124 results on '"Gurzau, E"'
Search Results
2. Chapter 2B. Examples of Ongoing European Surveys: Romania
- Author
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Gurzau, E., primary, Neamtiu, I., additional, and Lupsa, I. R., additional
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- 2011
- Full Text
- View/download PDF
Catalog
3. Indoor air pollution, physical and comfort parameters related to schoolchildren's health: Data from the European SINPHONIE study
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Baloch, R.M. Maesano, C.N. Christoffersen, J. Banerjee, S. Gabriel, M. Csobod, É. de Oliveira Fernandes, E. Annesi-Maesano, I. Szuppinger, P. Prokai, R. Farkas, P. Fuzi, C. Cani, E. Draganic, J. Mogyorosy, E.R. Korac, Z. Ventura, G. Madureira, J. Paciência, I. Martins, A. Pereira, R. Ramos, E. Rudnai, P. Páldy, A. Dura, G. Beregszászi, T. Vaskövi, É. Magyar, D. Pándics, T. Remény-Nagy, Z. Szentmihályi, R. Udvardy, O. Varró, M.J. Kephalopoulos, S. Kotzias, D. Barrero-Moreno, J. Mehmeti, R. Vilic, A. Maestro, D. Moshammer, H. Strasser, G. Brigitte, P. Hohenblum, P. Goelen, E. Stranger, M. Spruy, M. Sidjimov, M. Hadjipanayis, A. Katsonouri-Sazeides, A. Demetriou, E. Kubinova, R. Kazmarová, H. Dlouha, B. Kotlík, B. Vabar, H. Ruut, J. Metus, M. Rand, K. Järviste, A. Nevalainen, A. Hyvarinen, A. Täubel, M. Järvi, K. Mandin, C. Berthineau, B. Moriske, H.-J. Giacomini, M. Neumann, A. Bartzis, J. Kalimeri, K. Saraga, D. Santamouris, M. Assimakopoulos, M.N. Asimakopoulos, V. Carrer, P. Cattaneo, A. Pulvirenti, S. Vercelli, F. Strangi, F. Omeri, E. Piazza, S. D'Alcamo, A. Fanetti, A.C. Sestini, P. Kouri, M. Viegi, G. Baldacci, S. Maio, S. Franzitta, V. Bucchieri, S. Cibella, F. Neri, M. Martuzevičius, D. Krugly, E. Montefort, S. Fsadni, P. Brewczyński, P.Z. Krakowiak, E. Kurek, J. Kubarek, E. Wlazło, A. Borrego, C. Alves, C. Valente, J. Gurzau, E. Rosu, C. Popita, G. Neamtiu, I. Neagu, C. Norback, D. Bluyssen, P. Bohms, M. Van Den Hazel, P. Cassee, F. de Bruin, Y.B. Bartonova, A. Yang, A. Halzlová, K. Jajcaj, M. Kániková, M. Miklankova, O. Vítkivá, M. Jovsevic-Stojanovic, M. Zivkovic, M. Stevanovic, Z. Lazovic, I. Stevanovic, Z. Zivkovic, Z. Cerovic, S. Jocic-Stojanovic, J. Mumovic, D. Tarttelin, P. Chatzidiakou, L. Chatzidiakou, E. Dewolf, M.-C. SINPHONIE Study group more...
- Subjects
education - Abstract
Substantial knowledge is available on the association of the indoor school environment and its effect among schoolchildren. In the same context, the SINPHONIE (School indoor pollution and health: Observatory network in Europe) conducted a study to collect data and determine the distribution of several indoor air pollutants (IAPs), physical and thermal parameters and their association with eye, skin, upper-, lower respiratory and systemic disorder symptoms during the previous three months. Finally, data from 115 schools in 54 European cities from 23 countries was collected and included 5175 schoolchildren using a harmonized and standardized protocol. The association between exposures and the health outcomes were examined using logistic regression models on individual indoor air pollutants (IAPs); a VOC (volatile organic compound) score defined as the sum of the number of pollutants to which the children were highly exposed (concentration > median of the distribution) in classroom was also introduced to evaluate the multiexposure – outcome association, while adjusting for several confounding factors. Schoolchildren exposed to above or equal median concentration of PM2.5, benzene, limonene, ozone and radon were at significantly higher odds of suffering from upper, lower airways, eye and systemic disorders. Increased odds were also observed for any symptom (sick school syndrome) among schoolchildren exposed to concentrations of limonene and ozone above median values. Furthermore, the risks for upper and lower airways and systemic disorders significantly increased with the VOCs score. Results also showed that increased ventilation rate was significantly associated with decreased odds of suffering from eye, skin disorders whereas similar association was observed between temperature and upper airways symptoms. The present study provides evidence that exposure to IAPs in schools is associated with allergic and respiratory symptoms in children. Further investigations are needed to confirm our findings. © 2020 Elsevier B.V. more...
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- 2020
4. No association between MDM2 SNP309 promoter polymorphism and basal cell carcinoma of the skin
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Wilkening, S., Hemminki, K., Rudnai, P., Gurzau, E., Koppova, K., Försti, A., and Kumar, R.
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- 2007
5. Case–control study in basal cell carcinoma of the skin: single nucleotide polymorphisms in three interleukin promoters pre-analysed in pooled DNA
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Wilkening, S., Hemminki, K., Rudnai, P., Gurzau, E., Koppova, K., Kumar, R., and Försti, A.
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- 2006
6. Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer (vol 41, pg 991, 2009)
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Wu, X, Ye, Y, Kiemeney, L, Sulem, P, Rafnar, T, Matullo, G, Seminara, D, Yoshida, T, Saeki, N, Andrew, A, Dinney, C, Czerniak, B, Zhang, Z, Kiltie, A, Bishop, D, Vineis, P, Porru, S, Buntinx, F, Kellen, E, Zeegers, M, Kumar, R, Rudnai, P, Gurzau, E, Koppova, K, and Mayordomo, J more...
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- 2016
- Full Text
- View/download PDF
7. Seroprevalence of Bartonella species, Coxiella burnetii and Toxoplasma gondii among patients with hematological malignancies: A pilot study in Romania
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Messinger, C. J., primary, Gurzau, E. S., additional, Breitschwerdt, E. B., additional, Tomuleasa, C. I., additional, Trufan, S. J., additional, Flonta, M. M., additional, Maggi, R. G., additional, Berindan-Neagoe, I., additional, and Rabinowitz, P. M., additional more...
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- 2017
- Full Text
- View/download PDF
8. Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry
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Figueroa, J.D., Middlebrooks, C.D., Banday, A.R., Ye, Y., Garcia-Closas, M., Chatterjee, N., Koutros, S., Kiemeney, L.A., Rafnar, T., Bishop, T., Furberg, H., Matullo, G., Golka, K., Gago-Dominguez, M., Taylor, J.A., Fletcher, T., Siddiq, A., Cortessis, V.K., Kooperberg, C., Cussenot, O., Benhamou, S., Prescott, J., Porru, S., Dinney, C.P., Malats, N., Baris, D., Purdue, M.P., Jacobs, E.J., Albanes, D., Wang, Z., Chung, C.C., Vermeulen, S.H., Aben, K.K.H., Galesloot, T.E., Thorleifsson, G., Sulem, P., Stefansson, K., Kiltie, A.E., Harland, M., Teo, M., Offit, K., Vijai, J., Bajorin, D., Kopp, R., Fiorito, G., Guarrera, S., Sacerdote, C., Selinski, S., Hengstler, J.G., Gerullis, H., Ovsiannikov, D., Blaszkewicz, M., Castelao, J.E., Calaza, M., Martinez, M.E., Cordeiro, P., Xu, Z., Panduri, V., Kumar, R., Gurzau, E, Koppova, K., Bueno-de-Mesquita, H.B., Ljungberg, B., Clavel-Chapelon, F., Weiderpass, E., Krogh, V., Dorronsoro, M., Travis, R.C., Tjonneland, A., Brennan, P., Chang-Claude, J., Riboli, E., Conti, D., Stern, M.C., Pike, M.C., Berg, D., Yuan, J.M., Hohensee, C., Jeppson, R.P., Cancel-Tassin, G., Roupret, M., Comperat, E., Turman, C., Vivo, I. De, Giovannucci, E., Hunter, D.J., Kraft, P., Lindstrom, S., Carta, A., Pavanello, S., Arici, C., Mastrangelo, G., Kamat, A.M., Zhang, L., Gong, Y., Pu, X., Hutchinson, A., Burdett, L., Wheeler, W.A., Karagas, M.R., et al., Figueroa, J.D., Middlebrooks, C.D., Banday, A.R., Ye, Y., Garcia-Closas, M., Chatterjee, N., Koutros, S., Kiemeney, L.A., Rafnar, T., Bishop, T., Furberg, H., Matullo, G., Golka, K., Gago-Dominguez, M., Taylor, J.A., Fletcher, T., Siddiq, A., Cortessis, V.K., Kooperberg, C., Cussenot, O., Benhamou, S., Prescott, J., Porru, S., Dinney, C.P., Malats, N., Baris, D., Purdue, M.P., Jacobs, E.J., Albanes, D., Wang, Z., Chung, C.C., Vermeulen, S.H., Aben, K.K.H., Galesloot, T.E., Thorleifsson, G., Sulem, P., Stefansson, K., Kiltie, A.E., Harland, M., Teo, M., Offit, K., Vijai, J., Bajorin, D., Kopp, R., Fiorito, G., Guarrera, S., Sacerdote, C., Selinski, S., Hengstler, J.G., Gerullis, H., Ovsiannikov, D., Blaszkewicz, M., Castelao, J.E., Calaza, M., Martinez, M.E., Cordeiro, P., Xu, Z., Panduri, V., Kumar, R., Gurzau, E, Koppova, K., Bueno-de-Mesquita, H.B., Ljungberg, B., Clavel-Chapelon, F., Weiderpass, E., Krogh, V., Dorronsoro, M., Travis, R.C., Tjonneland, A., Brennan, P., Chang-Claude, J., Riboli, E., Conti, D., Stern, M.C., Pike, M.C., Berg, D., Yuan, J.M., Hohensee, C., Jeppson, R.P., Cancel-Tassin, G., Roupret, M., Comperat, E., Turman, C., Vivo, I. De, Giovannucci, E., Hunter, D.J., Kraft, P., Lindstrom, S., Carta, A., Pavanello, S., Arici, C., Mastrangelo, G., Kamat, A.M., Zhang, L., Gong, Y., Pu, X., Hutchinson, A., Burdett, L., Wheeler, W.A., Karagas, M.R., and et al. more...
- Abstract
Contains fulltext : 167299.pdf (publisher's version ) (Closed access), Candidate gene and genome-wide association studies (GWAS) have identified 15 independent genomic regions associated with bladder cancer risk. In search for additional susceptibility variants, we followed up on four promising single-nucleotide polymorphisms (SNPs) that had not achieved genome-wide significance in 6911 cases and 11 814 controls (rs6104690, rs4510656, rs5003154 and rs4907479, P < 1 x 10(-6)), using additional data from existing GWAS datasets and targeted genotyping for studies that did not have GWAS data. In a combined analysis, which included data on up to 15 058 cases and 286 270 controls, two SNPs achieved genome-wide statistical significance: rs6104690 in a gene desert at 20p12.2 (P = 2.19 x 10(-11)) and rs4907479 within the MCF2L gene at 13q34 (P = 3.3 x 10(-10)). Imputation and fine-mapping analyses were performed in these two regions for a subset of 5551 bladder cancer cases and 10 242 controls. Analyses at the 13q34 region suggest a single signal marked by rs4907479. In contrast, we detected two signals in the 20p12.2 region-the first signal is marked by rs6104690, and the second signal is marked by two moderately correlated SNPs (r(2) = 0.53), rs6108803 and the previously reported rs62185668. The second 20p12.2 signal is more strongly associated with the risk of muscle-invasive (T2-T4 stage) compared with non-muscle-invasive (Ta, T1 stage) bladder cancer (case-case P more...
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- 2016
9. Gender differences in cadmium and cotinine levels in prepubertal children
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Fucic, A, Plavec, D, Casteleyn, L, Aerts, D, Biot, P, Katsonouri, A, Cerna, M, Knudsen, Lisbeth E., Castano, A, Rudnai, P, Gutleb, A, Ligocka, D, Lupsa, I-R, Berglund, M, Horvat, M, Halzlova, K, Schoeters, G, Koppen, G, Hadjipanayis, A, Krskova, A, Középesy, S, Arendt, M, Fischer, M E, Janasik, B, Gurzau, A E, Gurzau, E S, Grandér, M, Larsson, K, Jajcaj, M, Kolossa-Gehring, M, Sepai, O, Exley, K, Bartolome, M, Cutanda, F, Mazej, D, Nielsen, J K S, Snoj-Tratnik, J, Schwedler, G, Fiddicke, U, Seiwert, M, Govarts, E, Den Hond, E, Koch, H M, Lopez, A, Joas, A, Joas, R, Fucic, A, Plavec, D, Casteleyn, L, Aerts, D, Biot, P, Katsonouri, A, Cerna, M, Knudsen, Lisbeth E., Castano, A, Rudnai, P, Gutleb, A, Ligocka, D, Lupsa, I-R, Berglund, M, Horvat, M, Halzlova, K, Schoeters, G, Koppen, G, Hadjipanayis, A, Krskova, A, Középesy, S, Arendt, M, Fischer, M E, Janasik, B, Gurzau, A E, Gurzau, E S, Grandér, M, Larsson, K, Jajcaj, M, Kolossa-Gehring, M, Sepai, O, Exley, K, Bartolome, M, Cutanda, F, Mazej, D, Nielsen, J K S, Snoj-Tratnik, J, Schwedler, G, Fiddicke, U, Seiwert, M, Govarts, E, Den Hond, E, Koch, H M, Lopez, A, Joas, A, and Joas, R more...
