Search

Your search keyword '"Berndt S"' showing total 265 results
Start Over Author "Berndt S" Language english
265 results on '"Berndt S"'

Catalog

Books, media, physical & digital resources
See catalog results

3. Voluntary math remediation for STEM and economics disciplines – who is attending at all? Evidence from Germany.

Author

Büchele, S., Berndt, S., and Felix, A.

Abstract

Most studies on remedial courses are based on their mandatory attendance. However, changes may have occurred in the attendance policy of developmental math courses since the state of Florida decided to overcome obligatory math remediation for unprepared students. Consequently, researchers have recently started focusing on voluntary math remedial courses. In general, literature that goes back to the 1980s suggests that developmental coursework should be mandatory for unprepared first-year students. Since most universities in the US have always followed these recommendations, hardly any empirical evidence exists for the participation of students in voluntary remediation. Conversely, the remedial education system in Europe and particularly Germany is primarily voluntary. Therefore, this study exploratively examines the participation of students in two optional developmental math courses: a so-called preparatory course and a so-called bridging course. The findings suggest that summer-school-like preparatory courses miss their target group of at-risk students, whereas semester-running bridging courses reach it. [ABSTRACT FROM AUTHOR] more...

Published
2024
Full Text
View/download PDF

4. TET2 binds the androgen receptor and loss is associated with prostate cancer

Author

Nickerson, M L, Das, S, Im, K M, Turan, S, Berndt, S I, Li, H, Lou, H, Brodie, S A, Billaud, J N, Zhang, T, Bouk, A J, Butcher, D, Wang, Z, Sun, L, Misner, K, Tan, W, Esnakula, A, Esposito, D, Huang, W Y, Hoover, R N, Tucker, M A, Keller, J R, Boland, J, Brown, K, Anderson, S K, Moore, L E, Isaacs, W B, Chanock, S J, Yeager, M, Dean, M, and Andresson, T more...

Published
2017
Full Text
View/download PDF

13. Holmium-166m measurements with AMS for the ECHo-project

Author

Rugel, G., Berndt, S., Düllmann, C. E., Dorrer, H., Forstner, O., Kieck, T., Kneip, N., Lachner, J., Merchel, S., Vivo Vilches, C., Wallner, A., and Wendt, K.

Abstract

The Electron Capture in ¹⁶³Ho experiment (ECHo) aims at measuring the mass of the electron neutrino by analysing the EC spectrum of the long-lived radionuclide ¹⁶³Ho (T_1/2 = 4570 a) with a metallic magnetic calorimeter (MMC). For the determination of a reasonable upper limit for the neutrino mass it is mandatory to keep the contamination with the long-lived radionuclide ¹⁶⁶mHo (T_1/2 = 1132.6 a) nine orders of magnitude below the ¹⁶³Ho content. The ion-implantation of ultra-pure ¹⁶³Ho into a MMC for the experiment is carried out by the RISIKO (Resonance Ionization Spectroscopy in KOllinear geometry) mass separator. The separation from ¹⁶⁶mHo, however, cannot be guaranteed to such low levels as needed in this project, it can only be estimated. Here we present our approach to determine the corresponding low isotopic ratio with accelerator mass spectrometry (AMS). Of course, this requires the formation of negative ions, where we find the highest negative ion yield for the anion HoO₂−. For first tests, stable ¹⁶⁵Ho was implanted by RISIKO into various different metal foils and we studied the overall Ho detection efficiency for our setup. We will present first results and estimates of the expected detection limit for the ¹⁶⁶mHo/¹⁶³Ho isotope ratio. more...

Published
2021

14. Low-level ¹⁶⁶mHo measurements with AMS for the ECHo-project

Author

Rugel, G., Berndt, S., Düllmann, C. E., Dorrer, H., Forstner, O., Kieck, T., Kneip, N., Lachner, J., Merchel, S., Vivo Vilches, C., Wallner, A., and Wendt, K.

Abstract

The Electron Capture in ¹⁶³Ho experiment (ECHo) aims at measuring the mass of νe by analysing the EC spectrum of the long-lived radionuclide ¹⁶³Ho (T1/2=4570 a) with a metallic magnetic calorimeter (MMC). For the determination of a reasonable upper limit for the neutrino mass it is mandatory to keep any contamination with the long-lived radionuclide 166mHo nine orders of magnitude below the ¹⁶³Ho content. The ion-implantation of ultra-pure ¹⁶³Ho into a MMC for the experiment is carried out by the RISIKO mass separator. The separation from ¹⁶⁶mHo, however, cannot be quantified to such low levels as needed. Here we present our approach to determine the corresponding low isotopic ratio with accelerator mass spectrometry (AMS). This requires the formation of negative ions, we find the highest negative ion yield for the anion HoO₂−. For first tests ¹⁶⁵Ho was implanted by RISIKO in various metal foils and we obtained results for the Ho detection efficieny. This allows for extrapolations for the expected measurement limit of the ¹⁶⁶mHo/¹⁶³Ho ratio. more...

