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51. Menstrual and Reproductive Factors, Hormone Use, and Risk of Pancreatic Cancer: Analysis from the International Pancreatic Cancer Case-Control Consortium (PanC4)

Author: Lujan-Barroso, L. Zhang, W. Olson, S.H. Gao, Y.-T. Yu, H. Baghurst, P.A. Bracci, P.M. Bueno-De-Mesquita, H.B. Foretová, L. Gallinger, S. Holcatova, I. Janout, V. Ji, B.-T. Kurtz, R.C. La Vecchia, C. Lagiou, P. Li, D. Miller, A.B. Serraino, D. Zatonski, W. Risch, H.A. Duell, E.J.
Abstract: Objectives: We aimed to evaluate the relation between menstrual and reproductive factors, exogenous hormones, and risk of pancreatic cancer (PC). Methods: Eleven case-control studies within the International Pancreatic Cancer Case-control Consortium took part in the present study, including in total 2838 case and 4748 controlwomen. Pooled estimates of odds ratios (ORs) and their 95% confidence intervals (CIs) were calculated using a 2-step logistic regression model and adjusting for relevant covariates. Results: An inverse ORwas observed inwomenwho reported having had hysterectomy (ORyesvs.no, 0.78; 95% CI, 0.67-0.91), remaining significant in postmenopausalwomen and never-smoking women, adjusted for potential PC confounders. A mutually adjusted model with the joint effect for hormone replacement therapy (HRT) and hysterectomy showed significant inverse associations with PC in women who reported having had hysterectomy with HRT use (OR, 0.64; 95% CI, 0.48-0.84). Conclusions: Our large pooled analysis suggests that women who have had a hysterectomy may have reduced risk of PC. However, we cannot rule out that the reduced risk could be due to factors or indications for having had a hysterectomy. Further investigation of risk according to HRT use and reason for hysterectomy may be necessary. Copyright © 2016 Wolters Kluwer Health, Inc. All rights reserved.
Published: 2016

52. Lung cancer susceptibility locus at 5p15.33

Author: McKay JD, Hung RJ, Gaborieau V, Boffetta P, Chabrier A, Byrnes G, Zaridze D, Mukeria A, Szeszenia Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Mates D, Bencko V, Foretova L, Janout V, McLaughlin J, Shepherd F, Montpetit A, Narod S, Krokan HE, Skorpen F, Elvestad MB, Vatten L, Njølstad I, Axelsson T, Chen C, Goodman G, Barnett M, Loomis MM, Lubiñski J, Matyjasik J, Lener M, Oszutowska D, Field J, Liloglou T, Xinarianos G, Cassidy A, EPIC Study, Vineis P, Clavel Chapelon F, Palli D, Tumino R, Krogh V, González CA, Ramón Quirós J, Martínez C, Navarro C, Ardanaz E, Larrañaga N, Kham KT, Key T, Bueno de Mesquita HB, Peeters PH, Trichopoulou A, Linseisen J, Boeing H, Hallmans G, Overvad K, Tjønneland A, Kumle M, Riboli E, Zelenika D, Boland A, Delepine M, Foglio M, Lechner D, Matsuda F, Blanche H, Gut I, Heath S, Lathrop M, Brennan P., PANICO, SALVATORE, McKay, J.D., Hung, R.J., Gaborieau, V., Boffetta, P., Chabrier, A., Byrnes, G., Zaridze, D., Mukeria, A., Szeszenia-Dabrowska, N., Lissowska, J., Rudnai, P., Fabianova, E., Mates, D., Bencko, V., Foretova, L., Janout, V., McLaughlin, J., Shepherd, F., Montpetit, A., Narod, S., Krokan, H.E., Skorpen, F., Elvestad, M.B., Vatten, L., Njølstad, I., Axelsson, T., Chen, C., Goodman, G., Barnett, M., Loomis, M.M., Lubiski, J., Matyjasik, J., Lener, M., Oszutowska, D., Field, J., Liloglou, T., Xinarianos, G., Cassidy, A., Zelenika, D., Boland, A., Delepine, M., Foglio, M., Lechner, D., Matsuda, F., Blanche, H., Gut, I., Heath, S., Lathrop, M., Brennan, P., Vineis, P., Clavel-Chapelon, F., Palli, D., Tumino, R., Krogh, V., Panico, S., González, C.A., Ramón Quirós, J., Martínez, C., Navarro, C., Ardanaz, E., Larrãaga, N., Kham, K.T., Key, T., Bueno-De-Mesquita, H.B., Peeters, P.H.M., Trichopoulou, A., Linseisen, J., Boeing, H., Hallmans, G., Overvad, K., Tjønneland, A., Kumle, M., Riboli, E., Mckay, Jd, Hung, Rj, Gaborieau, V, Boffetta, P, Chabrier, A, Byrnes, G, Zaridze, D, Mukeria, A, Szeszenia Dabrowska, N, Lissowska, J, Rudnai, P, Fabianova, E, Mates, D, Bencko, V, Foretova, L, Janout, V, Mclaughlin, J, Shepherd, F, Montpetit, A, Narod, S, Krokan, He, Skorpen, F, Elvestad, Mb, Vatten, L, Njølstad, I, Axelsson, T, Chen, C, Goodman, G, Barnett, M, Loomis, Mm, Lubiñski, J, Matyjasik, J, Lener, M, Oszutowska, D, Field, J, Liloglou, T, Xinarianos, G, Cassidy, A, Epic, Study, Vineis, P, Clavel Chapelon, F, Palli, D, Tumino, R, Krogh, V, Panico, Salvatore, González, Ca, Ramón Quirós, J, Martínez, C, Navarro, C, Ardanaz, E, Larrañaga, N, Kham, Kt, Key, T, Bueno de Mesquita, Hb, Peeters, Ph, Trichopoulou, A, Linseisen, J, Boeing, H, Hallmans, G, Overvad, K, Tjønneland, A, Kumle, M, Riboli, E, Zelenika, D, Boland, A, Delepine, M, Foglio, M, Lechner, D, Matsuda, F, Blanche, H, Gut, I, Heath, S, and Lathrop, M
Subjects: Lung Neoplasms, Locus (genetics), Genome-wide association study, Apoptosis, Biology, Article, Genetics, medicine, Humans, Genetic Predisposition to Disease, Lung cancer, Gene, Telomerase, Principal Component Analysis, Respiratory disease, Smoking, Case-control study, Cancer, Membrane Proteins, medicine.disease, Lung cancer susceptibility, Molecular biology, Neoplasm Proteins, Case-Control Studies, Immunology, Chromosomes, Human, Pair 5, Genome-Wide Association Study
Abstract: We carried out a genome-wide association study of lung cancer (3,259 cases and 4,159 controls), followed by replication in 2,899 cases and 5,573 controls. Two uncorrelated disease markers at 5p15.33, rs402710 and rs2736100 were detected by the genome-wide data (P = 2 × 10-7 and P = 4 × 10-6) and replicated by the independent study series (P = 7 × 10-5 and P = 0.016). The susceptibility region contains two genes, TERT and CLPTM1L, suggesting that one or both may have a role in lung cancer etiology. © 2008 Nature Publishing Group.
Published: 2008
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53. Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer

Author: Childs, E.J. Mocci, E. Campa, D. Bracci, P.M. Gallinger, S. Goggins, M. Li, D. Neale, R.E. Olson, S.H. Scelo, G. Amundadottir, L.T. Bamlet, W.R. Bijlsma, M.F. Blackford, A. Borges, M. Brennan, P. Brenner, H. Bueno-De-Mesquita, H.B. Canzian, F. Capurso, G. Cavestro, G.M. Chaffee, K.G. Chanock, S.J. Cleary, S.P. Cotterchio, M. Foretova, L. Fuchs, C. Funel, N. Gazouli, M. Hassan, M. Herman, J.M. Holcatova, I. Holly, E.A. Hoover, R.N. Hung, R.J. Janout, V. Key, T.J. Kupcinskas, J. Kurtz, R.C. Landi, S. Lu, L. Malecka-Panas, E. Mambrini, A. Mohelnikova-Duchonova, B. Neoptolemos, J.P. Oberg, A.L. Orlow, I. Pasquali, C. Pezzilli, R. Rizzato, C. Saldia, A. Scarpa, A. Stolzenberg-Solomon, R.Z. Strobel, O. Tavano, F. Vashist, Y.K. Vodicka, P. Wolpin, B.M. Yu, H. Petersen, G.M. Risch, H.A. Klein, A.P.
Abstract: Pancreatic cancer is the fourth leading cause of cancer death in the developed world. Both inherited high-penetrance mutations in BRCA2 (ref. 2), ATM, PALB2 (ref. 4), BRCA1 (ref. 5), STK11 (ref. 6), CDKN2A and mismatch-repair genes and low-penetrance loci are associated with increased risk. To identify new risk loci, we performed a genome-wide association study on 9,925 pancreatic cancer cases and 11,569 controls, including 4,164 newly genotyped cases and 3,792 controls in 9 studies from North America, Central Europe and Australia. We identified three newly associated regions: 17q25.1 (LINC00673, rs11655237, odds ratio (OR) = 1.26, 95% confidence interval (CI) = 1.19-1.34, P = 1.42 × 10-14), 7p13 (SUGCT, rs17688601, OR = 0.88, 95% CI = 0.84-0.92, P = 1.41 × 10-8) and 3q29 (TP63, rs9854771, OR = 0.89, 95% CI = 0.85-0.93, P = 2.35 × 10-8). We detected significant association at 2p13.3 (ETAA1, rs1486134, OR = 1.14, 95% CI = 1.09-1.19, P = 3.36 × 10-9), a region with previous suggestive evidence in Han Chinese. We replicated previously reported associations at 9q34.2 (ABO), 13q22.1 (KLF5), 5p15.33 (TERT and CLPTM1), 13q12.2 (PDX1), 1q32.1 (NR5A2), 7q32.3 (LINC-PINT), 16q23.1 (BCAR1) and 22q12.1 (ZNRF3). Our study identifies new loci associated with pancreatic cancer risk. © 2015 Nature America, Inc. All rights reserved.
Published: 2015

54. Vaskulární a psychosociální rizikové faktory mírné kognitivní poruchy - pilotní studie.

Author: Janoutová, J., Kovalová, M., Ambroz, P., Machaczka, O., Zatloukalová, A., Němček, K., Mrázková, E., Košta, O., and Janout, V.
Abstract: Copyright of General Practitioner / Praktický Lékař is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Published: 2019

55. InterSCOPE Study: Associations Between Esophageal Squamous Cell Carcinoma and Human Papillomavirus Serological Markers

Author: Sitas F, Malekzadeh R, Pawlita M, Dawsey SM, Waterboer T, Webb PM, Green AC, Hayward NK, Zaridze D, Holcatova I, Mates D, Egger S, Szeszenia-Dabrowska N, Ferro G, Janout V, Curado MP, Menezes AM, Koifman S, Islami F, Nasrollahzadeh D, Hu N, Goldstein AM, Urban MI, Gao Y, Ding T, Kamangar F, Taylor PR, Abnet CC, Boffetta P, O'Connell DL, Whiteman DC, Brennan P, Sitas, F., Egger, S., Urban, M.I., Taylor, P.R., Abnet, C.C., Boffetta, P., O'Connell, D.L., Whiteman, D.C., Brennan, P., Malekzadeh, R., Pawlita, M., Dawsey, S.M., Waterboer, T., Webb, P.M., Green, A.C., Hayward, N.K., Zaridze, D., Holcatova, I., Mates, D., Szeszenia-Dabrowska, N., Ferro, G., Janout, V., Curado, M.P., Menezes, A.M., Koifman, S., Islami, F., Nasrollahzadeh, D., Hu, N., Goldstein, A.M., Gao, Y., Ding, T., and Kamangar, F.
Subjects: Male, Cancer Research, Pathology, Esophageal Neoplasms, Etiology - Endogenous Factors in the Origin and Cause of Cancer, Alphapapillomavirus, Antibodies, Viral, Serology, 0302 clinical medicine, Risk Factors, Odds Ratio, 030212 general & internal medicine, Antigens, Viral, Cancer Type - Oesophageal Cancer, Human papillomavirus 16, Human papillomavirus 18, biology, Smoking, virus diseases, Mucous membrane, Confounding Factors, Epidemiologic, Articles, Middle Aged, Esophageal cancer, Koilocyte, 3. Good health, esophageal squamous cell carcinoma, medicine.anatomical_structure, Oncology, 030220 oncology & carcinogenesis, Carcinoma, Squamous Cell, Female, epidemiology, Antibody, Adult, Risk, medicine.medical_specialty, HPV, food.ingredient, Risk Assessment, Sensitivity and Specificity, methods, 03 medical and health sciences, food, medicine, Confidence Intervals, Humans, cancer, Aged, business.industry, case-control studies, Research, Papillomavirus Infections, Case-control study, Australia, Cancer, Proteins, medicine.disease, human papillomavirus (HPV), Tumor Virus Infections, Logistic Models, Case-Control Studies, biology.protein, Other, business
Abstract: Background The role of human papillomavirus (HPV) in the causation of esophageal squamous cell carcinoma is unclear. We examined the associations between esophageal squamous cell carcinoma and 28 centrally measured HPV serological markers in serum from six existing case-control studies conducted in regions with differing Background risks of esophageal cancer. Methods We used centralized multiplex serology to test serum samples from 1561 case subjects and 2502 control subjects from six case-control studies for antibodies to the major HPV capsid protein (L1) and/or the early proteins E6 and/or E7 of eight high-risk, two low-risk, and four cutaneous HPV types. Study-specific odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were estimated using conditional logistic regression with adjustment for smoking, alcohol consumption, and other potential confounders. Pooled odds ratios and 95% confidence intervals were calculated using either a linear mixed-effects approach or a joint fixed-effects approach. All statistical tests were two-sided. ResultsWe found statistically significant associations between esophageal squamous cell carcinoma and antibodies to E6 for HPV16 (OR = 1.89, 95% CI = 1.09 to 3.29, P =. 023) and HPV6 (OR = 2.53, 95% CI = 1.51 to 4.25, P
Published: 2012

56. Occupational exposure to organic dust increases lung cancer risk in the general population

Author: Peters, S., Kromhout, H., Olsson, A.C., Wichmann, H.E., Bruske, I., Consonni, D., Landi, M.T., Caporaso, N., Siemiatycki, J., Richiardi, L., Mirabelli, D., Simonato, L., Gustavsson, P., Plato, N., Jockel, K.H., Ahrens, W., Pohlabeln, H., Boffetta, P., Brennan, P., Zaridze, D., Cassidy, A., Lissowska, J, Szeszenia-Dabrowska, N., Rudnai, P., Fabianova, E., Forastiere, F., Bencko, V., Foretova, L., Janout, V., Stucker, I., Dumitru, R.S., Benhamou, S., Bueno-de-Mesquita, B., Kendzia, B., Pesch, B., Straif, K., Bruning, T., Vermeulen, R., Risk Assessment of Toxic and Immunomodulatory Agents, Dep IRAS, Peters, S., Kromhout, H., Olsson, A.C., Wichmann, H.-E., Brüske, I., Consonni, D., Landi, M.T., Caporaso, N., Siemiatycki, J., Richiardi, L., Mirabelli, D., Simonato, L., Gustavsson, P., Plato, N., Jöckel, K.-H., Ahrens, W., Pohlabeln, H., Boffetta, P., Brennan, P., Zaridze, D., Cassidy, A., Lissowska, J., Szeszenia-Dabrowska, N., Rudnai, P., Fabianova, E., Forastiere, F., Bencko, V., Foretova, L., Janout, V., Stücker, I., Dumitru, R.S., Benhamou, S., Bueno-de-Mesquita, B., Kendzia, B., Pesch, B., Straif, K., Brüning, T., Vermeulen, R., Risk Assessment of Toxic and Immunomodulatory Agents, and Dep IRAS
Subjects: Adult, Male, Pulmonary and Respiratory Medicine, Canada, Lung Neoplasms, case-control study, Population, Medizin, Cumulative Exposure, Logistic regression, Article, Toxicology, Occupational Exposure, Environmental health, Humans, Medicine, Lung cancer, education, Aged, Asthma, education.field_of_study, business.industry, Smoking, Case-control study, Public Health, Environmental and Occupational Health, Dust, Middle Aged, medicine.disease, Occupational exposure to organic du, respiratory tract diseases, Europe, Occupational Diseases, lung cancer, Quartile, Case-Control Studies, Meta-analysis, Female, business
Abstract: Background: Organic dust is a complex mixture of particulate matter from microbial, plant or animal origin. Occupations with exposure to animal products have been associated with an increased lung cancer risk, while exposure to microbial components (eg, endotoxin) has been associated with a decreased risk. To date there has not been a comprehensive evaluation of the possible association between occupational organic dust exposure (and its specific constituents) and lung cancer risk in the general population. Methods: The SYNERGY project has pooled information on lifetime working and smoking from 13 300 lung cancer cases and 16 273 controls from 11 case - control studies conducted in Europe and Canada. A newly developed general population job-exposure matrix (assigning no, low or high exposure to organic dust, endotoxin, and contact with animals or fresh animal products) was applied to determine level of exposure. ORs for lung cancer were estimated by logistic regression, adjusted for age, sex, study, cigarette pack-years, time since quitting smoking, and ever employment in occupations with established lung cancer risk. Results: Occupational organic dust exposure was associated with increased lung cancer risk. The second to the fourth quartile of cumulative exposure showed significant risk estimates ranging from 1.12 to 1.24 in a dose-dependent manner (p
Published: 2012