- Abstract
Susceptibility to environmental stressors has been described for fetal and early childhood development. However, the possible susceptibility of the prepubertal period, characterized by the orchestration of the organism towards sexual maturation and adulthood has been poorly investigated and exposure data are scarce. In the current study levels of cadmium (Cd), cotinine and creatinine in urine were analyzed in a subsample 216 children from 12 European countries within the DEMOCOPHES project. The children were divided into six age-sex groups: boys (6-8 years, 9-10 years and 11 years old), and girls (6-7 years, 8-9 years, 10-11 years). The number of subjects per group was between 23 and 53. The cut off values were set at 0.1µg/L for Cd, and 0.8µg/L for cotinine defined according to the highest limit of quantification. The levels of Cd and cotinine were adjusted for creatinine level. In the total subsample group, the median level of Cd was 0.180µg/L (range 0.10-0.69µg/L), and for cotinine the median wet weight value was 1.50µg/L (range 0.80-39.91µg/L). There was no significant difference in creatinine and cotinine levels between genders and age groups. There was a significant correlation between levels of cadmium and creatinine in all children of both genders. This shows that even at such low levels the possible effect of cadmium on kidney function was present and measurable. An increase in Cd levels was evident with age. Cadmium levels were significantly different between 6-7 year old girls, 11 year old boys and 10-11 year old girls. As there was a balanced distribution in the number of subjects from countries included in the study, bias due to data clustering was not probable. The impact of low Cd levels on kidney function and gender differences in Cd levels needs further investigation. more...
- Published
- 2015
10. A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer
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Kiemeney, La, Sulem, P, Besenbacher, S, Vermeulen, Sh, Sigurdsson, A, Thorleifsson, G, Stacey, Sn, Gudmundsson, J, Zanon, C, Kostic, J, Bjarnason, H, Palsson, St, Skarpheoinsson, Ob, Gudjonsson, Sa, Witjes, Ja, Grotenhuis, Aj, Vehaegh, Gw, Bishop, Dt, CHUNG SAK, S, Choudhury, A, Elliott, F, Barrett, Jh, Hurst, Cd, DE VERDIER PK, Rudnai, P, Gurzau, E, Koppova, K, Vineis, P, Polidoro, S, Guarrera, S, Sacerdote, C, Campagna, Marcello, Placidi, Donatella, Arici, Cecilia, Zeegers, Mp, Kellen, E, SAEZ GUTIERREZ, B, SANZ VELEZ JI, SANCHEZ ZALABARDO, M, Valdivia, G, GARCIA PRATS MD, Hengstler, Jg, Blaszkewicz, M, Dietrich, H, Ophoff, Ra, VA DEN BERG LH, Aleiusdottir, K, Kristjansson, K, Geirsson, G, Nikulasson, S, Petursdottir, V, Kong, A, Thorgeirsson, T, Mungan, Na, Lindblom, A, VAN ES MA, Porru, Stefano, Buntinx, F, Golka, K, Mayordomo, Ji, Kumar, R, Matullo, G, Steineck, G, Kiltie, Ae, Aben, Kkh, Jonsson, E, Thorsteinsdottir, U, Knowles, Ma, Rafnar, T, and Stefansson, K. more...
- Published
- 2010
11. Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer (vol 41, pg 991, 2009)
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Wu, X, Ye, Y, Kiemeney, LA, Sulem, P, Rafnar, T, Matullo, G, Seminara, D, Yoshida, T, Saeki, N, Andrew, AS, Dinney, CP, Czerniak, B, Zhang, Z-F, Kiltie, AE, Bishop, DT, Vineis, P, Porru, S, Buntinx, F, Kellen, E, Zeegers, MP, Kumar, R, Rudnai, P, Gurzau, E, Koppova, K, Mayordomo, JI, Sanchez, M, Saez, B, Lindblom, A, de Verdier, P, Steineck, G, Mills, GB, Schned, A, Chang, S-C, Lin, J, Chang, DW, Hale, KS, Majewski, T, Grossman, HB, Thorlacius, S, Thorsteinsdottir, U, Aben, KKH, Witjes, JA, Stefansson, K, Amos, CI, Karagas, MR, Gu, J, Guarrera, S, and Polidoro, S more...
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- 2009
12. Erratum: Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer (Nature Genetics) (2009) 41 (991-995))
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Wu, X, Ye, Y, Kiemeney, LA, Sulem, P, Rafnar, T, Matullo, G, Seminara, D, Yoshida, T, Saeki, N, Andrew, AS, Dinney, CP, Czerniak, B, Zhang, Z-F, Kiltie, AE, Bishop, DT, Vineis, P, Porru, S, Buntinx, F, Kellen, E, Zeegers, MP, Kumar, R, Rudnai, P, Gurzau, E, Koppova, K, Mayordomo, JI, Sanchez, M, Saez, B, Lindblom, A, De Verdier, P, Steineck, G, Mills, GB, Schned, A, Chang, S-C, Lin, J, Chang, DW, Hale, KS, Majewski, T, Grossman, HB, Thorlacius, S, Thorsteinsdottir, U, Aben, KKH, Witjes, JA, Stefansson, K, Amos, CI, Karagas, MR, and Gu, J more...
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- 2009
13. Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer
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Wu, X, Ye, Y, Kiemeney, La, Sulem, P, Rafnar, T, Matullo, G, Seminara, D, Yoshida, T, Saeki, N, Andrew, As, Dinney, Cp, Czerniak, B, Zhang, Z, Kiltie, Ae, Bishop, Dt, Vineis, P, Porru, Stefano, Buntinx, F, Kellen, E, Zeegers, Mp, Kumar, R, Rudnai, P, Gurzau, E, Koppova, K, Mayordomo, Ji, Sanchez, M, Saez, B, Lindblom, A, DE VERDIER, P, Steinek, G, Mills, Gb, Schned, A, Chang, Sc, Lin, J, Chang, Dw, Hale, Ks, Majewski, T, Grossman, Hb, Thorlacius, S, Thorsterindottir, U, Aben, Kkh, Witjes, Ja, Stefansson, K, Amos, Ci, Karagas, Mr, and Gu, J. more...
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- 2009
14. Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the International Consortium of Bladder Cancer
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Stern, Mc, Lin, J, Figueroa, Jd, Kelsey, Kt, Kiltie, Ae, Yuan, J. M., Matullo, G, Fletcher, T, Benhamou, S, Taylor, Ja, Placidi, Donatella, Zhang, Zf, Steineck, G, Rothman, N, Kogevinas, M, Silverman, D, Malatas, N, Chanock, S, Wu, X, KARAGAS MR ANDREW AS, Nelson, Hh, Bishop, Dt, Sak, Sc, Choudhury, A, Barrett, Jh, Elliot, F, Corral, R, Joshi, Ad, GAGO DOMINGUEZ, M, Cortessis, Vk, Xiang, Yb, Vineis, P, Sacerdote, C, Guarrera, S, Polidoro, S, Allione, A, Gurzau, E, Koppova, K, Kumar, R, Rudnai, P, Porru, Stefano, Carta, Angela, Campagna, Marcello, Arici, Cecilia, Park, Sl, and GARCIA CLOSAS, M. more...
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- 2009
15. Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer
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Rafnar, T., Sulem, P., Thorleifsson, G., Vermeulen, S., Helgason, H., Saemundsdottir, J., Gudjonsson, S.A., Sigurdsson, A., Stacey, S.N., Gudmundsson, J., Johannsdottir, H., Alexiusdottir, K., Petursdottir, V., Nikulasson, S., Geirsson, G., Jonsson, T., Aben, K.K.H., Grotenhuis, A.J., Verhaegh, G.W.C.T., Dudek, A.M.D., Witjes, J.A., Heijden, A.G. van der, Vrieling, A., Galesloot, T.E., Juan, A. de, Panadero, A., Rivera, F., Hurst, C., Bishop, D.T., Sak, S.C., Choudhury, A., Teo, M.T., Arici, C., Carta, A., Toninelli, E., Verdier, P. de, Rudnai, P., Gurzau, E, Koppova, K., Keur, K.A. van der, Lurkin, I., Goossens, M., Kellen, E., Guarrera, S., Russo, A., Critelli, R., Sacerdote, C., Vineis, P., Krucker, C., Zeegers, M.P., Gerullis, H., Ovsiannikov, D., Volkert, F., Hengstler, J.G., Selinski, S., Magnusson, O.T., Masson, G., Kong, A., Gudbjartsson, D., Lindblom, A., Zwarthoff, E., Porru, S., Golka, K., Buntinx, F., Matullo, G., Kumar, R., Mayordomo, J.I., Steineck, D.G., Kiltie, A.E., Jonsson, E., Radvanyi, F., Knowles, M.A., Thorsteinsdottir, U., Kiemeney, B., Stefansson, K., Rafnar, T., Sulem, P., Thorleifsson, G., Vermeulen, S., Helgason, H., Saemundsdottir, J., Gudjonsson, S.A., Sigurdsson, A., Stacey, S.N., Gudmundsson, J., Johannsdottir, H., Alexiusdottir, K., Petursdottir, V., Nikulasson, S., Geirsson, G., Jonsson, T., Aben, K.K.H., Grotenhuis, A.J., Verhaegh, G.W.C.T., Dudek, A.M.D., Witjes, J.A., Heijden, A.G. van der, Vrieling, A., Galesloot, T.E., Juan, A. de, Panadero, A., Rivera, F., Hurst, C., Bishop, D.T., Sak, S.C., Choudhury, A., Teo, M.T., Arici, C., Carta, A., Toninelli, E., Verdier, P. de, Rudnai, P., Gurzau, E, Koppova, K., Keur, K.A. van der, Lurkin, I., Goossens, M., Kellen, E., Guarrera, S., Russo, A., Critelli, R., Sacerdote, C., Vineis, P., Krucker, C., Zeegers, M.P., Gerullis, H., Ovsiannikov, D., Volkert, F., Hengstler, J.G., Selinski, S., Magnusson, O.T., Masson, G., Kong, A., Gudbjartsson, D., Lindblom, A., Zwarthoff, E., Porru, S., Golka, K., Buntinx, F., Matullo, G., Kumar, R., Mayordomo, J.I., Steineck, D.G., Kiltie, A.E., Jonsson, E., Radvanyi, F., Knowles, M.A., Thorsteinsdottir, U., Kiemeney, B., and Stefansson, K. more...
- Abstract
Contains fulltext : 138103.pdf (Publisher’s version ) (Closed access), Genome-wide association studies (GWAS) of urinary bladder cancer (UBC) have yielded common variants at 12 loci that associate with risk of the disease. We report here the results of a GWAS of UBC including 1670 UBC cases and 90 180 controls, followed by replication analysis in additional 5266 UBC cases and 10 456 controls. We tested a dataset containing 34.2 million variants, generated by imputation based on whole-genome sequencing of 2230 Icelanders. Several correlated variants at 20p12, represented by rs62185668, show genome-wide significant association with UBC after combining discovery and replication results (OR = 1.19, P = 1.5 x 10(-11) for rs62185668-A, minor allele frequency = 23.6%). The variants are located in a non-coding region approximately 300 kb upstream from the JAG1 gene, an important component of the Notch signaling pathways that may be oncogenic or tumor suppressive in several forms of cancer. Our results add to the growing number of UBC risk variants discovered through GWAS. more...
