382 results on '"Gillanders, Elizabeth"'
Search Results
2. Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry
- Author
-
Graff, Mariaelisa, Justice, Anne E, Young, Kristin L, Marouli, Eirini, Zhang, Xinruo, Fine, Rebecca S, Lim, Elise, Buchanan, Victoria, Rand, Kristin, Feitosa, Mary F, Wojczynski, Mary K, Yanek, Lisa R, Shao, Yaming, Rohde, Rebecca, Adeyemo, Adebowale A, Aldrich, Melinda C, Allison, Matthew A, Ambrosone, Christine B, Ambs, Stefan, Amos, Christopher, Arnett, Donna K, Atwood, Larry, Bandera, Elisa V, Bartz, Traci, Becker, Diane M, Berndt, Sonja I, Bernstein, Leslie, Bielak, Lawrence F, Blot, William J, Bottinger, Erwin P, Bowden, Donald W, Bradfield, Jonathan P, Brody, Jennifer A, Broeckel, Ulrich, Burke, Gregory, Cade, Brian E, Cai, Qiuyin, Caporaso, Neil, Carlson, Chris, Carpten, John, Casey, Graham, Chanock, Stephen J, Chen, Guanjie, Chen, Minhui, Chen, Yii-Der I, Chen, Wei-Min, Chesi, Alessandra, Chiang, Charleston WK, Chu, Lisa, Coetzee, Gerry A, Conti, David V, Cooper, Richard S, Cushman, Mary, Demerath, Ellen, Deming, Sandra L, Dimitrov, Latchezar, Ding, Jingzhong, Diver, W Ryan, Duan, Qing, Evans, Michele K, Falusi, Adeyinka G, Faul, Jessica D, Fornage, Myriam, Fox, Caroline, Freedman, Barry I, Garcia, Melissa, Gillanders, Elizabeth M, Goodman, Phyllis, Gottesman, Omri, Grant, Struan FA, Guo, Xiuqing, Hakonarson, Hakon, Haritunians, Talin, Harris, Tamara B, Harris, Curtis C, Henderson, Brian E, Hennis, Anselm, Hernandez, Dena G, Hirschhorn, Joel N, McNeill, Lorna Haughton, Howard, Timothy D, Howard, Barbara, Hsing, Ann W, Hsu, Yu-Han H, Hu, Jennifer J, Huff, Chad D, Huo, Dezheng, Ingles, Sue A, Irvin, Marguerite R, John, Esther M, Johnson, Karen C, Jordan, Joanne M, Kabagambe, Edmond K, Kang, Sun J, Kardia, Sharon L, Keating, Brendan J, Kittles, Rick A, Klein, Eric A, Kolb, Suzanne, and Kolonel, Laurence N
- Subjects
Human Genome ,Genetics ,Africa ,Black or African American ,Black People ,Body Height ,Europe ,Female ,Genome-Wide Association Study ,Humans ,Male ,Polymorphism ,Single Nucleotide ,African ancestry ,fine-mapping ,genome-wide ,height ,Biological Sciences ,Medical and Health Sciences ,Genetics & Heredity - Abstract
Although many loci have been associated with height in European ancestry populations, very few have been identified in African ancestry individuals. Furthermore, many of the known loci have yet to be generalized to and fine-mapped within a large-scale African ancestry sample. We performed sex-combined and sex-stratified meta-analyses in up to 52,764 individuals with height and genome-wide genotyping data from the African Ancestry Anthropometry Genetics Consortium (AAAGC). We additionally combined our African ancestry meta-analysis results with published European genome-wide association study (GWAS) data. In the African ancestry analyses, we identified three novel loci (SLC4A3, NCOA2, ECD/FAM149B1) in sex-combined results and two loci (CRB1, KLF6) in women only. In the African plus European sex-combined GWAS, we identified an additional three novel loci (RCCD1, G6PC3, CEP95) which were equally driven by AAAGC and European results. Among 39 genome-wide significant signals at known loci, conditioning index SNPs from European studies identified 20 secondary signals. Two of the 20 new secondary signals and none of the 8 novel loci had minor allele frequencies (MAF) < 5%. Of 802 known European height signals, 643 displayed directionally consistent associations with height, of which 205 were nominally significant (p < 0.05) in the African ancestry sex-combined sample. Furthermore, 148 of 241 loci contained ≤20 variants in the credible sets that jointly account for 99% of the posterior probability of driving the associations. In summary, trans-ethnic meta-analyses revealed novel signals and further improved fine-mapping of putative causal variants in loci shared between African and European ancestry populations.
- Published
- 2021
3. Raising Awareness and Education of Genetic Testing and Counseling through Fotonovelas among Latina Women At Risk for Hereditary Breast or Ovarian Cancer
- Author
-
Barajas, Rolando, primary, Barajas, Clara B., additional, Ramos, Yaideliz M. Romero, additional, Trillos, Sara Gómez, additional, Sawhney, Sabrina, additional, Campos, Claudia, additional, Hurtado-de-Mendoza, Alejandra, additional, Rotunno, Melissa, additional, and Gillanders, Elizabeth, additional
- Published
- 2024
- Full Text
- View/download PDF
4. Engaging the Public: Citizen Science
- Author
-
Couch, Jennifer, Theisz, Katrina, Gillanders, Elizabeth, Hall, Kara L., editor, Vogel, Amanda L., editor, and Croyle, Robert T., editor
- Published
- 2019
- Full Text
- View/download PDF
5. Genome-wide association study confirms lung cancer susceptibility loci on chromosomes 5p15 and 15q25 in an African-American population
- Author
-
Zanetti, Krista A, Wang, Zhaoming, Aldrich, Melinda, Amos, Christopher I, Blot, William J, Bowman, Elise D, Burdette, Laurie, Cai, Qiuyin, Caporaso, Neil, Chung, Charles C, Gillanders, Elizabeth M, Haiman, Christopher A, Hansen, Helen M, Henderson, Brian E, Kolonel, Laurence N, Le Marchand, Loic, Li, Shengchao, McNeill, Lorna Haughton, Ryan, Bríd M, Schwartz, Ann G, Sison, Jennette D, Spitz, Margaret R, Tucker, Margaret, Wenzlaff, Angela S, Wiencke, John K, Wilkens, Lynne, Wrensch, Margaret R, Wu, Xifeng, Zheng, Wei, Zhou, Weiyin, Christiani, David, Palmer, Julie R, Penning, Trevor M, Rieber, Alyssa G, Rosenberg, Lynn, Ruiz-Narvaez, Edward A, Su, Li, Vachani, Anil, Wei, Yongyue, Whitehead, Alexander S, Chanock, Stephen J, and Harris, Curtis C
- Subjects
Biomedical and Clinical Sciences ,Oncology and Carcinogenesis ,Prevention ,Women's Health ,Human Genome ,Clinical Research ,Lung Cancer ,Lung ,Cancer ,Genetics ,2.1 Biological and endogenous factors ,Respiratory ,Black or African American ,Case-Control Studies ,Chromosomes ,Human ,Pair 15 ,Chromosomes ,Human ,Pair 5 ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Humans ,Lung Neoplasms ,Polymorphism ,Single Nucleotide ,Population Surveillance ,Quantitative Trait Loci ,Genome-wide association study ,Lung neoplasms ,Smoking ,African Americans ,Telomerase ,Receptors ,Cholinergic ,Clinical Sciences ,Oncology & Carcinogenesis ,Clinical sciences ,Oncology and carcinogenesis - Abstract
ObjectivesGenome-wide association studies (GWAS) of lung cancer have identified regions of common genetic variation with lung cancer risk in Europeans who smoke and never-smoking Asian women. This study aimed to conduct a GWAS in African Americans, who have higher rates of lung cancer despite smoking fewer cigarettes per day when compared with Caucasians. This population provides a different genetic architecture based on underlying African ancestry allowing the identification of new regions and exploration of known regions for finer mapping.Materials and methodsWe genotyped 1,024,001 SNPs in 1737 cases and 3602 controls in stage 1, followed by a replication phase of 20 SNPs (p
- Published
- 2016
6. Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome
- Author
-
Machiela, Mitchell J, Zhou, Weiyin, Karlins, Eric, Sampson, Joshua N, Freedman, Neal D, Yang, Qi, Hicks, Belynda, Dagnall, Casey, Hautman, Christopher, Jacobs, Kevin B, Abnet, Christian C, Aldrich, Melinda C, Amos, Christopher, Amundadottir, Laufey T, Arslan, Alan A, Beane-Freeman, Laura E, Berndt, Sonja I, Black, Amanda, Blot, William J, Bock, Cathryn H, Bracci, Paige M, Brinton, Louise A, Bueno-de-Mesquita, H Bas, Burdett, Laurie, Buring, Julie E, Butler, Mary A, Canzian, Federico, Carreon, Tania, Chaffee, Kari G, Chang, I-Shou, Chatterjee, Nilanjan, Chen, Chu, Chen, Constance, Chen, Kexin, Chung, Charles C, Cook, Linda S, Bou, Marta Crous, Cullen, Michael, Davis, Faith G, De Vivo, Immaculata, Ding, Ti, Doherty, Jennifer, Duell, Eric J, Epstein, Caroline G, Fan, Jin-Hu, Figueroa, Jonine D, Fraumeni, Joseph F, Friedenreich, Christine M, Fuchs, Charles S, Gallinger, Steven, Gao, Yu-Tang, Gapstur, Susan M, Garcia-Closas, Montserrat, Gaudet, Mia M, Gaziano, J Michael, Giles, Graham G, Gillanders, Elizabeth M, Giovannucci, Edward L, Goldin, Lynn, Goldstein, Alisa M, Haiman, Christopher A, Hallmans, Goran, Hankinson, Susan E, Harris, Curtis C, Henriksson, Roger, Holly, Elizabeth A, Hong, Yun-Chul, Hoover, Robert N, Hsiung, Chao A, Hu, Nan, Hu, Wei, Hunter, David J, Hutchinson, Amy, Jenab, Mazda, Johansen, Christoffer, Khaw, Kay-Tee, Kim, Hee Nam, Kim, Yeul Hong, Kim, Young Tae, Klein, Alison P, Klein, Robert, Koh, Woon-Puay, Kolonel, Laurence N, Kooperberg, Charles, Kraft, Peter, Krogh, Vittorio, Kurtz, Robert C, LaCroix, Andrea, Lan, Qing, Landi, Maria Teresa, Le Marchand, Loic, Li, Donghui, Liang, Xiaolin, Liao, Linda M, Lin, Dongxin, Liu, Jianjun, Lissowska, Jolanta, Lu, Lingeng, Magliocco, Anthony M, and Malats, Nuria
- Published
- 2016
7. Genome-wide scan of 29,141 African Americans finds no evidence of selection since admixture
- Author
-
Bhatia, Gaurav, Tandon, Arti, Aldrich, Melinda C., Ambrosone, Christine B., Amos, Christopher, Bandera, Elisa V., Berndt, Sonja I., Bernstein, Leslie, Blot, William J., Bock, Cathryn H., Caporaso, Neil, Casey, Graham, Deming, Sandra L., Diver, W. Ryan, Gapstur, Susan M., Gillanders, Elizabeth M., Harris, Curtis C., Henderson, Brian E., Ingles, Sue A., Isaacs, William, John, Esther M., Kittles, Rick A., Larkin, Emma, McNeill, Lorna H., Millikan, Robert C., Murphy, Adam, Neslund-Dudas, Christine, Nyante, Sarah, Press, Michael F., Rodriguez-Gil, Jorge L., Rybicki, Benjamin A., Schwartz, Ann G., Signorello, Lisa B., Spitz, Margaret, Strom, Sara S., Tucker, Margaret A., Wiencke, John K., Witte, John S., Wu, Xifeng, Yamamura, Yuko, Zanetti, Krista A., Zheng, Wei, Ziegler, Regina G., Chanock, Stephen J., Haiman, Christopher A., Reich, David, and Price, Alkes L.