57. Lung Cancer Among Firefighters: Smoking-Adjusted Risk Estimates in a Pooled Analysis of Case-Control Studies

Author: LS IRAS EEPI EXAS (Arb.hyg+bl.st.kar.), LS IRAS EEPI GRA (Gezh.risico-analyse), dIRAS RA-2, dIRAS RA-I&I RA, Bigert, C, Gustavsson, P, Straif, K, Taeger, D, Pesch, B, Kendzia, B, Schuz, J, Stucker, I, Guida, F, Bruske, I, Wichmann, H E, Pesatori, A C, Landi, M T, Caporaso, N, Tse, L A, Yu, I T, Siemiatycki, J, Lavoue, J, Richiardi, L, Mirabelli, D, Simonato, L, Jockel, K H, Ahrens, W, Pohlabeln, H, Tardon, A, Zaridze, D, Field, J K, t Mannetje, A, Pearce, N, McLaughlin, J, Demers, P, Szeszenia-Dabrowska, N, Lissowska, J, Rudnai, P, Fabianova, E, Stanescu Dumitru, R, Bencko, V, Foretova, L, Janout, V, Boffetta, P, Peters, S, Vermeulen, R, Kromhout, H, Bruning, T, Olsson, A C, LS IRAS EEPI EXAS (Arb.hyg+bl.st.kar.), LS IRAS EEPI GRA (Gezh.risico-analyse), dIRAS RA-2, dIRAS RA-I&I RA, Bigert, C, Gustavsson, P, Straif, K, Taeger, D, Pesch, B, Kendzia, B, Schuz, J, Stucker, I, Guida, F, Bruske, I, Wichmann, H E, Pesatori, A C, Landi, M T, Caporaso, N, Tse, L A, Yu, I T, Siemiatycki, J, Lavoue, J, Richiardi, L, Mirabelli, D, Simonato, L, Jockel, K H, Ahrens, W, Pohlabeln, H, Tardon, A, Zaridze, D, Field, J K, t Mannetje, A, Pearce, N, McLaughlin, J, Demers, P, Szeszenia-Dabrowska, N, Lissowska, J, Rudnai, P, Fabianova, E, Stanescu Dumitru, R, Bencko, V, Foretova, L, Janout, V, Boffetta, P, Peters, S, Vermeulen, R, Kromhout, H, Bruning, T, and Olsson, A C
Published: 2016

58. Genome-wide association study of renal cell carcinoma identifiestwo susceptibility loci on 2p21 and 11q13.3

Author: Purdue MP, Johansson M, Zelenika D, Toro JR, Scelo G, Moore LE, Prokhortchouk E, Wu X, Kiemeney LA, Gaborieau V, Jacobs KB, Chow WH, Zaridze D, Matveev V, Lubinski J, Trubicka J, Szeszenia Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Bucur A, Bencko V, Foretova L, Janout V, Boffetta P, Colt JS, Davis FG, Schwartz KL, Banks RE, Selby PJ, Harnden P, Berg CD, Hsing AW, Grubb RL 3rd, Boeing H, Vineis P, Clavel Chapelon F, Palli D, Tumino R, Krogh V, Duell EJ, Quirós JR, Sanchez MJ, Navarro C, Ardanaz E, Dorronsoro M, Khaw KT, Allen NE, Bueno de Mesquita HB, Peeters PH, Trichopoulos D, Linseisen J, Ljungberg B, Overvad K, Tjønneland A, Romieu I, Riboli E, Mukeria A, Shangina O, Stevens VL, Thun MJ, Diver WR, Gapstur SM, Pharoah PD, Easton DF, Albanes D, Weinstein SJ, Virtamo J, Vatten L, Hveem K, Njølstad I, Tell GS, Stoltenberg C, Kumar R, Koppova K, Cussenot O, Benhamou S, Oosterwijk E, Vermeulen SH, Aben KK, van der Marel SL, Ye Y, Wood CG, Pu X, Mazur AM, Boulygina ES, Chekanov NN, Foglio M, Lechner D, Gut I, Heath S, Blanche H, Hutchinson A, Thomas G, Wang Z, Yeager M, Fraumeni JF Jr, Skryabin KG, McKay JD, Rothman N, Chanock SJ, Lathrop M, Brennan P., PANICO, SALVATORE, Purdue, Mp, Johansson, M, Zelenika, D, Toro, Jr, Scelo, G, Moore, Le, Prokhortchouk, E, Wu, X, Kiemeney, La, Gaborieau, V, Jacobs, Kb, Chow, Wh, Zaridze, D, Matveev, V, Lubinski, J, Trubicka, J, Szeszenia Dabrowska, N, Lissowska, J, Rudnai, P, Fabianova, E, Bucur, A, Bencko, V, Foretova, L, Janout, V, Boffetta, P, Colt, J, Davis, Fg, Schwartz, Kl, Banks, Re, Selby, Pj, Harnden, P, Berg, Cd, Hsing, Aw, Grubb RL, 3rd, Boeing, H, Vineis, P, Clavel Chapelon, F, Palli, D, Tumino, R, Krogh, V, Panico, Salvatore, Duell, Ej, Quirós, Jr, Sanchez, Mj, Navarro, C, Ardanaz, E, Dorronsoro, M, Khaw, Kt, Allen, Ne, Bueno de Mesquita, Hb, Peeters, Ph, Trichopoulos, D, Linseisen, J, Ljungberg, B, Overvad, K, Tjønneland, A, Romieu, I, Riboli, E, Mukeria, A, Shangina, O, Stevens, Vl, Thun, Mj, Diver, Wr, Gapstur, Sm, Pharoah, Pd, Easton, Df, Albanes, D, Weinstein, Sj, Virtamo, J, Vatten, L, Hveem, K, Njølstad, I, Tell, G, Stoltenberg, C, Kumar, R, Koppova, K, Cussenot, O, Benhamou, S, Oosterwijk, E, Vermeulen, Sh, Aben, Kk, van der Marel, Sl, Ye, Y, Wood, Cg, Pu, X, Mazur, Am, Boulygina, E, Chekanov, Nn, Foglio, M, Lechner, D, Gut, I, Heath, S, Blanche, H, Hutchinson, A, Thomas, G, Wang, Z, Yeager, M, Fraumeni JF, Jr, Skryabin, Kg, Mckay, Jd, Rothman, N, Chanock, Sj, Lathrop, M, and Brennan, P.
Published: 2011

59. A genome-wide association study of upperaerodigestive tract cancers conducted within the INHANCE consortium

Author: McKay JD, Truong T, Gaborieau V, Chabrier A, Chuang SC, Byrnes G, Zaridze D, Shangina O, Szeszenia Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Bucur A, Bencko V, Holcatova I, Janout V, Foretova L, Lagiou P, Trichopoulos D, Benhamou S, Bouchardy C, Ahrens W, Merletti F, Richiardi L, Talamini R, Barzan L, Kjaerheim K, Macfarlane GJ, Macfarlane TV, Simonato L, Canova C, Agudo A, Castellsagué X, Lowry R, Conway DI, McKinney PA, Healy CM, Toner ME, Znaor A, Curado MP, Koifman S, Menezes A, Wünsch Filho V, Neto JE, Garrote LF, Boccia S, Cadoni G, Arzani D, Olshan AF, Weissler MC, Funkhouser WK, Luo J, Lubiński J, Trubicka J, Lener M, Oszutowska D, Schwartz SM, Chen C, Fish S, Doody DR, Muscat JE, Lazarus P, Gallagher CJ, Chang SC, Zhang ZF, Wei Q, Sturgis EM, Wang LE, Franceschi S, Herrero R, Kelsey KT, McClean MD, Marsit CJ, Nelson HH, Romkes M, Buch S, Nukui T, Zhong S, Lacko M, Manni JJ, Peters WH, Hung RJ, McLaughlin J, Vatten L, Njølstad I, Goodman GE, Field JK, Liloglou T, Vineis P, Clavel Chapelon F, Palli D, Tumino R, Krogh V, González CA, Quirós JR, Martínez C, Navarro C, Ardanaz E, Larrañaga N, Khaw KT, Key T, Bueno de Mesquita HB, Peeters PH, Trichopoulou A, Linseisen J, Boeing H, Hallmans G, Overvad K, Tjønneland A, Kumle M, Riboli E, Välk K, Vooder T, Metspalu A, Zelenika D, Boland A, Delepine M, Foglio M, Lechner D, Blanché H, Gut IG, Galan P, Heath S, Hashibe M, Hayes RB, Boffetta P, Lathrop M, Brennan P., PANICO, SALVATORE, Mckay, Jd, Truong, T, Gaborieau, V, Chabrier, A, Chuang, Sc, Byrnes, G, Zaridze, D, Shangina, O, Szeszenia Dabrowska, N, Lissowska, J, Rudnai, P, Fabianova, E, Bucur, A, Bencko, V, Holcatova, I, Janout, V, Foretova, L, Lagiou, P, Trichopoulos, D, Benhamou, S, Bouchardy, C, Ahrens, W, Merletti, F, Richiardi, L, Talamini, R, Barzan, L, Kjaerheim, K, Macfarlane, Gj, Macfarlane, Tv, Simonato, L, Canova, C, Agudo, A, Castellsagué, X, Lowry, R, Conway, Di, Mckinney, Pa, Healy, Cm, Toner, Me, Znaor, A, Curado, Mp, Koifman, S, Menezes, A, Wünsch Filho, V, Neto, Je, Garrote, Lf, Boccia, S, Cadoni, G, Arzani, D, Olshan, Af, Weissler, Mc, Funkhouser, Wk, Luo, J, Lubiński, J, Trubicka, J, Lener, M, Oszutowska, D, Schwartz, Sm, Chen, C, Fish, S, Doody, Dr, Muscat, Je, Lazarus, P, Gallagher, Cj, Chang, Sc, Zhang, Zf, Wei, Q, Sturgis, Em, Wang, Le, Franceschi, S, Herrero, R, Kelsey, Kt, Mcclean, Md, Marsit, Cj, Nelson, Hh, Romkes, M, Buch, S, Nukui, T, Zhong, S, Lacko, M, Manni, Jj, Peters, Wh, Hung, Rj, Mclaughlin, J, Vatten, L, Njølstad, I, Goodman, Ge, Field, Jk, Liloglou, T, Vineis, P, Clavel Chapelon, F, Palli, D, Tumino, R, Krogh, V, Panico, Salvatore, González, Ca, Quirós, Jr, Martínez, C, Navarro, C, Ardanaz, E, Larrañaga, N, Khaw, Kt, Key, T, Bueno de Mesquita, Hb, Peeters, Ph, Trichopoulou, A, Linseisen, J, Boeing, H, Hallmans, G, Overvad, K, Tjønneland, A, Kumle, M, Riboli, E, Välk, K, Vooder, T, Metspalu, A, Zelenika, D, Boland, A, Delepine, M, Foglio, M, Lechner, D, Blanché, H, Gut, Ig, Galan, P, Heath, S, Hashibe, M, Hayes, Rb, Boffetta, P, Lathrop, M, and Brennan, P.
Published: 2011

60. Diabetes, antidiabetic medications, and pancreatic cancer risk: an analysis from the International Pancreatic Cancer Case-Control Consortium

Author: Bosetti, C. Rosato, V. Li, D. Silverman, D. Petersen, G.M. Bracci, P.M. Neale, R.E. Muscat, J. Anderson, K. Gallinger, S. Olson, S.H. Miller, A.B. Bas Bueno-de-Mesquita, H. Scelo, G. Janout, V. Holcatova, I. Lagiou, P. Serraino, D. Lucenteforte, E. Fabianova, E. Baghurst, P.A. Zatonski, W. Foretova, L. Fontham, E. Bamlet, W.R. Holly, E.A. Negri, E. Hassan, M. Prizment, A. Cotterchio, M. Cleary, S. Kurtz, R.C. Maisonneuve, P. Trichopoulos, D. Polesel, J. Duell, E.J. Boffetta, P. La Vecchia, C. Ghadirian, P.
Abstract: Background: Type 2 diabetes mellitus has been associated with an excess risk of pancreatic cancer, but the magnitude of the risk and the time–risk relationship are unclear, and there is limited information on the role of antidiabetic medications. Patients and methods: We analyzed individual-level data from 15 case–control studies within the Pancreatic Cancer Case-Control Consortium, including 8305 cases and 13 987 controls. Pooled odds ratios (ORs) were estimated from multiple logistic regression models, adjusted for relevant covariates. Results: Overall, 1155 (15%) cases and 1087 (8%) controls reported a diagnosis of diabetes 2 or more years before cancer diagnosis (or interview, for controls), corresponding to an OR of 1.90 (95% confidence interval, CI, 1.72–2.09). Consistent risk estimates were observed across strata of selected covariates, including body mass index and tobacco smoking. Pancreatic cancer risk decreased with duration of diabetes, but a significant excess risk was still evident 20 or more years after diabetes diagnosis (OR 1.30, 95% CI 1.03–1.63). Among diabetics, long duration of oral antidiabetic use was associated with a decreased pancreatic cancer risk (OR 0.31, 95% CI 0.14–0.69, for ≥15 years). Conversely, insulin use was associated with a pancreatic cancer risk in the short term (OR 5.60, 95% CI 3.75–8.35, for
Published: 2014

61. A genome-wide association study of anorexia nervosa

Author: Boraska, V. Franklin, C.S. Floyd, J.A.B. Thornton, L.M. Huckins, L.M. Southam, L. Rayner, N.W. Tachmazidou, I. Klump, K.L. Treasure, J. Lewis, C.M. Schmidt, U. Tozzi, F. Kiezebrink, K. Hebebrand, J. Gorwood, P. Adan, R.A.H. Kas, M.J.H. Favaro, A. Santonastaso, P. Fernández-Aranda, F. Gratacos, M. Rybakowski, F. Dmitrzak-Weglarz, M. Kaprio, J. Keski-Rahkonen, A. Raevuori, A. Van Furth, E.F. Slof-Op 't Landt, M.C.T. Hudson, J.I. Reichborn-Kjennerud, T. Knudsen, G.P.S. Monteleone, P. Kaplan, A.S. Karwautz, A. Hakonarson, H. Berrettini, W.H. Guo, Y. Li, D. Schork, N.J. Komaki, G. Ando, T. Inoko, H. Esko, T. Fischer, K. Männik, K. Metspalu, A. Baker, J.H. Cone, R.D. Dackor, J. DeSocio, J.E. Hilliard, C.E. O'Toole, J.K. Pantel, J. Szatkiewicz, J.P. Taico, C. Zerwas, S. Trace, S.E. Davis, O.S.P. Helder, S. Bühren, K. Burghardt, R. De Zwaan, M. Egberts, K. Ehrlich, S. Herpertz-Dahlmann, B. Herzog, W. Imgart, H. Scherag, A. Scherag, S. Zipfel, S. Boni, C. Ramoz, N. Versini, A. Brandys, M.K. Danner, U.N. De Kovel, C. Hendriks, J. Koeleman, B.P.C. Ophoff, R.A. Strengman, E. Van Elburg, A.A. Bruson, A. Clementi, M. Degortes, D. Forzan, M. Tenconi, E. Docampo, E. Escaramís, G. Jiménez-Murcia, S. Lissowska, J. Rajewski, A. Szeszenia-Dabrowska, N. Slopien, A. Hauser, J. Karhunen, L. Meulenbelt, I. Slagboom, P.E. Tortorella, A. Maj, M. Dedoussis, G. Dikeos, D. Gonidakis, F. Tziouvas, K. Tsitsika, A. Papezova, H. Slachtova, L. Martaskova, D. Kennedy, J.L. Levitan, R.D. Yilmaz, Z. Huemer, J. Koubek, D. Merl, E. Wagner, G. Lichtenstein, P. Breen, G. Cohen-Woods, S. Farmer, A. McGuffin, P. Cichon, S. Giegling, I. Herms, S. Rujescu, D. Schreiber, S. Wichmann, H.-E. Dina, C. Sladek, R. Gambaro, G. Soranzo, N. Julia, A. Marsal, S. Rabionet, R. Gaborieau, V. Dick, D.M. Palotie, A. Ripatti, S. Widén, E. Andreassen, O.A. Espeseth, T. Lundervold, A. Reinvang, I. Steen, V.M. Le Hellard, S. Mattingsdal, M. Ntalla, I. Bencko, V. Foretova, L. Janout, V. Navratilova, M. Gallinger, S. Pinto, D. Scherer, S.W. Aschauer, H. Carlberg, L. Schosser, A. Alfredsson, L. Ding, B. Klareskog, L. Padyukov, L. Courtet, P. Guillaume, S. Jaussent, I. Finan, C. Kalsi, G. Roberts, M. Logan, D.W. Peltonen, L. Ritchie, G.R.S. Barrett, J.C. Anderson, C.A. McGinnis, R. Zeggini, E. Sambrook, J. Stephens, J. Ouwehand, W.H. McArdle, W.L. Ring, S.M. Strachan, D.P. Alexander, G. Bulik, C.M. Collier, D.A. Conlon, P.J. Dominiczak, A. Duncanson, A. Hill, A. Langford, C. Lord, G. Maxwell, A.P. Morgan, L. Sandford, R.N. Sheerin, N. Vannberg, F.O. Blackburn, H. Chen, W.-M. Edkins, S. Gillman, M. Gray, E. Hunt, S.E. Onengut-Gumuscu, S. Potter, S. Rich, S.S. Simpkin, D. Whittaker, P. Estivill, X. Hinney, A. Sullivan, P.F. The Wellcome Trust Case Control Consortium 3
Abstract: Anorexia nervosa (AN) is a complex and heritable eating disorder characterized by dangerously low body weight. Neither candidate gene studies nor an initial genome-wide association study (GWAS) have yielded significant and replicated results. We performed a GWAS in 2907 cases with AN from 14 countries (15 sites) and 14 860 ancestrally matched controls as part of the Genetic Consortium for AN (GCAN) and the Wellcome Trust Case Control Consortium 3 (WTCCC3). Individual association analyses were conducted in each stratum and meta-analyzed across all 15 discovery data sets. Seventy-six (72 independent) single nucleotide polymorphisms were taken forward for in silico (two data sets) or de novo (13 data sets) replication genotyping in 2677 independent AN cases and 8629 European ancestry controls along with 458 AN cases and 421 controls from Japan. The final global meta-analysis across discovery and replication data sets comprised 5551 AN cases and 21 080 controls. AN subtype analyses (1606 AN restricting; 1445 AN binge-purge) were performed. No findings reached genome-wide significance. Two intronic variants were suggestively associated: rs9839776 (P = 3.01 × 10-7) in SOX2OT and rs17030795 (P = 5.84 × 10-6) in PPP3CA. Two additional signals were specific to Europeans: rs1523921 (P = 5.76 × 10-6) between CUL3 and FAM124B and rs1886797 (P = 8.05 × 10-6) near SPATA13. Comparing discovery with replication results, 76% of the effects were in the same direction, an observation highly unlikely to be due to chance (P = 4 × 10-6), strongly suggesting that true findings exist but our sample, the largest yet reported, was underpowered for their detection. The accrual of large genotyped AN case-control samples should be an immediate priority for the field. © 2014 Macmillan Publishers Limited All rights reserved.
Published: 2014