- Published
- 2014
16. European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene
- Author
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Rafnar, T., Vermeulen, H.H.M., Sulem, P., Thorleifsson, G., Aben, K.K.H., Witjes, J.A., Grotenhuis, A.J., Verhaegh, G.W.C.T., Hulsbergen-van de Kaa, C.A., Besenbacher, S., Gudbjartsson, D., Stacey, S.N., Gudmundsson, J., Johannsdottir, H., Bjarnason, H., Zanon, C., Helgadottir, H., Jonasson, J.G., Tryggvadottir, L., Jonsson, E., Geirsson, G., Nikulasson, S., Petursdottir, V., Bishop, D.T., Chung-Sak, S., Choudhury, A., Elliott, F., Barrett, J.H., Knowles, M.A., Verdier, P. de, Ryk, C., Lindblom, A., Rudnai, P., Gurzau, E, Koppova, K., Vineis, P., Polidoro, S., Guarrera, S., Sacerdote, C., Panadero, A., Sanz-Velez, J.I., Sanchez, M., Valdivia, G., Garcia-Prats, M.D., Hengstler, J.G., Selinski, S., Gerullis, H., Ovsiannikov, D., Khezri, A., Aminsharifi, A., Malekzadeh, M., Berg, L.H. van den, Ophoff, R.A., Veldink, J.H., Zeegers, M.P., Kellen, E., Fostinelli, J., Andreoli, D., Arici, C., Porru, S., Buntinx, F., Ghaderi, A., Golka, K., Mayordomo, J.I., Matullo, G., Kumar, R., Steineck, G., Kiltie, A.E., Kong, A., Thorsteinsdottir, U., Stefansson, K., Kiemeney, L.A.L.M., Rafnar, T., Vermeulen, H.H.M., Sulem, P., Thorleifsson, G., Aben, K.K.H., Witjes, J.A., Grotenhuis, A.J., Verhaegh, G.W.C.T., Hulsbergen-van de Kaa, C.A., Besenbacher, S., Gudbjartsson, D., Stacey, S.N., Gudmundsson, J., Johannsdottir, H., Bjarnason, H., Zanon, C., Helgadottir, H., Jonasson, J.G., Tryggvadottir, L., Jonsson, E., Geirsson, G., Nikulasson, S., Petursdottir, V., Bishop, D.T., Chung-Sak, S., Choudhury, A., Elliott, F., Barrett, J.H., Knowles, M.A., Verdier, P. de, Ryk, C., Lindblom, A., Rudnai, P., Gurzau, E, Koppova, K., Vineis, P., Polidoro, S., Guarrera, S., Sacerdote, C., Panadero, A., Sanz-Velez, J.I., Sanchez, M., Valdivia, G., Garcia-Prats, M.D., Hengstler, J.G., Selinski, S., Gerullis, H., Ovsiannikov, D., Khezri, A., Aminsharifi, A., Malekzadeh, M., Berg, L.H. van den, Ophoff, R.A., Veldink, J.H., Zeegers, M.P., Kellen, E., Fostinelli, J., Andreoli, D., Arici, C., Porru, S., Buntinx, F., Ghaderi, A., Golka, K., Mayordomo, J.I., Matullo, G., Kumar, R., Steineck, G., Kiltie, A.E., Kong, A., Thorsteinsdottir, U., Stefansson, K., and Kiemeney, L.A.L.M. more...
- Abstract
Contains fulltext : 97884.pdf (publisher's version ) (Closed access), Three genome-wide association studies in Europe and the USA have reported eight urinary bladder cancer (UBC) susceptibility loci. Using extended case and control series and 1000 Genomes imputations of 5 340 737 single-nucleotide polymorphisms (SNPs), we searched for additional loci in the European GWAS. The discovery sample set consisted of 1631 cases and 3822 controls from the Netherlands and 603 cases and 37 781 controls from Iceland. For follow-up, we used 3790 cases and 7507 controls from 13 sample sets of European and Iranian ancestry. Based on the discovery analysis, we followed up signals in the urea transporter (UT) gene SLC14A. The strongest signal at this locus was represented by a SNP in intron 3, rs17674580, that reached genome-wide significance in the overall analysis of the discovery and follow-up groups: odds ratio = 1.17, P = 7.6 x 10(-11). SLC14A1 codes for UTs that define the Kidd blood group and are crucial for the maintenance of a constant urea concentration gradient in the renal medulla and, through this, the kidney's ability to concentrate urine. It is speculated that rs17674580, or other sequence variants in LD with it, indirectly modifies UBC risk by affecting urine production. If confirmed, this would support the 'urogenous contact hypothesis' that urine production and voiding frequency modify the risk of UBC. more...
- Published
- 2011
17. A germline variant in the TP53 polyadenylation signal confers cancer susceptibility
- Author
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Stacey, S.N., Sulem, P., Jonasdottir, A., Masson, G., Gudmundsson, J., Gudbjartsson, D.F., Magnusson, O.T., Gudjonsson, S.A., Sigurgeirsson, B., Thorisdottir, K., Ragnarsson, R., Benediktsdottir, K.R., Nexo, B.A., Tjonneland, A., Overvad, K., Rudnai, P., Gurzau, E, Koppova, K., Hemminki, K., Corredera, C., Fuentelsaz, V., Grasa, P., Navarrete, S., Fuertes, F., Garcia-Prats, M.D., Sanambrosio, E., Panadero, A., Juan, A. de, Garcia, A., Rivera, F., Planelles, D., Soriano, V., Requena, C., Aben, K.K.H., Rossum, M.M. van, Cremers, R.G.H.M., Oort, I.M. van, Spronsen, D.J. van, Schalken, J.A., Peters, W.H.M., Helfand, B.T., Donovan, J.L., Hamdy, F.C., Badescu, D., Codreanu, O., Jinga, M., Csiki, I.E., Constantinescu, V., Badea, P., Mates, I.N., Dinu, D.E., Constantin, A., Mates, D., Kristjansdottir, S., Agnarsson, B.A., Jonsson, E., Barkardottir, R.B., Einarsson, G.V., Sigurdsson, F., Moller, P.H., Stefansson, T., Valdimarsson, T., Johannsson, O.T., Sigurdsson, H., Jonsson, T., Jonasson, J.G., Tryggvadottir, L., Rice, T., Hansen, H.M., Xiao, Y., Lachance, D.H., Kosel, M.L., Decker, P.A., Thorleifsson, G., Johannsdottir, H., Helgadottir, H.T., Sigurdsson, A., Steinthorsdottir, V., Lindblom, A., Sandler, R.S., Keku, T.O., Banasik, K., Jorgensen, T., Witte, D.R., Hansen, T., Pedersen, O., Jinga, V., Neal, D.E., Catalona, W.J., Wrensch, M., Wiencke, J., Jenkins, R.B., Nagore, E., Vogel, U., Kiemeney, L.A.L.M., Kumar, R., Mayordomo, J.I., Olafsson, J.H., et al., Stacey, S.N., Sulem, P., Jonasdottir, A., Masson, G., Gudmundsson, J., Gudbjartsson, D.F., Magnusson, O.T., Gudjonsson, S.A., Sigurgeirsson, B., Thorisdottir, K., Ragnarsson, R., Benediktsdottir, K.R., Nexo, B.A., Tjonneland, A., Overvad, K., Rudnai, P., Gurzau, E, Koppova, K., Hemminki, K., Corredera, C., Fuentelsaz, V., Grasa, P., Navarrete, S., Fuertes, F., Garcia-Prats, M.D., Sanambrosio, E., Panadero, A., Juan, A. de, Garcia, A., Rivera, F., Planelles, D., Soriano, V., Requena, C., Aben, K.K.H., Rossum, M.M. van, Cremers, R.G.H.M., Oort, I.M. van, Spronsen, D.J. van, Schalken, J.A., Peters, W.H.M., Helfand, B.T., Donovan, J.L., Hamdy, F.C., Badescu, D., Codreanu, O., Jinga, M., Csiki, I.E., Constantinescu, V., Badea, P., Mates, I.N., Dinu, D.E., Constantin, A., Mates, D., Kristjansdottir, S., Agnarsson, B.A., Jonsson, E., Barkardottir, R.B., Einarsson, G.V., Sigurdsson, F., Moller, P.H., Stefansson, T., Valdimarsson, T., Johannsson, O.T., Sigurdsson, H., Jonsson, T., Jonasson, J.G., Tryggvadottir, L., Rice, T., Hansen, H.M., Xiao, Y., Lachance, D.H., Kosel, M.L., Decker, P.A., Thorleifsson, G., Johannsdottir, H., Helgadottir, H.T., Sigurdsson, A., Steinthorsdottir, V., Lindblom, A., Sandler, R.S., Keku, T.O., Banasik, K., Jorgensen, T., Witte, D.R., Hansen, T., Pedersen, O., Jinga, V., Neal, D.E., Catalona, W.J., Wrensch, M., Wiencke, J., Jenkins, R.B., Nagore, E., Vogel, U., Kiemeney, L.A.L.M., Kumar, R., Mayordomo, J.I., Olafsson, J.H., and et al. more...
- Abstract
Contains fulltext : 97569.pdf (publisher's version ) (Closed access), To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 x 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 x 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 x 10(-6)), glioma (OR = 2.35, P = 1.0 x 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 x 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27). more...
- Published
- 2011
18. A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
- Author
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Garcia-Closas, M., Chatterjee, N., Malats, N., Wu, X., Figueroa, J.D., Real, F.X., Berg, D.P.G. van den, Matullo, G., Baris, D., Thun, M., Kiemeney, L.A.L.M., Vilneis, P., De Vivo, I., Albanes, D., Purdue, M., Rafnar, T., Hildebrandt, M.A.T., Kiltie, A.E., Cussenot, O., Golka, K., Kumar, R., Taylor, J.A., Mayordomo, J.I., Jacobs, K.B., Kogevinas, M., Hutchinson, A., Wang, Z., Fu, Y., Prokunina-Olsson, L., Burdett, L., Yeager, M., Wheeler, W., Tardon, A., Serra, C., Carrato, A., Garcia-Closas, R., Lloreta, J., Johnson, A., Schwenn, M., Karagas, M.R., Schned, A., Andriole, G.L., Grubb, R., Black, A., Jacobs, E.J., Diver, W.R., Gapstur, S.M., Weinstein, S.J., Virtamo, J., Cortessis, V.K., Gago-Dominguez, M., Pike, M.C., Stern, M.C., Yuan, J.M., Hunter, D.J., McGrath, M., Dinney, C.P., Czerniak, B., Chen, M., Yang, H., Vermeulen, S., Aben, K.K.H., Witjes, J.A., Makkinje, R.R., Sulem, P., Besenbacher, S., Riboli, E., Brennan, P., Panico, S., Navarro, C, Allen, N.E., Bueno-De-Mesquita, H.B., Trichopoulos, D., Caporaso, N., Landi, M.T., Canzian, F., Ljungberg, B, Tjonneland, A., Clavel-Chapelon, F., Bishop, D.T., Teo, M.T., Knowles, M.A., Guarrera, S., Polidoro, S., Ricceri, F., Sacerdote, C., Allione, A., Cancel-Tassin, G., Selinski, S., Hengstler, J.G., Dietrich, H., Fletcher, T., Rudnai, P., Gurzau, E, Koppova, K., Bolick, S.C., Godfrey, A., Xu, Z., Garcia-Closas, M., Chatterjee, N., Malats, N., Wu, X., Figueroa, J.D., Real, F.X., Berg, D.P.G. van den, Matullo, G., Baris, D., Thun, M., Kiemeney, L.A.L.M., Vilneis, P., De Vivo, I., Albanes, D., Purdue, M., Rafnar, T., Hildebrandt, M.A.T., Kiltie, A.E., Cussenot, O., Golka, K., Kumar, R., Taylor, J.A., Mayordomo, J.I., Jacobs, K.B., Kogevinas, M., Hutchinson, A., Wang, Z., Fu, Y., Prokunina-Olsson, L., Burdett, L., Yeager, M., Wheeler, W., Tardon, A., Serra, C., Carrato, A., Garcia-Closas, R., Lloreta, J., Johnson, A., Schwenn, M., Karagas, M.R., Schned, A., Andriole, G.L., Grubb, R., Black, A., Jacobs, E.J., Diver, W.R., Gapstur, S.M., Weinstein, S.J., Virtamo, J., Cortessis, V.K., Gago-Dominguez, M., Pike, M.C., Stern, M.C., Yuan, J.M., Hunter, D.J., McGrath, M., Dinney, C.P., Czerniak, B., Chen, M., Yang, H., Vermeulen, S., Aben, K.K.H., Witjes, J.A., Makkinje, R.R., Sulem, P., Besenbacher, S., Riboli, E., Brennan, P., Panico, S., Navarro, C, Allen, N.E., Bueno-De-Mesquita, H.B., Trichopoulos, D., Caporaso, N., Landi, M.T., Canzian, F., Ljungberg, B, Tjonneland, A., Clavel-Chapelon, F., Bishop, D.T., Teo, M.T., Knowles, M.A., Guarrera, S., Polidoro, S., Ricceri, F., Sacerdote, C., Allione, A., Cancel-Tassin, G., Selinski, S., Hengstler, J.G., Dietrich, H., Fletcher, T., Rudnai, P., Gurzau, E, Koppova, K., Bolick, S.C., Godfrey, A., and Xu, Z. more...