Published
2021

20. Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP

Author

Cheng, T. H. T., Gorman, M., Martin, L., Barclay, E., Casey, G., Newcomb, P. A., Conti, D. V., Schumacher, F. R., Gallinger, S., Lindor, N. M., Hopper, J., Jenkins, M., Hunter, D. J., Kraft, P., Jacobs, K. B., Cox, D. G., Yeager, M., Hankinson, S. E., Wacholder, S., Wang, Z., Welch, R., Hutchinson, A., Wang, J., Yu, K., Chatterjee, N., Orr, N., Willett, W. C., Colditz, G. A., Ziegler, R. G., Berg, C. D., Buys, S. S., McCarty, C. A., Feigelson, H. S., Calle, E. E., Thun, M. J., Hayes, R. B., Tucker, M., Gerhard, D. S., Fraumeni, J. F., Jr., Hoover, R. N., Thomas, G., Chanock, S. J., Ciampa, J., Gonzalez-Bosquet, J., Berndt, S., Amundadottir, L., Diver, W. R., Albanes, D., Virtamo, J., Weinstein, S. J., Cancel-Tassin, G., Cussenot, O., Valeri, A., Andriole, G. L., Crawford, E. D., Haiman, C. A., Henderson, B., Kolonel, L., March, L. L., Siddiq, A., Riboli, E., Key, T. J., Kaaks, R., Isaacs, W., Isaacs, S., Wiley, K. E., Gronberg, H., Wiklund, F., Stattin, P., Xu, J., Zheng, S. L., Sun, J., Vatten, L. J., Hveem, K., Kumle, M., Purdue, M. P., Johansson, M., Zelenika, D., Toro, J. R., Scelo, G., Moore, L. E., Prokhortchouk, E., Wu, X., Kiemeney, L. A., Gaborieau, V., Chow, W. -H., Zaridze, D., Matveev, V., Lubinski, J., Trubicka, J., Szeszenia-Dabrowska, N., Lissowska, J., Rudnai, P., Fabianova, E., Bucur, A., Bencko, V., Foretova, L., Janout, V., Boffetta, P., Colt, J. S., Davis, F. G., Schwartz, K. L., Banks, R. E., Selby, P. J., Harnden, P., Hsing, A. W., Grubb, R. L., III, Boeing, H., Vineis, P., Clavel-Chapelon, F., Palli, D., Tumino, R., Krogh, V., Panico, S., Duell, E. J., Quirós, J. R., Sanchez, M. -J., Navarro, C., Ardanaz, E., Dorronsoro, M., Khaw, K. -T., Allen, N. E., Bueno-de-Mesquita, H. B., Peeters, P. H. M., Trichopoulos, D., Linseisen, J., Ljungberg, B., Overvad, K., Tjønnel, Romieu, I., Mukeria, A., Shangina, O., Stevens, V. L., Gapstur, S. M., Pharoah, P. D., Easton, D. F., Njølstad, I., Tell, G. S., Stoltenberg, C., Kumar, R., Koppova, K., Benhamou, S., Oosterwijk, E., Vermeulen, S. H., Aben, K. K. H., Van Der Marel, S. L., Ye, Y., Wood, C. G., Pu, X., Mazur, A. M., Boulygina, E. S., Chekanov, N. N., Foglio, M., Lechner, D., Gut, I., Heath, S., Blanche, H., Skryabin, K. G., McKay, J. D., Rothman, N., Lathrop, M., Brennan, P., Saunders, B., Thomas, H., Clark, S., Tomlinson, I., and Cheng, T.H.T. and Gorman, M. and Martin, L. and Barclay, E. and Casey, G. and Newcomb, P.A. and Conti, D.V. and Schumacher, F.R. and Gallinger, S. and Lindor, N.M. and Hopper, J. and Jenkins, M. and Hunter, D.J. and Kraft, P. and Jacobs, K.B. and Cox, D.G. and Yeager, M. and Hankinson, S.E. and Wacholder, S. and Wang, Z. and Welch, R. and Hutchinson, A. and Wang, J. and Yu, K. and Chatterjee, N. and Orr, N. and Willett, W.C. and Colditz, G.A. and Ziegler, R.G. and Berg, C.D. and Buys, S.S. and McCarty, C.A. and Feigelson, H.S. and Calle, E.E. and Thun, M.J. and Hayes, R.B. and Tucker, M. and Gerhard, D.S. and Fraumeni, J.F., Jr. and Hoover, R.N. and Thomas, G. and Chanock, S.J. and Ciampa, J. and Gonzalez-Bosquet, J. and Berndt, S. and Amundadottir, L. and Diver, W.R. and Albanes, D. and Virtamo, J. and Weinstein, S.J. and Cancel-Tassin, G. and Cussenot, O. and Valeri, A. and Andriole, G.L. and Crawford, E.D. and Haiman, C.A. and Henderson, B. and Kolonel, L. and Marchand, L.L. and Siddiq, A. and Riboli, E. and Key, T.J. and Kaaks, R. and Isaacs, W. and Isaacs, S. and Wiley, K.E. and Gronberg, H. and Wiklund, F. and Stattin, P. and Xu, J. and Zheng, S.L. and Sun, J. and Vatten, L.J. and Hveem, K. and Kumle, M. and Purdue, M.P. and Johansson, M. and Zelenika, D. and Toro, J.R. and Scelo, G. and Moore, L.E. and Prokhortchouk, E. and Wu, X. and Kiemeney, L.A. and Gaborieau, V. and Chow, W.-H. and Zaridze, D. and Matveev, V. and Lubinski, J. and Trubicka, J. and Szeszenia-Dabrowska, N. and Lissowska, J. and Rudnai, P. and Fabianova, E. and Bucur, A. and Bencko, V. and Foretova, L. and Janout, V. and Boffetta, P. and Colt, J.S. and Davis, F.G. and Schwartz, K.L. and Banks, R.E. and Selby, P.J. and Harnden, P. and Hsing, A.W. and Grubb, R.L., III and Boeing, H. and Vineis, P. and Clavel-Chapelon, F. and Palli, D. and Tumino, R. and Krogh, V. and Panico, S. and Duell, E.J. and Quirós, J.R. and Sanchez, M.-J. and Navarro, C. and Ardanaz, E. and Dorronsoro, M. and Khaw, K.-T. and Allen, N.E. and Bueno-de-Mesquita, H.B. and Peeters, P.H.M. and Trichopoulos, D. and Linseisen, J. and Ljungberg, B. and Overvad, K. and Tjønneland, A. and Romieu, I. and Mukeria, A. and Shangina, O. and Stevens, V.L. and Gapstur, S.M. and Pharoah, P.D. and Easton, D.F. and Njølstad, I. and Tell, G.S. and Stoltenberg, C. and Kumar, R. and Koppova, K. and Benhamou, S. and Oosterwijk, E. and Vermeulen, S.H. and Aben, K.K.H. and Van Der Marel, S.L. and Ye, Y. and Wood, C.G. and Pu, X. and Mazur, A.M. and Boulygina, E.S. and Chekanov, N.N. and Foglio, M. and Lechner, D. and Gut, I. and Heath, S. and Blanche, H. and Skryabin, K.G. and McKay, J.D. and Rothman, N. and Lathrop, M. and Brennan, P. and Saunders, B. and Thomas, H. and Clark, S. and Tomlinson, I. more...