- Subjects
Quantitative Biology - Populations and Evolution - Abstract
We scanned through the genomes of 29,141 African Americans, searching for loci where the average proportion of African ancestry deviates significantly from the genome-wide average. We failed to find any genome-wide significant deviations, and conclude that any selection in African Americans since admixture is sufficiently weak that it falls below the threshold of our power to detect it using a large sample size. These results stand in contrast to the findings of a recent study of selection in African Americans. That study, which had 15 times fewer samples, reported six loci with significant deviations. We show that the discrepancy is likely due to insufficient correction for multiple hypothesis testing in the previous study. The same study reported 14 loci that showed greater population differentiation between African Americans and Nigerian Yoruba than would be expected in the absence of natural selection. Four such loci were previously shown to be genome-wide significant and likely to be affected by selection, but we show that most of the 10 additional loci are likely to be false positives. Additionally, the most parsimonious explanation for the loci that have significant evidence of unusual differentiation in frequency between Nigerians and Africans Americans is selection in Africa prior to their forced migration to the Americas.
- Published
- 2013
8. Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility
- Author
-
Landi, Maria Teresa, Bishop, D. Timothy, MacGregor, Stuart, Machiela, Mitchell J., Stratigos, Alexander J., Ghiorzo, Paola, Brossard, Myriam, Calista, Donato, Choi, Jiyeon, Fargnoli, Maria Concetta, Zhang, Tongwu, Rodolfo, Monica, Trower, Adam J., Menin, Chiara, Martinez, Jacobo, Hadjisavvas, Andreas, Song, Lei, Stefanaki, Irene, Scolyer, Richard, Yang, Rose, Goldstein, Alisa M., Potrony, Miriam, Kypreou, Katerina P., Pastorino, Lorenza, Queirolo, Paola, Pellegrini, Cristina, Cattaneo, Laura, Zawistowski, Matthew, Gimenez-Xavier, Pol, Rodriguez, Arantxa, Elefanti, Lisa, Manoukian, Siranoush, Rivoltini, Licia, Smith, Blair H., Loizidou, Maria A., Del Regno, Laura, Massi, Daniela, Mandala, Mario, Khosrotehrani, Kiarash, Akslen, Lars A., Amos, Christopher I., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Soyer, H. Peter, Bataille, Veronique, Dalmasso, Bruna, Bowdler, Lisa M., Burdon, Kathryn P., Chen, Wei V., Codd, Veryan, Craig, Jamie E., Dębniak, Tadeusz, Falchi, Mario, Fang, Shenying, Friedman, Eitan, Simi, Sarah, Galan, Pilar, Garcia-Casado, Zaida, Gillanders, Elizabeth M., Gordon, Scott, Green, Adele, Gruis, Nelleke A., Hansson, Johan, Harland, Mark, Harris, Jessica, Helsing, Per, Henders, Anjali, Hočevar, Marko, Höiom, Veronica, Hunter, David, Ingvar, Christian, Kumar, Rajiv, Lang, Julie, Lathrop, G. Mark, Lee, Jeffrey E., Li, Xin, Lubiński, Jan, Mackie, Rona M., Malt, Maryrose, Malvehy, Josep, McAloney, Kerrie, Mohamdi, Hamida, Molven, Anders, Moses, Eric K., Neale, Rachel E., Novaković, Srdjan, Nyholt, Dale R., Olsson, Håkan, Orr, Nicholas, Fritsche, Lars G., Puig-Butille, Joan Anton, Qureshi, Abrar A., Radford-Smith, Graham L., Randerson-Moor, Juliette, Requena, Celia, Rowe, Casey, Samani, Nilesh J., Sanna, Marianna, Schadendorf, Dirk, Schulze, Hans-Joachim, Simms, Lisa A., Smithers, Mark, Song, Fengju, Swerdlow, Anthony J., van der Stoep, Nienke, Kukutsch, Nicole A., Visconti, Alessia, Wallace, Leanne, Ward, Sarah V., Wheeler, Lawrie, Sturm, Richard A., Hutchinson, Amy, Jones, Kristine, Malasky, Michael, Vogt, Aurelie, Zhou, Weiyin, Pooley, Karen A., Elder, David E., Han, Jiali, Hicks, Belynda, Hayward, Nicholas K., Kanetsky, Peter A., Brummett, Chad, Montgomery, Grant W., Olsen, Catherine M., Hayward, Caroline, Dunning, Alison M., Martin, Nicholas G., Evangelou, Evangelos, Mann, Graham J., Long, Georgina, Pharoah, Paul D. P., Easton, Douglas F., Barrett, Jennifer H., Cust, Anne E., Abecasis, Goncalo, Duffy, David L., Whiteman, David C., Gogas, Helen, De Nicolo, Arcangela, Tucker, Margaret A., Newton-Bishop, Julia A., Peris, Ketty, Chanock, Stephen J., Demenais, Florence, Brown, Kevin M., Puig, Susana, Nagore, Eduardo, Shi, Jianxin, Iles, Mark M., and Law, Matthew H.
- Published
- 2020
- Full Text
- View/download PDF
9. Characterization of Large Structural Genetic Mosaicism in Human Autosomes
- Author
-
Machiela, Mitchell J, Zhou, Weiyin, Sampson, Joshua N, Dean, Michael C, Jacobs, Kevin B, Black, Amanda, Brinton, Louise A, Chang, I-Shou, Chen, Chu, Chen, Constance, Chen, Kexin, Cook, Linda S, Bou, Marta Crous, De Vivo, Immaculata, Doherty, Jennifer, Friedenreich, Christine M, Gaudet, Mia M, Haiman, Christopher A, Hankinson, Susan E, Hartge, Patricia, Henderson, Brian E, Hong, Yun-Chul, Hosgood, H Dean, Hsiung, Chao A, Hu, Wei, Hunter, David J, Jessop, Lea, Kim, Hee Nam, Kim, Yeul Hong, Kim, Young Tae, Klein, Robert, Kraft, Peter, Lan, Qing, Lin, Dongxin, Liu, Jianjun, Le Marchand, Loic, Liang, Xiaolin, Lissowska, Jolanta, Lu, Lingeng, Magliocco, Anthony M, Matsuo, Keitaro, Olson, Sara H, Orlow, Irene, Park, Jae Yong, Pooler, Loreall, Prescott, Jennifer, Rastogi, Radhai, Risch, Harvey A, Schumacher, Fredrick, Seow, Adeline, Setiawan, Veronica Wendy, Shen, Hongbing, Sheng, Xin, Shin, Min-Ho, Shu, Xiao-Ou, Berg, David VanDen, Wang, Jiu-Cun, Wentzensen, Nicolas, Wong, Maria Pik, Wu, Chen, Wu, Tangchun, Wu, Yi-Long, Xia, Lucy, Yang, Hannah P, Yang, Pan-Chyr, Zheng, Wei, Zhou, Baosen, Abnet, Christian C, Albanes, Demetrius, Aldrich, Melinda C, Amos, Christopher, Amundadottir, Laufey T, Berndt, Sonja I, Blot, William J, Bock, Cathryn H, Bracci, Paige M, Burdett, Laurie, Buring, Julie E, Butler, Mary A, Carreón, Tania, Chatterjee, Nilanjan, Chung, Charles C, Cook, Michael B, Cullen, Michael, Davis, Faith G, Ding, Ti, Duell, Eric J, Epstein, Caroline G, Fan, Jin-Hu, Figueroa, Jonine D, Fraumeni, Joseph F, Freedman, Neal D, Fuchs, Charles S, Gao, Yu-Tang, Gapstur, Susan M, Patiño-Garcia, Ana, Garcia-Closas, Montserrat, Gaziano, J Michael, Giles, Graham G, and Gillanders, Elizabeth M
- Subjects
Biological Sciences ,Genetics ,Human Genome ,Clinical Research ,2.1 Biological and endogenous factors ,Aetiology ,Aged ,Chromosome Aberrations ,Female ,Genome ,Human ,Genome-Wide Association Study ,Genotype ,Humans ,Male ,Middle Aged ,Mosaicism ,Neoplasms ,Medical and Health Sciences ,Genetics & Heredity ,Biological sciences ,Biomedical and clinical sciences ,Health sciences - Abstract
Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a set of 24,849 genotyped individuals (total GWAS set II [TGSII]) in whom 341 large autosomal abnormalities were observed in 168 (0.68%) individuals. Merging data from the new TGSII set with data from two prior reports (the Gene-Environment Association Studies and the total GWAS set I) generated a large dataset of 127,179 individuals; we then conducted a meta-analysis to investigate the patterns of detectable autosomal mosaicism (n = 1,315 events in 925 [0.73%] individuals). Restricting to events >2 Mb in size, we observed an increase in event frequency as event size decreased. The combined results underscore that the rate of detectable mosaicism increases with age (p value = 5.5 × 10(-31)) and is higher in men (p value = 0.002) but lower in participants of African ancestry (p value = 0.003). In a subset of 47 individuals from whom serial samples were collected up to 6 years apart, complex changes were noted over time and showed an overall increase in the proportion of mosaic cells as age increased. Our large combined sample allowed for a unique ability to characterize detectable genetic mosaicism involving large structural events and strengthens the emerging evidence of non-random erosion of the genome in the aging population.