- Abstract
Contains fulltext : 88946.pdf (publisher's version ) (Closed access)
- Published
- 2010
19. A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.
- Author
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Kiemeney, L.A.L.M., Sulem, P., Besenbacher, S., Vermeulen, S., Sigurdsson, A., Thorleifsson, G., Gudbjartsson, D.F., Stacey, S.N., Gudmundsson, J., Zanon, C., Kostic, J., Masson, G., Bjarnason, H., Palsson, S., Skarphedinsson, O.B., Gudjonsson, S.A., Witjes, J.A., Grotenhuis, A.J., Verhaegh, G.W.C.T., Bishop, D.T., Sak, S.C., Choudhury, A., Elliott, F., Barrett, J.H., Hurst, C.D., Verdier, P. de, Ryk, C., Rudnai, P., Gurzau, E, Koppova, K., Vineis, P., Polidoro, S., Guarrera, S., Sacerdote, C., Campagna, M., Placidi, D., Arici, C., Zeegers, M.P., Kellen, E., Gutierrez, B.S., Sanz-Velez, J.I., Sanchez-Zalabardo, M., Valdivia, G., Garcia-Prats, M.D., Hengstler, J.G., Blaszkewicz, M., Dietrich, H., Ophoff, R.A., Berg, L.H. van den, Alexiusdottir, K., Kristjansson, K., Geirsson, G., Nikulasson, S., Petursdottir, V., Kong, A., Thorgeirsson, T.E., Mungan, N.A., Lindblom, A., Es, M.A. van, Porru, S., Buntinx, F., Golka, K., Mayordomo, J.I., Kumar, R., Matullo, G., Steineck, G., Kiltie, A.E., Aben, K.K.H., Jonsson, E., Thorsteinsdottir, U., Knowles, M.A., Rafnar, T., Stefansson, K., Kiemeney, L.A.L.M., Sulem, P., Besenbacher, S., Vermeulen, S., Sigurdsson, A., Thorleifsson, G., Gudbjartsson, D.F., Stacey, S.N., Gudmundsson, J., Zanon, C., Kostic, J., Masson, G., Bjarnason, H., Palsson, S., Skarphedinsson, O.B., Gudjonsson, S.A., Witjes, J.A., Grotenhuis, A.J., Verhaegh, G.W.C.T., Bishop, D.T., Sak, S.C., Choudhury, A., Elliott, F., Barrett, J.H., Hurst, C.D., Verdier, P. de, Ryk, C., Rudnai, P., Gurzau, E, Koppova, K., Vineis, P., Polidoro, S., Guarrera, S., Sacerdote, C., Campagna, M., Placidi, D., Arici, C., Zeegers, M.P., Kellen, E., Gutierrez, B.S., Sanz-Velez, J.I., Sanchez-Zalabardo, M., Valdivia, G., Garcia-Prats, M.D., Hengstler, J.G., Blaszkewicz, M., Dietrich, H., Ophoff, R.A., Berg, L.H. van den, Alexiusdottir, K., Kristjansson, K., Geirsson, G., Nikulasson, S., Petursdottir, V., Kong, A., Thorgeirsson, T.E., Mungan, N.A., Lindblom, A., Es, M.A. van, Porru, S., Buntinx, F., Golka, K., Mayordomo, J.I., Kumar, R., Matullo, G., Steineck, G., Kiltie, A.E., Aben, K.K.H., Jonsson, E., Thorsteinsdottir, U., Knowles, M.A., Rafnar, T., and Stefansson, K. more...
- Abstract
Contains fulltext : 87396.pdf (publisher's version ) (Closed access)
- Published
- 2010
20. New common variants affecting susceptibility to basal cell carcinoma.
- Author
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Stacey, S.N., Sulem, P., Masson, G., Gudjonsson, S.A., Thorleifsson, G., Jakobsdottir, M., Sigurdsson, A., Gudbjartsson, D.F., Sigurgeirsson, B., Benediktsdottir, K.R., Thorisdottir, K., Ragnarsson, R., Scherer, D., Hemminki, K., Rudnai, P., Gurzau, E, Koppova, K., Botella-Estrada, R., Soriano, V., Juberias, P., Saez, B., Gilaberte, Y., Fuentelsaz, V., Corredera, C., Grasa, M., Hoiom, V., Lindblom, A., Bonenkamp, J.J., Rossum, M.M. van, Aben, K.K.H., Vries, E. de, Santinami, M., Mauro, M.G. Di, Maurichi, A., Wendt, J., Hochleitner, P., Pehamberger, H., Gudmundsson, J., Magnusdottir, D.N., Gretarsdottir, S., Holm, H., Steinthorsdottir, V., Frigge, M.L., Blondal, T., Saemundsdottir, J., Bjarnason, H., Kristjansson, K., Bjornsdottir, G., Okamoto, I., Rivoltini, L., Rodolfo, M., Kiemeney, L.A.L.M., Hansson, J., Nagore, E., Mayordomo, J.I., Kumar, R., Karagas, M.R., Nelson, H.H., Gulcher, J.R., Rafnar, T., Thorsteinsdottir, U., Olafsson, J.H., Kong, A., Stefansson, K., Stacey, S.N., Sulem, P., Masson, G., Gudjonsson, S.A., Thorleifsson, G., Jakobsdottir, M., Sigurdsson, A., Gudbjartsson, D.F., Sigurgeirsson, B., Benediktsdottir, K.R., Thorisdottir, K., Ragnarsson, R., Scherer, D., Hemminki, K., Rudnai, P., Gurzau, E, Koppova, K., Botella-Estrada, R., Soriano, V., Juberias, P., Saez, B., Gilaberte, Y., Fuentelsaz, V., Corredera, C., Grasa, M., Hoiom, V., Lindblom, A., Bonenkamp, J.J., Rossum, M.M. van, Aben, K.K.H., Vries, E. de, Santinami, M., Mauro, M.G. Di, Maurichi, A., Wendt, J., Hochleitner, P., Pehamberger, H., Gudmundsson, J., Magnusdottir, D.N., Gretarsdottir, S., Holm, H., Steinthorsdottir, V., Frigge, M.L., Blondal, T., Saemundsdottir, J., Bjarnason, H., Kristjansson, K., Bjornsdottir, G., Okamoto, I., Rivoltini, L., Rodolfo, M., Kiemeney, L.A.L.M., Hansson, J., Nagore, E., Mayordomo, J.I., Kumar, R., Karagas, M.R., Nelson, H.H., Gulcher, J.R., Rafnar, T., Thorsteinsdottir, U., Olafsson, J.H., Kong, A., and Stefansson, K. more...
- Abstract
Contains fulltext : 81164.pdf (publisher's version ) (Closed access), In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC), we describe here several new susceptibility variants. SNP rs11170164, encoding a G138E substitution in the keratin 5 (KRT5) gene, affects risk of BCC (OR = 1.35, P = 2.1 x 10(-9)). A variant at 9p21 near CDKN2A and CDKN2B also confers susceptibility to BCC (rs2151280[C]; OR = 1.19, P = 6.9 x 10(-9)), as does rs157935[T] at 7q32 near the imprinted gene KLF14 (OR = 1.23, P = 5.7 x 10(-10)). The effect of rs157935[T] is dependent on the parental origin of the risk allele. None of these variants were found to be associated with melanoma or fair-pigmentation traits. A melanoma- and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma. Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibility to BCC but protects against melanoma. more...
- Published
- 2009
21. Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.
- Author
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Rafnar, T., Sulem, P., Stacey, S.N., Geller, F., Gudmundsson, J., Sigurdsson, A., Jakobsdottir, M., Helgadottir, H., Thorlacius, S., Aben, K.K.H., Blondal, T., Thorgeirsson, T.E., Thorleifsson, G., Kristjansson, K., Thorisdottir, K., Ragnarsson, R., Sigurgeirsson, B., Skuladottir, H., Gudbjartsson, T., Isaksson, H.J., Einarsson, G.V., Benediktsdottir, K.R., Agnarsson, B.A., Olafsson, K., Salvarsdottir, A., Bjarnason, H., Asgeirsdottir, M., Kristinsson, K.T., Matthiasdottir, S., Sveinsdottir, S.G., Polidoro, S., Hoiom, V., Botella-Estrada, R., Hemminki, K., Rudnai, P., Bishop, D.T., Campagna, M., Kellen, E., Zeegers, M.P., Verdier, P. de, Ferrer, A., Isla, D., Vidal, M.J., Andres, R., Saez, B., Juberias, P., Banzo, J., Navarrete, S., Tres, A., Kan, D., Lindblom, A., Gurzau, E, Koppova, K., Vegt, F. de, Schalken, J.A., Heijden, H.F.M. van der, Smit, H.J., Termeer, R.A., Oosterwijk, E., Hooij, O. van, Nagore, E., Porru, S., Steineck, G., Hansson, J., Buntinx, F., Catalona, W.J., Matullo, G., Vineis, P., Kiltie, A.E., Mayordomo, J.I., Kumar, R., Kiemeney, L.A.L.M., Frigge, M.L., Jonsson, T., Saemundsson, H., Barkardottir, R.B., Jonsson, E., Jonsson, S., Olafsson, J.H., Gulcher, J.R., Masson, G., Gudbjartsson, D.F., Kong, A., Thorsteinsdottir, U., Stefansson, K., Rafnar, T., Sulem, P., Stacey, S.N., Geller, F., Gudmundsson, J., Sigurdsson, A., Jakobsdottir, M., Helgadottir, H., Thorlacius, S., Aben, K.K.H., Blondal, T., Thorgeirsson, T.E., Thorleifsson, G., Kristjansson, K., Thorisdottir, K., Ragnarsson, R., Sigurgeirsson, B., Skuladottir, H., Gudbjartsson, T., Isaksson, H.J., Einarsson, G.V., Benediktsdottir, K.R., Agnarsson, B.A., Olafsson, K., Salvarsdottir, A., Bjarnason, H., Asgeirsdottir, M., Kristinsson, K.T., Matthiasdottir, S., Sveinsdottir, S.G., Polidoro, S., Hoiom, V., Botella-Estrada, R., Hemminki, K., Rudnai, P., Bishop, D.T., Campagna, M., Kellen, E., Zeegers, M.P., Verdier, P. de, Ferrer, A., Isla, D., Vidal, M.J., Andres, R., Saez, B., Juberias, P., Banzo, J., Navarrete, S., Tres, A., Kan, D., Lindblom, A., Gurzau, E, Koppova, K., Vegt, F. de, Schalken, J.A., Heijden, H.F.M. van der, Smit, H.J., Termeer, R.A., Oosterwijk, E., Hooij, O. van, Nagore, E., Porru, S., Steineck, G., Hansson, J., Buntinx, F., Catalona, W.J., Matullo, G., Vineis, P., Kiltie, A.E., Mayordomo, J.I., Kumar, R., Kiemeney, L.A.L.M., Frigge, M.L., Jonsson, T., Saemundsson, H., Barkardottir, R.B., Jonsson, E., Jonsson, S., Olafsson, J.H., Gulcher, J.R., Masson, G., Gudbjartsson, D.F., Kong, A., Thorsteinsdottir, U., and Stefansson, K. more...
- Abstract
Contains fulltext : 81560.pdf (publisher's version ) (Closed access), The common sequence variants that have recently been associated with cancer risk are particular to a single cancer type or at most two. Following up on our genome-wide scan of basal cell carcinoma, we found that rs401681[C] on chromosome 5p15.33 satisfied our threshold for genome-wide significance (OR = 1.25, P = 3.7 x 10(-12)). We tested rs401681 for association with 16 additional cancer types in over 30,000 cancer cases and 45,000 controls and found association with lung cancer (OR = 1.15, P = 7.2 x 10(-8)) and urinary bladder, prostate and cervix cancer (ORs = 1.07-1.31, all P < 4 x 10(-4)). However, rs401681[C] seems to confer protection against cutaneous melanoma (OR = 0.88, P = 8.0 x 10(-4)). Notably, most of these cancer types have a strong environmental component to their risk. Investigation of the region led us to rs2736098[A], which showed stronger association with some cancer types. However, neither variant could fully account for the association of the other. rs2736098 corresponds to A305A in the telomerase reverse transcriptase (TERT) protein and rs401681 is in an intron of the CLPTM1L gene. more...
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- 2009
22. Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer.
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Wu, X., Ye, Y., Kiemeney, L.A.L.M., Sulem, P., Rafnar, T., Matullo, G., Seminara, D., Yoshida, T., Saeki, N., Andrew, A.S., Dinney, C.P., Czerniak, B., Zhang, Z.F., Kiltie, A.E., Bishop, D.T., Vineis, P., Porru, S., Buntinx, F., Kellen, E., Zeegers, M.P., Kumar, R., Rudnai, P., Gurzau, E, Koppova, K., Mayordomo, J.I., Sanchez, M., Saez, B., Lindblom, A., Verdier, P. de, Steineck, G., Mills, G.B., Schned, A., Guarrera, S., Polidoro, S., Chang, S.C., Lin, J., Chang, D.W., Hale, K.S., Majewski, T., Grossman, H.B., Thorlacius, S., Thorsteinsdottir, U., Aben, K.K.H., Witjes, J.A., Stefansson, K., Amos, C.I., Karagas, M.R., Gu, J., Wu, X., Ye, Y., Kiemeney, L.A.L.M., Sulem, P., Rafnar, T., Matullo, G., Seminara, D., Yoshida, T., Saeki, N., Andrew, A.S., Dinney, C.P., Czerniak, B., Zhang, Z.F., Kiltie, A.E., Bishop, D.T., Vineis, P., Porru, S., Buntinx, F., Kellen, E., Zeegers, M.P., Kumar, R., Rudnai, P., Gurzau, E, Koppova, K., Mayordomo, J.I., Sanchez, M., Saez, B., Lindblom, A., Verdier, P. de, Steineck, G., Mills, G.B., Schned, A., Guarrera, S., Polidoro, S., Chang, S.C., Lin, J., Chang, D.W., Hale, K.S., Majewski, T., Grossman, H.B., Thorlacius, S., Thorsteinsdottir, U., Aben, K.K.H., Witjes, J.A., Stefansson, K., Amos, C.I., Karagas, M.R., and Gu, J. more...
- Abstract
Contains fulltext : 80627.pdf (publisher's version ) (Closed access), We conducted a genome-wide association study on 969 bladder cancer cases and 957 controls from Texas. For fast-track validation, we evaluated 60 SNPs in three additional US populations and validated the top SNP in nine European populations. A missense variant (rs2294008) in the PSCA gene showed consistent association with bladder cancer in US and European populations. Combining all subjects (6,667 cases, 39,590 controls), the overall P-value was 2.14 x 10(-10) and the allelic odds ratio was 1.15 (95% confidence interval 1.10-1.20). rs2294008 alters the start codon and is predicted to cause truncation of nine amino acids from the N-terminal signal sequence of the primary PSCA translation product. In vitro reporter gene assay showed that the variant allele significantly reduced promoter activity. Resequencing of the PSCA genomic region showed that rs2294008 is the only common missense SNP in PSCA. Our data identify rs2294008 as a new bladder cancer susceptibility locus. more...