Subjects
Male, pathogenesi, genetic association, phenotype, Adenomatous Polyposis Coli Protein, colorectal cancer, Colorectal Neoplasm, cancer risk, gene frequency, Polymorphism, Single Nucleotide, Article, DNA glycosyltransferase, adult, DNA glycosylase MutY, colon polyposi, single nucleotide polymorphism, genetic variability, middle aged, controlled study, Genetic Predisposition to Disease, human, DNA Glycosylase, Germ-Line Mutation, Aged, colorectal adenoma, Allele, modifier gene, Genes, Modifier, disease predisposition, APC protein, human, major clinical study, digestive system diseases, human tissue, APC protein, female, priority journal, Adenomatous Polyposis Coli, germline mutation, familial colon polyposi, adenoma, single nucleotide polymorphism, Adenoma, genetic, genetic predisposition
Abstract

The presence of multiple (5-100) colorectal adenomas suggests an inherited predisposition, but the genetic aetiology of this phenotype is undetermined if patients test negative for Mendelian polyposis syndromes such as familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP). We investigated whether 18 common colorectal cancer (CRC) predisposition single-nucleotide polymorphisms (SNPs) could help to explain some cases with multiple adenomas who phenocopied FAP or MAP, but had no pathogenic APC or MUTYH variant. No multiple adenoma case had an outlying number of CRC SNP risk alleles, but multiple adenoma patients did have a significantly higher number of risk alleles than population controls (P = 5.7 × 10-7). The association was stronger in those with ≥ 10 adenomas. The CRC SNPs accounted for 4.3% of the variation in multiple adenoma risk, with three SNPs (rs6983267, rs10795668, rs3802842) explaining 3.0% of the variation. In FAP patients, the CRC risk score did not differ significantly from the controls, as we expected given the overwhelming effect of pathogenic germline APC variants on the phenotype of these cases. More unexpectedly, we found no evidence that the CRC SNPs act as modifier genes for the number of colorectal adenomas in FAP patients. In conclusion, common colorectal tumour risk alleles contribute to the development of multiple adenomas in patients without pathogenic germline APC or MUTYH variants. This phenotype may have 'polygenic' or monogenic origins. The risk of CRC in relatives of multiple adenoma cases is probably much lower for cases with polygenic disease, and this should be taken into account when counselling such patients. © 2015 Macmillan Publishers Limited All rights reserved. more...