- Published
- 2015
10. Genetic Simulation Tools for Post‐Genome Wide Association Studies of Complex Diseases
- Author
-
Chen, Huann-Sheng, Hutter, Carolyn M, Mechanic, Leah E, Amos, Christopher I, Bafna, Vineet, Hauser, Elizabeth R, Hernandez, Ryan D, Li, Chun, Liberles, David A, McAllister, Kimberly, Moore, Jason H, Paltoo, Dina N, Papanicolaou, George J, Peng, Bo, Ritchie, Marylyn D, Rosenfeld, Gabriel, Witte, John S, Gillanders, Elizabeth M, and Feuer, Eric J
- Subjects
Genetics ,Cancer ,Biotechnology ,Human Genome ,Computer Simulation ,Disease ,Genome-Wide Association Study ,Genomics ,Humans ,Models ,Genetic ,Molecular Epidemiology ,Software ,genetic simulation ,rare variants ,next-generation sequencing ,complex phenotypes ,computational resources ,Public Health and Health Services ,Epidemiology - Abstract
Genetic simulation programs are used to model data under specified assumptions to facilitate the understanding and study of complex genetic systems. Standardized data sets generated using genetic simulation are essential for the development and application of novel analytical tools in genetic epidemiology studies. With continuing advances in high-throughput genomic technologies and generation and analysis of larger, more complex data sets, there is a need for updating current approaches in genetic simulation modeling. To provide a forum to address current and emerging challenges in this area, the National Cancer Institute (NCI) sponsored a workshop, entitled "Genetic Simulation Tools for Post-Genome Wide Association Studies of Complex Diseases" at the National Institutes of Health (NIH) in Bethesda, Maryland on March 11-12, 2014. The goals of the workshop were to (1) identify opportunities, challenges, and resource needs for the development and application of genetic simulation models; (2) improve the integration of tools for modeling and analysis of simulated data; and (3) foster collaborations to facilitate development and applications of genetic simulation. During the course of the meeting, the group identified challenges and opportunities for the science of simulation, software and methods development, and collaboration. This paper summarizes key discussions at the meeting, and highlights important challenges and opportunities to advance the field of genetic simulation.
- Published
- 2015
11. Genome-wide scan of 29,141 African Americans finds no evidence of directional selection since admixture.
- Author
-
Bhatia, Gaurav, Tandon, Arti, Patterson, Nick, Aldrich, Melinda, Ambrosone, Christine, Amos, Christopher, Bandera, Elisa, Berndt, Sonja, Bernstein, Leslie, Blot, William, Bock, Cathryn, Caporaso, Neil, Casey, Graham, Deming, Sandra, Diver, W, Gapstur, Susan, Gillanders, Elizabeth, Harris, Curtis, Henderson, Brian, Ingles, Sue, Isaacs, William, De Jager, Phillip, John, Esther, Kittles, Rick, Larkin, Emma, McNeill, Lorna, Millikan, Robert, Murphy, Adam, Neslund-Dudas, Christine, Nyante, Sarah, Press, Michael, Rodriguez-Gil, Jorge, Rybicki, Benjamin, Schwartz, Ann, Signorello, Lisa, Spitz, Margaret, Strom, Sara, Tucker, Margaret, Wu, Xifeng, Yamamura, Yuko, Zanetti, Krista, Zheng, Wei, Ziegler, Regina, Chanock, Stephen, Haiman, Christopher, Reich, David, Price, Alkes, Wiencke, John, and Witte, John
- Subjects
Black People ,Chromosomes ,Human ,Evolution ,Molecular ,Gene Frequency ,Genetics ,Population ,Genome ,Human ,Genome-Wide Association Study ,Haplotypes ,Humans ,Polymorphism ,Single Nucleotide ,Selection ,Genetic ,White People - Abstract
The extent of recent selection in admixed populations is currently an unresolved question. We scanned the genomes of 29,141 African Americans and failed to find any genome-wide-significant deviations in local ancestry, indicating no evidence of selection influencing ancestry after admixture. A recent analysis of data from 1,890 African Americans reported that there was evidence of selection in African Americans after their ancestors left Africa, both before and after admixture. Selection after admixture was reported on the basis of deviations in local ancestry, and selection before admixture was reported on the basis of allele-frequency differences between African Americans and African populations. The local-ancestry deviations reported by the previous study did not replicate in our very large sample, and we show that such deviations were expected purely by chance, given the number of hypotheses tested. We further show that the previous studys conclusion of selection in African Americans before admixture is also subject to doubt. This is because the FST statistics they used were inflated and because true signals of unusual allele-frequency differences between African Americans and African populations would be best explained by selection that occurred in Africa prior to migration to the Americas.
- Published
- 2014
12. Gene‐Environment Interactions in Cancer Epidemiology: A National Cancer Institute Think Tank Report
- Author
-
Hutter, Carolyn M, Mechanic, Leah E, Chatterjee, Nilanjan, Kraft, Peter, and Gillanders, Elizabeth M
- Subjects
Human Genome ,Cancer ,Genetics ,Prevention ,Aetiology ,2.1 Biological and endogenous factors ,Gene-Environment Interaction ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Humans ,Motivation ,National Cancer Institute (U.S.) ,Neoplasms ,Public Health ,Reproducibility of Results ,Research Report ,Risk ,Sample Size ,United States ,NCI Gene-Environment Think Tank ,complex phenotypes ,gene-environment interactions ,genetic epidemiology ,Public Health and Health Services ,Epidemiology - Abstract
Cancer risk is determined by a complex interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified hundreds of common (minor allele frequency [MAF] > 0.05) and less common (0.01 < MAF < 0.05) genetic variants associated with cancer. The marginal effects of most of these variants have been small (odds ratios: 1.1-1.4). There remain unanswered questions on how best to incorporate the joint effects of genes and environment, including gene-environment (G × E) interactions, into epidemiologic studies of cancer. To help address these questions, and to better inform research priorities and allocation of resources, the National Cancer Institute sponsored a "Gene-Environment Think Tank" on January 10-11, 2012. The objective of the Think Tank was to facilitate discussions on (1) the state of the science, (2) the goals of G × E interaction studies in cancer epidemiology, and (3) opportunities for developing novel study designs and analysis tools. This report summarizes the Think Tank discussion, with a focus on contemporary approaches to the analysis of G × E interactions. Selecting the appropriate methods requires first identifying the relevant scientific question and rationale, with an important distinction made between analyses aiming to characterize the joint effects of putative or established genetic and environmental factors and analyses aiming to discover novel risk factors or novel interaction effects. Other discussion items include measurement error, statistical power, significance, and replication. Additional designs, exposure assessments, and analytical approaches need to be considered as we move from the current small number of success stories to a fuller understanding of the interplay of genetic and environmental factors.