- Published
- 2009
23. ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma.
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Gudbjartsson, D.F., Sulem, P., Stacey, S.N., Goldstein, A.M., Rafnar, T., Sigurgeirsson, B., Benediktsdottir, K.R., Thorisdottir, K., Ragnarsson, R., Sveinsdottir, S.G., Magnusson, V., Lindblom, A., Kostulas, K., Botella-Estrada, R., Soriano, V., Juberias, P., Grasa, M., Saez, B., Andres, R., Scherer, D., Rudnai, P., Gurzau, E, Koppova, K., Kiemeney, L.A.L.M., Jakobsdottir, M., Steinberg, S., Helgason, A., Gretarsdottir, S., Tucker, M.A., Mayordomo, J.I., Nagore, E., Kumar, R., Hansson, J., Olafsson, J.H., Gulcher, J.R., Kong, A., Thorsteinsdottir, U., Stefansson, K., Gudbjartsson, D.F., Sulem, P., Stacey, S.N., Goldstein, A.M., Rafnar, T., Sigurgeirsson, B., Benediktsdottir, K.R., Thorisdottir, K., Ragnarsson, R., Sveinsdottir, S.G., Magnusson, V., Lindblom, A., Kostulas, K., Botella-Estrada, R., Soriano, V., Juberias, P., Grasa, M., Saez, B., Andres, R., Scherer, D., Rudnai, P., Gurzau, E, Koppova, K., Kiemeney, L.A.L.M., Jakobsdottir, M., Steinberg, S., Helgason, A., Gretarsdottir, S., Tucker, M.A., Mayordomo, J.I., Nagore, E., Kumar, R., Hansson, J., Olafsson, J.H., Gulcher, J.R., Kong, A., Thorsteinsdottir, U., and Stefansson, K. more...
- Abstract
Contains fulltext : 69041.pdf (publisher's version ) (Closed access), Fair color increases risk of cutaneous melanoma (CM) and basal cell carcinoma (BCC). Recent genome-wide association studies have identified variants affecting hair, eye and skin pigmentation in Europeans. Here, we assess the effect of these variants on risk of CM and BCC in European populations comprising 2,121 individuals with CM, 2,163 individuals with BCC and over 40,000 controls. A haplotype near ASIP, known to affect a similar spectrum of pigmentation traits as MC1R variants, conferred significant risk of CM (odds ratio (OR) = 1.45, P = 1.2 x 10(-9)) and BCC (OR = 1.33, P = 1.2 x 10(-6)). The variant in TYR encoding the R402Q amino acid substitution, previously shown to affect eye color and tanning response, conferred risk of CM (OR = 1.21, P = 2.8 x 10(-7)) and BCC (OR = 1.14, P = 6.1 x 10(-4)). An eye color variant in TYRP1 was associated with risk of CM (OR = 1.15, P = 4.6 x 10(-4)). The association of all three variants is robust with respect to adjustment for the effect of pigmentation. more...
- Published
- 2008
24. Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.
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Kiemeney, L.A.L.M., Thorlacius, S., Sulem, P., Geller, F., Aben, K.K.H., Stacey, S.N., Gudmundsson, J., Jakobsdottir, M., Bergthorsson, J.T., Sigurdsson, A., Blondal, T., Witjes, J.A., Vermeulen, H.H.M., Hulsbergen-van de Kaa, C.A., Swinkels, D.W., Ploeg, M., Cornel, E.B., Vergunst, H., Thorgeirsson, T.E., Gudbjartsson, D.F., Gudjonsson, S.A., Thorleifsson, G., Kristinsson, K.T., Mouy, M., Snorradottir, S., Placidi, D., Campagna, M., Arici, C., Koppova, K., Gurzau, E, Rudnai, P., Kellen, E., Polidoro, S., Guarrera, S., Sacerdote, C., Sanchez, M., Saez, B., Valdivia, G., Ryk, C., Verdier, P. de, Lindblom, A., Golka, K., Bishop, D.T., Knowles, M.A., Nikulasson, S., Petursdottir, V., Jonsson, E., Geirsson, G., Kristjansson, B., Mayordomo, J.I., Steineck, G., Porru, S., Buntinx, F., Zeegers, M., Fletcher, T., Kumar, R., Matullo, G., Vineis, P., Kiltie, A.E., Gulcher, J.R., Thorsteinsdottir, U., Kong, A., Rafnar, T., Stefansson, K., Kiemeney, L.A.L.M., Thorlacius, S., Sulem, P., Geller, F., Aben, K.K.H., Stacey, S.N., Gudmundsson, J., Jakobsdottir, M., Bergthorsson, J.T., Sigurdsson, A., Blondal, T., Witjes, J.A., Vermeulen, H.H.M., Hulsbergen-van de Kaa, C.A., Swinkels, D.W., Ploeg, M., Cornel, E.B., Vergunst, H., Thorgeirsson, T.E., Gudbjartsson, D.F., Gudjonsson, S.A., Thorleifsson, G., Kristinsson, K.T., Mouy, M., Snorradottir, S., Placidi, D., Campagna, M., Arici, C., Koppova, K., Gurzau, E, Rudnai, P., Kellen, E., Polidoro, S., Guarrera, S., Sacerdote, C., Sanchez, M., Saez, B., Valdivia, G., Ryk, C., Verdier, P. de, Lindblom, A., Golka, K., Bishop, D.T., Knowles, M.A., Nikulasson, S., Petursdottir, V., Jonsson, E., Geirsson, G., Kristjansson, B., Mayordomo, J.I., Steineck, G., Porru, S., Buntinx, F., Zeegers, M., Fletcher, T., Kumar, R., Matullo, G., Vineis, P., Kiltie, A.E., Gulcher, J.R., Thorsteinsdottir, U., Kong, A., Rafnar, T., and Stefansson, K. more...
- Abstract
Contains fulltext : 71044.pdf (publisher's version ) (Closed access), We conducted a genome-wide SNP association study on 1,803 urinary bladder cancer (UBC) cases and 34,336 controls from Iceland and The Netherlands and follow up studies in seven additional case-control groups (2,165 cases and 3,800 controls). The strongest association was observed with allele T of rs9642880 on chromosome 8q24, 30 kb upstream of MYC (allele-specific odds ratio (OR) = 1.22; P = 9.34 x 10(-12)). Approximately 20% of individuals of European ancestry are homozygous for rs9642880[T], and their estimated risk of developing UBC is 1.49 times that of noncarriers. No association was observed between UBC and the four 8q24 variants previously associated with prostate, colorectal and breast cancers, nor did rs9642880 associate with any of these three cancers. A weaker signal, but nonetheless of genome-wide significance, was captured by rs710521[A] located near TP63 on chromosome 3q28 (allele-specific OR = 1.19; P = 1. 15 x 10(-7)). more...
- Published
- 2008
25. Long-Term Arsenic Exposure and Cancer Risk-Sensitivity to Choice of Indicators Based on Recent and Lifetime Arsenic Intake
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Fletcher, T, primary, Leonardi, G, additional, Hough, R, additional, Goessler, W, additional, Gurzau, E, additional, Koppova, K, additional, Rudnai, P, additional, Clemens, F, additional, Kumar, R, additional, and Vahter, M, additional more...
- Published
- 2006
- Full Text
- View/download PDF
26. ARSENIC AND CANCER IN CENTRAL EUROPE
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Fletcher, T, primary, Leonardi, G, additional, Clemens, F, additional, Gurzau, E, additional, Koppova, K, additional, Rudnai, P, additional, Goessler, W, additional, Kumar, R, additional, and Vahter, M, additional more...
- Published
- 2005
- Full Text
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27. Respiratory symptoms, bronchitis and asthma in children of Central and Eastern Europe
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Leonardi, G.S., primary, Houthuijs, D., additional, Nikiforov, B., additional, Volf, J., additional, Rudnai, P., additional, Zejda, J., additional, Gurzau, E., additional, Fabianova, E., additional, Fletcher, T., additional, and Brunekreef, B., additional more...
- Published
- 2002
- Full Text
- View/download PDF
28. GENDER RELATED RESPIRATORY HEALTH RISK IN 7-11 YEAR OLD CHILDREN LIVING IN AREAS WITH DIFFERENT LEVELS OF AIR POLLUTION
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NICIU, E, primary, GURZAU, E S, additional, SURDU, S, additional, and COSTIN, I, additional
- Published
- 1996
- Full Text
- View/download PDF
29. Blood pressure hyperreactivity: an early cardiovascular risk in normotensive men exposed to low-to-moderate inorganic arsenic in drinking water.
- Author
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Kunrath J, Gurzau E, Gurzau A, Goessler W, Gelmann ER, Thach TT, McCarty KM, Yeckel CW, Kunrath, Julie, Gurzau, Eugen, Gurzau, Anca, Goessler, Walter, Gelmann, Elyssa R, Thach, Thu-Trang, McCarty, Kathleen M, and Yeckel, Catherine W more...
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- 2013
- Full Text
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30. Occurrence of Monomethylarsonous Acid in Urine of Humans Exposed to Inorganic Arsenic
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Aposhian, H. V., Gurzau, E. S., Le, X. C., Gurzau, A., Healy, S. M., Lu, X., Ma, M., Yip, L., Zakharyan, R. A., Maiorino, R. M., Dart, R. C., Tircus, M. G., Gonzalez-Ramirez, D., Morgan, D. L., Avram, D., and Aposhian, M. M. more...
- Abstract
Monomethylarsonous acid (MMAIII) has been detected for the first time in the urine of some humans exposed to inorganic arsenic in their drinking water. Our experiments have dealt with subjects in Romania who have been exposed to 2.8, 29, 84, or 161 μg of As/L in their drinking water. In the latter two groups, MMAIII was 11 and 7% of the urinary arsenic while the monomethylarsonic acid (MMAV) was 14 and 13%, respectively. Of our 58 subjects, 17% had MMAIII in their urine. MMAIII was not found in urine of any members of the group with the lowest level of As exposure. If the lowest-level As exposure group is excluded, 23% of our subjects had MMAIII in their urine. Our results indicate that (a) future studies concerning urinary arsenic profiles of arsenic-exposed humans must determine MMAIII concentrations, (b) previous studies of urinary profiles dealing with humans exposed to arsenic need to be re-examined and re-evaluated, and (c) since MMAIII is more toxic than inorganic arsenite, a re-examination is needed of the two hypotheses which hold that methylation is a detoxication process for inorganic arsenite and that inorganic arsenite is the major cause of the toxicity and carcinogenicity of inorganic arsenic. more...
- Published
- 2000
31. A germline variant in the TP53 polyadenylation signal confers cancer susceptibility
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Rafnar, T., Tjø, nneland, A., Grasa, P., Mates, D., Jinga, V., Hansen, T., Sigurgeirsson, B., Nagore, E., Hemminki, K., Badescu, D., Panadero, A., Steinthorsdottir, V., Jø, rgensen, T., Rudnai, P., Mayordomo, Ji, Stacey, Sn, Helfand, Bt, Peters, Wh, Garcí, a-prats, Md, Lachance, Dh, Jenkins, Rb, Agnarsson, Ba, Gurzau, E., Sulem, P., Banasik, K., Masson, G., Thorisdottir, K., Constantinescu, V., Corredera, C., Rossum, Mm, Overvad, K., Requena, C., Ragnarsson, R., Kristjansdottir, S., Jonsson, T., Planelles, D., Fuertes, F., Badea, P., Mates, In, Johannsson, Ot, Jinga, M., Rice, T., Constantin, A., Wrensch, M., Sigurdsson, H., Spronsen, Dj, Hamdy, Fc, Kumar, R., Oort, Im, Johannsdottir, H., Tryggvadottir, L., Rivera, F., Stefansson, T., Dinu, DE, Keku, To, Moller, Ph, Kosel, Ml, Csiki, Ie, Gudjonsson, Sa, Benediktsdottir, Kr, Decker, Pa, Sandler, Rs, Aben, Kk, Pedersen, O., Wiencke, J., Soriano, V., Sanambrosio, E., Navarrete, S., Garcia, A., Jonsson, E., Barkardottir, Rb, Stefansson, K., Neal, DE, Gudbjartsson, Df, Juan, A., Donovan, Jl, Codreanu, O., Lindblom, A., Fuentelsaz, V., Gudmundsson, J., Witte, Dr, Kiemeney, La, Xiao, Y., Kong, A., Jonasdottir, A., Olafsson, Jh, Cremers, Rg, Nexø, Einarsson, Gv, Hansen, Hm, Helgadottir, Ht, Catalona, Wj, Magnusson, Ot, O Neill, Bp, Thorleifsson, G., Sigurdsson, F., Thorsteinsdottir, U., Valdimarsson, T., Vogel, U., Jonasson, Jg, Schalken, Ja, Sigurdsson, A., and Koppova, K. more...
32. Risk assessment/communication in a lead contaminated area of Romania
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Surdu, S., Gurzau, A., Gurzau, E. S., Curseu, D., Faraian, D., Bereczki, A., Criotea, C., Bodor, E., and Zeic, A.