Published
2015

21. Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index

Author

Hoggart, C, Venturini, G, Mangino, M, Gomez, F, Ascari, G, Zhao, J, Teumer, A, Winkler, T, Tšernikova, N, Luan, J, Mihailov, E, Ehret, G, Zhang, W, Lamparter, D, Esko, T, Macé, A, Rüeger, S, Bochud, P, Barcella, M, Dauvilliers, Y, Benyamin, B, Evans, D, Hayward, C, Lopez, M, Franke, L, Russo, A, Heid, I, Salvi, E, Vendantam, S, Arking, D, Boerwinkle, E, Chambers, J, Fiorito, G, Grallert, H, Guarrera, S, Homuth, G, Huffman, J, Porteous, D, Berg, J, Blackwood, D, Campbell, H, Cavanagh, J, Connell, J, Connor, M, Cunningham Burley, S, Deary, I, Dominiczak, A, Ellis, P, Fitzpatrick, B, Ford, I, Gertz, R, Grau, A, Haddow, G, Jackson, C, Kerr, S, Lindsay, R, Mcgilchrist, M, Mcintyre, D, Morris, A, Morton, R, Muir, W, Murray, G, Palmer, C, Pell, J, Philp, A, Porteous, M, Procter, R, Ralston, S, Reid, D, Sinnott, R, Smith, B, St Clair, D, Sullivan, F, Sweetland, M, Ure, J, Watt, G, Wolf, R, Wright, A, de Bakker, P, Bültmann, U, Geleijnse, M, Harst, P, Koppelman, G, Rosmalen, J, van Rossum, L, Smidt, H, Swertz, M, Stolk, R, Alizadeh, B, de Boer, R, Boezen, H, Bruinenberg, M, van der Harst, P, Hillege, H, van der Klauw, M, Navis, G, Ormel, J, Postma, D, Slaets, J, Snieder, H, Wolffenbuttel, B, Wijmenga, C, Berndt, S, Gustafsson, S, Mägi, R, Ganna, A, Wheeler, E, Feitosa, M, Justice, A, Monda, K, Croteau Chonka, D, Day, F, Fall, T, Ferreira, T, Gentilini, D, Jackson, A, Randall, J, Vedantam, S, Willer, C, Wood, A, Workalemahu, T, Hu, Y, Lee, S, Liang, L, Lin, D, Min, J, Neale, B, Thorleifsson, G, Yang, J, Albrecht, E, Amin, N, Bragg Gresham, J, Cadby, G, den Heijer, M, Eklund, N, Fischer, K, Goel, A, Hottenga, J, Jarick, I, Johansson, A, Johnson, T, Kanoni, S, Kleber, M, König, I, Kristiansson, K, Kutalik, Z, Lamina, C, Lecoeur, C, Li, G, Mcardle, W, Medina Gomez, C, Müller Nurasyid, M, Ngwa, J, Nolte, I, Paternoster, L, Pechlivanis, S, Perola, M, Peters, M, Preuss, M, Rose, L, Shi, J, Shungin, D, Smith, A, Strawbridge, R, Surakka, I, Trip, M, Tyrer, J, Van Vliet Ostaptchouk, J, Vandenput, L, Waite, L, Absher, D, Asselbergs, F, Atalay, M, Attwood, A, Balmforth, A, Basart, H, Beilby, J, Bonnycastle, L, BRAMBILLA, PAOLO, Chasman, D, Chines, P, Collins, F, Cookson, W, de Faire, U, de Vegt, F, Dei, M, Dimitriou, M, Edkins, S, Estrada, K, Farrall, M, Ferrario, M, Ferrières, J, Frau, F, Gejman, P, Grönberg, H, Gudnason, V, Hall, A, Hall, P, Hartikainen, A, Heard Costa, N, Heath, A, Hebebrand, J, Hu, F, Hunt, S, Hyppönen, E, Iribarren, C, Jacobs, K, Jansson, J, Jula, A, Kähönen, M, Kathiresan, S, Kee, F, Khaw, K, Kivimaki, M, Koenig, W, Kraja, A, Kumari, M, Karikuulasmaa, N, Kuusisto, J, Laitinen, J, Lakka, T, Langenberg, C, Launer, L, Lind, L, Lindström, J, Liu, J, Liuzzi, A, Lokki, M, Lorentzon, M, Madden, P, Magnusson, P, Manunta, P, Marek, D, März, W, Leach, I, Mcknight, B, Medland, S, Milani, L, Montgomery, G, Mooser, V, Mühleisen, T, Munroe, P, Musk, A, Narisu, N, Nicholson, G, Nohr, E, Ong, K, Oostra, B, Palotie, A, Peden, J, Pedersen, N, Peters, A, Polasek, O, Pouta, A, Pramstaller, P, Prokopenko, I, Pütter, C, Radhakrishnan, A, Raitakari, O, Rendon, A, Rivadeneira, F, Rudan, I, Saaristo, T, Sambrook, J, Sanders, A, Sanna, S, Saramies, J, Schipf, S, Schreiber, S, Schunkert, H, Shin, S, Signorini, S, Sinisalo, J, Skrobek, B, Soranzo, N, Stancakova, A, Stark, K, Stephens, J, Stirrups, K, Stumvoll, M, Swift, A, Theodoraki, E, Thorand, B, Tregouet, D, Tremoli, E, Van der Klauw, M, van Meurs, J, Vermeulen, S, Viikari, J, Virtamo, J, Vitart, V, Waeber, G, Wang, Z, Widen, E, Wild, S, Willemsen, G, Winkelmann, B, Witteman, J, Wong, A, Zillikens, M, Amouyel, P, Boehm, B, Boomsma, D, Caulfield, M, Chanock, S, Cupples, L, Cusi, D, Dedoussis, G, Erdmann, J, Eriksson, J, Franks, P, Froguel, P, Gieger, C, Gyllensten, U, Hamsten, A, Harris, T, Hengstenberg, C, Hicks, A, Hingorani, A, Hinney, A, Hofman, A, Hovingh, K, Hveem, K, Illig, T, Jarvelin, M, Jöckel, K, Keinanen Kiukaanniemi, S, Kiemeney, L, Kuh, D, Laakso, M, Lehtimäki, T, Levinson, D, Martin, N, Metspalu, A, Nieminen, M, Njølstad, I, Ohlsson, C, Oldehinkel, A, Ouwehand, W, Palmer, L, Penninx, B, Power, C, Province, M, Psaty, B, Qi, L, Rauramaa, R, Ridker, P, Ripatti, S, Salomaa, V, Samani, N, Sørensen, T, Spector, T, Stefansson, K, Tönjes, A, Tuomilehto, J, Uitterlinden, A, Uusitupa, M, Vollenweider, P, Wallaschofski, H, Wareham, N, Watkins, H, Wichmann, H, Wilson, J, Abecasis, G, Assimes, T, Barroso, I, Boehnke, M, Borecki, I, Deloukas, P, Fox, C, Frayling, T, Groop, L, Haritunian, T, Hunter, D, Kaplan, R, Karpe, F, Miriammoffatt, N, Mohlke, K, O'Connell, J, Pawitan, Y, Schadt, E, Schlessinger, D, Steinthorsdottir, V, Strachan, D, Thorsteinsdottir, U, van Duijn, C, Visscher, P, Di Blasio, A, Hirschhorn, J, Lindgren, C, Meyre, D, Scherag, A, Mccarthy, M, Speliotes, E, North, K, Loos, R, Ingelsson, E, Moradpour, D, Iranzo, A, Kemp, J, Lammers, G, Aubert, V, Heim, M, Peraita Adrados, R, Santamaria, J, Negro, F, Schmidt, C, Scott, R, Strauch, K, Völzke, H, Yuan, W, Bell, J, Chakravarti, A, Kooner, J, Matullo, G, Whitfield, J, Paccaud, F, Bergmann, S, Beckmann, J, Tafti, M, Hastie, N, Bochud, M, Da Smith, G, Rousson, V, Rivolta, C, Kutalik, Z., Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Biological Psychology, EMGO+ - Lifestyle, Overweight and Diabetes, Hoggart, Clive J, Venturini, Giulia, Mangino, Massimo, Gomez, Felicia, Benyamin, Beben, Kutalik, Zoltan, Generation Scotland Consortium, GIANT Consortium, LifeLines Cohort study, Cardiology, Vascular Medicine, Plastic, Reconstructive and Hand Surgery, Amsterdam Cardiovascular Sciences, Medical Research Council (MRC), Psychiatry, EMGO - Lifestyle, overweight and diabetes, Haartman Institute (-2014), Transplantation