, John, primary, Albanes, Demetrius, primary, Arndt, Volker, primary, Barry, Elizabeth L., primary, Baurley, James W., primary, Berndt, Sonja I., primary, Bien, Stephanie A., primary, Bishop, D. Timothy, primary, Bouras, Emmanouil, primary, Brenner, Hermann, primary, Buchanan, Daniel D., primary, Budiarto, Arif, primary, Carreras-Torres, Robert, primary, Casey, Graham, primary, Cenggoro, Tjeng Wawan, primary, Chan, Andrew T., primary, Chang-Claude, Jenny, primary, Chen, Xuechen, primary, Conti, David V., primary, Devall, Matthew, primary, Diez-Obrero, Virginia, primary, Dimou, Niki, primary, Drew, David, primary, Figueiredo, Jane C., primary, Gallinger, Steven, primary, Giles, Graham G., primary, Gruber, Stephen B., primary, Gsur, Andrea, primary, Gunter, Marc J., primary, Hampel, Heather, primary, Harlid, Sophia, primary, Hidaka, Akihisa, primary, Harrison, Tabitha A., primary, Hoffmeister, Michael, primary, Huyghe, Jeroen R., primary, Jenkins, Mark A., primary, Jordahl, Kristina, primary, Joshi, Amit D., primary, Kawaguchi, Eric S., primary, Keku, Temitope O., primary, Kundaje, Anshul, primary, Larsson, Susanna C., primary, Marchand, Loic Le, primary, Lewinger, Juan Pablo, primary, Li, Li, primary, Lynch, Brigid M., primary, Mahesworo, Bharuno, primary, Mandic, Marko, primary, Obón-Santacana, Mireia, primary, Moreno, Victor, primary, Murphy, Neil, primary, Nan, Hongmei, primary, Nassir, Rami, primary, Newcomb, Polly A., primary, Ogino, Shuji, primary, Ose, Jennifer, primary, Pai, Rish K., primary, Palmer, Julie R., primary, Papadimitriou, Nikos, primary, Pardamean, Bens, primary, Peoples, Anita R., primary, Platz, Elizabeth A., primary, Potter, John D., primary, Prentice, Ross L., primary, Rennert, Gad, primary, Ruiz-Narvaez, Edward, primary, Sakoda, Lori C., primary, Scacheri, Peter C., primary, Schmit, Stephanie L., primary, Schoen, Robert E., primary, Shcherbina, Anna, primary, Slattery, Martha L., primary, Stern, Mariana C., primary, Su, Yu-Ru, primary, Tangen, Catherine M., primary, Thibodeau, Stephen N., primary, Thomas, Duncan C., primary, Tian, Yu, primary, Ulrich, Cornelia M., primary, van Duijnhoven, Franzel JB, primary, Van Guelpen, Bethany, primary, Visvanathan, Kala, primary, Vodicka, Pavel, primary, Wang, Jun, primary, White, Emily, primary, Wolk, Alicja, primary, Woods, Michael O., primary, Wu, Anna H., primary, Zemlianskaia, Natalia, primary, Hsu, Li, primary, Gauderman, W. James, primary, Peters, Ulrike, primary, Tsilidis, Konstantinos K., primary, and Campbell, Peter T., primary

Published
2023
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44. Supplementary Data from A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk

Author

Aglago, Elom K., primary, Kim, Andre, primary, Lin, Yi, primary, Qu, Conghui, primary, Evangelou, Marina, primary, Ren, Yu, primary, Morrison, John, primary, Albanes, Demetrius, primary, Arndt, Volker, primary, Barry, Elizabeth L., primary, Baurley, James W., primary, Berndt, Sonja I., primary, Bien, Stephanie A., primary, Bishop, D. Timothy, primary, Bouras, Emmanouil, primary, Brenner, Hermann, primary, Buchanan, Daniel D., primary, Budiarto, Arif, primary, Carreras-Torres, Robert, primary, Casey, Graham, primary, Cenggoro, Tjeng Wawan, primary, Chan, Andrew T., primary, Chang-Claude, Jenny, primary, Chen, Xuechen, primary, Conti, David V., primary, Devall, Matthew, primary, Diez-Obrero, Virginia, primary, Dimou, Niki, primary, Drew, David, primary, Figueiredo, Jane C., primary, Gallinger, Steven, primary, Giles, Graham G., primary, Gruber, Stephen B., primary, Gsur, Andrea, primary, Gunter, Marc J., primary, Hampel, Heather, primary, Harlid, Sophia, primary, Hidaka, Akihisa, primary, Harrison, Tabitha A., primary, Hoffmeister, Michael, primary, Huyghe, Jeroen R., primary, Jenkins, Mark A., primary, Jordahl, Kristina, primary, Joshi, Amit D., primary, Kawaguchi, Eric S., primary, Keku, Temitope O., primary, Kundaje, Anshul, primary, Larsson, Susanna C., primary, Marchand, Loic Le, primary, Lewinger, Juan Pablo, primary, Li, Li, primary, Lynch, Brigid M., primary, Mahesworo, Bharuno, primary, Mandic, Marko, primary, Obón-Santacana, Mireia, primary, Moreno, Victor, primary, Murphy, Neil, primary, Nan, Hongmei, primary, Nassir, Rami, primary, Newcomb, Polly A., primary, Ogino, Shuji, primary, Ose, Jennifer, primary, Pai, Rish K., primary, Palmer, Julie R., primary, Papadimitriou, Nikos, primary, Pardamean, Bens, primary, Peoples, Anita R., primary, Platz, Elizabeth A., primary, Potter, John D., primary, Prentice, Ross L., primary, Rennert, Gad, primary, Ruiz-Narvaez, Edward, primary, Sakoda, Lori C., primary, Scacheri, Peter C., primary, Schmit, Stephanie L., primary, Schoen, Robert E., primary, Shcherbina, Anna, primary, Slattery, Martha L., primary, Stern, Mariana C., primary, Su, Yu-Ru, primary, Tangen, Catherine M., primary, Thibodeau, Stephen N., primary, Thomas, Duncan C., primary, Tian, Yu, primary, Ulrich, Cornelia M., primary, van Duijnhoven, Franzel JB, primary, Van Guelpen, Bethany, primary, Visvanathan, Kala, primary, Vodicka, Pavel, primary, Wang, Jun, primary, White, Emily, primary, Wolk, Alicja, primary, Woods, Michael O., primary, Wu, Anna H., primary, Zemlianskaia, Natalia, primary, Hsu, Li, primary, Gauderman, W. James, primary, Peters, Ulrike, primary, Tsilidis, Konstantinos K., primary, and Campbell, Peter T., primary

Published
2023
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45. Table 2 from A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk

Author

Aglago, Elom K., primary, Kim, Andre, primary, Lin, Yi, primary, Qu, Conghui, primary, Evangelou, Marina, primary, Ren, Yu, primary, Morrison, John, primary, Albanes, Demetrius, primary, Arndt, Volker, primary, Barry, Elizabeth L., primary, Baurley, James W., primary, Berndt, Sonja I., primary, Bien, Stephanie A., primary, Bishop, D. Timothy, primary, Bouras, Emmanouil, primary, Brenner, Hermann, primary, Buchanan, Daniel D., primary, Budiarto, Arif, primary, Carreras-Torres, Robert, primary, Casey, Graham, primary, Cenggoro, Tjeng Wawan, primary, Chan, Andrew T., primary, Chang-Claude, Jenny, primary, Chen, Xuechen, primary, Conti, David V., primary, Devall, Matthew, primary, Diez-Obrero, Virginia, primary, Dimou, Niki, primary, Drew, David, primary, Figueiredo, Jane C., primary, Gallinger, Steven, primary, Giles, Graham G., primary, Gruber, Stephen B., primary, Gsur, Andrea, primary, Gunter, Marc J., primary, Hampel, Heather, primary, Harlid, Sophia, primary, Hidaka, Akihisa, primary, Harrison, Tabitha A., primary, Hoffmeister, Michael, primary, Huyghe, Jeroen R., primary, Jenkins, Mark A., primary, Jordahl, Kristina, primary, Joshi, Amit D., primary, Kawaguchi, Eric S., primary, Keku, Temitope O., primary, Kundaje, Anshul, primary, Larsson, Susanna C., primary, Marchand, Loic Le, primary, Lewinger, Juan Pablo, primary, Li, Li, primary, Lynch, Brigid M., primary, Mahesworo, Bharuno, primary, Mandic, Marko, primary, Obón-Santacana, Mireia, primary, Moreno, Victor, primary, Murphy, Neil, primary, Nan, Hongmei, primary, Nassir, Rami, primary, Newcomb, Polly A., primary, Ogino, Shuji, primary, Ose, Jennifer, primary, Pai, Rish K., primary, Palmer, Julie R., primary, Papadimitriou, Nikos, primary, Pardamean, Bens, primary, Peoples, Anita R., primary, Platz, Elizabeth A., primary, Potter, John D., primary, Prentice, Ross L., primary, Rennert, Gad, primary, Ruiz-Narvaez, Edward, primary, Sakoda, Lori C., primary, Scacheri, Peter C., primary, Schmit, Stephanie L., primary, Schoen, Robert E., primary, Shcherbina, Anna, primary, Slattery, Martha L., primary, Stern, Mariana C., primary, Su, Yu-Ru, primary, Tangen, Catherine M., primary, Thibodeau, Stephen N., primary, Thomas, Duncan C., primary, Tian, Yu, primary, Ulrich, Cornelia M., primary, van Duijnhoven, Franzel JB, primary, Van Guelpen, Bethany, primary, Visvanathan, Kala, primary, Vodicka, Pavel, primary, Wang, Jun, primary, White, Emily, primary, Wolk, Alicja, primary, Woods, Michael O., primary, Wu, Anna H., primary, Zemlianskaia, Natalia, primary, Hsu, Li, primary, Gauderman, W. James, primary, Peters, Ulrike, primary, Tsilidis, Konstantinos K., primary, and Campbell, Peter T., primary