33. Intake of inorganic arsenic from food in hungary, Romania and Slovakia
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Leonardi, G. S., Gnagnarella, P., Fletcher, T., Walter Goessler, Gurzau, E., Hemminki, K., Hough, R., Koppova, K., Kumar, R., Leonardi, G., Rudnai, P., and Vahter, M.
34. Lifetime Exposure to Arsenic in Residential Drinking Water in Central Europe.
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Fletcher, T, Leonardi, G, Hough, R, Goessler, W, Gurzau, E, Koppova, K, Kumar, R, Rudnai, P, and Vahter, M
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- 2008
- Full Text
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35. ETHICAL AND PRACTICAL ASPECTS OF ATOPY TESTING BY SKIN PRICK OR BLOOD TESTING IN THE CESAR STUDY IN CENTRAL EUROPE.
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LEONARDI, G S, ZEJDA, J, GURZAU, E, and FARKAS, I
- Published
- 1996
36. GENDER RELATED RESPIRATORY HEALTH RISK IN 711 YEAR OLD CHILDREN LIVING IN AREAS WITH DIFFERENT LEVELS OF AIR POLLUTION
- Author
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NICIU, E, GURZAU, E S, SURDU, S, and COSTIN, I
- Published
- 1996
37. A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci
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Rajesh Kumar, Gerald L. Andriole, Robert L. Grubb, Monica McGrath, Amanda Black, Manuela Gago-Dominguez, Margaret A. Knowles, Francisco X. Real, Nilanjan Chatterjee, Thorunn Rafnar, Kevin B. Jacobs, Silvia Polidoro, Debra T. Silverman, Sita H. Vermeulen, Manuel Sanchez, Núria Malats, Salvatore Panico, Amy Hutchinson, William Wheeler, Carmen Navarro, Montserrat Garcia-Closas, Carlotta Sacerdote, Gabriel Valdivia, Yi-Ping Fu, Kari Stefansson, Michelle A.T. Hildebrandt, Alessandra Allione, Katja K.H. Aben, Alison Johnson, W. Ryan Diver, Laurie Burdett, Sophia C.E. Bolick, David J. Hunter, Jarmo Virtamo, Jack A. Taylor, Ludmila Prokunina-Olsson, José I Sanz-Velez, Mark P. Purdue, Fulvio Ricceri, Elio Riboli, Maria Teresa Landi, Susan M. Gapstur, Søren Besenbacher, Joseph F. Fraumeni, Olivier Cussenot, J. Alfred Witjes, Victoria K. Cortessis, Paul Brennan, Tony Fletcher, David Van Den Berg, Börje Ljungberg, Lambertus A. Kiemeney, Dalsu Baris, Mark Teo, Zongli Xu, Geraldine Cancel-Tassin, Holger Dietrich, Zhaoming Wang, Maria D. Garcia-Prats, Françoise Clavel-Chapelon, Adonina Tardón, Paolo Vineis, Peter Rudnai, Margaret R. Karagas, Naomi E. Allen, H. Bas Bueno-de-Mesquita, Molly Schwenn, Jose I. Mayordomo, Ashley C. Godfrey, Manolis Kogevinas, Silvia Selinski, Stephen J. Chanock, Jonine D. Figueroa, Alan R. Schned, Stefano Porru, Mariana C. Stern, Demetrius Albanes, Simonetta Guarrera, Patrick Sulem, Immaculata De Vivo, Hushan Yang, Robert N. Hoover, Kvetoslava Koppova, Michael J. Thun, Malcolm C. Pike, Giuseppe Matullo, D T Bishop, Neil E. Caporaso, Klaus Golka, Eugen Gurzau, Colin P.N. Dinney, Josep Lloreta, Nathaniel Rothman, Eric J. Jacobs, Simone Benhamou, Alfredo Carrato, Federico Canzian, Xifeng Wu, Consol Serra, Anne Tjønneland, Jian-Min Yuan, Meredith Yeager, Reina García-Closas, Stephanie J. Weinstein, Jan G. Hengstler, Dimitrios Trichopoulos, Remco R. R. Makkinje, Anne E. Kiltie, Bogdan Czerniak, Meng Chen, Rothman, N, Garcia Closas, M, Chatterjee, N, Malats, N, Wu, X, Figueroa, Jd, Real, Fx, Van Den Berg, D, Matullo, G, Baris, D, Thun, M, Kiemeney, La, Vineis, P, De Vivo, I, Albanes, D, Purdue, Mp, Rafnar, T, Hildebrandt, Ma, Kiltie, Ae, Cussenot, O, Golka, K, Kumar, R, Taylor, Ja, Mayordomo, Ji, Jacobs, Kb, Kogevinas, M, Hutchinson, A, Wang, Z, Fu, Yp, Prokunina Olsson, L, Burdett, L, Yeager, M, Wheeler, W, Tardón, A, Serra, C, Carrato, A, García Closas, R, Lloreta, J, Johnson, A, Schwenn, M, Karagas, Mr, Schned, A, Andriole G., Jr, Grubb R., 3rd, Black, A, Jacobs, Ej, Diver, Wr, Gapstur, Sm, Weinstein, Sj, Virtamo, J, Cortessis, Vk, Gago Dominguez, M, Pike, Mc, Stern, Mc, Yuan, Jm, Hunter, Dj, Mcgrath, M, Dinney, Cp, Czerniak, B, Chen, M, Yang, H, Vermeulen, Sh, Aben, Kk, Witjes, Ja, Makkinje, Rr, Sulem, P, Besenbacher, S, Stefansson, K, Riboli, E, Brennan, P, Panico, Salvatore, Navarro, C, Allen, Ne, Bueno de Mesquita, Hb, Trichopoulos, D, Caporaso, Nicola, Landi, Mt, Canzian, F, Ljungberg, B, Tjonneland, A, Clavel Chapelon, F, Bishop, Dt, Teo, Mt, Knowles, Ma, Guarrera, S, Polidoro, S, Ricceri, F, Sacerdote, C, Allione, A, Cancel Tassin, G, Selinski, S, Hengstler, Jg, Dietrich, H, Fletcher, T, Rudnai, P, Gurzau, E, Koppova, K, Bolick, Sc, Godfrey, A, Xu, Z, Sanz Velez, Ji, D., García Prats M, Sanchez, M, Valdivia, G, Porru, S, Benhamou, S, Hoover, Rn, Fraumeni JF, Jr, Silverman, Dt, and Chanock, Sj more...
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Male ,Arylamine N-Acetyltransferase ,Chromosomes, Human, Pair 22 ,Genome-wide association study ,Aetiology, screening and detection [ONCOL 5] ,medicine.disease_cause ,Genome-wide association studies ,Risk Factors ,genome-wide association ,bladder cancer ,Psychology ,Genetics ,Sex Characteristics ,Incidence ,Bladder cancer ,Smoking ,Chromosome Mapping ,Single Nucleotide ,Tag SNP ,Europe ,Chromosomes, Human, Pair 2 ,Pair 2 ,Female ,Human ,Locus (genetics) ,Single-nucleotide polymorphism ,Biology ,Polymorphism, Single Nucleotide ,Risk Assessment ,Chromosomes ,Article ,Molecular epidemiology [NCEBP 1] ,Translational research [ONCOL 3] ,medicine ,Humans ,Family ,Genetic Predisposition to Disease ,Polymorphism ,Pair 18 ,Pair 22 ,Genome-Wide Association Study ,Neoplasm Staging ,Spain ,United States ,Urinary Bladder Neoplasms ,Cancer ,Chromosome ,medicine.disease ,Evaluation of complex medical interventions [NCEBP 2] ,Carcinogenesis ,Chromosomes, Human, Pair 18 - Abstract
We conducted a multi-stage, genome-wide association study of bladder cancer with a primary scan of 591,637 SNPs in 3,532 affected individuals (cases) and 5,120 controls of European descent from five studies followed by a replication strategy, which included 8,382 cases and 48,275 controls from 16 studies. In a combined analysis, we identified three new regions associated with bladder cancer on chromosomes 22q13.1, 19q12 and 2q37.1: rs1014971, (P = 8 × 10⁻¹²) maps to a non-genic region of chromosome 22q13.1, rs8102137 (P = 2 × 10⁻¹¹) on 19q12 maps to CCNE1 and rs11892031 (P = 1 × 10⁻⁷) maps to the UGT1A cluster on 2q37.1. We confirmed four previously identified genome-wide associations on chromosomes 3q28, 4p16.3, 8q24.21 and 8q24.3, validated previous candidate associations for the GSTM1 deletion (P = 4 × 10⁻¹¹) and a tag SNP for NAT2 acetylation status (P = 4 × 10⁻¹¹), and found interactions with smoking in both regions. Our findings on common variants associated with bladder cancer risk should provide new insights into the mechanisms of carcinogenesis. more...
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- 2010
38. Predicting environmental risk factors in relation to health outcomes among school children from Romania using random forest model - An analysis of data from the SINPHONIE project.
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Lin Z, Lin S, Neamtiu IA, Ye B, Csobod E, Fazakas E, and Gurzau E
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- Child, Europe, Humans, Male, Outcome Assessment, Health Care, Risk Factors, Romania epidemiology, Schools, Air Pollution, Indoor analysis
- Abstract
Background: Few studies have simultaneously assessed the health impact of school and home environmental factors on children, since handling multiple highly correlated environmental variables is challenging. In this study, we examined indoor home and school environments in relation to health outcomes using machine learning methods and logistic regression., Methods: We used the data collected by the SINPHONIE (Schools Indoor Pollution and Health: Observatory Network in Europe) project in Romania, a multicenter European research study that collected comprehensive information on school and home environments, health symptoms in children, smoking, and school policies. The health outcomes were categorized as: any health symptoms, asthma, allergy and flu-like symptoms. Both logistic regression and random forest (RF) methods were used to predict the four categories of health outcomes, and the methods prediction performance was compared., Results: The RF method we employed for analysis showed that common risk factors for the investigated categories of health outcomes, included: environmental tobacco smoke (ETS), dampness in the indoor school environment, male gender, air freshener use, residence located in proximity of traffic (<200 m), stressful schoolwork, and classroom noise (contributions ranged from 7.91% to 23.12%). Specificity, accuracy and area under the curve (AUC) values for most outcomes were higher when using RF compared to logistic regression, while sensitivity was similar in both methods., Conclusion: This study suggests that ETS, dampness in the indoor school environment, use of air fresheners, living in proximity to traffic (<200 m) and noise are common environmental risk factors for the investigated health outcomes. RF pointed out better predictive values, sensitivity and accuracy compared to logistic regression., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2021 Elsevier B.V. All rights reserved.) more...
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- 2021
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39. The expression of copper transporters associated with the ototoxicity induced by platinum-based chemotherapeutic agents.
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Perde-Schrepler M, Fischer-Fodor E, Virag P, Brie I, Cenariu M, Pop C, Valcan A, Gurzau E, and Maniu A
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- Animals, Antineoplastic Agents metabolism, Apoptosis drug effects, Carboplatin metabolism, Cell Line, Cisplatin metabolism, Cochlea metabolism, Cochlea pathology, Dose-Response Relationship, Drug, Mice, Ototoxicity, Oxaliplatin metabolism, Poly(ADP-ribose) Polymerases metabolism, Reactive Oxygen Species metabolism, Antineoplastic Agents toxicity, Carboplatin toxicity, Cisplatin toxicity, Cochlea drug effects, Copper metabolism, Copper Transporter 1 metabolism, Copper-Transporting ATPases metabolism, Oxaliplatin toxicity
- Abstract
Background: Antitumor agents based on platinum have gained a well-established place in the treatment of several forms of cancer. Their efficiency is hampered by serious toxic effects against healthy tissues as well. Ototoxicity is a serious side effect leading to hearing impairment and represents an important issue affecting the patients' quality of life. The currently used platinum chemotherapeutics exert different toxicity towards cochlear cells. The aim of our study was to answer some questions regarding the differential uptake and cellular pharmacodynamics of Cisplatin (CDDP), Carboplatin (CBDCA) and Oxaliplatin (L-OHP) in the HEI-OC1 cochlear cell line., Methods: We studied the expression of copper transporters CTR1, ATP7A and ATP7B which are presumably involved in the uptake, cellular transport and efflux of platinum compounds by immunofluorescence microscopy and flow-cytometry. The cellular uptake of the compounds was evaluated through the determination of intracellular platinum concentration by atomic absorption spectroscopy. The effects of the treatment of HEI-OC1 cells with platinum compounds were also evaluated: cytotoxicity with the Cell Titer Blue viability test, formation of reactive oxygen species with 2',7' -dichlorofluorescein diacetate, genotoxicity with the comet assay and apoptosis with the cleaved PARP ELISA test., Results: CTR1, ATP7A and ATP7B were all expressed by HEI-OC1 cells. The treatment with the platinum compounds led to a modulation of their expression, manifested in a differential platinum uptake. Treatment with Cisplatin led to the highest intracellular concentration of platinum compared to Oxaliplatin and Carboplatin at the same dose. Treatment with CuSO4 reduced platinum uptake of all the compounds, significantly in the case of Cisplatin and Carboplatin. CDDP was the most cytotoxic against HEI-OC1 cells, with an IC50 = 65.79 μM, compared to 611.7 μM for L-OHP and 882.9 μM for CBDCA, at the same molar concentration. The production of ROS was the most intense after CDDP, followed by L-OHP and CBDCA. In the comet assay, at the 100 μM concentration, L-OHP and CBDCA induced DNA adducts while CDDP induced adducts as well as DNA strand breaks. CBDCA and L-OHP lead to a significant increase of cleaved PARP at 24h (p < 0.001), suggesting an important apoptotic process induced by these compounds at the used concentrations., Conclusions: The results obtained in the current study suggest that the modulation of copper transporters locally may represent a new strategy against platinum drugs ototoxicity., Competing Interests: Declaration of competing interest None., (Copyright © 2020 Elsevier B.V. All rights reserved.) more...