Laboratory, Luan, Jian'an [0000-0003-3137-6337], Wareham, Nicholas [0000-0003-1422-2993], Apollo - University of Cambridge Repository, Hoggart, Cj, Venturini, G, Mangino, M, Gomez, F, Ascari, G, Zhao, Jh, Teumer, A, Winkler, Tw, Tšernikova, N, Luan, J, Mihailov, E, Ehret, Gb, Zhang, W, Lamparter, D, Esko, T, Macé, A, Rüeger, S, Bochud, Py, Barcella, M, Dauvilliers, Y, Benyamin, B, Evans, Dm, Hayward, C, Lopez, Mf, Franke, L, Russo, A, Heid, Im, Salvi, E, Vendantam, S, Arking, De, Boerwinkle, E, Chambers, Jc, Fiorito, G, Grallert, H, Guarrera, S, Homuth, G, Huffman, Je, Porteous, D, GENERATION SCOTLAND, Consortium, LIFELINES COHORT, Study, Giant, Consortium, Manunta, Paolo, Moradpour, D, Iranzo, A, Hebebrand, J, Kemp, Jp, Lammers, Gj, Aubert, V, Heim, Mh, Martin, Ng, Montgomery, Gw, PERAITA ADRADOS, R, Santamaria, J, Negro, F, Schmidt, Co, Scott, Ra, Spector, Td, Strauch, K, Völzke, H, Wareham, Nj, Yuan, W, Bell, Jt, Chakravarti, A, Kooner, J, Peters, A, Matullo, G, Wallaschofski, H, Whitfield, Jb, Paccaud, F, Vollenweider, P, Bergmann, S, Beckmann, J, Tafti, M, Hastie, Nd, Cusi, D, Bochud, M, Frayling, Tm, Metspalu, A, Jarvelin, Mr, Scherag, A, Smith, Gd, Borecki, Ib, Rousson, V, Hirschhorn, Jn, Rivolta, C, Loos, Rj, Kutalik, Z., Hoggart, C, Zhao, J, Winkler, T, Ehret, G, Bochud, P, Evans, D, Lopez, M, Heid, I, Arking, D, Chambers, J, Huffman, J, Berg, J, Blackwood, D, Campbell, H, Cavanagh, J, Connell, J, Connor, M, Cunningham Burley, S, Deary, I, Dominiczak, A, Ellis, P, Fitzpatrick, B, Ford, I, Gertz, R, Grau, A, Haddow, G, Jackson, C, Kerr, S, Lindsay, R, Mcgilchrist, M, Mcintyre, D, Morris, A, Morton, R, Muir, W, Murray, G, Palmer, C, Pell, J, Philp, A, Porteous, M, Procter, R, Ralston, S, Reid, D, Sinnott, R, Smith, B, St Clair, D, Sullivan, F, Sweetland, M, Ure, J, Watt, G, Wolf, R, Wright, A, de Bakker, P, Bültmann, U, Geleijnse, M, Harst, P, Koppelman, G, Rosmalen, J, van Rossum, L, Smidt, H, Swertz, M, Stolk, R, Alizadeh, B, de Boer, R, Boezen, H, Bruinenberg, M, van der Harst, P, Hillege, H, van der Klauw, M, Navis, G, Ormel, J, Postma, D, Slaets, J, Snieder, H, Wolffenbuttel, B, Wijmenga, C, Berndt, S, Gustafsson, S, Mägi, R, Ganna, A, Wheeler, E, Feitosa, M, Justice, A, Monda, K, Croteau Chonka, D, Day, F, Fall, T, Ferreira, T, Gentilini, D, Jackson, A, Randall, J, Vedantam, S, Willer, C, Wood, A, Workalemahu, T, Hu, Y, Lee, S, Liang, L, Lin, D, Min, J, Neale, B, Thorleifsson, G, Yang, J, Albrecht, E, Amin, N, Bragg Gresham, J, Cadby, G, den Heijer, M, Eklund, N, Fischer, K, Goel, A, Hottenga, J, Jarick, I, Johansson, A, Johnson, T, Kanoni, S, Kleber, M, König, I, Kristiansson, K, Kutalik, Z, Lamina, C, Lecoeur, C, Li, G, Mcardle, W, Medina Gomez, C, Müller Nurasyid, M, Ngwa, J, Nolte, I, Paternoster, L, Pechlivanis, S, Perola, M, Peters, M, Preuss, M, Rose, L, Shi, J, Shungin, D, Smith, A, Strawbridge, R, Surakka, I, Trip, M, Tyrer, J, Van Vliet Ostaptchouk, J, Vandenput, L, Waite, L, Absher, D, Asselbergs, F, Atalay, M, Attwood, A, Balmforth, A, Basart, H, Beilby, J, Bonnycastle, L, Brambilla, P, Chasman, D, Chines, P, Collins, F, Cookson, W, de Faire, U, de Vegt, F, Dei, M, Dimitriou, M, Edkins, S, Estrada, K, Farrall, M, Ferrario, M, Ferrières, J, Frau, F, Gejman, P, Grönberg, H, Gudnason, V, Hall, A, Hall, P, Hartikainen, A, Heard Costa, N, Heath, A, Hu, F, Hunt, S, Hyppönen, E, Iribarren, C, Jacobs, K, Jansson, J, Jula, A, Kähönen, M, Kathiresan, S, Kee, F, Khaw, K, Kivimaki, M, Koenig, W, Kraja, A, Kumari, M, Karikuulasmaa, N, Kuusisto, J, Laitinen, J, Lakka, T, Langenberg, C, Launer, L, Lind, L, Lindström, J, Liu, J, Liuzzi, A, Lokki, M, Lorentzon, M, Madden, P, Magnusson, P, Manunta, P, Marek, D, März, W, Leach, I, Mcknight, B, Medland, S, Milani, L, Montgomery, G, Mooser, V, Mühleisen, T, Munroe, P, Musk, A, Narisu, N, Nicholson, G, Nohr, E, Ong, K, Oostra, B, Palotie, A, Peden, J, Pedersen, N, Polasek, O, Pouta, A, Pramstaller, P, Prokopenko, I, Pütter, C, Radhakrishnan, A, Raitakari, O, Rendon, A, Rivadeneira, F, Rudan, I, Saaristo, T, Sambrook, J, Sanders, A, Sanna, S, Saramies, J, Schipf, S, Schreiber, S, Schunkert, H, Shin, S, Signorini, S, Sinisalo, J, Skrobek, B, Soranzo, N, Stancakova, A, Stark, K, Stephens, J, Stirrups, K, Stumvoll, M, Swift, A, Theodoraki, E, Thorand, B, Tregouet, D, Tremoli, E, Van der Klauw, M, van Meurs, J, Vermeulen, S, Viikari, J, Virtamo, J, Vitart, V, Waeber, G, Wang, Z, Widen, E, Wild, S, Willemsen, G, Winkelmann, B, Witteman, J, Wong, A, Zillikens, M, Amouyel, P, Boehm, B, Boomsma, D, Caulfield, M, Chanock, S, Cupples, L, Dedoussis, G, Erdmann, J, Eriksson, J, Franks, P, Froguel, P, Gieger, C, Gyllensten, U, Hamsten, A, Harris, T, Hengstenberg, C, Hicks, A, Hingorani, A, Hinney, A, Hofman, A, Hovingh, K, Hveem, K, Illig, T, Jarvelin, M, Jöckel, K, Keinanen Kiukaanniemi, S, Kiemeney, L, Kuh, D, Laakso, M, Lehtimäki, T, Levinson, D, Martin, N, Nieminen, M, Njølstad, I, Ohlsson, C, Oldehinkel, A, Ouwehand, W, Palmer, L, Penninx, B, Power, C, Province, M, Psaty, B, Qi, L, Rauramaa, R, Ridker, P, Ripatti, S, Salomaa, V, Samani, N, Sørensen, T, Spector, T, Stefansson, K, Tönjes, A, Tuomilehto, J, Uitterlinden, A, Uusitupa, M, Wareham, N, Watkins, H, Wichmann, H, Wilson, J, Abecasis, G, Assimes, T, Barroso, I, Boehnke, M, Borecki, I, Deloukas, P, Fox, C, Frayling, T, Groop, L, Haritunian, T, Hunter, D, Kaplan, R, Karpe, F, Miriammoffatt, N, Mohlke, K, O'Connell, J, Pawitan, Y, Schadt, E, Schlessinger, D, Steinthorsdottir, V, Strachan, D, Thorsteinsdottir, U, van Duijn, C, Visscher, P, Di Blasio, A, Hirschhorn, J, Lindgren, C, Meyre, D, Mccarthy, M, Speliotes, E, North, K, Loos, R, Ingelsson, E, Kemp, J, Lammers, G, Heim, M, Peraita Adrados, R, Schmidt, C, Scott, R, Bell, J, Whitfield, J, Hastie, N, and Da Smith, G more...