62. Using ancestry-informative markers to identify fine structure across 15 populations of European origin

Author: Huckins, L.M. Boraska, V. Franklin, C.S. Floyd, J.A.B. Southam, L. Sullivan, P.F. Bulik, C.M. Collier, D.A. Tyler-Smith, C. Zeggini, E. Tachmazidou, I. Thornton, L.M. William Rayner, N. Klump, K.L. Treasure, J. Schmidt, U. Tozzi, F. Kiezebrink, K. Hebebrand, J. Gorwood, P. Adan, R.A.H. Kas, M.J.H. Favaro, A. Santonastaso, P. Fernández-Aranda, F. Gratacos, M. Rybakowski, F. Dmitrzak-Weglarz, M. Kaprio, J. Keski-Rahkonen, A. Raevuori, A. Van Furth, E.F. Slof-Op t Landt, M.C.T. Hudson, J.I. Reichborn-Kjennerud, T. Knudsen, G.P.S. Monteleone, P. Kaplan, A.S. Karwautz, A. Hakonarson, H. Berrettini, W.H. Guo, Y. Li, D. Schork, N.J. Komaki, G. Ando, T. Inoko, H. Esko, T. Fischer, K. Männik, K. Metspalu, A. Baker, J.H. Cone, R.D. Dackor, J. DeSocio, J.E. Hilliard, C.E. O'Toole, J.K. Pantel, J. Szatkiewicz, J.P. Taico, C. Zerwas, S. Trace, S.E. Davis, O.S.P. Helder, S. Bühren, K. Burghardt, R. de Zwaan, M. Egberts, K. Ehrlich, S. Herpertz-Dahlmann, B. Herzog, W. Imgart, H. Scherag, S. Zipfel, S. Boni, C. Ramoz, N. Versini, A. Brandys, M.K. Danner, U.N. de Kovel, C. Hendriks, J. Koeleman, B.P.C. Ophoff, R.A. Strengman, E. van Elburg, A.A. Bruson, A. Clementi, M. Degortes, D. Forzan, M. Tenconi, E. Docampo, E. Escaramís, G. Jiménez-Murcia, S. Lissowska, J. Rajewski, A. Szeszenia-Dabrowska, N. Slopien, A. Hauser, J. Karhunen, L. Meulenbelt, I. Slagboom, P.E. Tortorella, A. Maj, M. Dedoussis, G. Dikeos, D. Gonidakis, F. Tziouvas, K. Tsitsika, A. Papezova, H. Slachtova, L. Martaskova, D. Kennedy, J.L. Levitan, R.D. Yilmaz, Z. Huemer, J. Koubek, D. Merl, E. Wagner, G. Lichtenstein, P. Breen, G. Cohen-Woods, S. Farmer, A. McGuffin, P. Cichon, S. Giegling, I. Herms, S. Rujescu, D. Schreiber, S. Wichmann, H.-E. Dina, C. Sladek, R. Gambaro, G. Soranzo, N. Julia, A. Marsal, S. Rabionet, R. Gaborieau, V. Dick, D.M. Palotie, A. Ripatti, S. Widén, E. Andreassen, O.A. Espeseth, T. Lundervold, A. Reinvang, I. Steen, V.M. Le Hellard, S. Mattingsdal, M. Ntalla, I. Bencko, V. Foretova, L. Janout, V. Navratilova, M. Gallinger, S. Pinto, D. Scherer, S.W. Aschauer, H. Carlberg, L. Schosser, A. Alfredsson, L. Ding, B. Klareskog, L. Padyukov, L. Finan, C. Kalsi, G. Roberts, M. Logan, D.W. Peltonen, L. Ritchie, G.R.S. Courtet, P. Guillame, S. Jaussent, I. Barrett, J.C. Estivill, X. Hinney, A. Bulik, C.M. McGinnis, R. Sambrook, J. Stephens, J. Ouwehand, W.H. McArdle, W.L. Ring, S.M. Strachan, D.P. Alexander, G. Conlon, P.J. Dominiczak, A. Anderson, C.A. Hill, A. Langford, C. Lord, G. Maxwell, A.P. Morgan, L. Sandford, R.N. Sheerin, N. Vannberg, F.O. Blackburn, H. Chen, W.-M. Edkins, S. Gillman, M. Gray, E. Hunt, S.E. Onengut-Gumuscu, S. Potter, S. Rich, S.S. Simpkin, D. Whittaker, P.
Abstract: The Wellcome Trust Case Control Consortium 3 anorexia nervosa genome-wide association scan includes 2907 cases from 15 different populations of European origin genotyped on the Illumina 670K chip. We compared methods for identifying population stratification, and suggest list of markers that may help to counter this problem. It is usual to identify population structure in such studies using only common variants with minor allele frequency (MAF) >5%; we find that this may result in highly informative SNPs being discarded, and suggest that instead all SNPs with MAF >1% may be used. We established informative axes of variation identified via principal component analysis and highlight important features of the genetic structure of diverse European-descent populations, some studied for the first time at this scale. Finally, we investigated the substructure within each of these 15 populations and identified SNPs that help capture hidden stratification. This work can provide information regarding the designing and interpretation of association results in the International Consortia. © 2014 Macmillan Publishers Limited All rights reserved.
Published: 2014

63. Past and Present ARDS Mortality Rates: A Systematic Review

Author: Maca, J., primary, Jor, O., additional, Holub, M., additional, Sklienka, P., additional, Bur a, F., additional, Burda, M., additional, Janout, V., additional, and ev ik, P., additional
Published: 2016
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64. Lung cancer and indoor pollution from heating and cooking with solid fuels: The IARC international multicentre case-control study in Eastern/Central Europe and the United Kingdom

Author: Lissowska, J., Bardin-Mikolajczak, A., Fletcher, T., Zaridze, D., Szeszenia-Dabrowska, N., Rudnai, P., Fabianova, E., Cassidy, A., Mates, D., Holcatova, I., Vitova, V., Janout, V., Mannetje, A., Brennan, P., Boffetta, P., Lissowska, J., Bardin-Mikolajczak, A., Fletcher, T., Zaridze, D., Szeszenia-Dabrowska, N., Rudnai, P., Fabianova, E., Cassidy, A., Mates, D., Holcatova, I., Vitova, V., Janout, V., Mannetje, A., Brennan, P., and Boffetta, P.
Subjects: Lung cancer
Abstract: Exposure to fuel from cooking and heating has not been studied in Europe, where lung cancer rates are high and many residents have had a long tradition of burning coal and unprocessed biomass. Study subjects included 2,861 cases and 3,118 controls recruited during 1998-2002 in the Czech Republic, Hungary, Poland, Romania, Russia, Slovakia, and the United Kingdom. The odds ratio of lung cancer associated with solid fuel use was 1.22 (95% confidence interval (Cl): 1.04, 1.44) for cooking or heating, 1.37 (95% Cl: 0.90, 2.09) for solid fuel only for cooking, and 1.24 (95% Cl: 1.05, 1.47) for solid fuels used for both cooking and heating. Risk increased relative to the percentage of time that solid fuel was used for cooking (ptrend < 0.0001), while no risk increase was detected for solid fuel used for heating. The odds ratio of lung cancer in whole-life users of solid cooking fuel was 1.80 (95% Cl: 1.35, 2.40). Switching to nonsolid fuels resulted in a decrease in risk. The odds ratio for the longest duration of time since switching was 0.76 (95% Cl: 0.63, 0.92). The data suggest a modest increased risk of lung cancer related to solid-fuel use for cooking rather than heating. Copyright © 2005 by the Johns Hopkins Bloomberg School of Public Health All rights reserved.
Published: 2005

65. Occupational X-ray examinations and lung cancer risk

Author: Boffetta, P., Mannetje, A., Zaridze, D., Szeszenia-Dabrowska, N., Rudnai, P., Lissowska, J., Fabiánová, E., Mates, D., Bencko, V., Navratilova, M., Janout, V., Cardis, E., Fevotte, J., Fletcher, T., Brennan, P., Boffetta, P., Mannetje, A., Zaridze, D., Szeszenia-Dabrowska, N., Rudnai, P., Lissowska, J., Fabiánová, E., Mates, D., Bencko, V., Navratilova, M., Janout, V., Cardis, E., Fevotte, J., Fletcher, T., and Brennan, P.
Subjects: Lung cancer
Abstract: Occupational X-ray examination programs have been conducted in many countries to screen for occupational and nonoccupational respiratory diseases, resulting in widespread exposure to X-radiation. We conducted a multicentre case-control study of lung cancer in the Czech Republic, Hungary, Poland, Romania, Russia and Slovakia, including 2,589 cases and 2,859 controls enrolled during 1998-2002. We collected detailed information on occupational X-ray examinations, occupations and tobacco smoking. We calculated odds ratios of lung cancer via multiple logistic regression after adjustment for age, sex, center and tobacco smoking. Among controls 24.9% reported no X-ray examination, 62.9% reported 1-30 examinations and 12.2% reported more than 30 examinations. When we chose individuals with no examination as the reference group, the odds ratios of lung cancer were 1.21 (95% confidence interval [CI] 0.99-1.48), 1.33 (95% CI 1.08-1.64), 1.49 (95% CI 1.18-1.87), 1.52 (95% CI 1.17-1.99) and 2.15 (95% CI 1.50-3.08) for 1-10, 11-20, 21-30, 31-40 and more than 40 examinations, respectively (p-value of test for linear trend
Published: 2005

66. A Rare Truncating BRCA2 Variant and Genetic Susceptibility to Upper Aerodigestive Tract Cancer

Author: Delahaye-Sourdeix, M, Anantharaman, D, Timofeeva, MN, Gaborieau, V, Chabrier, A, Vallee, MP, Lagiou, P, Holcatova, I, Richiardi, L, Kjaerheim, K, Agudo, A, Castellsague, X, Macfarlane, TV, Barzan, L, Canova, C, Thakker, NS, Conway, DI, Znaor, A, Healy, CM, Ahrens, W, Zaridze, D, Szeszenia-Dabrowska, N, Lissowska, J, Fabianova, E, Mates, IN, Bencko, V, Foretova, L, Janout, V, Curado, MP, Koifman, S, Menezes, A, Wunsch-Filho, V, Eluf-Neto, J, Boffetta, P, Fernandez Garrote, L, Polesel, J, Lener, M, Jaworowska, E, Lubiński, J, BOCCIA, STEFANIA, Rajkumar, T, Samant, TA, Mahimkar, MB, Matsuo, K, Franceschi, S, Byrnes, G, Brennan, P, McKay, JD, Delahaye-Sourdeix, M, Anantharaman, D, Timofeeva, MN, Gaborieau, V, Chabrier, A, Vallee, MP, Lagiou, P, Holcatova, I, Richiardi, L, Kjaerheim, K, Agudo, A, Castellsague, X, Macfarlane, TV, Barzan, L, Canova, C, Thakker, NS, Conway, DI, Znaor, A, Healy, CM, Ahrens, W, Zaridze, D, Szeszenia-Dabrowska, N, Lissowska, J, Fabianova, E, Mates, IN, Bencko, V, Foretova, L, Janout, V, Curado, MP, Koifman, S, Menezes, A, Wunsch-Filho, V, Eluf-Neto, J, Boffetta, P, Fernandez Garrote, L, Polesel, J, Lener, M, Jaworowska, E, Lubiński, J, BOCCIA, STEFANIA, Rajkumar, T, Samant, TA, Mahimkar, MB, Matsuo, K, Franceschi, S, Byrnes, G, Brennan, P, and McKay, JD
Published: 2015

67. A Rare Truncating BRCA2 Variant and Genetic Susceptibility to Upper Aerodigestive Tract Cancer

Author: Delahaye Sourdeix, M, Anantharaman, D, Timofeeva, Mn, Gaborieau, V, Chabrier, A, Vallee, Mp, Lagiou, P, Holcatova, I, Richiardi, L, Kjaerheim, K, Agudo, A, Castellsague, X, Macfarlane, Tv, Barzan, L, Canova, C, Thakker, N, Conway, Di, Znaor, A, Healy, Cm, Ahrens, W, Zaridze, D, Szeszenia Dabrowska, N, Lissowska, J, Fabianova, E, Mates, In, Bencko, V, Foretova, L, Janout, V, Curado, Mp, Koifman, S, Menezes, A, Wunsch Filho, V, Eluf Neto, J, Boffetta, P, Fernandez Garrote, L, Polesel, J, Lener, M, Jaworowska, E, Lubiński, J, Boccia, Stefania, Rajkumar, T, Samant, Ta, Mahimkar, Mb, Matsuo, K, Franceschi, S, Byrnes, G, Brennan, P, Mckay, Jd, Boccia, Stefania (ORCID:0000-0002-1864-749X), Delahaye Sourdeix, M, Anantharaman, D, Timofeeva, Mn, Gaborieau, V, Chabrier, A, Vallee, Mp, Lagiou, P, Holcatova, I, Richiardi, L, Kjaerheim, K, Agudo, A, Castellsague, X, Macfarlane, Tv, Barzan, L, Canova, C, Thakker, N, Conway, Di, Znaor, A, Healy, Cm, Ahrens, W, Zaridze, D, Szeszenia Dabrowska, N, Lissowska, J, Fabianova, E, Mates, In, Bencko, V, Foretova, L, Janout, V, Curado, Mp, Koifman, S, Menezes, A, Wunsch Filho, V, Eluf Neto, J, Boffetta, P, Fernandez Garrote, L, Polesel, J, Lener, M, Jaworowska, E, Lubiński, J, Boccia, Stefania, Rajkumar, T, Samant, Ta, Mahimkar, Mb, Matsuo, K, Franceschi, S, Byrnes, G, Brennan, P, Mckay, Jd, and Boccia, Stefania (ORCID:0000-0002-1864-749X)
Abstract: Deleterious BRCA2 genetic variants markedly increase risk of developing breast cancer. A rare truncating BRCA2 genetic variant, rs11571833 (K3326X), has been associated with a 2.5-fold risk of lung squamous cell carcinoma but only a modest 26% increase in breast cancer risk. We analyzed the association between BRCA2 SNP rs11571833 and upper aerodigestive tract (UADT) cancer risk with multivariable unconditional logistic regression adjusted by sex and combinations of study and country for 5942 UADT squamous cell carcinoma case patients and 8086 control patients from nine different studies. All statistical tests were two-sided. rs11571833 was associated with UADT cancers (odds ratio = 2.53, 95% confidence interval = 1.89 to 3.38, P = 3x10(-10)) and was present in European, Latin American, and Indian populations but extremely rare in Japanese populations. The association appeared more apparent in smokers (current or former) compared with never smokers (P-het = .026). A robust association between a truncating BRCA2 variant and UADT cancer risk suggests that treatment strategies orientated towards BRCA2 mutations may warrant further investigation in UADT tumors.
Published: 2015