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- 2020
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40. Interactions between dietary habits and home environmental exposures on respiratory symptoms in Romanian school children: an analysis of data from the SINPHONIE project.
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Lawrence WR, Lin S, Lin Z, Gurram N, Neamtiu IA, Csobod E, and Gurzau E
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- Child, Cross-Sectional Studies, Female, Humans, Male, Romania, Surveys and Questionnaires, Vegetables, Environmental Exposure, Feeding Behavior
- Abstract
In this study, we investigated the interactions between household pollutants and dietary habits on children's respiratory health. Our cross-sectional study collected self-reported information including health symptoms (allergy-like, asthma-like, and flu-like symptoms), home characteristics, dietary habits, and demographic information from questionnaires administered to parents of 280 school children in Romania. Unconditional logistic regression and stratified analyses were used to assess the interactions between dietary factors and environmental exposures on health symptoms among children, controlling for sociodemographic characteristics and co-exposures. We found that frequency of fruit consumption had significant interaction with residing near heavy traffic on allergy-like symptoms among children (p = 0.036). However, no association was observed by frequency of fruit consumption. Although no significant interaction was observed, we found that students with infrequent fruit consumption and residing near heavy traffic roads had elevated odds of asthma-like (POR 6.37; 95% CI 1.22, 33.29) and flu-like symptoms (POR 3.75; 95% CI 1.12, 11.86) than those who frequently consumed fruits. Likewise, low vegetable consumption was associated with increased asthma-like symptoms (POR 2.93; 95% CI 1.04, 8.24). Increased odds of asthma-like symptoms were observed among school children that resided near heavy traffic roads and frequently consumed milk (POR 2.80; 95% CI 1.24, 6.31) and yoghurt (POR 2.86; 95% CI 1.05, 7.75) compared to those that infrequently consumed dairy. Our findings suggest that frequent fruit and vegetable consumption may mitigate the negative effects of exposure to heavy traffic near dwelling on respiratory symptoms in Romanian children. more...
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- 2020
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41. Biological and molecular modifications induced by cadmium and arsenic during breast and prostate cancer development.
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Zimta AA, Schitcu V, Gurzau E, Stavaru C, Manda G, Szedlacsek S, and Berindan-Neagoe I
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- Cell Transformation, Neoplastic, Humans, Male, Metals, Heavy, Arsenic toxicity, Breast Neoplasms epidemiology, Cadmium toxicity, Environmental Exposure statistics & numerical data, Environmental Pollutants toxicity, Prostatic Neoplasms epidemiology
- Abstract
Breast and prostate cancer are two of the most common malignancies worldwide. Both cancers can develop into hormone -dependent or -independent subtypes and are associated to environmental exposure in the context of an inherited predisposition. As and Cd have been linked to the onset of both cancers, with the exception of As, which lacks a definitive association with breast carcinogenesis. The two elements exert an opposite effect dependent on acute versus chronic exposure. High doses of As or Cd were shown to induce cell death in acute experimental exposure, while chronic exposure triggers cell proliferation and viability, which is no longer limited by telomere shortening and apoptosis. The chronically exposed cells also increase their invasion capacity and tumorigenic potential. At molecular level, malignant transformation is evidenced mainly by up-regulation of BCL-2, MMP-2, MMP-9, VIM, Snail, Twist, MT, MLH and down-regulation of Casp-3, PTEN, E-CAD, and BAX. The signaling pathways most commonly activated are KRAS, p53, TGF-β, TNF-α, WNT, NRF2 and AKT. This knowledge could potentially raise public awareness over the health risks faced by the human population living or working in a polluted environment and smokers. Human exposure to As and Cd should be minimize as much as possible. Healthcare policies targeting people belonging to these risk categories should include analysis of: DNA damage, oxidative stress, molecular alterations, and systemic level of heavy metals and of essential minerals. In this review, we present the literature regarding cellular and molecular alterations caused by exposure to As or Cd, focusing on the malignant transformation of normal epithelial cells after long-term intoxication with these two carcinogens., (Copyright © 2019 Elsevier Inc. All rights reserved.) more...
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- 2019
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42. Agreement between parental and student reports on respiratory symptoms and school environment in young Romanian children - evidence from the SINPHONIE project.
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Lu Y, Marks T, Lin S, Neamtiu IA, Csobod E, and Gurzau E
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- Asthma etiology, Child, Female, Humans, Hypersensitivity etiology, Male, Parents, Prevalence, Respiratory Tract Diseases epidemiology, Respiratory Tract Diseases etiology, Romania epidemiology, Surveys and Questionnaires, Asthma epidemiology, Environment, Hypersensitivity epidemiology, Schools
- Abstract
Background Environmental research involving children often relies on the self-report or parental report of symptoms and environmental issues. While previous studies explored the agreements between child and parental reports, few of them were conducted in younger children and in developing countries. In this study, we addressed the research gaps by assessing the agreement between child and parental report on respiratory symptoms and school environment in Romanian primary schools. Methods Two hundred and eighty students from five schools and their parents participated in this study. Information on child's respiratory symptoms and perceptions of school environment was collected via both student and parent questionnaires. Agreement between the two questionnaires was assessed by absolute agreement rates and kappa statistics. Prevalence index (PI), bias index (BI) and maximum attainable kappas were calculated to identify potential sources of disagreements. Results The agreement between student and parent questionnaires was low. Compared to the student's report, parents often reported more symptoms than their children, particularly flu-like symptoms, and school environment problems. Parent and child tend to agree when there was no symptom reported, but disagreements often occurred when symptoms were reported. After adjusting for the PI, the agreements for asthma and allergic symptoms improved substantially. Disagreement on reporting of flu-like symptoms was strongly affected by pre-existing causes, such as different understandings of the questions between students and parents. Conclusion Parental report may have a higher sensitivity in capturing a child's respiratory symptoms and school environment problems compared to self-report among young children in developing countries. more...
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- 2019
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43. Telomere length, arsenic exposure and risk of basal cell carcinoma of skin.
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Srinivas N, Rachakonda S, Hielscher T, Calderazzo S, Rudnai P, Gurzau E, Koppova K, Fletcher T, and Kumar R
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- Aged, Case-Control Studies, Female, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Arsenic toxicity, Carcinoma, Basal Cell chemically induced, Carcinoma, Basal Cell genetics, Environmental Exposure, Genetic Predisposition to Disease, Skin Neoplasms chemically induced, Skin Neoplasms genetics, Telomere drug effects
- Abstract
Telomere length per se a heritable trait has been reported to be associated with different diseases including cancers. In this study, based on arsenic-exposed 528 cases with basal cell carcinoma (BCC) of skin and 533 healthy controls, we investigated effect of telomere length, measured by real-time PCR, on the disease risk. We observed a statistically significant association between decreased telomere length and increased BCC risk [odds ratio (OR) = 5.92, 95% confidence interval (CI) = 3.92 to 9.01, P < 0.0001]. Due to confounder effect of arsenic exposure, in a two-sample Mendelian randomization (MR), telomere length associated single-nucleotide polymorphisms as instrument variables violated valid assumptions; however, one-sample MR adjusted for arsenic exposure indicated an increased risk of BCC with short telomeres. The interaction between arsenic exposure and telomere length on BCC risk was statistically significant (P = 0.02). Within each tertile based on arsenic exposure, the individuals with shorter telomeres were at an increased risk of BCC, with highest risk being in the highest exposed group (OR = 16.13, 95% CI = 6.71 to 40.00, P < 0.0001), followed by those in medium exposure group and low exposure group. The combined effect of highest arsenic exposure and shortest telomeres on BCC risk (OR = 10.56, 95% CI = 5.14 to 21.70) showed a statistically significant departure from additivity (interaction contrast ratio 6.56, P = 0.03). Our results show that in the presence of arsenic exposure, decreased telomere length predisposes individuals to increased risk of BCC, with the effect being synergistic in individuals with highest arsenic exposure and shortest telomeres., (© The Author(s) 2019. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.) more...
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- 2019
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44. Assessment of heavy metals (total chromium, lead, and manganese) contamination of residential soil and homegrown vegetables near a former chemical manufacturing facility in Tarnaveni, Romania.
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Mihaileanu RG, Neamtiu IA, Fleming M, Pop C, Bloom MS, Roba C, Surcel M, Stamatian F, and Gurzau E
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- Chromium analysis, Environmental Monitoring methods, Humans, Lead analysis, Manganese analysis, Manufacturing and Industrial Facilities, Romania, Metals, Heavy analysis, Soil chemistry, Soil Pollutants analysis, Vegetables chemistry
- Abstract
Our aim was to assess local population exposure to heavy metals resulting from soil and vegetable contamination in Tarnaveni, Romania, an area located near a former chemical factory. We collected residential soil and vegetable samples from Tarnaveni and measured chromium (Cr), lead (Pb), and manganese (Mn) levels by atomic absorption spectrometry. We evaluated the relationship between soil and vegetable metals and the distance from the shuttered chemical factory, and calculated the hazard index to assess local population metal exposure via contaminated vegetable ingestion. Soil metal concentrations ranged between 15.6 and 525.8 mg/kg for total Cr, between 25.4 and 559.5 mg/kg for Pb, and between 363.1 and 1389.6 mg/kg for Mn. We found average concentrations of 17.8 mg/kg for total Cr, 2.2 mg/kg for Pb, and 116.6 mg/kg for Mn in local vegetables. We found soil concentrations for all three metals that exceeded normal background levels according to Romanian regulations (Pb exceeded 100 mg/kg in some of the samples), as well as measurable concentrations of metals in all analyzed vegetable samples. These preliminary data underscore a need for a more extensive investigation into associated adverse health effects in the exposed population. more...
- Published
- 2018
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45. Evidence from SINPHONIE project: Impact of home environmental exposures on respiratory health among school-age children in Romania.
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Lu Y, Lin S, Lawrence WR, Lin Z, Gurzau E, Csobod E, and Neamtiu IA
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- Asthma epidemiology, Child, Female, Humans, Male, Romania epidemiology, Air Pollution, Indoor adverse effects, Environmental Exposure adverse effects, Housing, Respiratory Tract Diseases epidemiology
- Abstract
Background: Exposure to indoor air pollutants at home was found to be associated with respiratory diseases. As lifestyle changes with rapid economic growth in Romania, the aim of our study is to describe the characteristics of Romanian homes and their impact on children's respiratory health., Methods: Self-reported information on respiratory symptoms was collected from 280 Romanian elementary school students in 2011, and the symptoms were categorized into allergy, asthma-like, and flu-like symptoms. Home characteristics and demographic information were collected from questionnaires answered by parents. The association between home characteristics and respiratory health was assessed through multivariate logistic regression controlling for school indoor exposure., Results: As compared to U.S. households, Romanian homes have a higher percentage of smokers, limited use of indoor climate control, and higher use of iron stoves. Exposure to environmental tobacco smoke was associated with both asthma and allergy symptoms. Additional risk factors identified for allergy symptoms include living in apartments, near pesticide sprayed areas, and the use of incense sticks. The significantly higher risk of flu-like symptoms was associated with mold and dampness issues, the use of air conditioner, gas heater/iron stove in children's bedroom., Conclusion: Our findings suggest that an increase in respiratory symptoms among Romanian school-age children can be partly related to their environmental exposure at home. Since most of the identified risk factors are preventable, our results provide critical information and evidence for policymakers, to develop target intervention and education strategies., (Copyright © 2017 Elsevier B.V. All rights reserved.) more...
- Published
- 2018
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46. Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry.
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Figueroa JD, Middlebrooks CD, Banday AR, Ye Y, Garcia-Closas M, Chatterjee N, Koutros S, Kiemeney LA, Rafnar T, Bishop T, Furberg H, Matullo G, Golka K, Gago-Dominguez M, Taylor JA, Fletcher T, Siddiq A, Cortessis VK, Kooperberg C, Cussenot O, Benhamou S, Prescott J, Porru S, Dinney CP, Malats N, Baris D, Purdue MP, Jacobs EJ, Albanes D, Wang Z, Chung CC, Vermeulen SH, Aben KK, Galesloot TE, Thorleifsson G, Sulem P, Stefansson K, Kiltie AE, Harland M, Teo M, Offit K, Vijai J, Bajorin D, Kopp R, Fiorito G, Guarrera S, Sacerdote C, Selinski S, Hengstler JG, Gerullis H, Ovsiannikov D, Blaszkewicz M, Castelao JE, Calaza M, Martinez ME, Cordeiro P, Xu Z, Panduri V, Kumar R, Gurzau E, Koppova K, Bueno-De-Mesquita HB, Ljungberg B, Clavel-Chapelon F, Weiderpass E, Krogh V, Dorronsoro M, Travis RC, Tjønneland A, Brennan P, Chang-Claude J, Riboli E, Conti D, Stern MC, Pike MC, Van Den Berg D, Yuan JM, Hohensee C, Jeppson RP, Cancel-Tassin G, Roupret M, Comperat E, Turman C, De Vivo I, Giovannucci E, Hunter DJ, Kraft P, Lindstrom S, Carta A, Pavanello S, Arici C, Mastrangelo G, Kamat AM, Zhang L, Gong Y, Pu X, Hutchinson A, Burdett L, Wheeler WA, Karagas MR, Johnson A, Schned A, Monawar Hosain GM, Schwenn M, Kogevinas M, Tardón A, Serra C, Carrato A, García-Closas R, Lloreta J, Andriole G Jr, Grubb R 3rd, Black A, Diver WR, Gapstur SM, Weinstein S, Virtamo J, Haiman CA, Landi MT, Caporaso NE, Fraumeni JF Jr, Vineis P, Wu X, Chanock SJ, Silverman DT, Prokunina-Olsson L, and Rothman N more...
