JOHANSSON, Mattias, Angus ROBERTS, Dan CHEN, Yaoyong LI, Manon DELAHAYE-SOURDEIX, Niraj ASWANI, Mark A. GREENWOOD, Simone BENHAMOU, Pagona LAGIOU, Ivana HOLCATOVA, Lorenzo RICHIARDI, Kristina KJAERHEIM, Antonio AGUDO, Xavier CASTELLSAGUE, Tatiana V. MACFARLANE, Luigi BARZAN, Cristina CANOVA, Nalin S. THAKKER, David I. CONWAY, Ariana ZNAOR, Claire M. HEALY, Wolfgang AHRENS, David ZARIDZE, Neonilia SZESZENIA-DABROWSKA, Jolanta LISSOWSKA, Eleonora FABIANOVÁ, Ioan Nicolae MATES, Vladimír BENCKO, Lenka FORETOVÁ, Vladimír JANOUT, Maria Paula CURADO, Sergio KOIFMAN, Ana MENEZES, Victor WUENSCH-FILHO, Jose ELUF-NETO, Paolo BOFFETTA, Silvia FRANCESCHI, Rolando HERRERO, Leticia FERNANDEZ GARROTE, Renato TALAMINI, Stefania BOCCIA, Pilar GALAN, Lars VATTEN, Peter THOMSON, Diana ZELENIKA, Mark LATHROP, Graham BYRNES, Hamish CUNNINGHAM, Paul BRENNAN, Jon WAKEFIELD a James D MCKAY. Using Prior Information from the Medical Literature in GWAS of Oral Cancer Identifies Novel Susceptibility Variant on Chromosome 4-the AdAPT Method. Plos One. SAN FRANCISCO: PUBLIC LIBRARY SCIENCE, 2012, roč. 7, č. 5, s. "neuvedeno", 10 s. ISSN 1932-6203. Dostupné z: https://dx.doi.org/10.1371/journal.pone.0036888. |
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@article{1089623, author = {Johansson, Mattias and Roberts, Angus and Chen, Dan and Li, Yaoyong and DelahayeandSourdeix, Manon and Aswani, Niraj and Greenwood, Mark A. and Benhamou, Simone and Lagiou, Pagona and Holcatova, Ivana and Richiardi, Lorenzo and Kjaerheim, Kristina and Agudo, Antonio and Castellsague, Xavier and Macfarlane, Tatiana V. and Barzan, Luigi and Canova, Cristina and Thakker, Nalin S. and Conway, David I. and Znaor, Ariana and Healy, Claire M. and Ahrens, Wolfgang and Zaridze, David and SzeszeniaandDabrowska, Neonilia and Lissowska, Jolanta and Fabianová, Eleonora and Mates, Ioan Nicolae and Bencko, Vladimír and Foretová, Lenka and Janout, Vladimír and Curado, Maria Paula and Koifman, Sergio and Menezes, Ana and WuenschandFilho, Victor and ElufandNeto, Jose and Boffetta, Paolo and Franceschi, Silvia and Herrero, Rolando and Fernandez Garrote, Leticia and Talamini, Renato and Boccia, Stefania and Galan, Pilar and Vatten, Lars and Thomson, Peter and Zelenika, Diana and Lathrop, Mark and Byrnes, Graham and Cunningham, Hamish and Brennan, Paul and Wakefield, Jon and Mckay, James D}, article_location = {SAN FRANCISCO}, article_number = {5}, doi = {http://dx.doi.org/10.1371/journal.pone.0036888}, keywords = {GENOME-WIDE ASSOCIATION; LUNG-CANCER; POOLED ANALYSIS; 15Q25; LOCUS; DISEASES; EUROPE; GENES; RISK}, language = {eng}, issn = {1932-6203}, journal = {Plos One}, title = {Using Prior Information from the Medical Literature in GWAS of Oral Cancer Identifies Novel Susceptibility Variant on Chromosome 4-the AdAPT Method}, volume = {7}, year = {2012} }
TY - JOUR ID - 1089623 AU - Johansson, Mattias - Roberts, Angus - Chen, Dan - Li, Yaoyong - Delahaye-Sourdeix, Manon - Aswani, Niraj - Greenwood, Mark A. - Benhamou, Simone - Lagiou, Pagona - Holcatova, Ivana - Richiardi, Lorenzo - Kjaerheim, Kristina - Agudo, Antonio - Castellsague, Xavier - Macfarlane, Tatiana V. - Barzan, Luigi - Canova, Cristina - Thakker, Nalin S. - Conway, David I. - Znaor, Ariana - Healy, Claire M. - Ahrens, Wolfgang - Zaridze, David - Szeszenia-Dabrowska, Neonilia - Lissowska, Jolanta - Fabianová, Eleonora - Mates, Ioan Nicolae - Bencko, Vladimír - Foretová, Lenka - Janout, Vladimír - Curado, Maria Paula - Koifman, Sergio - Menezes, Ana - Wuensch-Filho, Victor - Eluf-Neto, Jose - Boffetta, Paolo - Franceschi, Silvia - Herrero, Rolando - Fernandez Garrote, Leticia - Talamini, Renato - Boccia, Stefania - Galan, Pilar - Vatten, Lars - Thomson, Peter - Zelenika, Diana - Lathrop, Mark - Byrnes, Graham - Cunningham, Hamish - Brennan, Paul - Wakefield, Jon - Mckay, James D PY - 2012 TI - Using Prior Information from the Medical Literature in GWAS of Oral Cancer Identifies Novel Susceptibility Variant on Chromosome 4-the AdAPT Method JF - Plos One VL - 7 IS - 5 SP - "neuvedeno" EP - "neuvedeno" PB - PUBLIC LIBRARY SCIENCE SN - 19326203 KW - GENOME-WIDE ASSOCIATION KW - LUNG-CANCER KW - POOLED ANALYSIS KW - 15Q25 KW - LOCUS KW - DISEASES KW - EUROPE KW - GENES KW - RISK N2 - Background: Genome-wide association studies (GWAS) require large sample sizes to obtain adequate statistical power, but it may be possible to increase the power by incorporating complementary data. In this study we investigated the feasibility of automatically retrieving information from the medical literature and leveraging this information in GWAS. Methods: We developed a method that searches through PubMed abstracts for pre-assigned keywords and key concepts, and uses this information to assign prior probabilities of association for each single nucleotide polymorphism (SNP) with the phenotype of interest - the Adjusting Association Priors with Text (AdAPT) method. Association results from a GWAS can subsequently be ranked in the context of these priors using the Bayes False Discovery Probability (BFDP) framework. We initially tested AdAPT by comparing rankings of known susceptibility alleles in a previous lung cancer GWAS, and subsequently applied it in a two-phase GWAS of oral cancer. Results: Known lung cancer susceptibility SNPs were consistently ranked higher by AdAPT BFDPs than by p-values. In the oral cancer GWAS, we sought to replicate the top five SNPs as ranked by AdAPT BFDPs, of which rs991316, located in the ADH gene region of 4q23, displayed a statistically significant association with oral cancer risk in the replication phase (per-rare-allele log additive p-value [p(trend)] = 2.5 x 10(-3)). The combined OR for having one additional rare allele was 0.83 (95% CI: 0.76-0.90), and this association was independent of previously identified susceptibility SNPs that are associated with overall UADT cancer in this gene region. We also investigated if rs991316 was associated with other cancers of the upper aerodigestive tract (UADT), but no additional association signal was found. Conclusion: This study highlights the potential utility of systematically incorporating prior knowledge from the medical literature in genome-wide analyses using the AdAPT methodology. AdAPT is available online (url: http://services.gate.ac.uk/lld/gwas/service/config). ER -
JOHANSSON, Mattias, Angus ROBERTS, Dan CHEN, Yaoyong LI, Manon DELAHAYE-SOURDEIX, Niraj ASWANI, Mark A. GREENWOOD, Simone BENHAMOU, Pagona LAGIOU, Ivana HOLCATOVA, Lorenzo RICHIARDI, Kristina KJAERHEIM, Antonio AGUDO, Xavier CASTELLSAGUE, Tatiana V. MACFARLANE, Luigi BARZAN, Cristina CANOVA, Nalin S. THAKKER, David I. CONWAY, Ariana ZNAOR, Claire M. HEALY, Wolfgang AHRENS, David ZARIDZE, Neonilia SZESZENIA-DABROWSKA, Jolanta LISSOWSKA, Eleonora FABIANOVÁ, Ioan Nicolae MATES, Vladimír BENCKO, Lenka FORETOVÁ, Vladimír JANOUT, Maria Paula CURADO, Sergio KOIFMAN, Ana MENEZES, Victor WUENSCH-FILHO, Jose ELUF-NETO, Paolo BOFFETTA, Silvia FRANCESCHI, Rolando HERRERO, Leticia FERNANDEZ GARROTE, Renato TALAMINI, Stefania BOCCIA, Pilar GALAN, Lars VATTEN, Peter THOMSON, Diana ZELENIKA, Mark LATHROP, Graham BYRNES, Hamish CUNNINGHAM, Paul BRENNAN, Jon WAKEFIELD a James D MCKAY. Using Prior Information from the Medical Literature in GWAS of Oral Cancer Identifies Novel Susceptibility Variant on Chromosome 4-the AdAPT Method. \textit{Plos One}. SAN FRANCISCO: PUBLIC LIBRARY SCIENCE, 2012, roč.~7, č.~5, s.~''neuvedeno'', 10 s. ISSN~1932-6203. Dostupné z: https://dx.doi.org/10.1371/journal.pone.0036888.
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