Subjects
Epigenomics, Male, Netherlands Twin Register (NTR), body mass index, gene, SNP, Cancer Research, BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICA, Potassium Channels, Glucose Transport Proteins, Facilitative, Medizin, Genome-wide association study, CHILDREN, ddc:616.07, FAMILIES, Body Mass Index, 0302 clinical medicine, Polymorphism (computer science), Genotype, LifeLines Cohort study, GENETICS & HEREDITY, Tandem Pore Domain, Genetics (clinical), ASSOCIATIONS, ddc:616, Genetics, 0303 health sciences, QUANTITATIVE TRAIT LOCI, Ecology, Genomics, Single Nucleotide, Generation Scotland Consortium, Urological cancers Radboud Institute for Health Sciences [Radboudumc 15], OBESITY, Physical Sciences, KCNK9 protein, Epigenetics, Female, ALCOHOLISM, Glucose Transport Proteins, Life Sciences & Biomedicine, Statistics (Mathematics), Human, Research Article, VARIANCES, Adult, PENETRANCE, GENES, lcsh:QH426-470, Evolution, European Continental Ancestry Group, Single-nucleotide polymorphism, Biostatistics, Biology, Quantitative trait locus, Polymorphism, Single Nucleotide, White People, 03 medical and health sciences, Genomic Imprinting, Potassium Channels, Tandem Pore Domain, Genetic, Behavior and Systematics, SDG 3 - Good Health and Well-being, Genetic linkage, GIANT Consortium, Genome-Wide Association Studies, Humans, Genetic Predisposition to Disease, Statistical Methods, Allele, Polymorphism, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Gene Expression Regulation, Genome-Wide Association Study, Obesity, 030304 developmental biology, 0604 Genetics, Science & Technology, LINKAGE ANALYSIS, SLC2A10 protein, Biology and Life Sciences, Computational Biology, Facilitative, Genome Analysis, Ecology, Evolution, Behavior and Systematic, lcsh:Genetics, Inflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5], 3111 Biomedicine, Genomic imprinting, Mathematics, 030217 neurology & neurosurgery, Developmental Biology
Abstract