- Subjects
- Biomarkers, Tumor genetics, Case-Control Studies, Female, Genetic Association Studies, Genetic Predisposition to Disease genetics, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Male, Polymorphism, Single Nucleotide, Risk Factors, Urinary Bladder Neoplasms ethnology, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 20, Urinary Bladder Neoplasms genetics, White People genetics
- Abstract
Candidate gene and genome-wide association studies (GWAS) have identified 15 independent genomic regions associated with bladder cancer risk. In search for additional susceptibility variants, we followed up on four promising single-nucleotide polymorphisms (SNPs) that had not achieved genome-wide significance in 6911 cases and 11 814 controls (rs6104690, rs4510656, rs5003154 and rs4907479, P < 1 × 10(-6)), using additional data from existing GWAS datasets and targeted genotyping for studies that did not have GWAS data. In a combined analysis, which included data on up to 15 058 cases and 286 270 controls, two SNPs achieved genome-wide statistical significance: rs6104690 in a gene desert at 20p12.2 (P = 2.19 × 10(-11)) and rs4907479 within the MCF2L gene at 13q34 (P = 3.3 × 10(-10)). Imputation and fine-mapping analyses were performed in these two regions for a subset of 5551 bladder cancer cases and 10 242 controls. Analyses at the 13q34 region suggest a single signal marked by rs4907479. In contrast, we detected two signals in the 20p12.2 region-the first signal is marked by rs6104690, and the second signal is marked by two moderately correlated SNPs (r(2) = 0.53), rs6108803 and the previously reported rs62185668. The second 20p12.2 signal is more strongly associated with the risk of muscle-invasive (T2-T4 stage) compared with non-muscle-invasive (Ta, T1 stage) bladder cancer (case-case P ≤ 0.02 for both rs62185668 and rs6108803). Functional analyses are needed to explore the biological mechanisms underlying these novel genetic associations with risk for bladder cancer., (Published by Oxford University Press 2016. This work is written by (a) US Government employee(s) and is in the public domain in the US.) more...
- Published
- 2016
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47. Pregnant women in Timis County, Romania are exposed primarily to low-level (<10μg/l) arsenic through residential drinking water consumption.
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Neamtiu I, Bloom MS, Gati G, Goessler W, Surdu S, Pop C, Braeuer S, Fitzgerald EF, Baciu C, Lupsa IR, Anastasiu D, and Gurzau E
- Subjects
- Abortion, Spontaneous urine, Adult, Arsenic Poisoning complications, Case-Control Studies, Female, Humans, Pregnancy, Pregnancy Complications chemically induced, Pregnancy Outcome, Risk Factors, Romania, Arsenic Poisoning urine, Arsenicals analysis, Drinking Water chemistry, Maternal Exposure adverse effects, Pregnancy Complications urine
- Abstract
Excessive arsenic content in drinking water poses health risks to millions of people worldwide. Inorganic arsenic (iAs) in groundwater exceeding the 10μg/l maximum contaminant level (MCL) set by the World Health Organization (WHO) is characteristic for intermediate-depth aquifers over large areas of the Pannonian Basin in Central Europe. In western Romania, near the border with Hungary, Arad, Bihor, and Timis counties use drinking water coming partially or entirely from iAs contaminated aquifers. In nearby Arad and Bihor counties, more than 45,000 people are exposed to iAs over 10μg/l via public drinking water sources. However, comparable data are unavailable for Timis County. To begin to address this data gap, we determined iAs in 124 public and private Timis County drinking water sources, including wells and taps, used by pregnant women participating in a case-control study of spontaneous loss. Levels in water sources were low overall (median=3.0; range=<0.5-175μg/l), although higher in wells (median=3.1, range=<0.5-1.75) than in community taps (median=2.7, range=<0.5-36.4). In a subsample of 20 control women we measured urine biomarkers of iAs exposure, including iAs (arsenite and arsenate), dimethylarsinic acid (DMA), and methylarsonic acid (MMA). Median values were higher among 10 women using iAs contaminated drinking water sources compared to 10 women using uncontaminated sources for urine total iAs (6.6 vs. 5.0μg/l, P=0.24) and DMA (5.5 vs. 4.2μg/l, P=0.31). The results suggested that the origin of urine total iAs (r=0.35, P=0.13) and DMA (r=0.31, P=0.18) must have been not only iAs in drinking-water but also some other source. Exposure of pregnant women to arsenic via drinking water in Timis County appears to be lower than for surrounding counties; however, it deserves a more definitive investigation as to its origin and the regional distribution of its risk potential., (Copyright © 2015 Elsevier GmbH. All rights reserved.) more...
- Published
- 2015
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48. New basal cell carcinoma susceptibility loci.
- Author
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Stacey SN, Helgason H, Gudjonsson SA, Thorleifsson G, Zink F, Sigurdsson A, Kehr B, Gudmundsson J, Sulem P, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Fuentelsaz V, Corredera C, Gilaberte Y, Grasa M, Planelles D, Sanmartin O, Rudnai P, Gurzau E, Koppova K, Nexø BA, Tjønneland A, Overvad K, Jonasson JG, Tryggvadottir L, Johannsdottir H, Kristinsdottir AM, Stefansson H, Masson G, Magnusson OT, Halldorsson BV, Kong A, Rafnar T, Thorsteinsdottir U, Vogel U, Kumar R, Nagore E, Mayordomo JI, Gudbjartsson DF, Olafsson JH, and Stefansson K more...
- Subjects
- Adolescent, Adult, Aged, Aged, 80 and over, Case-Control Studies, Child, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Iceland, Male, Membrane Proteins, Middle Aged, N-Myc Proto-Oncogene Protein, White People genetics, Young Adult, Carcinoma, Basal Cell genetics, Caspase 8 genetics, GATA3 Transcription Factor genetics, Homeodomain Proteins genetics, Nuclear Proteins genetics, Oncogene Proteins genetics, Proteins genetics, Skin Neoplasms genetics, Transcription Factors genetics
- Abstract
In an ongoing screen for DNA sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conduct a genome-wide association study (GWAS) of 24,988,228 SNPs and small indels detected through whole-genome sequencing of 2,636 Icelanders and imputed into 4,572 BCC patients and 266,358 controls. Here we show the discovery of four new BCC susceptibility loci: 2p24 MYCN (rs57244888[C], OR=0.76, P=4.7 × 10(-12)), 2q33 CASP8-ALS2CR12 (rs13014235[C], OR=1.15, P=1.5 × 10(-9)), 8q21 ZFHX4 (rs28727938[G], OR=0.70, P=3.5 × 10(-12)) and 10p14 GATA3 (rs73635312[A], OR=0.74, P=2.4 × 10(-16)). Fine mapping reveals that two variants correlated with rs73635312[A] occur in conserved binding sites for the GATA3 transcription factor. In addition, expression microarrays and RNA-seq show that rs13014235[C] and a related SNP rs700635[C] are associated with expression of CASP8 splice variants in which sequences from intron 8 are retained. more...
- Published
- 2015
- Full Text
- View/download PDF
49. Genetic variation in arsenic (+3 oxidation state) methyltransferase (AS3MT), arsenic metabolism and risk of basal cell carcinoma in a European population.
- Author
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Engström KS, Vahter M, Fletcher T, Leonardi G, Goessler W, Gurzau E, Koppova K, Rudnai P, Kumar R, and Broberg K
- Subjects
- Adult, Aged, Aged, 80 and over, Carcinoma, Basal Cell epidemiology, Carcinoma, Basal Cell genetics, Case-Control Studies, Europe epidemiology, Female, Follow-Up Studies, Genotype, Humans, Male, Middle Aged, Polymerase Chain Reaction, Risk Factors, White People, Arsenic adverse effects, Arsenic metabolism, Carcinoma, Basal Cell chemically induced, Haplotypes genetics, Methyltransferases genetics, Polymorphism, Single Nucleotide genetics
- Abstract
Exposure to inorganic arsenic increases the risk of basal cell carcinoma (BCC). Arsenic metabolism is a susceptibility factor for arsenic toxicity, and specific haplotypes in arsenic (+3 oxidation state) methyltransferase (AS3MT) have been associated with increased urinary fractions of the most toxic arsenic metabolite, methylarsonic acid (MMA). The aim of this study is to elucidate the association of AS3MT haplotypes with arsenic metabolism and the risk of BCC. Four AS3MT polymorphisms were genotyped in BCC cases (N = 529) and controls (N = 533) from Eastern Europe with low to moderate arsenic exposure (lifetime average drinking water concentration: 1.3 µg/L, range 0.01-167 µg/L). Urinary metabolites [inorganic arsenic (iAs), MMA, dimethylarsinic acid (DMA)] were analyzed by HPLC-ICPMS. Five AS3MT haplotypes (based on rs3740400 A/C, rs3740393 G/C, rs11191439 T/C and rs1046778 T/C) had frequencies >5%. Individuals with the CCTC haplotype had lower %iAs (P = 0.032) and %MMA (P = 0.020) in urine, and higher %DMA (P = 0.033); individuals with the CGCT haplotype had higher %MMA (P < 0.001) and lower %DMA (P < 0.001). All haplotypes showed increased risk of BCC with increasing arsenic exposure through drinking water (ORs 1.1-1.4, P values from <0.001 to 0.082), except for the CCTC haplotype (OR 1.0, CI 0.9-1.2, P value 0.85). The results suggest that carriage of AS3MT haplotypes associated with less-efficient arsenic methylation, or lack of AS3MT haplotypes associated with a more-efficient arsenic methylation, results in higher risk of arsenic-related BCC. The fact that AS3MT haplotype status modified arsenic metabolism, and in turn the arsenic-related BCC risk, supports a causal relationship between low-level arsenic exposure and BCC., (© 2014 The Authors. Environmental and Molecular Mutagenesis published by Wiley Periodicals, Inc. on behalf of Environmental Mutagen Society.) more...
- Published
- 2015
- Full Text
- View/download PDF
50. Inception cohort study of workers exposed to toluene diisocyanate at a polyurethane foam factory: initial one-year follow-up.
- Author
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Gui W, Wisnewski AV, Neamtiu I, Gurzau E, Sparer JA, Stowe MH, Liu J, Slade MD, Rusu OA, and Redlich CA
- Subjects
- Adult, Air Pollutants, Occupational analysis, Airway Obstruction chemically induced, Asthma, Occupational chemically induced, Female, Follow-Up Studies, Forced Expiratory Volume, Humans, Immunoglobulin E blood, Immunoglobulin G blood, Lost to Follow-Up, Male, Middle Aged, Occupational Exposure analysis, Polyurethanes chemical synthesis, Prevalence, Prospective Studies, Time Factors, Toluene 2,4-Diisocyanate analysis, Toluene 2,4-Diisocyanate immunology, Vital Capacity, Young Adult, Air Pollutants, Occupational toxicity, Airway Obstruction epidemiology, Asthma, Occupational epidemiology, Occupational Exposure adverse effects, Toluene 2,4-Diisocyanate toxicity
- Abstract
Background: Isocyanates are one of the most commonly reported causes of occupational asthma; however, the risks of developing isocyanate asthma in modern production facilities remain poorly defined. We evaluated TDI exposure and respiratory health among an inception cohort of workers during their first year of employment at a new polyurethane foam production factory., Methods: Forty-nine newly hired workers were evaluated pre-employment, 6-months, and 12-months post-employment through questionnaire, spirometry, and TDI-specific serology. Airborne TDI levels were monitored by fixed-point air sampling and limited personal sampling. Qualitative surface SWYPE™ tests were performed to evaluate potential sources of skin exposure., Results: Airborne TDI levels overall were low; over 90% of fixed-point air measurements were below the limit of detection (0.1 ppb). Over the first year of employment, 12 of the 49 original workers (24.5%) were lost to follow-up, no additional workers were enrolled, and seven of the 49 original workers (14.2%) developed either new asthma symptoms (N = 3), TDI-specific IgG (N = 1), new airflow obstruction (N = 1) and/or a decline in FEV1 ≥ 15% (N = 3), findings that could indicate TDI-related health effects. The prevalence of current asthma symptoms was significantly higher in the workers lost to follow-up compared to those who completed the 12-month follow-up (25% vs. 2.7%; P = 0.04)., Conclusions: The findings suggest possible early TDI-related health effects in a modern polyurethane production plant. These findings also highlight the need for further longitudinal evaluation of these workers and the challenges of studying workers at risk for isocyanate asthma., (© 2014 Wiley Periodicals, Inc.) more...
- Published
- 2014
- Full Text
- View/download PDF
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