68. The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract

Author: Delahaye Sourdeix, M, Oliver, J, Timofeeva, Mn, Gaborieau, V, Johansson, M, Chabrier, A, Wozniak, Mb, Brenner, Dr, Vallée, Mp, Anantharaman, D, Lagiou, P, Holcátová, I, Richiardi, L, Kjaerheim, K, Agudo, A, Castellsagué, X, Macfarlane, Tv, Barzan, L, Canova, C, Thakker, N, Conway, Di, Znaor, A, Healy, Cm, Ahrens, W, Zaridze, D, Szeszenia Dabrowska, N, Lissowska, J, Fabianova, E, Mates, In, Bencko, V, Foretova, L, Janout, V, Curado, Mp, Koifman, S, Menezes, A, Wünsch Filho, V, Eluf Neto, J, Boffetta, P, Garrote, Lf, Serraino, D, Lener, M, Jaworowska, E, Lubiński, J, Boccia, Stefania, Rajkumar, T, Samant, Ta, Mahimkar, Mb, Matsuo, K, Franceschi, S, Byrnes, G, Brennan, P, Mckay, Jd, Boccia, Stefania (ORCID:0000-0002-1864-749X), Delahaye Sourdeix, M, Oliver, J, Timofeeva, Mn, Gaborieau, V, Johansson, M, Chabrier, A, Wozniak, Mb, Brenner, Dr, Vallée, Mp, Anantharaman, D, Lagiou, P, Holcátová, I, Richiardi, L, Kjaerheim, K, Agudo, A, Castellsagué, X, Macfarlane, Tv, Barzan, L, Canova, C, Thakker, N, Conway, Di, Znaor, A, Healy, Cm, Ahrens, W, Zaridze, D, Szeszenia Dabrowska, N, Lissowska, J, Fabianova, E, Mates, In, Bencko, V, Foretova, L, Janout, V, Curado, Mp, Koifman, S, Menezes, A, Wünsch Filho, V, Eluf Neto, J, Boffetta, P, Garrote, Lf, Serraino, D, Lener, M, Jaworowska, E, Lubiński, J, Boccia, Stefania, Rajkumar, T, Samant, Ta, Mahimkar, Mb, Matsuo, K, Franceschi, S, Byrnes, G, Brennan, P, Mckay, Jd, and Boccia, Stefania (ORCID:0000-0002-1864-749X)
Abstract: Genetic variants located within the 12p13.33/RAD52 locus have been associated with lung squamous cell carcinoma (LUSC). Here, within 5,947 UADT cancers and 7,789 controls from 9 different studies, we found rs10849605, a common intronic variant in RAD52, to be also associated with upper aerodigestive tract (UADT) squamous cell carcinoma cases (OR = 1.09, 95% CI: 1.04-1.15, p = 6x10(-4)). We additionally identified rs10849605 as a RAD52 cis-eQTL inUADT(p = 1x10(-3)) and LUSC (p = 9x10(-4)) tumours, with the UADT/LUSC risk allele correlated with increased RAD52 expression levels. The 12p13.33 locus, encompassing rs10849605/RAD52, was identified as a significant somatic focal copy number amplification in UADT(n = 374, q-value = 0.075) and LUSC (n = 464, q-value = 0.007) tumors and correlated with higher RAD52 tumor expression levels (p = 6x10(-48) and p = 3x10(-29) in UADT and LUSC, respectively). In combination, these results implicate increased RAD52 expression in both genetic susceptibility and tumorigenesis of UADT and LUSC tumors.
Published: 2015

69. Polymer-supported dimethyl sulfoxide as phase-transfer catalyst

Author: Janout, V., Kahovec, J., Hrudková, H., Švec, F., and Čefelín, P.
Published: 1984
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70. Immunological potency of a subunit influenza vaccine in adults

Author: Janout, V. and Uvízl, M.
Published: 1977
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71. Polymer-supported aza-15-crown-5 as effective catalyst for phase-transfer reactions

Author: Valter, B., Janout, V., Hrudková, H., Čefelín, P., Lukyanenko, N. G., Basok, S. S., and Kulygina, E. Yu.
Published: 1989
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72. Pseudocrown ethers based on polyphosphazene as effective catalysts of nucleophilic substitution reactions

Author: Janout, V., Čefelín, P., Tur, D. R., and Vinogradova, S. V.
Published: 1986
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73. Polymeric reagents: Poly(trifluoroacetoxymercurio)styrene. Preparation and use in reactions with alkyl halides

Author: Hrudkovà, H., Čefelín, P., and Janout, V.
Published: 1988
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74. Polymer-supported oligo(N-acetyliminoethylenes) new phase transfer catalysts

Author: Kahovec, J., Jelínková, M., and Janout, V.
Published: 1986
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75. Polymer reagents: preparation of polymer esters of thiocarboxylic acids based on crosslinked polystyrene

Author: Janout, V. and Čefelín, P.
Published: 1986
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76. All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs

Author: Aj, Schork, Wk, Thompson, Pham P, Torkamani A, Jc, Roddey, Pf, Sullivan, Jr, Kelsoe, Donovan Mc, O., Furberg H, Tobacco and Genetics Consortium, Bipolar Disorder Psychiatric Genomics Consortium, Schizophrenia Psychiatric Genomics Consortium, Nj, Schork, Oa, Andreassen, Am, Dale, Absher D, Agudo A, Almgren P, Ardissino D, Tl, Assimes, Bandinelli S, Barzan L, Bencko V, Benhamou S, Ej, Benjamin, Bernardinelli L, Bis J, Boehnke M, Boerwinkle E, Di, Boomsma, Brennan P, Canova C, Castellsagué X, Chanock S, Chasman D, Di, Conway, Dackor J, Ej, Geus, Duan J, Elosua R, Everett B, Fabianova E, Ferrucci L, Foretova L, Sp, Fortmann, Franceschini N, Frayling T, Furberg C, Pv, Gejman, Groop L, Gu F, Guralnik J, Se, Hankinson, Haritunians T, Healy C, Hofman A, Holcátová I, Dj, Hunter, Sj, Hwang, Jp, Ioannidis, Iribarren C, Au, Jackson, Janout V, Kaprio J, Kim Y, Kjaerheim K, Jw, Knowles, Kraft P, Ladenvall C, Lagiou P, Lanthrop M, Lerman C, Df, Levinson, Levy D, Md, Li, Dy, Lin, Eh, Lips, Lissowska J, Lowry R, Lucas G, Tv, Macfarlane, Maes H, Pm, Mannucci, Mates D, Mauri F, Ja, Mcgovern, Jd, Mckay, McKnight B, Melander O, Pa, Merlini, Milaneschi Y, Kl, Mohlke, Donnell Cj, O., Pare G, Bw, Penninx, Perry J, Posthuma D, Sr, Preis, Psaty B, Quertermous T, Vs, Ramachandran, Richiardi L, Ridker P, Rose J, Rudnai P, Salomaa V, Ar, Sanders, Sm, Schwartz, Shi J, Jh, Smit, Hm, Stringham, Szeszenia-Dabrowska N, Tanaka T, Taylor K, Thacker E, Thornton L, Tiemeier H, Tuomilehto J, Ag, Uitterlinden, Cm, Duijn, Jm, Vink, Vogelzangs N, Bf, Voight, Walter S, Willemsen G, Zaridze D, Znaor A, Akil H, Anjorin A, Backlund L, Ja, Badner, Jd, Barchas, Tb, Barrett, Bass N, Bauer M, Bellivier F, Se, Bergen, Berrettini W, Blackwood D, Cs, Bloss, Breen G, Breuer R, We, Bunner, Burmeister M, Byerley W, Caesar S, Chambert K, Cichon S, St Clair D, Da, Collier, Corvin A, Wh, Coryell, Craddock N, Dw, Craig, Daly M, Day R, Degenhardt F, Djurovic S, Dudbridge F, Hj, Edenberg, Elkin A, Etain B, Ae, Farmer, Ma, Ferreira, Ferrier I, Flickinger M, Foroud T, Frank J, Fraser C, Frisén L, Es, Gershon, Gill M, Gordon-Smith K, Ek, Green, Ta, Greenwood, Grozeva D, Guan W, Gurling H, Ó, Gustafsson, Ml, Hamshere, Hautzinger M, Herms S, Hipolito M, Pa, Holmans, Cm, Hultman, Jamain S, Eg, Jones, Jones I, Jones L, Kandaswamy R, Jl, Kennedy, Gk, Kirov, Dl, Koller, Kwan P, Landén M, Langstrom N, Lathrop M, Lawrence J, Wb, Lawson, Leboyer M, Ph, Lee, Li J, Lichtenstein P, Lin D, Liu C, Fw, Lohoff, Lucae S, Pb, Mahon, Maier W, Ng, Martin, Mattheisen M, Matthews K, Mattingsdal M, Ka, Mcghee, McGuffin P, Mg, Mcinnis, McIntosh A, McKinney R, Aw, Mclean, Fj, Mcmahon, McQuillin A, Meier S, Melle I, Meng F, Pb, Mitchell, Gw, Montgomery, Moran J, Morken G, Dw, Morris, Moskvina V, Muglia P, Tw, Mühleisen, Wj, Muir, Müller-Myhsok B, Rm, Myers, Cm, Nievergelt, Nikolov I, Nimgaonkar V, Mm, Nöthen, Ji, Nurnberger, Ea, Nwulia, O'Dushlaine C, Osby U, Óskarsson H, Mj, Owen, Petursson H, Bs, Pickard, Porgeirsson P, Jb, Potash, Propping P, Sm, Purcell, Quinn E, Raychaudhuri S, Rice J, Rietschel M, Ruderfer D, Schalling M, Af, Schatzberg, Wa, Scheftner, Pr, Schofield, Tg, Schulze, Schumacher J, Mm, Schwarz, Scolnick E, Lj, Scott, Pd, Shilling, Sigurdsson E, Sklar P, En, Smith, Stefansson H, Stefansson K, Steffens M, Steinberg S, Strauss J, Strohmaier J, Szelinger S, Rc, Thompson, Tozzi F, Treutlein J, Jb, Vincent, Sj, Watson, Tf, Wienker, Williamson R, Sh, Witt, Wright A, Xu W, Ah, Young, Pp, Zandi, Zhang P, Zöllner S, Agartz I, Albus M, Alexander M, Rl, Amdur, Amin F, Bitter I, Dw, Black, Ad, Børglum, Ma, Brown, Bruggeman R, Ng, Buccola, Wf, Byerley, Cahn W, Rm, Cantor, Vj, Carr, Sv, Catts, Choudhury K, Cloninger C, Cormican P, Pa, Danoy, Datta S, DeHert M, Demontis D, Dikeos D, Donnelly P, Donohoe G, Duong L, Dwyer S, Fanous A, Fink-Jensen A, Freedman R, Nb, Freimer, Friedl M, Georgieva L, Giegling I, Glenthøj B, Godard S, Golimbet V, de Haan L, Hansen M, Hansen T, Am, Hartmann, Fa, Henskens, Dm, Hougaard, Ingason A, Av, Jablensky, Kd, Jakobsen, Jay M, Eg, Jönsson, Jürgens G, Rs, Kahn, Mc, Keller, Ks, Kendler, Kenis G, Kenny E, Konnerth H, Konte B, Krabbendam L, Krasucki R, Vk, Lasseter, Laurent C, Lencz T, Lerer F, Ky, Liang, Ja, Lieberman, Dh, Linszen, Lönnqvist J, Cm, Loughland, Aw, Maclean, Bs, Maher, Ak, Malhotra, Mallet J, Malloy P, Jj, Mcgrath, McLean DE, Pt, Michie, Milanova V, Mors O, Pb, Mortensen, Bj, Mowry, Myin-Germeys I, Neale B, Da, Nertney, Nestadt G, Nielsen J, Nordentoft M, Norton N, O'Neill F, Olincy A, Olsen L, Ra, Ophoff, Tf, Ørntoft, van Os J, Pantelis C, Papadimitriou G, Cn, Pato, Mt, Pato, Peltonen L, Pickard B, Op, Pietiläinen, Pimm J, Ae, Pulver, Puri V, Digby Quested, Hb, Rasmussen, Jm, Réthelyi, Ribble R, Bp, Riley, Rossin L, Ruggeri M, Rujescu D, Schall U, Sg, Schwab, Rj, Scott, Jm, Silverman, Cc, Spencer, Strange A, Strengman E, Stroup T, Suvisaari J, Terenius L, Thirumalai S, Timm S, Toncheva D, Tosato S, Ej, Den Oord, Veldink J, Pm, Visscher, Walsh D, Ag, Wang, Werge T, Wiersma D, Db, Wildenauer, Hj, Williams, Nm, Williams, van Winkel R, Wormley B., Biological Psychology, Functional Genomics, Educational Neuroscience, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, LEARN! - Social cognition and learning, Biophotonics and Medical Imaging, LEARN! - Brain, learning and development, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, EMGO+ - Mental Health, Neuroscience Campus Amsterdam - Brain Imaging Technology, LaserLaB - Biophotonics and Microscopy, ANS - Amsterdam Neuroscience, Adult Psychiatry, Psychiatry, Human genetics, Epidemiology and Data Science, NCA - Brain mechanisms in health and disease, NCA - Neurobiology of mental health, EMGO - Mental health, NCA - Brain imaging technology, Psychiatrie & Neuropsychologie, RS: MHeNs School for Mental Health and Neuroscience, Gibson, Greg, Germeys, Inez, van Winkel, Ruud, and De Hert, Marc
Subjects: False discovery rate, Netherlands Twin Register (NTR), Cancer Research, Linkage disequilibrium, Genome-wide association study, Linkage Disequilibrium, 0302 clinical medicine, 2.1 Biological and endogenous factors, Aetiology, Genetics (clinical), Genetics, 0303 health sciences, Statistics, Genomics, Single Nucleotide, Genome Scans, Tobacco and Genetics Consortium, Functional Genomics, Phenotype, complex trait, Research Article, Bipolar Disorder Psychiatric Genomics Consortium, lcsh:QH426-470, SNP, Single-nucleotide polymorphism, Computational biology, Biostatistics, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, "genome-wide association study", Genome Analysis Tools, Clinical Research, Schizophrenia Psychiatric Genomics Consortium, Genome-Wide Association Studies, Humans, Genetic Predisposition to Disease, Statistical Methods, Polymorphism, Molecular Biology, Genetic Association Studies, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Genetic association, Linkage (software), Human Genome, Computational Biology, Human Genetics, Heritability, R1, schizophrenia, lcsh:Genetics, Schizophrenia, Mathematics, 030217 neurology & neurosurgery, Genome-Wide Association Study, Developmental Biology
Abstract: Recent results indicate that genome-wide association studies (GWAS) have the potential to explain much of the heritability of common complex phenotypes, but methods are lacking to reliably identify the remaining associated single nucleotide polymorphisms (SNPs). We applied stratified False Discovery Rate (sFDR) methods to leverage genic enrichment in GWAS summary statistics data to uncover new loci likely to replicate in independent samples. Specifically, we use linkage disequilibrium-weighted annotations for each SNP in combination with nominal p-values to estimate the True Discovery Rate (TDR = 1−FDR) for strata determined by different genic categories. We show a consistent pattern of enrichment of polygenic effects in specific annotation categories across diverse phenotypes, with the greatest enrichment for SNPs tagging regulatory and coding genic elements, little enrichment in introns, and negative enrichment for intergenic SNPs. Stratified enrichment directly leads to increased TDR for a given p-value, mirrored by increased replication rates in independent samples. We show this in independent Crohn's disease GWAS, where we find a hundredfold variation in replication rate across genic categories. Applying a well-established sFDR methodology we demonstrate the utility of stratification for improving power of GWAS in complex phenotypes, with increased rejection rates from 20% in height to 300% in schizophrenia with traditional FDR and sFDR both fixed at 0.05. Our analyses demonstrate an inherent stratification among GWAS SNPs with important conceptual implications that can be leveraged by statistical methods to improve the discovery of loci., Author Summary Modern genome-wide association studies (GWAS) have failed to identify large portions of the genetic basis of common, complex traits. Recent work suggested this could be because many genetic variants, each with individually small effects, compose their genetic architecture, limiting the power of GWAS. Moreover, these variants appear more abundantly in and near genes. Using genome annotations, summary statistics from several of the largest GWAS, and established statistical methods for quantifying distributions of test statistics, we show a consistency across studies. Namely, we show that, across all assessed traits, the test statistics resulting from SNPs that are related to the 5′ UTR of genes show the largest abundance of associations, while SNPs related to exons and the 3′UTR are also enriched. SNPs related to introns are only moderately enriched, and intergenic SNPs show a depletion of associations relative to the average SNP. This enrichment corresponds directly to increased replication across independent samples and can be incorporated a priori into statistical methods to improve discovery and prediction. Our results contribute to on-going debates about the functional nature of the genetic architecture of complex traits and point to avenues for leveraging existing GWAS data for discovery in future GWA and sequencing studies.
Published: 2013
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77. Epidemiologie mírné kognitivní poruchy.