Published
2023
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46. Table 1 from A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk

Author

Aglago, Elom K., primary, Kim, Andre, primary, Lin, Yi, primary, Qu, Conghui, primary, Evangelou, Marina, primary, Ren, Yu, primary, Morrison, John, primary, Albanes, Demetrius, primary, Arndt, Volker, primary, Barry, Elizabeth L., primary, Baurley, James W., primary, Berndt, Sonja I., primary, Bien, Stephanie A., primary, Bishop, D. Timothy, primary, Bouras, Emmanouil, primary, Brenner, Hermann, primary, Buchanan, Daniel D., primary, Budiarto, Arif, primary, Carreras-Torres, Robert, primary, Casey, Graham, primary, Cenggoro, Tjeng Wawan, primary, Chan, Andrew T., primary, Chang-Claude, Jenny, primary, Chen, Xuechen, primary, Conti, David V., primary, Devall, Matthew, primary, Diez-Obrero, Virginia, primary, Dimou, Niki, primary, Drew, David, primary, Figueiredo, Jane C., primary, Gallinger, Steven, primary, Giles, Graham G., primary, Gruber, Stephen B., primary, Gsur, Andrea, primary, Gunter, Marc J., primary, Hampel, Heather, primary, Harlid, Sophia, primary, Hidaka, Akihisa, primary, Harrison, Tabitha A., primary, Hoffmeister, Michael, primary, Huyghe, Jeroen R., primary, Jenkins, Mark A., primary, Jordahl, Kristina, primary, Joshi, Amit D., primary, Kawaguchi, Eric S., primary, Keku, Temitope O., primary, Kundaje, Anshul, primary, Larsson, Susanna C., primary, Marchand, Loic Le, primary, Lewinger, Juan Pablo, primary, Li, Li, primary, Lynch, Brigid M., primary, Mahesworo, Bharuno, primary, Mandic, Marko, primary, Obón-Santacana, Mireia, primary, Moreno, Victor, primary, Murphy, Neil, primary, Nan, Hongmei, primary, Nassir, Rami, primary, Newcomb, Polly A., primary, Ogino, Shuji, primary, Ose, Jennifer, primary, Pai, Rish K., primary, Palmer, Julie R., primary, Papadimitriou, Nikos, primary, Pardamean, Bens, primary, Peoples, Anita R., primary, Platz, Elizabeth A., primary, Potter, John D., primary, Prentice, Ross L., primary, Rennert, Gad, primary, Ruiz-Narvaez, Edward, primary, Sakoda, Lori C., primary, Scacheri, Peter C., primary, Schmit, Stephanie L., primary, Schoen, Robert E., primary, Shcherbina, Anna, primary, Slattery, Martha L., primary, Stern, Mariana C., primary, Su, Yu-Ru, primary, Tangen, Catherine M., primary, Thibodeau, Stephen N., primary, Thomas, Duncan C., primary, Tian, Yu, primary, Ulrich, Cornelia M., primary, van Duijnhoven, Franzel JB, primary, Van Guelpen, Bethany, primary, Visvanathan, Kala, primary, Vodicka, Pavel, primary, Wang, Jun, primary, White, Emily, primary, Wolk, Alicja, primary, Woods, Michael O., primary, Wu, Anna H., primary, Zemlianskaia, Natalia, primary, Hsu, Li, primary, Gauderman, W. James, primary, Peters, Ulrike, primary, Tsilidis, Konstantinos K., primary, and Campbell, Peter T., primary

Published
2023
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47. Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes

Author

Mahmood, Khalid, primary, Thomas, Minta, additional, Qu, Conghui, additional, Hsu, Li, additional, Buchanan, Daniel D., additional, Peters, Ulrike, additional, Wang, Xiaoliang, additional, Huyghe, Jeroen R., additional, Joo, Jihoon E., additional, Georgeson, Peter, additional, Arndt, Volker, additional, Berndt, Sonja I., additional, Bézieau, Stéphane, additional, Bien, Stephanie A., additional, Bishop, D. Timothy, additional, Brenner, Hermann, additional, Brezina, Stefanie, additional, Burnett-Hartman, Andrea, additional, Campbell, Peter T., additional, Casey, Graham, additional, Castellví-Bel, Sergi, additional, Chan, Andrew T., additional, Chang-Claude, Jenny, additional, Chen, Xuechen, additional, Conti, David V., additional, Cremolini, Chiara, additional, Diergaarde, Brenda, additional, Figueiredo, Jane C., additional, FitzGerald, Liesel M., additional, Gago-Dominguez, Manuela, additional, Gallinger, Steven, additional, Giles, Graham G., additional, Gsu, Andrea, additional, Gunter, Marc J., additional, Hampe, Jochen, additional, Hampel, Heather, additional, Harrison, Tabitha A., additional, Hoffmeister, Michael, additional, Keku, Temitope O., additional, Kundaje, Anshul, additional, Le Marchand, Loic, additional, Lenz, Heinz-Josef, additional, Li, Christopher I., additional, Li, Li, additional, Lin, Yi, additional, Lindblom, Annika, additional, Moreno, Victor, additional, Murphy, Neil, additional, Newcomb, Polly A., additional, Newton, Christina C., additional, Obón-Santacana, Mireia, additional, Ogino, Shuji, additional, Pai, Rish K., additional, Palmer, Julie R., additional, Pearlman, Rachel, additional, Pharoah, Paul D.P., additional, Phipps, Amanda I., additional, Platz, Elizabeth A., additional, Potter, John D., additional, Rennert, Gad, additional, Sakoda, Lori C., additional, Schafmayer, Clemens, additional, Schmit, Stephanie L., additional, Schoen, Robert E., additional, Slattery, Martha L., additional, Stadler, Zsofia K., additional, Steinfelder, Robert S., additional, Thibodeau, Stephen N., additional, Ulrich, Cornelia M., additional, Um, Caroline Y., additional, van Duijnhoven, Franzel J.B., additional, Van Guelpen, Bethany, additional, Visvanathan, Kala, additional, Vodicka, Pavel, additional, Vodickova, Ludmila, additional, Vymetalkova, Veronika, additional, Weinstein, Stephanie J., additional, White, Emily, additional, Winship, Ingrid M., additional, Wolk, Alicja, additional, Gruber, Stephen B., additional, and Jenkins, Mark A., additional

Published
2023
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50. Circulating bilirubin levels and risk of colorectal cancer: serological and Mendelian randomization analyses

Author

Seyed Khoei, Nazlisadat, Jenab, Mazda, Murphy, Neil, Banbury, Barbara L., Carreras-Torres, Robert, Viallon, Vivian, Kühn, Tilman, Bueno-de-Mesquita, Bas, Aleksandrova, Krasimira, Cross, Amanda J., Weiderpass, Elisabete, Stepien, Magdalena, Bulmer, Andrew, Tjønneland, Anne, Boutron-Ruault, Marie-Christine, Severi, Gianluca, Carbonnel, Franck, Katzke, Verena, Boeing, Heiner, Bergmann, Manuela M., Trichopoulou, Antonia, Karakatsani, Anna, Martimianaki, Georgia, Palli, Domenico, Tagliabue, Giovanna, Panico, Salvatore, Tumino, Rosario, Sacerdote, Carlotta, Skeie, Guri, Merino, Susana, Bonet, Catalina, Rodríguez-Barranco, Miguel, Gil, Leire, Chirlaque, Maria-Dolores, Ardanaz, Eva, Myte, Robin, Hultdin, Johan, Perez-Cornago, Aurora, Aune, Dagfinn, Tsilidis, Konstantinos K., Albanes, Demetrius, Baron, John A., Berndt, Sonja I., Bézieau, Stéphane, Brenner, Hermann, Campbell, Peter T., Casey, Graham, Chan, Andrew T., Chang-Claude, Jenny, Chanock, Stephen J., Cotterchio, Michelle, Gallinger, Steven, Gruber, Stephen B., Haile, Robert W., Hampe, Jochen, Hoffmeister, Michael, Hopper, John L., Hsu, Li, Huyghe, Jeroen R., Jenkins, Mark A., Joshi, Amit D., Kampman, Ellen, Larsson, Susanna C., Le Marchand, Loic, Li, Christopher I., Li, Li, Lindblom, Annika, Lindor, Noralane M., Martín, Vicente, Moreno, Victor, Newcomb, Polly A., Offit, Kenneth, Ogino, Shuji, Parfrey, Patrick S., Pharoah, Paul D. P., Rennert, Gad, Sakoda, Lori C., Schafmayer, Clemens, Schmit, Stephanie L., Schoen, Robert E., Slattery, Martha L., Thibodeau, Stephen N., Ulrich, Cornelia M., van Duijnhoven, Franzel J. B., Weigl, Korbinian, Weinstein, Stephanie J., White, Emily, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Zhang, Xuehong, Ferrari, Pietro, Anton, Gabriele, Peters, Annette, Peters, Ulrike, Gunter, Marc J., Wagner, Karl-Heinz, and Freisling, Heinz

Published
2020
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