The phenotypic effect of some single nucleotide polymorphisms (SNPs) depends on their parental origin. We present a novel approach to detect parent-of-origin effects (POEs) in genome-wide genotype data of unrelated individuals. The method exploits increased phenotypic variance in the heterozygous genotype group relative to the homozygous groups. We applied the method to >56,000 unrelated individuals to search for POEs influencing body mass index (BMI). Six lead SNPs were carried forward for replication in five family-based studies (of ∼4,000 trios). Two SNPs replicated: the paternal rs2471083-C allele (located near the imprinted KCNK9 gene) and the paternal rs3091869-T allele (located near the SLC2A10 gene) increased BMI equally (beta = 0.11 (SD), P, Author Summary Large genetic association studies have revealed many genetic factors influencing common traits, such as body mass index (BMI). These studies assume that the effect of genetic variants is the same regardless of whether they are inherited from the mother or the father. In our study, we have developed a new approach that allows us to investigate variants whose impact depends on their parental origin (parent-of-origin effects), in unrelated samples when the parental origin cannot be inferred. This is feasible because at genetic markers at which such effects occur there is increased variability of the trait among individuals who inherited different genetic codes from their mother and their father compared to individuals who inherited the same genetic code from both parents. We applied this methodology to discover genetic markers with parent-of-origin effects (POEs) on BMI. This resulted in six candidate markers showing strong POE association. We then attempted to replicate the POE effects of these markers in family studies (where one can infer the parental origin of the inherited variants). Two of our candidates showed significant association in the family studies, the paternal and maternal effects of these markers were in the opposite direction. more...

Published
2014
Full Text
View/download PDF

22. Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution (Nature Genetics (2010) 42 (949-960))

Author

Heid, I, Jackson, A, Randall, J, Winkler, T, Qi, L, Steinthorsdottir, V, Thorleifsson, G, Zillikens, M, Speliotes, E, Mägi, R, Workalemahu, T, White, C, Bouatia-Naji, N, Harris, T, Berndt, S, Ingelsson, E, Willer, C, Weedon, M, Luan, J, Vedantam, S, Esko, T, Kilpeläinen, T, Kutalik, Z, Li, S, and Monda, K more...

Published
2016

24. Associations between unprocessed red and processed meat, poultry, seafood and egg intake and the risk of prostate cancer: A pooled analysis of 15 prospective cohort studies

Author

Wu, K, Spiegelman, D, Hou, T, Albanes, D, Allen, N, Berndt, S, van den Brandt, P, Giles, G, Giovannucci, E, Alexandra Goldbohm, R, Goodman, G, Goodman, P, Håkansson, N, Inoue, M, Key, T, Kolonel, L, Männistö, S, McCullough, M, Neuhouser, M, Park, Y, Platz, E, Schenk, J, Sinha, R, Stampfer, M, Stevens, V, Tsugane, S, Visvanathan, K, Wilkens, L, Wolk, A, Ziegler, R, Smith-Warner, SA, RS: GROW - R1 - Prevention, RS: CAPHRI - R5 - Optimising Patient Care, and Epidemiologie more...

Subjects
Male, Risk, Prostate cancer, Meat, Eggs, Incidence, Processed meat, Prostatic Neoplasms, Poultry, Article, Diet, Cohort Studies, Life, Seafood, Health, CH - Child Health, Odds Ratio, Egg, Humans, Unprocessed red meat, ELSS - Earth, Life and Social Sciences, Prospective Studies, Healthy for Life, Healthy Living
Abstract

Reports relating meat intake to prostate cancer risk are inconsistent. Associations between these dietary factors and prostate cancer were examined in a consortium of 15 cohort studies. During follow-up, 52,683 incident prostate cancer cases, including 4,924 advanced cases, were identified among 842,149 men. Cox proportional hazard models were used to calculate study-specific relative risks (RR) and then pooled using random effects models. Results do not support a substantial effect of total red, unprocessed red and processed meat for all prostate cancer outcomes, except for a modest positive association for tumors identified as advanced stage at diagnosis (advanced(r)). For seafood, no substantial effect was observed for prostate cancer regardless of stage or grade. Poultry intake was inversely associated with risk of advanced and fatal cancers (pooled multivariable RR [MVRR], 95% confidence interval, comparing ≥45 vs. more...

Published
2016

27. Mendelian randomization study of height and risk of colorectal cancer

Author

Thibodeau, S. N., Lemire, M., Ogino, S., Le Marchand, L., Kury, S., Slattery, M. L., Rudolph, A., Bezieau, S., Song, M., Harrison, T. A., Thornquist, M., Seminara, D., Berndt, S. I., Win, A. K., Yang, J., Duggan, D. J., Esko, T., Peters, U., Wood, A. R., Chan, A. T., Chang-Claude, J., Vedantam, S., Thrift, A. P., Baron, J. A., Cotterchio, M., Gong, J., Du, M., Lindor, N. M., Pers, T. H., Haile, R. W., Gustafsson, S., and Casey, G. more...

Subjects
digestive system diseases
Abstract

Background: For men and women, taller height is associated with increased risk of all cancers combined. For colorectal cancer (CRC), it is unclear whether the differential association of height by sex is real or is due to confounding or bias inherent in observational studies. We performed a Mendelian randomization study to examine the association between height and CRC risk. more...