- Published
- 2013
13. A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry
- Author
-
Monda, Keri L, Chen, Gary K, Taylor, Kira C, Palmer, Cameron, Edwards, Todd L, Lange, Leslie A, Ng, Maggie CY, Adeyemo, Adebowale A, Allison, Matthew A, Bielak, Lawrence F, Chen, Guanjie, Graff, Mariaelisa, Irvin, Marguerite R, Rhie, Suhn K, Li, Guo, Liu, Yongmei, Liu, Youfang, Lu, Yingchang, Nalls, Michael A, Sun, Yan V, Wojczynski, Mary K, Yanek, Lisa R, Aldrich, Melinda C, Ademola, Adeyinka, Amos, Christopher I, Bandera, Elisa V, Bock, Cathryn H, Britton, Angela, Broeckel, Ulrich, Cai, Quiyin, Caporaso, Neil E, Carlson, Chris S, Carpten, John, Casey, Graham, Chen, Wei-Min, Chen, Fang, Chen, Yii-Der I, Chiang, Charleston WK, Coetzee, Gerhard A, Demerath, Ellen, Deming-Halverson, Sandra L, Driver, Ryan W, Dubbert, Patricia, Feitosa, Mary F, Feng, Ye, Freedman, Barry I, Gillanders, Elizabeth M, Gottesman, Omri, Guo, Xiuqing, Haritunians, Talin, Harris, Tamara, Harris, Curtis C, Hennis, Anselm JM, Hernandez, Dena G, McNeill, Lorna H, Howard, Timothy D, Howard, Barbara V, Howard, Virginia J, Johnson, Karen C, Kang, Sun J, Keating, Brendan J, Kolb, Suzanne, Kuller, Lewis H, Kutlar, Abdullah, Langefeld, Carl D, Lettre, Guillaume, Lohman, Kurt, Lotay, Vaneet, Lyon, Helen, Manson, JoAnn E, Maixner, William, Meng, Yan A, Monroe, Kristine R, Morhason-Bello, Imran, Murphy, Adam B, Mychaleckyj, Josyf C, Nadukuru, Rajiv, Nathanson, Katherine L, Nayak, Uma, N'Diaye, Amidou, Nemesure, Barbara, Wu, Suh-Yuh, Leske, M Cristina, Neslund-Dudas, Christine, Neuhouser, Marian, Nyante, Sarah, Ochs-Balcom, Heather, Ogunniyi, Adesola, Ogundiran, Temidayo O, Ojengbede, Oladosu, Olopade, Olufunmilayo I, Palmer, Julie R, Ruiz-Narvaez, Edward A, Palmer, Nicholette D, Press, Michael F, Rampersaud, Evandine, Rasmussen-Torvik, Laura J, Rodriguez-Gil, Jorge L, Salako, Babatunde, and Schadt, Eric E
- Subjects
Biological Sciences ,Genetics ,Human Genome ,Black or African American ,Body Mass Index ,Case-Control Studies ,Gene Frequency ,Genetic Loci ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Humans ,Linkage Disequilibrium ,Obesity ,Polymorphism ,Single Nucleotide ,NABEC Consortium ,UKBEC Consortium ,BioBank Japan Project ,AGEN Consortium ,Medical and Health Sciences ,Developmental Biology ,Agricultural biotechnology ,Bioinformatics and computational biology - Abstract
Genome-wide association studies (GWAS) have identified 36 loci associated with body mass index (BMI), predominantly in populations of European ancestry. We conducted a meta-analysis to examine the association of >3.2 million SNPs with BMI in 39,144 men and women of African ancestry and followed up the most significant associations in an additional 32,268 individuals of African ancestry. We identified one new locus at 5q33 (GALNT10, rs7708584, P = 3.4 × 10(-11)) and another at 7p15 when we included data from the GIANT consortium (MIR148A-NFE2L3, rs10261878, P = 1.2 × 10(-10)). We also found suggestive evidence of an association at a third locus at 6q16 in the African-ancestry sample (KLHL32, rs974417, P = 6.9 × 10(-8)). Thirty-two of the 36 previously established BMI variants showed directionally consistent effect estimates in our GWAS (binomial P = 9.7 × 10(-7)), five of which reached genome-wide significance. These findings provide strong support for shared BMI loci across populations, as well as for the utility of studying ancestrally diverse populations.
- Published
- 2013
14. 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
- Full Text
- View/download PDF
15. The landscape of recombination in African Americans
- Author
-
Hinch, Anjali G, Tandon, Arti, Patterson, Nick, Song, Yunli, Rohland, Nadin, Palmer, Cameron D, Chen, Gary K, Wang, Kai, Buxbaum, Sarah G, Akylbekova, Ermeg L, Aldrich, Melinda C, Ambrosone, Christine B, Amos, Christopher, Bandera, Elisa V, Berndt, Sonja I, Bernstein, Leslie, Blot, William J, Bock, Cathryn H, Boerwinkle, Eric, Cai, Qiuyin, Caporaso, Neil, Casey, Graham, Adrienne Cupples, L, Deming, Sandra L, Ryan Diver, W, Divers, Jasmin, Fornage, Myriam, Gillanders, Elizabeth M, Glessner, Joseph, Harris, Curtis C, Hu, Jennifer J, Ingles, Sue A, Isaacs, William, John, Esther M, Linda Kao, WH, Keating, Brendan, Kittles, Rick A, Kolonel, Laurence N, Larkin, Emma, Le Marchand, Loic, McNeill, Lorna H, Millikan, Robert C, Murphy, Musani, Solomon, Neslund-Dudas, Christine, Nyante, Sarah, Papanicolaou, George J, Press, Michael F, Psaty, Bruce M, Reiner, Alex P, Rich, Stephen S, Rodriguez-Gil, Jorge L, Rotter, Jerome I, Rybicki, Benjamin A, Schwartz, Ann G, Signorello, Lisa B, Spitz, Margaret, Strom, Sara S, Thun, Michael J, Tucker, Margaret A, Wang, Zhaoming, Wiencke, John K, Witte, John S, Wrensch, Margaret, Wu, Xifeng, Yamamura, Yuko, Zanetti, Krista A, Zheng, Wei, Ziegler, Regina G, Zhu, Xiaofeng, Redline, Susan, Hirschhorn, Joel N, Henderson, Brian E, Taylor Jr, Herman A, Price, Alkes L, Hakonarson, Hakon, Chanock, Stephen J, Haiman, Christopher A, Wilson, James G, Reich, David, and Myers, Simon R
- Subjects
Biological Sciences ,Genetics ,Biotechnology ,Human Genome ,Africa ,Western ,Black or African American ,Alleles ,Amino Acid Motifs ,Base Sequence ,Chromosome Mapping ,Crossing Over ,Genetic ,Europe ,Evolution ,Molecular ,Female ,Gene Frequency ,Genetics ,Population ,Genome ,Human ,Genomics ,Haplotypes ,Histone-Lysine N-Methyltransferase ,Humans ,Male ,Molecular Sequence Data ,Pedigree ,Polymorphism ,Single Nucleotide ,Probability ,White People ,General Science & Technology - Abstract
Recombination, together with mutation, gives rise to genetic variation in populations. Here we leverage the recent mixture of people of African and European ancestry in the Americas to build a genetic map measuring the probability of crossing over at each position in the genome, based on about 2.1 million crossovers in 30,000 unrelated African Americans. At intervals of more than three megabases it is nearly identical to a map built in Europeans. At finer scales it differs significantly, and we identify about 2,500 recombination hotspots that are active in people of West African ancestry but nearly inactive in Europeans. The probability of a crossover at these hotspots is almost fully controlled by the alleles an individual carries at PRDM9 (P value
- Published
- 2011
16. Identification of a Prostate Cancer Susceptibility Locus on Chromosome 7q11-21 in Jewish Families
- Author
-
Friedrichsen, Danielle M., Stanford, Janet L., Isaacs, Sarah D., Janer, Marta, Chang, Bao-li, Deutsch, Kerry, Gillanders, Elizabeth, Kolb, Suzanne, Wiley, Katherine E., Badzioch, Michael D., Zheng, S. Lilly, Walsh, Patrick C., Jarvik, Gail P., Hood, Leroy, Trent, Jeffrey M., Isaacs, William B., Ostrander, Elaine A., and Xu, Jianfeng
- Published
- 2004
17. Somatic Deletions in Hereditary Breast Cancers Implicate 13q21 as a Putative Novel Breast Cancer Susceptibility Locus
- Author
-
Kainu, Tommi, Juo, Suh-Hang Hank, Desper, Richard, Schaffer, Alejandro A., Gillanders, Elizabeth, Rozenblum, Ester, Freas-Lutz, Diana, Weaver, Don, Stephan, Dietrich, Bailey-Wilson, Joan, Trikkonen, Mika, Syrjakoski, Kirsi, Kuukasjarvi, Tuula, Koivisto, Pasi, Karhu, Ritva, Holli, Kaija, Arason, Adalgeir, Johannesdottir, Gudrun, Bergthorsson, Jon Thor, Johannsdottir, Hrefna, Egilsson, Valgardur, Barkardottir, Rosa Bjork, Johannsson, Oskar, Haraldsson, Karin, Sandberg, Therese, Holmberg, Eva, Gronberg, Henrik, Olsson, Hakan, Borg, Ake, Vehmanen, Paula, Eerola, Hannaleena, Heikkila, Paivi, Pyrhonen, Seppo, and Nevanlinna, Heli
- Published
- 2000
18. Progressive Juvenile-Onset Punctate Cataracts Caused by Mutation of the γ D-crystallin Gene
- Author
-
Stephan, Dietrich A., Gillanders, Elizabeth, Vanderveen, Deborah, Freas-Lutz, Diana, Wistow, Graeme, Baxevanis, Andreas D., Robbins, Christiane M., VanAuken, Ann, Quesenberry, Matthew I., Bailey-Wilson, Joan, Juo, Suh-Hang Hank, Trent, Jeffrey M., Smith, Lois, and Brownstein, Michael J.