Author: Janoutová, J., Ambroz, P., Kovaľová, M., Machaczka, O., Němček, K., Zatloukalová, A., Mrázková, E., Košta, O., Hálová, A., Hosák, L., and Janout, V.
Abstract: Copyright of Česká a Slovenská Neurologie a Neurochirurgie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Published: 2018
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78. Optoelektronické skenování jako nástroj pro měření antropometrických rozměrů dolních končetin.

Author: Machaczka, O., Homza, M., Polievka, P., Zatloukalová, A., Janoutová, J., and Janout, V.
Abstract: Copyright of General Practitioner / Praktický Lékař is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Published: 2018

79. Srovnání ankle brachial indexu s ultrasonografickým vyšetřením tepen dolních končetin u diabetiků.

Author: Machaczka, O., Homza, M., Janoutová, J., Zatloukalová, A., and Janout, V.
Abstract: Copyright of General Practitioner / Praktický Lékař is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Published: 2018

80. Using Prior Information from the Medical Literature in\ud GWAS of Oral Cancer Identifies Novel Susceptibility\ud Variant on Chromosome 4 - the AdAPT Method

Author: Johansson, M., Roberts, A., Chen, D., Li, Y., Delahaye-Sourdeix, M., Aswani, N., Greenwood, M.A., Benhamou, S., Lagiou, P., Holcatova, I., Richiardi, L., Kjaerheim, K., Agudo, A., Castellsague, X., Macfarlane, T.V., Barzan, L., Canova, C., Thakker, N.S., Conway, D.I., Znaor, A., Healy, C.M., Ahrens, W., Zaridze, D., Szeszenia-Dabrowska, N., Lissowska, J., Fabianova, E., Mates, I.N., Bencko, V., Foretova, L., Janout, V., Curado, M.P., Koifman, S., Menezes, A., Wuensch-Filho, V., Eluf-Neto, J., Boffetta, P., Franceschi, S., Herrero, R., Fernandez Garrote, L., Talamini, R., Boccia, S., Galan, P., Vatten, L., Thomson, P., Zelenika, D., Lathrop, M., Byrnes, G., Cunningham, H., Brennan, P., Wakefield, J., and Mckay, J.D.
Abstract: Background: Genome-wide association studies (GWAS) require large sample sizes to obtain adequate statistical power, but\ud it may be possible to increase the power by incorporating complementary data. In this study we investigated the feasibility\ud of automatically retrieving information from the medical literature and leveraging this information in GWAS.\ud Methods: We developed a method that searches through PubMed abstracts for pre-assigned keywords and key concepts,\ud and uses this information to assign prior probabilities of association for each single nucleotide polymorphism (SNP) with the\ud phenotype of interest - the Adjusting Association Priors with Text (AdAPT) method. Association results from a GWAS can\ud subsequently be ranked in the context of these priors using the Bayes False Discovery Probability (BFDP) framework. We\ud initially tested AdAPT by comparing rankings of known susceptibility alleles in a previous lung cancer GWAS, and\ud subsequently applied it in a two-phase GWAS of oral cancer.\ud Results: Known lung cancer susceptibility SNPs were consistently ranked higher by AdAPT BFDPs than by p-values. In the\ud oral cancer GWAS, we sought to replicate the top five SNPs as ranked by AdAPT BFDPs, of which rs991316, located in the\ud ADH gene region of 4q23, displayed a statistically significant association with oral cancer risk in the replication phase (perrare-allele\ud log additive p-value [ptrend] = 2.561023\ud ). The combined OR for having one additional rare allele was 0.83 (95% CI:\ud 0.76–0.90), and this association was independent of previously identified susceptibility SNPs that are associated with overall\ud UADT cancer in this gene region. We also investigated if rs991316 was associated with other cancers of the upper\ud aerodigestive tract (UADT), but no additional association signal was found.\ud Conclusion: This study highlights the potential utility of systematically incorporating prior knowledge from the medical\ud literature in genome-wide analyses using the AdAPT methodology. AdAPT is available online (url: http://services.gate.ac.uk/\ud lld/gwas/service/config).
Published: 2012

81. A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium

Author: Horwitz, M.S., McKay, J.D., Truong, T., Gaborieau, V., Chabrier, A., Chuang, S.-C., Byrnes, G., Zaridze, D., Shangina, O., Szeszenia-Dabrowska, N., Lissowska, J., Rudnai, P., Fabianova, E., Bucur, A., Bencko, V., Holcatova, I., Janout, V., Foretova, L., Lagiou, P., Trichopoulos, D., Benhamou, S., Bouchardy, C., Ahrens, W., Merletti, F., Richiardi, L., Talamini, R., Barzan, L., Kjaerheim, K., Macfarlane, G.J., Macfarlane, T.V., Simonato, L., Canova, C., Agudo, A., Castellsagué, X., Lowry, R., Conway, D.I., McKinney, P.A., Healy, C.M., Toner, M.E., Znaor, A., Curado, M.P., Koifman, S., Menezes, A., Wünsch-Filho, V., Neto, J.E., Garrote, L.F., Boccia, S., Cadoni, G., Arzani, D., Olshan, A.F., Weissler, M.C., Funkhouser, W.K., Luo, J., Lubiński, J., Trubicka, J., Lener, M., Oszutowska, D., Schwartz, S.M., Chen, C., Fish, S., Doody, D.R., Muscat, J.E., Lazarus, P., Gallagher, C.J., Chang, S.C., Zhang, Z.F., Wei, Q., Sturgis, E.M., Wang, L.E., Franceschi, S., Herrero, R., Kelsey, K.T., McClean, M.D., Marsit, C.J., Nelson, H.H., Romkes, M., Buch, S., Nukui, T., Zhong, S., Lacko, M., Manni, J.J., Peters, W.H.M., Hung, R.J., McLaughlin, J., Vatten, L., Njølstad, I., Goodman, G.E., Field, J.K., Liloglou, T., Vineis, P., Clavel-Chapelon, F., Palli, D., Tumino, R., Krogh, V., Panico, S., González, C.A., Quirós, J.R., Martínez, C., Navarro, C., Ardanaz, E., Larrañaga, N., Khaw, K.T., Key, T., Bueno-de-Mesquita, H. B., Peeters, P.H.M., Trichopoulou, A., Linseisen, J., Boeing, H., Hallmans, G., Overvad, K., Tjønneland, A., Kumle, M., Riboli, E., Välk, K., Vooder, T., Metspalu, A., Zelenika, D., Boland, A., Delepine, M., Foglio, M., Lechner, D., Blanché, H., Gut, I.G., Galan, P., Heath, S., Hashibe, M., Hayes, R.B., Boffetta, P., Lathrop, M., and Brennan, P.
Abstract: Genome-wide association studies (GWAS) have been successful in identifying common genetic variation involved in susceptibility to etiologically complex disease. We conducted a GWAS to identify common genetic variation involved in susceptibility to upper aero-digestive tract (UADT) cancers. Genome-wide genotyping was carried out using the Illumina HumanHap300 beadchips in 2,091 UADT cancer cases and 3,513 controls from two large European multi-centre UADT cancer studies, as well as 4,821 generic controls. The 19 top-ranked variants were investigated further in an additional 6,514 UADT cancer cases and 7,892 controls of European descent from an additional 13 UADT cancer studies participating in the INHANCE consortium. Five common variants presented evidence for significant association in the combined analysis (p≤5×10−7). Two novel variants were identified, a 4q21 variant (rs1494961, p = 1×10−8) located near DNA repair related genes HEL308 and FAM175A (or Abraxas) and a 12q24 variant (rs4767364, p = 2×10−8) located in an extended linkage disequilibrium region that contains multiple genes including the aldehyde dehydrogenase 2 (ALDH2) gene. Three remaining variants are located in the ADH gene cluster and were identified previously in a candidate gene study involving some of these samples. The association between these three variants and UADT cancers was independently replicated in 5,092 UADT cancer cases and 6,794 controls non-overlapping samples presented here (rs1573496-ADH7, p = 5×10−8; rs1229984-ADH1B, p = 7×10−9; and rs698-ADH1C, p = 0.02). These results implicate two variants at 4q21 and 12q24 and further highlight three ADH variants in UADT cancer susceptibility.
Published: 2011

82. A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium

Author: McKay, J.D., Truong, T., Gaborieau, V., Chabrier, A., Chuang, S.C., Byrnes, G., Zaridze, D., Shangina, O., Szeszenia-Dabrowska, N., Lissowska, J., Rudnai, P., Fabianova, E., Bucur, A., Bencko, V., Holcatova, I., Janout, V., Foretova, L., Lagiou, P., Trichopoulos, D., Benhamou, S., Bouchardy, C., Ahrens, W., Merletti, F., Richiardi, L., Talamini, R., Barzan, L., Kjaerheim, K., Macfarlane, G.J., Macfarlane, T.V., Simonato, L., Canova, C., Agudo, A., Castellsague, X., Lowry, R., Conway, D.I., McKinney, P.A., Healy, C.M., Toner, M.E., Znaor, A., Curado, M.P., Koifman, S., Menezes, A., Wunsch-Filho, V., Neto, J.E., Garrote, L.F., Boccia, S., Cadoni, G., Arzani, D., Olshan, A.F., Weissler, M.C., Funkhouser, W.K., Luo, J., Lubinski, J., Trubicka, J., Lener, M., Oszutowska, D., Schwartz, S.M., Chen, C., Fish, S., Doody, D.R., Muscat, J.E., Lazarus, P., Gallagher, C.J., Chang, S.C., Zhang, Z.F., Wei, Q., Sturgis, E.M., Wang, L.E., Franceschi, S., Herrero, R., Kelsey, K.T., McClean, M.D., Marsit, C.J., Nelson, H.H., Romkes, M., Buch, S., Nukui, T., Zhong, S., Lacko, M., Manni, J.J., Peters, W.H.M., Hung, R.J., McLaughlin, J., Vatten, L., Njolstad, I., Goodman, G.E., Field, J.K., Liloglou, T., Vineis, P., Clavel-Chapelon, F., Palli, D., Tumino, R., Krogh, V., Panico, S., Gonzalez, C.A., Quiros, J.R., Martinez, C., Navarro, C, Ardanaz, E., and Larrañaga, N.
Abstract: Genome-wide association studies (GWAS) have been successful in identifying common genetic variation involved in susceptibility to etiologically complex disease. We conducted a GWAS to identify common genetic variation involved in susceptibility to upper aero-digestive tract (UADT) cancers. Genome-wide genotyping was carried out using the Illumina HumanHap300 beadchips in 2,091 UADT cancer cases and 3,513 controls from two large European multi-centre UADT cancer studies, as well as 4,821 generic controls. The 19 top-ranked variants were investigated further in an additional 6,514 UADT cancer cases and 7,892 controls of European descent from an additional 13 UADT cancer studies participating in the INHANCE consortium. Five common variants presented evidence for significant association in the combined analysis (p
Published: 2011

83. A sex-specific association between a 15q25 variant and upper aerodigestive tract cancers

Author: Chen, D. Truong, T. Gaborieau, V. Byrnes, G. Chabrier, A. Chuang, S.-C. Olshan, A.F. Weissler, M.C. Luo, J. Romkes, M. Buch, S. Nukui, T. Franceschi, S. Herrero, R. Talamini, R. Kelsey, K.T. Christensen, B. McClean, M.D. Lacko, M. Manni, J.J. Peters, W.H.M. Lubiński, J. Trubicka, J. Lener, M. Muscat, J.E. Lazarus, P. Wei, Q. Sturgis, E.M. Zhang, Z.-F. Chang, S.-C. Wang, R. Schwartz, S.M. Chen, C. Benhamou, S. Lagiou, P. Holcátová, I. Richiardi, L. Kjaerheim, K. Agudo, A. Castellsagué, X. Macfarlane, T.V. Barzan, L. Canova, C. Thakker, N.S. Conway, D.I. Znaor, A. Healy, C.M. Ahrens, W. Zaridze, D. Szeszenia-Dabrowska, N. Lissowska, J. Fabianova, E. Bucur, A. Bencko, V. Foretova, L. Janout, V. Curado, M.P. Koifman, S. Menezes, A. Wünsch-Filho, V. Eluf-Neto, J. Fernandez, L. Boccia, S. Hashibe, M. Hayes, R.B. Boffetta, P. Brennan, P. McKay, J.D.
Abstract: Background: Sequence variants located at 15q25 have been associated with lung cancer and propensity to smoke. We recently reported an association between rs16969968 and risk of upper aerodigestive tract (UADT) cancers (oral cavity, oropharynx, hypopharynx, larynx, and esophagus) in women (OR = 1.24, P = 0.003) with little effect in men (OR = 1.04, P = 0.35). Methods: In a coordinated genotyping study within the International Head and Neck Cancer Epidemiology (INHANCE) consortium, we have sought to replicate these findings in an additional 4,604 cases and 6,239 controls from 10 independent UADT cancer case - control studies. Results: rs16969968 was again associated with UADT cancers in women (OR = 1.21, 95% CI = 1.08-1.36, P = 0.001) and a similar lack of observed effect in men [OR = 1.02, 95% CI = 0.95-1.09, P = 0.66; P-heterogeneity (P het) = 0.01]. In a pooled analysis of the original and current studies, totaling 8,572 UADT cancer cases and 11,558 controls, the association was observed among females (OR = 1.22, 95% CI = 1.12-1.34, P = 7 × 10 -6) but not males (OR = 1.02, 95% CI = 0.97-1.08, P = 0.35; P het = 6 × 10-4). There was little evidence for a sex difference in the association between this variant and cigarettes smoked per day, with male and female rs16969968 variant carriers smoking approximately the same amount more in the 11,991 ever smokers in the pooled analysis of the 14 studies (Phet = 0.86). Conclusions: This study has confirmed a sex difference in the association between the 15q25 variant rs16969968 and UADT cancers. Impact: Further research is warranted to elucidate the mechanisms underlying these observations.©2011 AACR.
Published: 2011

84. A systematic investigation of the contribution of genetic variation within the MHC region to HPV seropositivity

Author: Chen, D., primary, Gaborieau, V., additional, Zhao, Y., additional, Chabrier, A., additional, Wang, H., additional, Waterboer, T., additional, Zaridze, D., additional, Lissowska, J., additional, Rudnai, P., additional, Fabianova, E., additional, Bencko, V., additional, Janout, V., additional, Foretova, L., additional, Mates, I. N., additional, Szeszenia-Dabrowska, N., additional, Boffetta, P., additional, Pawlita, M., additional, Lathrop, M., additional, Gyllensten, U., additional, Brennan, P., additional, and McKay, J. D., additional
Published: 2015
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85. Lung cancer susceptibility locus at 5p15.33

Author: McKay, J.D. Hung, R.J. Gaborieau, V. Boffetta, P. Chabrier, A. Byrnes, G. Zaridze, D. Mukeria, A. Szeszenia-Dabrowska, N. Lissowska, J. Rudnai, P. Fabianova, E. Mates, D. Bencko, V. Foretova, L. Janout, V. McLaughlin, J. Shepherd, F. Montpetit, A. Narod, S. Krokan, H.E. Skorpen, F. Elvestad, M.B. Vatten, L. Njølstad, I. Axelsson, T. Chen, C. Goodman, G. Barnett, M. Loomis, M.M. Lubĩski, J. Matyjasik, J. Lener, M. Oszutowska, D. Field, J. Liloglou, T. Xinarianos, G. Cassidy, A. Zelenika, D. Boland, A. Delepine, M. Foglio, M. Lechner, D. Matsuda, F. Blanche, H. Gut, I. Heath, S. Lathrop, M. Brennan, P. Vineis, P. Clavel-Chapelon, F. Palli, D. Tumino, R. Krogh, V. Panico, S. González, C.A. Ramón Quirós, J. Martínez, C. Navarro, C. Ardanaz, E. Larrãaga, N. Kham, K.T. Key, T. Bueno-De-Mesquita, H.B. Peeters, P.H.M. Trichopoulou, A. Linseisen, J. Boeing, H. Hallmans, G. Overvad, K. Tjønneland, A. Kumle, M. Riboli, E.
Abstract: We carried out a genome-wide association study of lung cancer (3,259 cases and 4,159 controls), followed by replication in 2,899 cases and 5,573 controls. Two uncorrelated disease markers at 5p15.33, rs402710 and rs2736100 were detected by the genome-wide data (P = 2 × 10-7 and P = 4 × 10-6) and replicated by the independent study series (P = 7 × 10-5 and P = 0.016). The susceptibility region contains two genes, TERT and CLPTM1L, suggesting that one or both may have a role in lung cancer etiology. © 2008 Nature Publishing Group.
Published: 2008