- Published
- 1999
19. Supplementary Methods and Tables from The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers
- Author
-
Amos, Christopher I., primary, Dennis, Joe, primary, Wang, Zhaoming, primary, Byun, Jinyoung, primary, Schumacher, Fredrick R., primary, Gayther, Simon A., primary, Casey, Graham, primary, Hunter, David J., primary, Sellers, Thomas A., primary, Gruber, Stephen B., primary, Dunning, Alison M., primary, Michailidou, Kyriaki, primary, Fachal, Laura, primary, Doheny, Kimberly, primary, Spurdle, Amanda B., primary, Li, Yafang, primary, Xiao, Xiangjun, primary, Romm, Jane, primary, Pugh, Elizabeth, primary, Coetzee, Gerhard A., primary, Hazelett, Dennis J., primary, Bojesen, Stig E., primary, Caga-Anan, Charlisse, primary, Haiman, Christopher A., primary, Kamal, Ahsan, primary, Luccarini, Craig, primary, Tessier, Daniel, primary, Vincent, Daniel, primary, Bacot, François, primary, Van Den Berg, David J., primary, Nelson, Stefanie, primary, Demetriades, Stephen, primary, Goldgar, David E., primary, Couch, Fergus J., primary, Forman, Judith L., primary, Giles, Graham G., primary, Conti, David V., primary, Bickeböller, Heike, primary, Risch, Angela, primary, Waldenberger, Melanie, primary, Brüske-Hohlfeld, Irene, primary, Hicks, Belynda D., primary, Ling, Hua, primary, McGuffog, Lesley, primary, Lee, Andrew, primary, Kuchenbaecker, Karoline, primary, Soucy, Penny, primary, Manz, Judith, primary, Cunningham, Julie M., primary, Butterbach, Katja, primary, Kote-Jarai, Zsofia, primary, Kraft, Peter, primary, FitzGerald, Liesel, primary, Lindström, Sara, primary, Adams, Marcia, primary, McKay, James D., primary, Phelan, Catherine M., primary, Benlloch, Sara, primary, Kelemen, Linda E., primary, Brennan, Paul, primary, Riggan, Marjorie, primary, O'Mara, Tracy A., primary, Shen, Hongbing, primary, Shi, Yongyong, primary, Thompson, Deborah J., primary, Goodman, Marc T., primary, Nielsen, Sune F., primary, Berchuck, Andrew, primary, Laboissiere, Sylvie, primary, Schmit, Stephanie L., primary, Shelford, Tameka, primary, Edlund, Christopher K., primary, Taylor, Jack A., primary, Field, John K., primary, Park, Sue K., primary, Offit, Kenneth, primary, Thomassen, Mads, primary, Schmutzler, Rita, primary, Ottini, Laura, primary, Hung, Rayjean J., primary, Marchini, Jonathan, primary, Amin Al Olama, Ali, primary, Peters, Ulrike, primary, Eeles, Rosalind A., primary, Seldin, Michael F., primary, Gillanders, Elizabeth, primary, Seminara, Daniela, primary, Antoniou, Antonis C., primary, Pharoah, Paul D.P., primary, Chenevix-Trench, Georgia, primary, Chanock, Stephen J., primary, Simard, Jacques, primary, and Easton, Douglas F., primary
- Published
- 2023
- Full Text
- View/download PDF
20. Awareness and use of genetic testing: An analysis of the Health Information National Trends Survey 2020
- Author
-
Tiner, Jessica C., primary, Mechanic, Leah E., additional, Gallicchio, Lisa, additional, Gillanders, Elizabeth M., additional, and Helzlsouer, Kathy J., additional
- Published
- 2022
- Full Text
- View/download PDF
21. Prevalence and Correlates of Receiving and Sharing High-Penetrance Cancer Genetic Test Results : Findings from the Health Information National Trends Survey
- Author
-
Taber, Jennifer M., Chang, Christine Q., Lam, Tram K., Gillanders, Elizabeth M., Hamilton, Jada G., and Schully, Sheri D.
- Published
- 2015
22. Joint effects between five identified risk variants, allergy, and autoimmune conditions on glioma risk
- Author
-
Safaeian, Mahboobeh, Rajaraman, Preetha, Hartge, Patricia, Yeager, Meredith, Linet, Martha, Butler, Mary Ann, Ruder, Avima M., Purdue, Mark P., Hsing, Ann, Beane-Freeman, Laura, Hoppin, Jane A., Albanes, Demetrius, Weinstein, Stephanie J., Inskip, Peter D., Brenner, Alina, Rothman, Nathaniel, Chatterjee, Nilanjan, Gillanders, Elizabeth M., Chanock, Stephen J., and Wang, Sophia S.
- Published
- 2013
23. Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma
- Author
-
Law, Matthew H, Bishop, D Timothy, Lee, Jeffrey E, Brossard, Myriam, Martin, Nicholas G, Moses, Eric K, Song, Fengju, Barrett, Jennifer H, Kumar, Rajiv, Easton, Douglas F, Pharoah, Paul D P, Swerdlow, Anthony J, Kypreou, Katerina P, Taylor, John C, Harland, Mark, Randerson-Moor, Juliette, Akslen, Lars A, Andresen, Per A, Avril, Marie-Françoise, Azizi, Esther, Scarrà, Giovanna Bianchi, Brown, Kevin M, Dȩbniak, Tadeusz, Duffy, David L, Elder, David E, Fang, Shenying, Friedman, Eitan, Galan, Pilar, Ghiorzo, Paola, Gillanders, Elizabeth M, Goldstein, Alisa M, Gruis, Nelleke A, Hansson, Johan, Helsing, Per, Hočevar, Marko, Höiom, Veronica, Ingvar, Christian, Kanetsky, Peter A, Chen, Wei V, Landi, Maria Teresa, Lang, Julie, Lathrop, G Mark, Lubiński, Jan, Mackie, Rona M, Mann, Graham J, Molven, Anders, Montgomery, Grant W, Novaković, Srdjan, Olsson, Håkan, Puig, Susana, Puig-Butille, Joan Anton, Qureshi, Abrar A, Radford-Smith, Graham L, van der Stoep, Nienke, van Doorn, Remco, Whiteman, David C, Craig, Jamie E, Schadendorf, Dirk, Simms, Lisa A, Burdon, Kathryn P, Nyholt, Dale R, Pooley, Karen A, Orr, Nick, Stratigos, Alexander J, Cust, Anne E, Ward, Sarah V, Hayward, Nicholas K, Han, Jiali, Schulze, Hans-Joachim, Dunning, Alison M, Bishop, Julia A Newton, Demenais, Florence, Amos, Christopher I, MacGregor, Stuart, and Iles, Mark M
- Published
- 2015
- Full Text
- View/download PDF
24. Facilitating cancer systems epidemiology research
- Author
-
Barajas, Rolando, primary, Hair, Brionna, additional, Lai, Gabriel, additional, Rotunno, Melissa, additional, Shams-White, Marissa M., additional, Gillanders, Elizabeth M., additional, and Mechanic, Leah E., additional
- Published
- 2021
- Full Text
- View/download PDF
25. The Effect on Melanoma Risk of Genes Previously Associated With Telomere Length
- Author
-
Iles, Mark M., Bishop, D. Timothy, Taylor, John C., Hayward, Nicholas K., Brossard, Myriam, Cust, Anne E., Dunning, Alison M., Lee, Jeffrey E., Moses, Eric K., Akslen, Lars A., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Scarrà, Giovanna Bianchi, Brown, Kevin M., Dębniak, Tadeusz, Elder, David E., Friedman, Eitan, Ghiorzo, Paola, Gillanders, Elizabeth M., Goldstein, Alisa M., Gruis, Nelleke A., Hansson, Johan, Harland, Mark, Helsing, Per, Hočevar, Marko, Höiom, Veronica, Ingvar, Christian, Kanetsky, Peter A., Landi, Maria Teresa, Lang, Julie, Lathrop, G. Mark, Lubiński, Jan, Mackie, Rona M., Martin, Nicholas G., Molven, Anders, Montgomery, Grant W., Novaković, Srdjan, Olsson, Håkan, Puig, Susana, Puig-Butille, Joan Anton, Radford-Smith, Graham L., Randerson-Moor, Juliette, van der Stoep, Nienke, van Doorn, Remco, Whiteman, David C., MacGregor, Stuart, Pooley, Karen A., Ward, Sarah V., Mann, Graham J., Amos, Christopher I., Pharoah, Paul D. P., Demenais, Florence, Law, Matthew H., Newton Bishop, Julia A., and Barrett, Jennifer H.
- Published
- 2014
- Full Text
- View/download PDF
26. Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions
- Author
-
Barrett, Jennifer H., Taylor, John C., Bright, Chloe, Harland, Mark, Dunning, Alison M., Akslen, Lars A., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Bianchi Scarrà, Giovanna, Brossard, Myriam, Brown, Kevin M., Dębniak, Tadeusz, Elder, David E., Friedman, Eitan, Ghiorzo, Paola, Gillanders, Elizabeth M., Gruis, Nelleke A., Hansson, Johan, Helsing, Per, Hočevar, Marko, Höiom, Veronica, Ingvar, Christian, Landi, Maria Teresa, Lang, Julie, Lathrop, Mark G., Lubiński, Jan, Mackie, Rona M., Molven, Anders, Novaković, Srdjan, Olsson, Håkan, Puig, Susana, Puig-Butille, Joan Anton, van der Stoep, Nienke, van Doorn, Remco, van Workum, Wilbert, Goldstein, Alisa M., Kanetsky, Peter A., Pharoah, Paul D. P., Demenais, Florence, Hayward, Nicholas K., Newton Bishop, Julia A., Bishop, Timothy D., and Iles, Mark M.
- Published
- 2015
- Full Text
- View/download PDF
27. Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33
- Author
-
Wang, Zhaoming, Zhu, Bin, Zhang, Mingfeng, Parikh, Hemang, Jia, Jinping, Chung, Charles C., Sampson, Joshua N., Hoskins, Jason W., Hutchinson, Amy, Burdette, Laurie, Ibrahim, Abdisamad, Hautman, Christopher, Raj, Preethi S., Abnet, Christian C., Adjei, Andrew A., Ahlbom, Anders, Albanes, Demetrius, Allen, Naomi E., Ambrosone, Christine B., Aldrich, Melinda, Amiano, Pilar, Amos, Christopher, Andersson, Ulrika, Andriole, Gerald, Jr, Andrulis, Irene L., Arici, Cecilia, Arslan, Alan A., Austin, Melissa A., Baris, Dalsu, Barkauskas, Donald A., Bassig, Bryan A., Beane Freeman, Laura E., Berg, Christine D., Berndt, Sonja I., Bertazzi, Pier Alberto, Biritwum, Richard B., Black, Amanda, Blot, William, Boeing, Heiner, Boffetta, Paolo, Bolton, Kelly, Boutron-Ruault, Marie-Christine, Bracci, Paige M., Brennan, Paul, Brinton, Louise A., Brotzman, Michelle, Bueno-de-Mesquita, H. Bas, Buring, Julie E., Butler, Mary Ann, Cai, Qiuyin, Cancel-Tassin, Geraldine, Canzian, Federico, Cao, Guangwen, Caporaso, Neil E., Carrato, Alfredo, Carreon, Tania, Carta, Angela, Chang, Gee-Chen, Chang, I-Shou, Chang-Claude, Jenny, Che, Xu, Chen, Chien-Jen, Chen, Chih-Yi, Chen, Chung-Hsing, Chen, Constance, Chen, Kuan-Yu, Chen, Yuh-Min, Chokkalingam, Anand P., Chu, Lisa W., Clavel-Chapelon, Francoise, Colditz, Graham A., Colt, Joanne S., Conti, David, Cook, Michael B., Cortessis, Victoria K., Crawford, E. David, Cussenot, Olivier, Davis, Faith G., De Vivo, Immaculata, Deng, Xiang, Ding, Ti, Dinney, Colin P., Di Stefano, Anna Luisa, Diver, W. Ryan, Duell, Eric J., Elena, Joanne W., Fan, Jin-Hu, Feigelson, Heather Spencer, Feychting, Maria, Figueroa, Jonine D., Flanagan, Adrienne M., Fraumeni, Joseph F., Jr, Freedman, Neal D., Fridley, Brooke L., Fuchs, Charles S., Gago-Dominguez, Manuela, Gallinger, Steven, Gao, Yu-Tang, Gapstur, Susan M., Garcia-Closas, Montserrat, Garcia-Closas, Reina, Gastier-Foster, Julie M., Gaziano, J. Michael, Gerhard, Daniela S., Giffen, Carol A., Giles, Graham G., Gillanders, Elizabeth M., Giovannucci, Edward L., Goggins, Michael, Gokgoz, Nalan, Goldstein, Alisa M., Gonzalez, Carlos, Gorlick, Richard, Greene, Mark H., Gross, Myron, Grossman, H. Barton, Grubb, Robert, III, Gu, Jian, Guan, Peng, Haiman, Christopher A., Hallmans, Goran, Hankinson, Susan E., Harris, Curtis C., Hartge, Patricia, Hattinger, Claudia, Hayes, Richard B., He, Qincheng, Helman, Lee, Henderson, Brian E., Henriksson, Roger, Hoffman-Bolton, Judith, Hohensee, Chancellor, Holly, Elizabeth A., Hong, Yun-Chul, Hoover, Robert N., Hosgood, H. Dean, III, Hsiao, Chin-Fu, Hsing, Ann W., Hsiung, Chao Agnes, Hu, Nan, Hu, Wei, Hu, Zhibin, Huang, Ming-Shyan, Hunter, David J., Inskip, Peter D., Ito, Hidemi, Jacobs, Eric J., Jacobs, Kevin B., Jenab, Mazda, Ji, Bu-Tian, Johansen, Christoffer, Johansson, Mattias, Johnson, Alison, Kaaks, Rudolf, Kamat, Ashish M., Kamineni, Aruna, Karagas, Margaret, Khanna, Chand, Khaw, Kay-Tee, Kim, Christopher, Kim, In-Sam, Kim, Jin Hee, Kim, Yeul Hong, Kim, Young-Chul, Kim, Young Tae, Kang, Chang Hyun, Jung, Yoo Jin, Kitahara, Cari M., Klein, Alison P., Klein, Robert, Kogevinas, Manolis, Koh, Woon-Puay, Kohno, Takashi, Kolonel, Laurence N., Kooperberg, Charles, Kratz, Christian P., Krogh, Vittorio, Kunitoh, Hideo, Kurtz, Robert C., Kurucu, Nilgun, Lan, Qing, Lathrop, Mark, Lau, Ching C., Lecanda, Fernando, Lee, Kyoung-Mu, Lee, Maxwell P., Le Marchand, Loic, Lerner, Seth P., Li, Donghui, Liao, Linda M., Lim, Wei-Yen, Lin, Dongxin, Lin, Jie, Lindstrom, Sara, Linet, Martha S., Lissowska, Jolanta, Liu, Jianjun, Ljungberg, Börje, Lloreta, Josep, Lu, Daru, Ma, Jing, Malats, Nuria, Mannisto, Satu, Marina, Neyssa, Mastrangelo, Giuseppe, Matsuo, Keitaro, McGlynn, Katherine A., McKean-Cowdin, Roberta, McNeill, Lorna H., McWilliams, Robert R., Melin, Beatrice S., Meltzer, Paul S., Mensah, James E., Miao, Xiaoping, Michaud, Dominique S., Mondul, Alison M., Moore, Lee E., Muir, Kenneth, Niwa, Shelley, Olson, Sara H., Orr, Nick, Panico, Salvatore, Park, Jae Yong, Patel, Alpa V., Patino-Garcia, Ana, Pavanello, Sofia, Peeters, Petra H. M., Peplonska, Beata, Peters, Ulrike, Petersen, Gloria M., Picci, Piero, Pike, Malcolm C., Porru, Stefano, Prescott, Jennifer, Pu, Xia, Purdue, Mark P., Qiao, You-Lin, Rajaraman, Preetha, Riboli, Elio, Risch, Harvey A., Rodabough, Rebecca J., Rothman, Nathaniel, Ruder, Avima M., Ryu, Jeong-Seon, Sanson, Marc, Schned, Alan, Schumacher, Fredrick R., Schwartz, Ann G., Schwartz, Kendra L., Schwenn, Molly, Scotlandi, Katia, Seow, Adeline, Serra, Consol, Serra, Massimo, Sesso, Howard D., Severi, Gianluca, Shen, Hongbing, Shen, Min, Shete, Sanjay, Shiraishi, Kouya, Shu, Xiao-Ou, Siddiq, Afshan, Sierrasesumaga, Luis, Sierri, Sabina, Loon Sihoe, Alan Dart, Silverman, Debra T., Simon, Matthias, Southey, Melissa C., Spector, Logan, Spitz, Margaret, Stampfer, Meir, Stattin, Par, Stern, Mariana C., Stevens, Victoria L., Stolzenberg-Solomon, Rachael Z., Stram, Daniel O., Strom, Sara S., Su, Wu-Chou, Sund, Malin, Sung, Sook Whan, Swerdlow, Anthony, Tan, Wen, Tanaka, Hideo, Tang, Wei, Tang, Ze-Zhang, Tardon, Adonina, Tay, Evelyn, Taylor, Philip R., Tettey, Yao, Thomas, David M., Tirabosco, Roberto, Tjonneland, Anne, Tobias, Geoffrey S., Toro, Jorge R., Travis, Ruth C., Trichopoulos, Dimitrios, Troisi, Rebecca, Truelove, Ann, Tsai, Ying-Huang, Tucker, Margaret A., Tumino, Rosario, Van Den Berg, David, Van Den Eeden, Stephen K., Vermeulen, Roel, Vineis, Paolo, Visvanathan, Kala, Vogel, Ulla, Wang, Chaoyu, Wang, Chengfeng, Wang, Junwen, Wang, Sophia S., Weiderpass, Elisabete, Weinstein, Stephanie J., Wentzensen, Nicolas, Wheeler, William, White, Emily, Wiencke, John K., Wolk, Alicja, Wolpin, Brian M., Wong, Maria Pik, Wrensch, Margaret, Wu, Chen, Wu, Tangchun, Wu, Xifeng, Wu, Yi-Long, Wunder, Jay S., Xiang, Yong-Bing, Xu, Jun, Yang, Hannah P., Yang, Pan-Chyr, Yatabe, Yasushi, Ye, Yuanqing, Yeboah, Edward D., Yin, Zhihua, Ying, Chen, Yu, Chong-Jen, Yu, Kai, Yuan, Jian-Min, Zanetti, Krista A., Zeleniuch-Jacquotte, Anne, Zheng, Wei, Zhou, Baosen, Mirabello, Lisa, Savage, Sharon A., Kraft, Peter, Chanock, Stephen J., Yeager, Meredith, Landi, Maria Terese, Shi, Jianxin, Chatterjee, Nilanjan, and Amundadottir, Laufey T.
- Published
- 2014
- Full Text
- View/download PDF
28. Approaches to integrating germline and tumor genomic data in cancer research
- Author
-
Feigelson, Heather Spencer, Goddard, Katrina A.B., Hollombe, Celine, Tingle, Sharna R., Gillanders, Elizabeth M., Mechanic, Leah E., and Nelson, Stefanie A.
- Published
- 2014
- Full Text
- View/download PDF
29. Systems epidemiology and cancer: A review of the National Institutes of Health extramural grant portfolio 2013–2018
- Author
-
Shams-White, Marissa M., primary, Barajas, Rolando, additional, Jensen, Roxanne E., additional, Rotunno, Melissa, additional, Dueck, Hannah, additional, Ginexi, Elizabeth M., additional, Rogers, Scott D., additional, Gillanders, Elizabeth M., additional, and Mechanic, Leah E., additional
- Published
- 2021
- Full Text
- View/download PDF
30. Epidemiologic Research of Rare Cancers: Trends, Resources, and Challenges
- Author
-
Gallicchio, Lisa, primary, Daee, Danielle L., additional, Rotunno, Melissa, additional, Barajas, Rolando, additional, Fagan, Sarah, additional, Carrick, Danielle M., additional, Divi, Rao L., additional, Filipski, Kelly K., additional, Freedman, Andrew N., additional, Gillanders, Elizabeth M., additional, Lam, Tram K., additional, Martin, Damali N., additional, Rogers, Scott, additional, Verma, Mukesh, additional, and Nelson, Stefanie A., additional
- Published
- 2021
- Full Text
- View/download PDF
31. Fine-mapping the putative chromosome 17q21–22 prostate cancer susceptibility gene to a 10 cM region based on linkage analysis
- Author
-
Lange, Ethan M., Robbins, Christiane M., Gillanders, Elizabeth M., Zheng, Siqun Lilly, Xu, Jianfeng, Wang, Yunfei, White, Kirsten A., Chang, Bao-Li, Ho, Lindsey A., Trent, Jeffrey M., Carpten, John D., Isaacs, William B., and Cooney, Kathleen A.