86. Multiple ADH genes are associated with upper aerodigestive cancers

Author: Hashibe, M., McKay, J.D., Curado, M.P., Oliveira, J.C., Koifman, S., Koifman, R., Zaridze, D., Shangina, O., Wünsch-Filho, V., Eluf-Neto, J., Levi, J.E., Matos, E., Lagiou, P., Lagiou, E., Benhamou, S., Bouchardy, C., Szeszenia-Dabrowska, N., Menezes, A., Dall&#8217, Agnol, M.M., Merletti, F., Richiardi, L., Fernandez, L., Lence, J., Talamini, R., Barzan, L., Mates, D., Mates, I.N., Kjaerheim, K., Macfarlane, G.J., Macfarlane, T.V., Simonato, L., Canova, C., Holcatova, I., Agudo, A., Castellsague, X., Lowry, R., Janout, V., Kollarova, H., Conway, D.I., McKinney, P.A., Znaor, Ariana, Fabianova, E., Bencko, V., Lissowska, J., Chabrier, A., Hung, R.J., Gaborieau, V., Boffetta, P., and Brennan, P.
Subjects: ADH genes, upper aerodigestive cancers
Abstract: Alcohol is an important risk factor for upper aerodigestive cancers and is principally metabolized by alcohol dehydrogenase (ADH) enzymes. We have investigated six ADH genetic variants in over 3, 800 aerodigestive cancer cases and 5, 200 controls from three individual studies. Gene variants rs1229984 (ADH1B) and rs1573496 (ADH7) were significantly protective against aerodigestive cancer in each individual study and overall (P = 10(-10) and 10(-9), respectively). These effects became more apparent with increasing alcohol consumption (P for trend = 0.0002 and 0.065, respectively). Both gene effects were independent of each other, implying that multiple ADH genes may be involved in upper aerodigestive cancer etiology.
Published: 2008

87. Development of lung cancer before the age of 50: the role of xenobiotic metabolizing genes. Carcinogenesis

Author: Gemignani, Federica, Landi, Stefano, SZESZENIA DABROWSKA, N, Zaridze, D, Lissowska, J, Rudnai, P, Fabianova, E, Mates, D, Foretova, L, Janout, V, Bencko, V, Gaborieau, V, GIOIA PATRICOLA, L, Bellini, I, Barale, Roberto, Canzian, F, Hall, J, Boffetta, P, Hung, Rj, and Brennan, P.
Published: 2007

88. Studie nových antikoagulancií -- dílčí výsledky.

Author: ZATLOUKALOVÁ, A., JANOUTOVÁ, J., HOMZA, M., FEDIČOVÁ, M., and JANOUT, V.
Abstract: Copyright of General Practitioner / Praktický Lékař is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Published: 2017

89. Uzlinový syndrom u nemoci z kočičího škrábnutí u dětí ošetřených na Klinice infekčního lékařství v Ostravě.

Author: Hozáková, L., Rožnovský, L., and Janout, V.
Abstract: Copyright of Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Published: 2017

90. Effect of cruciferous vegetables on lung cancer in patients stratified by genetic status: a mendelian randomisation approach. Lancet. 2005 Oct 29-Nov 4;366(9496):1558-60

Author: Brennan, P, Hsu, Cc, Moullan, N, SZESZENIA DABROWSKA, N, Lissowska, J, Zaridze, D, Rudnai, P, Fabianova, E, Mates, D, Bencko, V, Foretova, L, Janout, V, Gemignani, Federica, Chabrier, A, Hall, J, Hung, Rj, Boffetta, P, and Canzian, F.
Published: 2005

91. Is physical activity a protective factor against pancreatic cancer?

Author: Kollarova, H., primary, Azeem, K., additional, Tomaskova, H., additional, Horakova, D., additional, Prochazka, V., additional, Martinek, A., additional, Shonova, O., additional, Sevcikova, J., additional, Sevcikova, V., additional, and Janout, V., additional
Published: 2014
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92. A common biological basis of obesity and nicotine addiction

Author: Thorgeirsson, T.E. (Thorgeir), Gudbjartsson, D.F. (Daniel), Sulem, P. (Patrick), Besenbacher, S. (Søren), Styrkarsdottir, U. (Unnur), Thorleifsson, G. (Gudmar), Walters, G.B. (Bragi), Furberg, H. (Helena), Sullivan, P. (Patrick), Marchini, J. (Jonathan), McCarthy, M.I. (M.), Steinthorsdottir, V. (Valgerdur), Thorsteinsdottir, U. (Unnur), Zwart, J-A. (John-Anker), Surakka, I. (Ida), Vink, J.M. (Jacqueline), Amin, N. (Najaf), Geller, F. (Frank), Rafnar, T. (Thorunn), Esko, T. (Tõnu), Walter, S. (Stefan), Gieger, C. (Christian), Rawal, R. (Rajesh), Mangino, M. (Massimo), Prokopenko, I. (Inga), Mägi, R. (Reedik), Keskitalo, K. (Kaisu), Gudjonsdottir, I.H. (Iris), Gretarsdottir, S. (Solveig), Stefansson, H. (Hreinn), Aulchenko, Y.S. (Yurii), Nelis, M. (Mari), Aben, K.K.H. (Katja), Heijer, M. (Martin) den, Soranzo, N. (Nicole), Valdes, A.M. (Ana Maria), Steves, C.J. (Claire), Uitterlinden, A.G. (André), Hofman, A. (Albert), Tönjes, A. (Anke), Kovacs, P. (Peter), Hottenga, J.J. (Jouke Jan), Willemsen, G.A.H.M. (Gonneke), Vogelzangs, N. (Nicole), Döring, A. (Angela), Dahmen, N. (N.), Nitz, B. (Barbara), Ripatti, S. (Samuli), Perola, M. (Markus), Kettunen, J. (Johannes), Hartikainen, A.L., Pouta, A. (Anneli), Laitinen, J. (Jaana), Isohanni, M.K. (Matti), Huei-Yi, S. (Shen), Allen, M. (Maxine), Krestyaninova, M. (Maria), Hall, A. (Anne), Thompson, J.R. (John), Oskarsson, H. (Hogni), Tyrfingsson, T. (Thorarinn), Kiemeney, L.A.L.M. (Bart), Jarvelin, M.-R. (Marjo-Riitta), Salomaa, V. (Veikko), Stumvoll, M. (Michael), Spector, T.D. (Timothy), Wichmann, H.E. (Heinz Erich), Metspalu, A. (Andres), Samani, N.J. (Nilesh), Penninx, B.W.J.H. (Brenda), Oostra, B.A. (Ben), Boomsma, D.I. (Dorret), Tiemeier, H.W. (Henning), Duijn, C.M. (Cornelia) van, Kaprio, J. (Jaakko), Gulcher, J.R. (Jeffrey), Kim, Y. (Yunjung), Dackor, J. (Jennifer), Boerwinkle, E.A. (Eric), Franceschini, N. (Nora), Ardissino, D. (Diego), Bernardinelli, L. (Luisa), Mannucci, P.M. (Pier), Mauri, F. (Francesco), Merlini, P.A. (Piera), Absher, D. (Devin), Assimes, T.L. (Themistocles), Fortmann, S.P. (Stephen), Iribarren, C. (Carlos), Knowles, J.W. (Joshua), Quertermous, T. (Thomas), Ferrucci, L. (Luigi), Tanaka, T. (Toshiko), Bis, J.C. (Joshua), Haritunians, T. (Talin), McKnight, B. (Barbara), Psaty, B.M. (Bruce), Taylor, K.D. (Kent), Thacker, E.L. (Evan), Almgren, P. (Peter), Groop, L. (Leif), Ladenvall, C. (Claes), Boehnke, M. (Michael), Jackson, A.U. (Anne), Mohlke, K.L. (Karen), Stringham, H.M. (Heather), Tuomilehto, J. (Jaakko), Benjamin, E.J. (Emelia), Hwang, S.J., Levy, D. (Daniel), Preis, S.R., Vasan, R.S. (Ramachandran Srini), Duan, J. (Jubao), Gejman, P.V. (Pablo), Levinson, D.F. (Douglas), Sanders, A.R. (Alan), Shi, J. (Jianxin), Lips, E.H. (Esther), McKay, J.D. (James), Agudo, A. (Antonio), Barzan, L. (Luigi), Bencko, V. (Vladimir), Benhamou, S. (Simone), Castellsagué, X. (Xavier), Canova, C. (Cristina), Conway, D.I. (David), Fabianova, E. (Eleonora), Foretova, L. (Lenka), Janout, V. (Vladimir), Healy, C.M. (Claire), Holcátová, I. (Ivana), Kjaerheim, K. (Kristina), Lagiou, P., Lissowska, J. (Jolanta), Lowry, R. (Ray), MacFarlane, T.V. (Tatiana), Mates, D. (Dana), Richiardi, L. (Lorenzo), Rudnai, P. (Peter), Szeszenia-Dabrowska, N. (Neonilia), Zaridze, D., Znaor, A. (Ariana), Lathrop, M. (Mark), Brennan, P. (Paul), Bandinelli, S. (Stefania), Frayling, T.M. (Timothy), Guralnik, J.M. (Jack), Milaneschi, Y. (Yuri), Perry, J.R.B. (John), Altshuler, D. (David), Elosua, R. (Roberto), Kathiresan, S. (Sekar), Lucas, G. (Gavin), Melander, O. (Olle), O'Donnell, C.J. (Christopher), Schwartz, S.M. (Stephen), Voight, B.F. (Benjamin), Smith, A.V. (Davey), Geus, E.J.C. (Eco) de, Chanock, S.J. (Stephen), Gu, F. (Fangyi), Hankinson, S.E. (Susan), Hunter, D. (David), Chasman, D.I. (Daniel), Everett, B.M. (Brendan), Paré, G. (Guillaume), Ridker, P.M. (Paul), Li, M.D. (Ming), Maes, H.H. (Hermine), Audrain-Mcgovern, J. (Janet), Posthuma, D. (Danielle), Thornton, L.M. (Laura), Lerman, C. (Caryn), Rose, J.E. (Jed), Ioannidis, J.P.A. (John), Kraft, P. (Peter), Lin, D.Y. (Dan), Liu, J. (Jason), Muglia, P. (Pierandrea), Waterworth, D. (Dawn), Pillai, A.D. (Ajay), Middleton, L. (Lefkos), Berrettini, W. (Wade), Knouff, C.W. (Christopher), Yuan, X. (Xin), Waeber, G. (Gérard), Vollenweider, P. (Peter), Preisig, M. (Martin), Wareham, N.J. (Nick), Zhao, J.H. (Jing Hua), Loos, R.J.F. (Ruth), Barroso, I.E. (Inês), Khaw, K-T. (Kay-Tee), Grundy, S.M. (Scott), Barter, P. (Phil), Mahley, R. (Robert), Kesaniemi, Y.A. (Antero), McPherson, R. (Ruth), Vincent, J. (John), Strauss, J.S. (John S), Kennedy, J. (James), Farmer, A.E. (Anne E), Mcguffin, P. (Peter), Day, R.N. (Richard), Matthews, K. (Keith), Bakke, A.B. (Arnold B.), Gulsvik, A. (Amund), Lucae, S. (Susanne), Ising, M. (Marcus), Brueckl, T. (Tanja), Horstmann, S. (Sonja), Heinrich, J. (Joachim), Lamina, C. (Claudia), Polasek, O. (Ozren), Zgaga, L. (Lina), Huffman, J.E. (Jennifer), Campbell, S. (Susan), Kooner, J.S. (Jaspal), Chambers, J.C. (John), Burnett, M.S., Devaney, J. (Joseph), Pichard, A.D., Kent, K.M. (Kenneth), Satler, L.F., Lindsay, J.M. (Joseph), Waksman, R. (Ron), Epstein, S.E. (Stephen), Wilson, J.F. (James), Wild, S.H. (Sarah), Campbell, H. (Harry), Vitart, V. (Veronique), Reilly, M.P. (Muredach), Li, M. (Mingyao), Qu, L. (Liming), Wilensky, A. (Asaf), Matthai, W. (William), Hakonarson, H. (Hakon), Rader, D.J. (Daniel), Franke, A. (Andre), Wittig, M. (Michael), Schäfer, A. (Arne), Uda, M. (Manuela), Terracciano, A., Xiao, X. (Xiangjun), Busonero, F., Scheet, P. (Paul), Schlessinger, D., Clair, D.S., Rujescu, D. (Dan), Abecasis, G.R. (Gonçalo), Grabe, H.J. (Hans Jörgen), Teumer, A. (Alexander), Völzke, H. (Henry), Petersmann, A. (Astrid), John, U. (Ulrich), Rudan, I. (Igor), Hayward, C. (Caroline), Wright, A.F. (Alan), Kolcic, I. (Ivana), Wright, B.J. (Benjamin), Balmforth, A.J. (Anthony), Anderson, C. (Carl), Ahmed, T. (Tariq), Mathew, J. (Joseph), Parkes, M. (Miles), Satsangi, J. (Jack), Caulfield, M. (Mark), Munroe, P. (Patricia), Farrall, M. (Martin), Dominiczak, A. (Anna), Worthington, H. (Helen), Thomson, W. (Wendy), Eyre, D.S. (Dylan Samuel), Barton, A. (Anne), Mooser, V. (Vincent), Francks, C. (Clyde), Thorgeirsson, T.E. (Thorgeir), Gudbjartsson, D.F. (Daniel), Sulem, P. (Patrick), Besenbacher, S. (Søren), Styrkarsdottir, U. (Unnur), Thorleifsson, G. (Gudmar), Walters, G.B. (Bragi), Furberg, H. (Helena), Sullivan, P. (Patrick), Marchini, J. (Jonathan), McCarthy, M.I. (M.), Steinthorsdottir, V. (Valgerdur), Thorsteinsdottir, U. (Unnur), Zwart, J-A. (John-Anker), Surakka, I. (Ida), Vink, J.M. (Jacqueline), Amin, N. (Najaf), Geller, F. (Frank), Rafnar, T. (Thorunn), Esko, T. (Tõnu), Walter, S. (Stefan), Gieger, C. (Christian), Rawal, R. (Rajesh), Mangino, M. (Massimo), Prokopenko, I. (Inga), Mägi, R. (Reedik), Keskitalo, K. (Kaisu), Gudjonsdottir, I.H. (Iris), Gretarsdottir, S. (Solveig), Stefansson, H. (Hreinn), Aulchenko, Y.S. (Yurii), Nelis, M. (Mari), Aben, K.K.H. (Katja), Heijer, M. (Martin) den, Soranzo, N. (Nicole), Valdes, A.M. (Ana Maria), Steves, C.J. (Claire), Uitterlinden, A.G. (André), Hofman, A. (Albert), Tönjes, A. (Anke), Kovacs, P. (Peter), Hottenga, J.J. (Jouke Jan), Willemsen, G.A.H.M. (Gonneke), Vogelzangs, N. (Nicole), Döring, A. (Angela), Dahmen, N. (N.), Nitz, B. (Barbara), Ripatti, S. (Samuli), Perola, M. (Markus), Kettunen, J. (Johannes), Hartikainen, A.L., Pouta, A. (Anneli), Laitinen, J. (Jaana), Isohanni, M.K. (Matti), Huei-Yi, S. (Shen), Allen, M. (Maxine), Krestyaninova, M. (Maria), Hall, A. (Anne), Thompson, J.R. (John), Oskarsson, H. (Hogni), Tyrfingsson, T. (Thorarinn), Kiemeney, L.A.L.M. (Bart), Jarvelin, M.-R. (Marjo-Riitta), Salomaa, V. (Veikko), Stumvoll, M. (Michael), Spector, T.D. (Timothy), Wichmann, H.E. (Heinz Erich), Metspalu, A. (Andres), Samani, N.J. (Nilesh), Penninx, B.W.J.H. (Brenda), Oostra, B.A. (Ben), Boomsma, D.I. (Dorret), Tiemeier, H.W. (Henning), Duijn, C.M. (Cornelia) van, Kaprio, J. (Jaakko), Gulcher, J.R. (Jeffrey), Kim, Y. (Yunjung), Dackor, J. (Jennifer), Boerwinkle, E.A. (Eric), Franceschini, N. (Nora), Ardissino, D. (Diego), Bernardinelli, L. (Luisa), Mannucci, P.M. (Pier), Mauri, F. (Francesco), Merlini, P.A. (Piera), Absher, D. (Devin), Assimes, T.L. (Themistocles), Fortmann, S.P. (Stephen), Iribarren, C. (Carlos), Knowles, J.W. (Joshua), Quertermous, T. (Thomas), Ferrucci, L. (Luigi), Tanaka, T. (Toshiko), Bis, J.C. (Joshua), Haritunians, T. (Talin), McKnight, B. (Barbara), Psaty, B.M. (Bruce), Taylor, K.D. (Kent), Thacker, E.L. (Evan), Almgren, P. (Peter), Groop, L. (Leif), Ladenvall, C. (Claes), Boehnke, M. (Michael), Jackson, A.U. (Anne), Mohlke, K.L. (Karen), Stringham, H.M. (Heather), Tuomilehto, J. (Jaakko), Benjamin, E.J. (Emelia), Hwang, S.J., Levy, D. (Daniel), Preis, S.R., Vasan, R.S. (Ramachandran Srini), Duan, J. (Jubao), Gejman, P.V. (Pablo), Levinson, D.F. (Douglas), Sanders, A.R. (Alan), Shi, J. (Jianxin), Lips, E.H. (Esther), McKay, J.D. (James), Agudo, A. (Antonio), Barzan, L. (Luigi), Bencko, V. (Vladimir), Benhamou, S. (Simone), Castellsagué, X. (Xavier), Canova, C. (Cristina), Conway, D.I. (David), Fabianova, E. (Eleonora), Foretova, L. (Lenka), Janout, V. (Vladimir), Healy, C.M. (Claire), Holcátová, I. (Ivana), Kjaerheim, K. (Kristina), Lagiou, P., Lissowska, J. (Jolanta), Lowry, R. (Ray), MacFarlane, T.V. (Tatiana), Mates, D. (Dana), Richiardi, L. (Lorenzo), Rudnai, P. (Peter), Szeszenia-Dabrowska, N. (Neonilia), Zaridze, D., Znaor, A. (Ariana), Lathrop, M. (Mark), Brennan, P. (Paul), Bandinelli, S. (Stefania), Frayling, T.M. (Timothy), Guralnik, J.M. (Jack), Milaneschi, Y. (Yuri), Perry, J.R.B. (John), Altshuler, D. (David), Elosua, R. (Roberto), Kathiresan, S. (Sekar), Lucas, G. (Gavin), Melander, O. (Olle), O'Donnell, C.J. (Christopher), Schwartz, S.M. (Stephen), Voight, B.F. (Benjamin), Smith, A.V. (Davey), Geus, E.J.C. (Eco) de, Chanock, S.J. (Stephen), Gu, F. (Fangyi), Hankinson, S.E. (Susan), Hunter, D. (David), Chasman, D.I. (Daniel), Everett, B.M. (Brendan), Paré, G. (Guillaume), Ridker, P.M. (Paul), Li, M.D. (Ming), Maes, H.H. (Hermine), Audrain-Mcgovern, J. (Janet), Posthuma, D. (Danielle), Thornton, L.M. (Laura), Lerman, C. (Caryn), Rose, J.E. (Jed), Ioannidis, J.P.A. (John), Kraft, P. (Peter), Lin, D.Y. (Dan), Liu, J. (Jason), Muglia, P. (Pierandrea), Waterworth, D. (Dawn), Pillai, A.D. (Ajay), Middleton, L. (Lefkos), Berrettini, W. (Wade), Knouff, C.W. (Christopher), Yuan, X. (Xin), Waeber, G. (Gérard), Vollenweider, P. (Peter), Preisig, M. (Martin), Wareham, N.J. (Nick), Zhao, J.H. (Jing Hua), Loos, R.J.F. (Ruth), Barroso, I.E. (Inês), Khaw, K-T. (Kay-Tee), Grundy, S.M. (Scott), Barter, P. (Phil), Mahley, R. (Robert), Kesaniemi, Y.A. (Antero), McPherson, R. (Ruth), Vincent, J. (John), Strauss, J.S. (John S), Kennedy, J. (James), Farmer, A.E. (Anne E), Mcguffin, P. (Peter), Day, R.N. (Richard), Matthews, K. (Keith), Bakke, A.B. (Arnold B.), Gulsvik, A. (Amund), Lucae, S. (Susanne), Ising, M. (Marcus), Brueckl, T. (Tanja), Horstmann, S. (Sonja), Heinrich, J. (Joachim), Lamina, C. (Claudia), Polasek, O. (Ozren), Zgaga, L. (Lina), Huffman, J.E. (Jennifer), Campbell, S. (Susan), Kooner, J.S. (Jaspal), Chambers, J.C. (John), Burnett, M.S., Devaney, J. (Joseph), Pichard, A.D., Kent, K.M. (Kenneth), Satler, L.F., Lindsay, J.M. (Joseph), Waksman, R. (Ron), Epstein, S.E. (Stephen), Wilson, J.F. (James), Wild, S.H. (Sarah), Campbell, H. (Harry), Vitart, V. (Veronique), Reilly, M.P. (Muredach), Li, M. (Mingyao), Qu, L. (Liming), Wilensky, A. (Asaf), Matthai, W. (William), Hakonarson, H. (Hakon), Rader, D.J. (Daniel), Franke, A. (Andre), Wittig, M. (Michael), Schäfer, A. (Arne), Uda, M. (Manuela), Terracciano, A., Xiao, X. (Xiangjun), Busonero, F., Scheet, P. (Paul), Schlessinger, D., Clair, D.S., Rujescu, D. (Dan), Abecasis, G.R. (Gonçalo), Grabe, H.J. (Hans Jörgen), Teumer, A. (Alexander), Völzke, H. (Henry), Petersmann, A. (Astrid), John, U. (Ulrich), Rudan, I. (Igor), Hayward, C. (Caroline), Wright, A.F. (Alan), Kolcic, I. (Ivana), Wright, B.J. (Benjamin), Balmforth, A.J. (Anthony), Anderson, C. (Carl), Ahmed, T. (Tariq), Mathew, J. (Joseph), Parkes, M. (Miles), Satsangi, J. (Jack), Caulfield, M. (Mark), Munroe, P. (Patricia), Farrall, M. (Martin), Dominiczak, A. (Anna), Worthington, H. (Helen), Thomson, W. (Wendy), Eyre, D.S. (Dylan Samuel), Barton, A. (Anne), Mooser, V. (Vincent), and Francks, C. (Clyde)
Abstract: Smoking influences body weight such that smokers weigh less than non-smokers and smoking cessation often leads to weight increase. The relationship between body weight and smoking is partly explained by the effect of nicotine on appetite and metabolism. However, the brain reward system is involved in the control of the intake of both food and tobacco. We evaluated the effect of single-nucleotide polymorphisms (SNPs) affecting body mass index (BMI) on smoking behavior, and tested the 32 SNPs identified in a meta-analysis for association with two smoking phenotypes, smoking initiation (SI) and the number of cigarettes smoked per day (CPD) in an Icelandic sample (N=34 216 smokers). Combined according to their effect on BMI, the SNPs correlate with both SI (r=0.019, P=0.00054) and CPD (r=0.032, P=8.0 × 10-7). These findings replicate in a second large data set (N=127 274, thereof 76 242 smokers) for both SI (P=1.2 × 10-5) and CPD (P=9.3 × 10-5). Notably, the variant most strongly associated with BMI (rs1558902-A in FTO) did not associate with smoking behavior. The association with smoking behavior is not due to the effect of the SNPs on BMI. Our results strongly point to a common biological basis of the regulation of our appetite for tobacco and food, and thus the vulnerability to nicotine addiction and obesity.
Published: 2013
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93. Increased risk of lung cancer in individuals with a family history of the disease: A pooled analysis from the International Lung Cancer Consortium.