- Published
- 2007
- Full Text
- View/download PDF
32. Genome-wide linkage scan for prostate cancer susceptibility genes in men with aggressive disease: significant evidence for linkage at chromosome 15q12
- Author
-
Lange, Ethan M., Ho, Lindsey A., Beebe-Dimmer, Jennifer L., Wang, Yunfei, Gillanders, Elizabeth M., Trent, Jeffrey M., Lange, Leslie A., Wood, David P., and Cooney, Kathleen A.
- Published
- 2006
- Full Text
- View/download PDF
33. Two-locus genome-wide linkage scan for prostate cancer susceptibility genes with an interaction effect
- Author
-
Chang, Bao-Li, Lange, Ethan M., Dimitrov, Latchezar, Valis, Christopher J., Gillanders, Elizabeth M., Lange, Leslie A., Wiley, Kathleen E., Isaacs, Sarah D., Wiklund, Fredrik, Baffoe-Bonnie, Agnes, Langefeld, Carl D, Zheng, S. Lilly, Matikainen, Mika P., Ikonen, Tarja, Fredriksson, Henna, Tammela, Teuvo, Walsh, Patrick C., Bailey-Wilson, Joan E., Schleutker, Johanna, Gronberg, Henrik, Cooney, Kathleen A., Isaacs, William B., Suh, Edward, Trent, Jeffrey M., and Xu, Jianfeng
- Published
- 2006
- Full Text
- View/download PDF
34. A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in the HPCX region
- Author
-
Baffoe-Bonnie, Agnes B., Smith, Jeffrey R., Stephan, Dietrich A., Schleutker, Johanna, Carpten, John D., Kainu, Tommi, Gillanders, Elizabeth M., Matikainen, Mika, Teslovich, Tanya M., Tammela, Teuvo, Sood, Raman, Balshem, Andrew M., Scarborough, Sheehan D., Xu, Jianfeng, Isaacs, William B., Trent, Jeffrey M., Kallioniemi, Olli-P., and Bailey-Wilson, Joan E.
- Published
- 2005
- Full Text
- View/download PDF
35. Hereditary prostate cancer in Finland: fine-mapping validates 3p26 as a major predisposition locus
- Author
-
Rökman, Annika, Baffoe-Bonnie, Agnes B., Gillanders, Elizabeth, Fredriksson, Henna, Autio, Ville, Ikonen, Tarja, Gibbs, Jr, Kenneth D., Jones, MaryPat, Gildea, Derek, Freas-Lutz, Diane, Markey, Carol, Matikainen, Mika P., Koivisto, Pasi A., Tammela, Teuvo L. J., Kallioniemi, Olli P., Trent, Jeffrey, Bailey-Wilson, Joan E., and Schleutker, Johanna
- Published
- 2005
- Full Text
- View/download PDF
36. Interaction effect of PTEN and CDKN1B chromosomal regions on prostate cancer linkage
- Author
-
Xu, Jianfeng, Langefeld, Carl D., Zheng, S. Lilly, Gillanders, Elizabeth M., Chang, Bao-li, Isaacs, Sarah D., Williams, Adrienne H., Wiley, Kathy E., Dimitrov, Latchezar, Meyers, Deborah A., Walsh, Patrick C., Trent, Jeffrey M., and Isaacs, William B.
- Published
- 2004
- Full Text
- View/download PDF
37. Known glioma risk loci are associated with glioma with a family history of brain tumours—A case–control gene association study
- Author
-
Melin, Beatrice, Dahlin, Anna M., Andersson, Ulrika, Wang, Zhaoming, Henriksson, Roger, Hallmans, Göran, Bondy, Melissa L., Johansen, Christoffer, Feychting, Maria, Ahlbom, Anders, Kitahara, Cari M., Wang, Sophia S., Ruder, Avima M., Carreón, Tania, Butler, Mary Ann, Inskip, Peter D., Purdue, Mark, Hsing, Ann W., Mechanic, Leah, Gillanders, Elizabeth, Yeager, Meredith, Linet, Martha, Chanock, Stephen J., Hartge, Patricia, and Rajaraman, Preetha
- Published
- 2013
- Full Text
- View/download PDF
38. Genetic Simulation Resources: a website for the registration and discovery of genetic data simulators
- Author
-
Peng, Bo, Chen, Huann-Sheng, Mechanic, Leah E., Racine, Ben, Clarke, John, Clarke, Lauren, Gillanders, Elizabeth, and Feuer, Eric J.
- Published
- 2013
- Full Text
- View/download PDF
39. Localization of a novel melanoma susceptibility locus to 1p22
- Author
-
Gillanders, Elizabeth, Juo, Suh-Hang Hank, Holland, Elizabeth A., Jones, MaryPat, Nancarrow, Derek, Freas-Lutz, Diana, Sood, Raman, Park, Naeun, Faruque, Mezbah, Markey, Carol, Kefford, Richard F., Palmer, Jane, Bergman, Wilma, Bishop, D. Timothy, Tucker, Margaret A., Bressac-de Paillerets, Brigitte, Hansson, Johan, Stark, Mitchell, Gruis, Nelleke, Bishop, Julia Newton, Goldstein, Alisa M., Bailey-Wilson, Joan E., Mann, Graham J., Hayward, Nicholas, and Trent, Jeffrey
- Subjects
Melanoma -- Research ,Biological sciences - Published
- 2003
40. Analysis of HPC1, HPCX, and PCaP in Icelandic hereditary prostate cancer
- Author
-
Bergthorsson, Jon, Johannesdottir, Gudrun, Arason, Adalgeir, Benediktsdottir, Kristrun, Agnarsson, Bjarni, Bailey-Wilson, Joan, Gillanders, Elizabeth, Smith, Jeffrey, Trent, Jeff, and Barkardottir, Rosa
- Published
- 2000
- Full Text
- View/download PDF
41. Genetic architecture of cancer and other complex diseases: lessons learned and future directions
- Author
-
Hindorff, Lucia A., Gillanders, Elizabeth M., and Manolio, Teri A.
- Published
- 2011
- Full Text
- View/download PDF
42. Abstract 224: Evaluation of next generation sequencing of DNA and RNA from archival formalin-fixed, paraffin-embedded pancreatic cancer tissue: A pilot study of the SEER-linked virtual tissue repository
- Author
-
Yuan, Yao, primary, Van Dyke, Alison, additional, Petkov, Valentina, additional, Tuan, Alyssa, additional, Singhi, Aatur, additional, Matrisian, Lynn, additional, Rahib, Lola, additional, Pearson, John, additional, Nones, Katia, additional, Waddell, Nicola, additional, Zhao, Yongmei, additional, Shen, Tsai-wei, additional, Tran, Bao, additional, Shetty, Jyoti, additional, Gillanders, Elizabeth, additional, Carrick, Danielle, additional, Cress, Rosemary, additional, Mueller, Lloyd, additional, Hernandez, Brenda, additional, Lynch, Charles, additional, Tucker, Thomas, additional, Wu, Xiao-Cheng, additional, and Penberthy, Lynne, additional
- Published
- 2020
- Full Text
- View/download PDF
43. A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer
- Author
-
Rotunno, Melissa, primary, Barajas, Rolando, additional, Clyne, Mindy, additional, Hoover, Elise, additional, Simonds, Naoko I., additional, Lam, Tram Kim, additional, Mechanic, Leah E., additional, Goldstein, Alisa M., additional, and Gillanders, Elizabeth M., additional
- Published
- 2020
- Full Text
- View/download PDF
44. Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene
- Author
-
Stephan, Dietrich A., Gillanders, Elizabeth, Vanderveen, Deborah, Freas-Lutz, Diana, Wistow, Graeme, Baxevanis, Andreas D., Robbins, Christiane M., VanAuken, Ann, Quesenberry, Matthew I., Bailey-Wilson, Joan, Juo, Suh-Hang Hank, Trent, Jeffrey M., Smith, Lois, and Brownstein, Michael J.
- Subjects
Eye diseases -- Genetic aspects ,Cataract -- Genetic aspects ,Gene mutations -- Research ,Science and technology - Abstract
A three-generation family with hereditary progressive cataracts transmitted as an autosomal dominant trait is identified. A genome-wide search for linkage was performed to find the locus of the family trait. The evidence for linkage was obtained at 2q33-q35 where the gamma-crystallin genes are located. A mutation in the gammaD-crystallin gene was discovered which was identified as Arg- 14->Cys (R14C). The mutation has a great effect on the surface of gammmaD.