Author: Cote, M.L., Liu, M., Bonassi, S., Neri, M., Schwartz, A.G., Christiani, D.C., Spitz, M.R., Muscat, J.E., Rennert, G., Aben, K.K.H., Andrew, A.S., Bencko, V., Bickeboller, H., Boffetta, P., Brennan, P., Brenner, H., Duell, E.J., Fabianova, E., Field, J.K., Foretova, L., Friis, S., Harris, C.C., Holcatova, I., Hong, Y.C., Isla, D., Janout, V., Kiemeney, L.A.L.M., Kiyohara, C., Lan, Q., Lazarus, P., Lissowska, J., Marchand, L. le, Mates, D., Matsuo, K., Mayordomo, J.I., McLaughlin, J.R., Morgenstern, H., Mueller, H., Orlow, I., Park, B.J., Pinchev, M., Raji, O.Y., Rennert, H.S., Rudnai, P., Seow, A., Stucker, I., Szeszenia-Dabrowska, N., Teare, M.D., Tjonnelan, A., Ugolini, D., Heijden, E. van der, Wichmann, E., Wiencke, J.K., Woll, P.J., Yang, P., Zaridze, D., Zhang, Z.F., Etzel, C.J., Hung, R.J., Cote, M.L., Liu, M., Bonassi, S., Neri, M., Schwartz, A.G., Christiani, D.C., Spitz, M.R., Muscat, J.E., Rennert, G., Aben, K.K.H., Andrew, A.S., Bencko, V., Bickeboller, H., Boffetta, P., Brennan, P., Brenner, H., Duell, E.J., Fabianova, E., Field, J.K., Foretova, L., Friis, S., Harris, C.C., Holcatova, I., Hong, Y.C., Isla, D., Janout, V., Kiemeney, L.A.L.M., Kiyohara, C., Lan, Q., Lazarus, P., Lissowska, J., Marchand, L. le, Mates, D., Matsuo, K., Mayordomo, J.I., McLaughlin, J.R., Morgenstern, H., Mueller, H., Orlow, I., Park, B.J., Pinchev, M., Raji, O.Y., Rennert, H.S., Rudnai, P., Seow, A., Stucker, I., Szeszenia-Dabrowska, N., Teare, M.D., Tjonnelan, A., Ugolini, D., Heijden, E. van der, Wichmann, E., Wiencke, J.K., Woll, P.J., Yang, P., Zaridze, D., Zhang, Z.F., Etzel, C.J., and Hung, R.J.
Abstract: 1 september 2012, Item does not contain fulltext, BACKGROUND AND METHODS: Familial aggregation of lung cancer exists after accounting for cigarette smoking. However, the extent to which family history affects risk by smoking status, histology, relative type and ethnicity is not well described. This pooled analysis included 24 case-control studies in the International Lung Cancer Consortium. Each study collected age of onset/interview, gender, race/ethnicity, cigarette smoking, histology and first-degree family history of lung cancer. Data from 24,380 lung cancer cases and 23,305 healthy controls were analysed. Unconditional logistic regression models and generalised estimating equations were used to estimate odds ratios and 95% confidence intervals. RESULTS: Individuals with a first-degree relative with lung cancer had a 1.51-fold increase in the risk of lung cancer, after adjustment for smoking and other potential confounders (95% CI: 1.39, 1.63). The association was strongest for those with a family history in a sibling, after adjustment (odds ratios (OR)=1.82, 95% CI: 1.62, 2.05). No modifying effect by histologic type was found. Never smokers showed a lower association with positive familial history of lung cancer (OR=1.25, 95% CI: 1.03, 1.52), slightly stronger for those with an affected sibling (OR=1.44, 95% CI: 1.07, 1.93), after adjustment. CONCLUSIONS: The occurrence of lung cancer among never smokers and similar magnitudes of the effect of family history on lung cancer risk across histological types suggests familial aggregation of lung cancer is independent of those risks associated with cigarette smoking. While the role of genetic variation in the aetiology of lung cancer remains to be fully characterised, family history assessment is immediately available and those with a positive history represent a higher risk group.
Published: 2012

94. Occupational exposure to organic dust increases lung cancer risk in the general population.

Author: Risk Assessment of Toxic and Immunomodulatory Agents, Dep IRAS, Peters, S., Kromhout, H., Olsson, A.C., Wichmann, H.E., Bruske, I., Consonni, D., Landi, M.T., Caporaso, N., Siemiatycki, J., Richiardi, L., Mirabelli, D., Simonato, L., Gustavsson, P., Plato, N., Jockel, K.H., Ahrens, W., Pohlabeln, H., Boffetta, P., Brennan, P., Zaridze, D., Cassidy, A., Lissowska, J, Szeszenia-Dabrowska, N., Rudnai, P., Fabianova, E., Forastiere, F., Bencko, V., Foretova, L., Janout, V., Stucker, I., Dumitru, R.S., Benhamou, S., Bueno-de-Mesquita, B., Kendzia, B., Pesch, B., Straif, K., Bruning, T., Vermeulen, R., Risk Assessment of Toxic and Immunomodulatory Agents, Dep IRAS, Peters, S., Kromhout, H., Olsson, A.C., Wichmann, H.E., Bruske, I., Consonni, D., Landi, M.T., Caporaso, N., Siemiatycki, J., Richiardi, L., Mirabelli, D., Simonato, L., Gustavsson, P., Plato, N., Jockel, K.H., Ahrens, W., Pohlabeln, H., Boffetta, P., Brennan, P., Zaridze, D., Cassidy, A., Lissowska, J, Szeszenia-Dabrowska, N., Rudnai, P., Fabianova, E., Forastiere, F., Bencko, V., Foretova, L., Janout, V., Stucker, I., Dumitru, R.S., Benhamou, S., Bueno-de-Mesquita, B., Kendzia, B., Pesch, B., Straif, K., Bruning, T., and Vermeulen, R.
Published: 2012

95. Using prior information from the medical literature in GWAS of oral cancer identifies novel susceptibility variant on chromosome 4--the AdAPT method

Author: Johansson, M, Roberts, A, Chen, D, Li, Yuan, Delahaye Sourdeix, M, Aswani, N, Greenwood, Ma, Benhamou, S, Lagiou, P, Holcátová, I, Richiardi, L, Kjaerheim, K, Agudo, A, Castellsagué, X, Macfarlane, Tv, Barzan, L, Canova, C, Thakker, N, Conway, Di, Znaor, A, Healy, Cm, Ahrens, W, Zaridze, D, Szeszenia Dabrowska, N, Lissowska, J, Fabiánová, E, Mates, In, Bencko, V, Foretova, L, Janout, V, Curado, Mp, Koifman, S, Menezes, A, Wünsch Filho, V, Eluf Neto, J, Boffetta, P, Franceschi, S, Herrero, R, Fernandez Garrote, L, Talamini, R, Boccia, Stefania, Galan, P, Vatten, L, Thomson, P, Zelenika, D, Lathrop, M, Byrnes, G, Cunningham, H, Brennan, P, Wakefield, J, Mckay, Jd, Boccia, Stefania (ORCID:0000-0002-1864-749X), Johansson, M, Roberts, A, Chen, D, Li, Yuan, Delahaye Sourdeix, M, Aswani, N, Greenwood, Ma, Benhamou, S, Lagiou, P, Holcátová, I, Richiardi, L, Kjaerheim, K, Agudo, A, Castellsagué, X, Macfarlane, Tv, Barzan, L, Canova, C, Thakker, N, Conway, Di, Znaor, A, Healy, Cm, Ahrens, W, Zaridze, D, Szeszenia Dabrowska, N, Lissowska, J, Fabiánová, E, Mates, In, Bencko, V, Foretova, L, Janout, V, Curado, Mp, Koifman, S, Menezes, A, Wünsch Filho, V, Eluf Neto, J, Boffetta, P, Franceschi, S, Herrero, R, Fernandez Garrote, L, Talamini, R, Boccia, Stefania, Galan, P, Vatten, L, Thomson, P, Zelenika, D, Lathrop, M, Byrnes, G, Cunningham, H, Brennan, P, Wakefield, J, Mckay, Jd, and Boccia, Stefania (ORCID:0000-0002-1864-749X)
Abstract: 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 methodolog
Published: 2012

96. Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3

Author: Purdue, M.P., Johansson, M., Zelenika, D., Toro, J.R., Scelo, G., Moore, L.E., Prokhortchouk, E., Wu, X., Kiemeney, L.A.L.M., Gaborieau, V., Jacobs, K.B., Chow, W.H., Zaridze, D., Matveev, V., Lubinski, J., Trubicka, J., Szeszenia-Dabrowska, N., Lissowska, J., Rudnai, P., Fabianova, E., Bucur, A., Bencko, V., Foretova, L., Janout, V., Boffetta, P., Colt, J.S., Davis, F.G., Schwartz, K.L., Banks, R.E., Selby, P.J., Harnden, P., Berg, C.D., Hsing, A.W., Grubb, R.L. 3rd, Boeing, H., Vineis, P., Clavel-Chapelon, F., Palli, D., Tumino, R., Krogh, V., Panico, S., Duell, E.J., Quiros, J.R., Sanchez, M.J., Navarro, C, Ardanaz, E., Dorronsoro, M., Khaw, K.T., Allen, N.E., Bueno-De-Mesquita, H.B., Peeters, P.H.M., Trichopoulos, D., Linseisen, J., Ljungberg, B, Overvad, K., Tjonneland, A., Romieu, I., Riboli, E., Mukeria, A., Shangina, O., Stevens, V.L., Thun, M.J., Diver, W.R., Gapstur, S.M., Pharoah, P.D., Easton, D.F., Albanes, D., Weinstein, S.J., Virtamo, J., Vatten, L., Hveem, K., Njolstad, I., Tell, G.S., Stoltenberg, C., Kumar, R., Koppova, K., Cussenot, O., Benhamou, S., Oosterwijk, E., Vermeulen, H.H.M., Aben, K.K.H., Marel, S.L. van der, Ye, Y., Wood, C.G., Pu, X., Mazur, A.M., Boulygina, E.S., Chekanov, N.N., Foglio, M., Lechner, D., Gut, I, Heath, S., Blanche, H., Hutchinson, A., Thomas, G., Wang, Z., Yeager, M., Fraumeni, J.F. Jr., Skryabin, K.G., McKay, J.D., Purdue, M.P., Johansson, M., Zelenika, D., Toro, J.R., Scelo, G., Moore, L.E., Prokhortchouk, E., Wu, X., Kiemeney, L.A.L.M., Gaborieau, V., Jacobs, K.B., Chow, W.H., Zaridze, D., Matveev, V., Lubinski, J., Trubicka, J., Szeszenia-Dabrowska, N., Lissowska, J., Rudnai, P., Fabianova, E., Bucur, A., Bencko, V., Foretova, L., Janout, V., Boffetta, P., Colt, J.S., Davis, F.G., Schwartz, K.L., Banks, R.E., Selby, P.J., Harnden, P., Berg, C.D., Hsing, A.W., Grubb, R.L. 3rd, Boeing, H., Vineis, P., Clavel-Chapelon, F., Palli, D., Tumino, R., Krogh, V., Panico, S., Duell, E.J., Quiros, J.R., Sanchez, M.J., Navarro, C, Ardanaz, E., Dorronsoro, M., Khaw, K.T., Allen, N.E., Bueno-De-Mesquita, H.B., Peeters, P.H.M., Trichopoulos, D., Linseisen, J., Ljungberg, B, Overvad, K., Tjonneland, A., Romieu, I., Riboli, E., Mukeria, A., Shangina, O., Stevens, V.L., Thun, M.J., Diver, W.R., Gapstur, S.M., Pharoah, P.D., Easton, D.F., Albanes, D., Weinstein, S.J., Virtamo, J., Vatten, L., Hveem, K., Njolstad, I., Tell, G.S., Stoltenberg, C., Kumar, R., Koppova, K., Cussenot, O., Benhamou, S., Oosterwijk, E., Vermeulen, H.H.M., Aben, K.K.H., Marel, S.L. van der, Ye, Y., Wood, C.G., Pu, X., Mazur, A.M., Boulygina, E.S., Chekanov, N.N., Foglio, M., Lechner, D., Gut, I, Heath, S., Blanche, H., Hutchinson, A., Thomas, G., Wang, Z., Yeager, M., Fraumeni, J.F. Jr., Skryabin, K.G., and McKay, J.D.
Abstract: Contains fulltext : 97937.pdf (publisher's version ) (Closed access), We conducted a two-stage genome-wide association study of renal cell carcinoma (RCC) in 3,772 affected individuals (cases) and 8,505 controls of European background from 11 studies and followed up 6 SNPs in 3 replication studies of 2,198 cases and 4,918 controls. Two loci on the regions of 2p21 and 11q13.3 were associated with RCC susceptibility below genome-wide significance. Two correlated variants (r(2) = 0.99 in controls), rs11894252 (P = 1.8 x 10) and rs7579899 (P = 2.3 x 10), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. The second locus, rs7105934, at 11q13.3, contains no characterized genes (P = 7.8 x 10(1)). In addition, we observed a promising association on 12q24.31 for rs4765623, which maps to SCARB1, the scavenger receptor class B, member 1 gene (P = 2.6 x 10). Our study reports previously unidentified genomic regions associated with RCC risk that may lead to new etiological insights.
Published: 2011

97. A sex-specific association between a 15q25 variant and upper aerodigestive tract cancers

Author: Chen, D., Truong, T., Gaborieau, V., Byrnes, G., Chabrier, A., Chuang, S.C., Olshan, A.F., Weissler, M.C., Luo, J., Romkes, M., Buch, S., Nukui, T., Franceschi, S., Herrero, R., Talamini, R., Kelsey, K.T., Christensen, B., McClean, M.D., Lacko, M., Manni, J.J., Peters, W.H.M., Lubinski, J., Trubicka, J., Lener, M., Muscat, J.E., Lazarus, P., Wei, Q., Sturgis, E.M., Zhang, Z.F., Chang, S.C., Wang, R., Schwartz, S.M., Chen, C., Benhamou, S., Lagiou, P., Holcatova, I., Richiardi, L., Kjaerheim, K., Agudo, A., Castellsague, X., Macfarlane, T.V., Barzan, L., Canova, C., Thakker, N.S., Conway, D.I., Znaor, A., Healy, C.M., Ahrens, W., Zaridze, D., Szeszenia-Dabrowska, N., Lissowska, J., Fabianova, E., Bucur, A., Bencko, V., Foretova, L., Janout, V., Curado, M.P., Koifman, S., Menezes, A., Wunsch-Filho, V., Eluf-Neto, J., Fernandez, L., Boccia, S., Hashibe, M., Hayes, R.B., Boffetta, P., Brennan, P., McKay, J.D., Chen, D., Truong, T., Gaborieau, V., Byrnes, G., Chabrier, A., Chuang, S.C., Olshan, A.F., Weissler, M.C., Luo, J., Romkes, M., Buch, S., Nukui, T., Franceschi, S., Herrero, R., Talamini, R., Kelsey, K.T., Christensen, B., McClean, M.D., Lacko, M., Manni, J.J., Peters, W.H.M., Lubinski, J., Trubicka, J., Lener, M., Muscat, J.E., Lazarus, P., Wei, Q., Sturgis, E.M., Zhang, Z.F., Chang, S.C., Wang, R., Schwartz, S.M., Chen, C., Benhamou, S., Lagiou, P., Holcatova, I., Richiardi, L., Kjaerheim, K., Agudo, A., Castellsague, X., Macfarlane, T.V., Barzan, L., Canova, C., Thakker, N.S., Conway, D.I., Znaor, A., Healy, C.M., Ahrens, W., Zaridze, D., Szeszenia-Dabrowska, N., Lissowska, J., Fabianova, E., Bucur, A., Bencko, V., Foretova, L., Janout, V., Curado, M.P., Koifman, S., Menezes, A., Wunsch-Filho, V., Eluf-Neto, J., Fernandez, L., Boccia, S., Hashibe, M., Hayes, R.B., Boffetta, P., Brennan, P., and McKay, J.D.
Abstract: Contains fulltext : 96598.pdf (publisher's version ) (Closed access), BACKGROUND: Sequence variants located at 15q25 have been associated with lung cancer and propensity to smoke. We recently reported an association between rs16969968 and risk of upper aerodigestive tract (UADT) cancers (oral cavity, oropharynx, hypopharynx, larynx, and esophagus) in women (OR = 1.24, P = 0.003) with little effect in men (OR = 1.04, P = 0.35). METHODS: In a coordinated genotyping study within the International Head and Neck Cancer Epidemiology (INHANCE) consortium, we have sought to replicate these findings in an additional 4,604 cases and 6,239 controls from 10 independent UADT cancer case-control studies. RESULTS: rs16969968 was again associated with UADT cancers in women (OR = 1.21, 95% CI = 1.08-1.36, P = 0.001) and a similar lack of observed effect in men [OR = 1.02, 95% CI = 0.95-1.09, P = 0.66; P-heterogeneity (P(het)) = 0.01]. In a pooled analysis of the original and current studies, totaling 8,572 UADT cancer cases and 11,558 controls, the association was observed among females (OR = 1.22, 95% CI = 1.12-1.34, P = 7 x 10(-6)) but not males (OR = 1.02, 95% CI = 0.97-1.08, P = 0.35; P(het) = 6 x 10(-4)). There was little evidence for a sex difference in the association between this variant and cigarettes smoked per day, with male and female rs16969968 variant carriers smoking approximately the same amount more in the 11,991 ever smokers in the pooled analysis of the 14 studies (P(het) = 0.86). CONCLUSIONS: This study has confirmed a sex difference in the association between the 15q25 variant rs16969968 and UADT cancers. IMPACT: Further research is warranted to elucidate the mechanisms underlying these observations.
Published: 2011

98. Occupational exposure to dusts and risk of renal cell carcinoma.

Author: Karami, S, Boffetta, P, Stewart, PS, Brennan, P, Zaridze, D, Matveev, V, Janout, V, Kollarova, H, Bencko, V, Navratilova, M, Szeszenia-Dabrowska, N, Mates, D, Gromiec, J, Slamova, A, Chow, W-H, Rothman, N, Moore, LE, Karami, S, Boffetta, P, Stewart, PS, Brennan, P, Zaridze, D, Matveev, V, Janout, V, Kollarova, H, Bencko, V, Navratilova, M, Szeszenia-Dabrowska, N, Mates, D, Gromiec, J, Slamova, A, Chow, W-H, Rothman, N, and Moore, LE
Abstract: BACKGROUND: Occupational exposures to dusts have generally been examined in relation to cancers of the respiratory system and have rarely been examined in relation to other cancers, such as renal cell carcinoma (RCC). Although previous epidemiological studies, though few, have shown certain dusts, such as asbestos, to increase renal cancer risk, the potential for other occupational dust exposures to cause kidney damage and/or cancer may exist. We investigated whether asbestos, as well as 20 other occupational dust exposures, were associated with RCC risk in a large European, multi-center, hospital-based renal case-control study. METHODS: General occupational histories and job-specific questionnaires were reviewed by occupational hygienists for subject-specific information. Odds ratios (ORs) and 95% confidence intervals (95% CIs) between RCC risk and exposures were calculated using unconditional logistic regression. RESULTS: Among participants ever exposed to dusts, significant associations were observed for glass fibres (OR: 2.1; 95% CI: 1.1-3.9), mineral wool fibres (OR: 2.5; 95% CI: 1.2-5.1), and brick dust (OR: 1.5; 95% CI: 1.0-2.4). Significant trends were also observed with exposure duration and cumulative exposure. No association between RCC risk and asbestos exposure was observed. CONCLUSION: Results suggest that increased RCC risk may be associated with occupational exposure to specific types of dusts. Additional studies are needed to replicate and extend findings.
Published: 2011

99. A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium

Author: McKay, JD, Truong, T, Gaborieau, V, Chabrier, A, Chuang, SC, Byrnes, G, Zaridze, D, Shangina, O, Szeszenia-Dabrowska, N, Lissowska, J, Rudnai, P, Fabianova, E, Bucur, A, Bencko, V, Holcatova, I, Janout, V, Foretova, L, Lagiou, P, Trichopoulos, D, Benhamou, S, Bouchardy, C, Ahrens, W, Merletti, F, Richiardi, L, Talamini, R, Barzan, L, Kjaerheim, K, Macfarlane, GJ, Macfarlane, TV, Simonato, L, Canova, C, Agudo, A, Castellsagué, X, Lowry, R, Conway, DI, McKinney, PA, Healy, CM, Toner, ME, Znaor, A, Curado, MP, Koifman, S, Menezes, A, Wünsch-Filho, V, Neto, JE, Garrote, LF, Boccia, S, Cadoni, G, Arzani, D, Olshan, AF, Weissler, MC, Funkhouser, WK, Luo, J, Lubiński, J, Trubicka, J, Lener, M, Oszutowska, D, Schwartz, SM, Chen, C, Fish, S, Doody, DR, Muscat, JE, Lazarus, P, Gallagher, CJ, Chang, SC, Zhang, ZF, Wei, Q, Sturgis, EM, Wang, LE, Franceschi, S, Herrero, R, Kelsey, KT, McClean, MD, Marsit, CJ, Nelson, HH, Romkes, M, Buch, S, Nukui, T, Zhong, S, Lacko, M, Manni, JJ, Peters, WHM, Hung, RJ, McLaughlin, J, Vatten, L, Njølstad, I, Goodman, GE, Field, JK, Liloglou, T, Vineis, P, Clavel-Chapelon, F, Palli, D, Tumino, R, Krogh, V, Panico, S, González, CA, Quirós, JR, Martínez, C, Navarro, C, Ardanaz, E, Larrañaga, N, McKay, JD, Truong, T, Gaborieau, V, Chabrier, A, Chuang, SC, Byrnes, G, Zaridze, D, Shangina, O, Szeszenia-Dabrowska, N, Lissowska, J, Rudnai, P, Fabianova, E, Bucur, A, Bencko, V, Holcatova, I, Janout, V, Foretova, L, Lagiou, P, Trichopoulos, D, Benhamou, S, Bouchardy, C, Ahrens, W, Merletti, F, Richiardi, L, Talamini, R, Barzan, L, Kjaerheim, K, Macfarlane, GJ, Macfarlane, TV, Simonato, L, Canova, C, Agudo, A, Castellsagué, X, Lowry, R, Conway, DI, McKinney, PA, Healy, CM, Toner, ME, Znaor, A, Curado, MP, Koifman, S, Menezes, A, Wünsch-Filho, V, Neto, JE, Garrote, LF, Boccia, S, Cadoni, G, Arzani, D, Olshan, AF, Weissler, MC, Funkhouser, WK, Luo, J, Lubiński, J, Trubicka, J, Lener, M, Oszutowska, D, Schwartz, SM, Chen, C, Fish, S, Doody, DR, Muscat, JE, Lazarus, P, Gallagher, CJ, Chang, SC, Zhang, ZF, Wei, Q, Sturgis, EM, Wang, LE, Franceschi, S, Herrero, R, Kelsey, KT, McClean, MD, Marsit, CJ, Nelson, HH, Romkes, M, Buch, S, Nukui, T, Zhong, S, Lacko, M, Manni, JJ, Peters, WHM, Hung, RJ, McLaughlin, J, Vatten, L, Njølstad, I, Goodman, GE, Field, JK, Liloglou, T, Vineis, P, Clavel-Chapelon, F, Palli, D, Tumino, R, Krogh, V, Panico, S, González, CA, Quirós, JR, Martínez, C, Navarro, C, Ardanaz, E, and Larrañaga, N
Abstract: Genome-wide association studies (GWAS) have been successful in identifying common genetic variation involved in susceptibility to etiologically complex disease. We conducted a GWAS to identify common genetic variation involved in susceptibility to upper aero-digestive tract (UADT) cancers. Genome-wide genotyping was carried out using the Illumina HumanHap300 beadchips in 2,091 UADT cancer cases and 3,513 controls from two large European multi-centre UADT cancer studies, as well as 4,821 generic controls. The 19 top-ranked variants were investigated further in an additional 6,514 UADT cancer cases and 7,892 controls of European descent from an additional 13 UADT cancer studies participating in the INHANCE consortium. Five common variants presented evidence for significant association in the combined analysis (p≤5×10-7). Two novel variants were identified, a 4q21 variant (rs1494961, p = 1×10-8) located near DNA repair related genes HEL308 and FAM175A (or Abraxas) and a 12q24 variant (rs4767364, p = 2×10-8) located in an extended linkage disequilibrium region that contains multiple genes including the aldehyde dehydrogenase 2 (ALDH2) gene. Three remaining variants are located in the ADH gene cluster and were identified previously in a candidate gene study involving some of these samples. The association between these three variants and UADT cancers was independently replicated in 5,092 UADT cancer cases and 6,794 controls non-overlapping samples presented here (rs1573496-ADH7, p = 5×10-8; rs1229984-ADH1B, p = 7×10-9; and rs698-ADH1C, p = 0.02). These results implicate two variants at 4q21 and 12q24 and further highlight three ADH variants in UADT cancer susceptibility. © 2011 McKay et al.
Published: 2011

100. Novel cationic amphiphiles as delivery agents for antisense oligonucleotides

Author: Kang, S. H., Short, S. M., Alahari, S. K., DeLong, R. K., Regan, S. L., Kole, R., Hoon, Yoo, Juliano, R. L., Janout, V., and Fisher, M.
Abstract: There has been great interest recently in therapeutic use of nucleic acids including genes, ribozymes and antisense oligonucleotides. Despite recent improvements in delivering antisense oligonucleotides to cells in culture, nucleic acid-based therapy is still often limited by the poor penetration of the nucleic acid into the cytoplasm and nucleus of cells. In this report we describe nucleic acid delivery to cells using a series of novel cationic amphiphiles containing cholic acid moieties linked via alkylamino side chains. We term these agents 'molecular umbrellas' since the cationic alkylamino chains provide a 'handle' for binding of nucleic acids, while the cholic acid moieties are likely to interact with the lipid bilayer allowing the highly charged nucleic acid backbone to traverse across the cell membrane. Optimal gene and oligonucleotide delivery to cells was afforded by a derivative (amphiphile 5) containing four cholic acid moieties. With this amphiphile used as a constituent in cationic liposomes, a 4-5 log increase in reporter gene delivery was measured. This amphiphile used alone provided a 250-fold enhancement of oligo-nucleotide association with cells as observed by flow cytometry. A substantial fraction of cells exposed to complexes of amphiphile 5 and fluorescent oligo-nucleotide showed nuclear accumulation of the fluorophore. Enhanced pharmacological effectiveness of antisense oligonucleotides complexed with amphiphile 5 was observed using an antisense splicing correction assay that activates a Luciferase reporter. Intracellular delivery, nuclear localization and pharmacological effectiveness of oligonucleotides using amphiphile 5 were similar to those afforded by commercial cytofectins. However, in contrast to most commercial cytofectins, the umbrella amphiphile showed substantial delivery activity even in the presence of high concentrations of serum.
Published: 1999
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