- Published
- 1999
45. Publisher Correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways
- Author
-
Duffy, David L., Zhu, Gu, Li, Xin, Sanna, Marianna, Jacobs, Leonie C., Evans, David M., Yazar, Seyhan, Beesley, Jonathan, Lawrence, Matthew H., Kraft, Peter, Visconti, Alessia, Taylor, John C., Lui, Fan, Wright, Margaret J., Henders, Anjali K., Bowdler, Lisa, Glass, Dan, Ikram, Arfan M., Uitterlinden, André G., Madden, Pamela A., Heath, Andrew C., Nelson, Elliot C., Green, Adele C., Chanock, Stephen, Barrett, Jennifer H., Brown, Matthew A., Hayward, Nicholas K., MacGregor, Stuart, Sturm, Richard A., Hewitt, Alex W., Leenhardt, Jeffrey E., Brossard, Myriam, Moses, Eric K., Song, Fengju, Kumar, Rajiv, Easton, Douglas F., Pharoah, Paul D. P., Swerdlow, Anthony J., Kypreou, Katerina P., Harland, Mark, Randerson-Moor, Juliette, Akslen, Lars A., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Scarrà, Giovanna Bianchi, Brown, Kevin M., Dębniak, Tadeusz, Elder, David E., Fang, Shenying, Friedman, Eitan, Galan, Pilar, Ghiorzo, Paola, Gillanders, Elizabeth M., Goldstein, Alisa M., Gruis, Nelleke A., Hansson, Johan, Helsing, Per, Hočevar, Marko, Höiom, Veronica, Ingvar, Christian, Kanetsky, Peter A., Chen, Wei V., Landi, Maria Teresa, Lang, Julie, Lathrop, G. Mark, Lubiński, Jan, Mackie, Rona M., Mann, Graham J., Molven, Anders, Novaković, Srdjan, Olsson, Håkan, Puig, Susana, Puig-Butille, Joan Anton, Radford-Smith, Graham L., van Doorn, Remco, Whiteman, David C., Craig, Jamie E., Schadendorf, Dirk, Simms, Lisa A., Burdon, Kathryn P., Nyholt, Dale R., Pooley, Karen A., Orr, Nicholas, Stratigos, Alexander J., Cust, Anne E., Ward, Sarah V., Schulze, Hans-Joachim, Dunning, Alison M., Demenais, Florence, Amos, Christopher I., Kayser, Manfred, Hunter, David J., Newton Bishop, Julia A., Spector, Timothy D., Montgomery, Grant W., Mackey, David A., Smith, George Davey, Nijsten, Tamar E., Bishop, D. Timothy, Bataille, Veronique, Falchi, Mario, Han, Jiali, and Martin, Nicholas G.
- Subjects
0301 basic medicine ,Skin Neoplasms ,Medizin ,General Physics and Astronomy ,02 engineering and technology ,Receptors, G-Protein-Coupled ,Guanine Nucleotide Exchange Factors ,skin and connective tissue diseases ,lcsh:Science ,Melanoma ,Telomerase ,Nevus, Pigmented ,Stem Cell Factor ,Multidisciplinary ,Microfilament Proteins ,Nuclear Proteins ,RNA-Binding Proteins ,Genetic Pleiotropy ,021001 nanoscience & nanotechnology ,Publisher Correction ,Spelling ,Cytochrome P-450 CYP1B1 ,Interferon Regulatory Factors ,0210 nano-technology ,Science ,Telomere-Binding Proteins ,Nerve Tissue Proteins ,Computational biology ,Biology ,Polymorphism, Single Nucleotide ,General Biochemistry, Genetics and Molecular Biology ,Article ,Histone Deacetylases ,White People ,Group VI Phospholipases A2 ,03 medical and health sciences ,medicine ,Nevus ,Humans ,Genetic Predisposition to Disease ,General Chemistry ,medicine.disease ,Repressor Proteins ,MicroRNAs ,030104 developmental biology ,RNA ,lcsh:Q ,Carrier Proteins ,Genome-Wide Association Study - Abstract
The total number of acquired melanocytic nevi on the skin is strongly correlated with melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from Australia, Netherlands, UK, and USA comprising 52,506 individuals. We confirm known loci including MTAP, PLA2G6, and IRF4, and detect novel SNPs in KITLG and a region of 9q32. In a bivariate analysis combining the nevus results with a recent melanoma GWAS meta-analysis (12,874 cases, 23,203 controls), SNPs near GPRC5A, CYP1B1, PPARGC1B, HDAC4, FAM208B, DOCK8, and SYNE2 reached global significance, and other loci, including MIR146A and OBFC1, reached a suggestive level. Overall, we conclude that most nevus genes affect melanoma risk (KITLG an exception), while many melanoma risk loci do not alter nevus count. For example, variants in TERC and OBFC1 affect both traits, but other telomere length maintenance genes seem to affect melanoma risk only. Our findings implicate multiple pathways in nevogenesis., Melanocytic nevus count is associated with melanoma risk. In this study, a meta-analysis of 11 nevus GWAS studies identifies novel SNPs in KITLG and 9q32, and bivariate analysis with melanoma GWAS meta-analysis reveals that most nevus genes affect melanoma risk, while melanoma risk loci do not alter the nevus count.
- Published
- 2019
46. Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways (vol 9, 4774, 2018)
- Author
-
Duffy, David L. Zhu, Gu Li, Xin Sanna, Marianna Iles, Mark M. Jacobs, Leonie C. Evans, David M. Yazar, Seyhan and Beesley, Jonathan Law, Matthew H. Kraft, Peter Visconti, Alessia Taylor, John C. Liu, Fan Wright, Margaret J. and Henders, Anjali K. Bowdler, Lisa Glass, Dan Ikram, M. Arfan and Uitterlinden, Andre G. Madden, Pamela A. Heath, Andrew C. and Nelson, Elliot C. Green, Adele C. Chanock, Stephen and Barrett, Jennifer H. Brown, Matthew A. Hayward, Nicholas K. and MacGregor, Stuart Sturm, Richard A. Hewitt, Alex W. Kayser, Manfred Hunter, David J. Bishop, Julia A. Newton Spector, Timothy D. Montgomery, Grant W. Mackey, David A. Smith, George Davey Nijsten, Tamar E. Bishop, D. Timothy Bataille, Veronique Falchi, Mario Han, Jiali Martin, Nicholas G. and Lee, Jeffrey E. Brossard, Myriam Moses, Eric K. Song, Fengju and Kumar, Rajiv Easton, Douglas F. Pharoah, Paul D. P. and Swerdlow, Anthony J. Kypreou, Katerina P. Harland, Mark and Randerson-Moor, Juliette Akslen, Lars A. Andresen, Per A. and Avril, Marie-Francoise Azizi, Esther Scarra, Giovanna Bianchi and Brown, Kevin M. Debniak, Tadeusz Elder, David E. Fang, Shenying Friedman, Eitan Galan, Pilar Ghiorzo, Paola and Gillanders, Elizabeth M. Goldstein, Alisa M. Gruis, Nelleke A. and Hansson, Johan Helsing, Per Hocevar, Marko Hoiom, Veronica Ingvar, Christian Kanetsky, Peter A. Chen, Wei V. and Landi, Maria Teresa Lang, Julie Lathrop, G. Mark and Lubinski, Jan Mackie, Rona M. Mann, Graham J. Molven, Anders and Novakovic, Srdjan Olsson, Hakan Puig, Susana and Puig-Butille, Joan Anton Radford-Smith, Graham L. van der Stoep, Nienke van Doorn, Remco Whiteman, David C. Craig, Jamie E. and Schadendorf, Dirk Simms, Lisa A. Burdon, Kathryn P. and Nyholt, Dale R. Pooley, Karen A. Orr, Nicholas Stratigos, Alexander J. Cust, Anne E. Ward, Sarah V. Schulze, Hans-Joachim Dunning, Alison M. Demenais, Florence Amos, Christopher I. Melanoma GWAS Consortium
- Published
- 2019
47. Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents
- Author
-
Goldstein, Alisa M, Chan, May, Harland, Mark, Hayward, Nicholas K, Demenais, Florence, Bishop, D Timothy, Azizi, Esther, Bergman, Wilma, Bianchi-Scarra, Giovanna, Bruno, William, Calista, Donato, Albright, Lisa A Cannon, Chaudru, Valerie, Chompret, Agnes, Cuellar, Francisco, Elder, David E, Ghiorzo, Paola, Gillanders, Elizabeth M, Gruis, Nelleke A, Hansson, Johan, Hogg, David, Holland, Elizabeth A, Kanetsky, Peter A, Kefford, Richard F, Landi, Maria Teresa, Lang, Julie, Leachman, Sancy A, MacKie, Rona M, Magnusson, Veronica, Mann, Graham J, Bishop, Julia Teresa, Palmer, Jane M, Puig, Susana, Puig-Butille, Joan A, Stark, Mitchell, Tsao, Hensin, Tucker, Margaret A, Whitaker, Linda, and Yakobson, Emanuel
- Published
- 2007
48. Genome-Wide Linkage of 77 Families From the African American Hereditary Prostate Cancer Study (AAHPC)
- Author
-
Baffoe-Bonnie, Agnes B., Kittles, Rick A., Gillanders, Elizabeth, Ou, Liang, George, Asha, Robbins, Christiane, Ahaghotu, Chiledum, Bennett, James, Boykin, William, Hoke, Gerald, Mason, Terry, Pettaway, Curtis, Vijayakumar, Srinivasan, Weinrich, Sally, Jones, Mary P., Gildea, Derek, Riedesel, Erica, Albertus, Julie, Moses, Tracy, Lockwood, Erica, Klaric, Meghan, Faruque, Mezbah, Royal, Charmaine, Trent, Jeffrey M., Berg, Kate, Collins, Francis S., Furbert-Harris, Paulette M., Bailey-Wilson, Joan E., Dunston, Georgia M., Powell, Isaac, and Carpten, John D.
- Published
- 2007
- Full Text
- View/download PDF
49. Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13
- Author
-
Tranebjaerg, Lisbeth, Teslovich, Tanya M., Jones, MaryPat, Barmada, M. Michael, Fagerheim, Toril, Dahl, Arve, Escolar, Diana M., Trent, Jeffrey M., Gillanders, Elizabeth M., and Stephan, Dietrich A.
- Published
- 2003
- Full Text
- View/download PDF
50. Genome-Wide Screen for Prostate Cancer Susceptibility Genes in Men With Clinically Significant Disease
- Author
-
Chang, Bao-Li, Isaacs, Sarah D., Wiley, Kathy E., Gillanders, Elizabeth M., Zheng, Lilly S., Meyers, Deborah A., Walsh, Patrick C., Trent, Jeffrey M., Xu, Jianfeng, and Isaacs, William B.
- Published
- 2005
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.