Published
2015
Full Text
View/download PDF

28. Oriented crystallization of a v-Quartz Solid Solution from a MgO/Al2O3/SiO2 glass in contact with tetragonal ZrO2 ceramics

Author

Berndt, S., Gawronski, A., Patzig, C., Wisniewski, W., Höche, T., Rüssel, C., and Publica

Abstract

Model experiments concerning the nucleation of MgO/Al2O3/SiO2 glass are reported. A glass with the composition 22.5MgO·22.5Al2O3·55SiO2 (in mol%) is brought into contact with ceramic samples of tetragonal ZrO2 at a temperature of 1500 °C. This leads to a heavy corrosion of the ceramics and the diffusion of zirconia into the glass. Subsequent thermal treatments at 820/850 °C and 1050 °C provoke the formation of different phases at the glass/ceramic interface: monoclinic and tetragonal ZrO2, v-quartz solid solution (v-QSS), and spinel. At some distance from the ceramics, the only detected crystalline phase is the highly oriented v-QSS. Only mullite is observed at the air/glass interface where it also grows into the bulk. A sample directly crystallized at 1050 °C shows a very different behavior and only mullite is formed at both the air/glass as well as the glass/ceramic interface. The thermal treatment at the nucleation temperatures of 820/850 °C is thus essential for the precipitation of zirconia and v-QSS in the glass. X-ray diffraction, high resolution (scanning) transmission electron microscopy, and scanning electron microscopy including electron backscatter diffraction are performed to elucidate the underlying mechanisms. more...

Published
2015

29. Polymorphisms of an innate immune gene, toll-like receptor 4, and aggressive prostate cancer risk: A systematic review and meta-analysis

Author

Witte, John, Weng, PH, Huang, YL, Page, JH, Chen, JH, Xu, J, Koutros, S, Berndt, S, Chanock, S, Yeager, M, and Witte, JS

Abstract

© 2014 Weng et al.Background: Toll-like receptor 4 (TLR4) is one of the best known TLR members expressed on the surface of several leukocytes and tissue cells and has a key function in detecting pathogen and danger-associated molecular patterns. The role o more...

Published
2014

32. Genome-wide meta-analyses of smoking behaviors in African Americans

Author

Chen, G K, Bandera, E V, Chanock, S J, Blot, W J, Wessel, J, Deming, S L, Eaton, C B, Hamidovic, A, Buxbaum, S G, Nalls, M A, Bernstein, L, Diver, W R, Kasberger, J L, Ambrosone, C B, Thacker, E L, Becker, L, Broeckel, U, Tranah, G J, Sung, Y J, Bergen, A W, Brown, W M, Caporaso, N, Kim, Y, Evans, M K, Arnett, D, Berndt, S I, Fornage, M, Petruzella, S, Becker, D M, Casey, G, David, S P, and Evans, D S more...

Abstract

The identification and exploration of genetic loci that influence smoking behaviors have been conducted primarily in populations of the European ancestry. Here we report results of the first genome-wide association study meta-analysis of smoking behavior in African Americans in the Study of Tobacco in Minority Populations Genetics Consortium (n=32 389). We identified one non-coding single-nucleotide polymorphism (SNP; rs2036527[A]) on chromosome 15q25.1 associated with smoking quantity (cigarettes per day), which exceeded genome-wide significance (β=0.040, s.e.=0.007, P=1.84 × 10−8). This variant is present in the 5′-distal enhancer region of the CHRNA5 gene and defines the primary index signal reported in studies of the European ancestry. No other SNP reached genome-wide significance for smoking initiation (SI, ever vs never smoking), age of SI, or smoking cessation (SC, former vs current smoking). Informative associations that approached genome-wide significance included three modestly correlated variants, at 15q25.1 within PSMA4, CHRNA5 and CHRNA3 for smoking quantity, which are associated with a second signal previously reported in studies in European ancestry populations, and a signal represented by three SNPs in the SPOCK2 gene on chr10q22.1. The association at 15q25.1 confirms this region as an important susceptibility locus for smoking quantity in men and women of African ancestry. Larger studies will be needed to validate the suggestive loci that did not reach genome-wide significance and further elucidate the contribution of genetic variation to disparities in cigarette consumption, SC and smoking-attributable disease between African Americans and European Americans. more...

Published
2012
Full Text
View/download PDF

33. Effect of source of carbohydrate in concentrate on the performance of high producing dairy cows during spring grazing

Author

Pulido, R G, Berndt, S, Orellana, P, and Wittwer, F

Subjects
cows, milk, leche, concentrado, food and beverages, grazing, vacas, concentrate, pastoreo
Abstract

Two experiments were conducted to evaluate two different sources of carbohydrate (fibrous and starchy) in concentrate supplement for high producing dairy cows fed spring pasture. In experiment 1, 12 Friesian cows producing a daily milk yield of 33.0 kg were assigned to a 3x3 Latin Square design with 21 day periods each. In experiment 2, 27 Friesian cows yielding 29.3 kg/d were assigned to a completely randomized design for 45 days. In both experiments, the treatments included: grazing only (GO), grazing plus 6 kg/d of sugar beet pulp- based concentrate (beet pulp), and grazing plus 6 kg/d of cereal-based concentrate (barley). The cows were supplemented twice a day and managed under a strip grazing system on a pasture consisting mainly of perennial ryegrass. In experiment 1 and 2 the crude protein (CP) content of the concentrates was 17.0 and 11.9%, respectively. In experiment 1, average milk yield and milk composition were similar for the sugar beet pulp-based concentrate and the cereal-based concentrate. In experiment 2 average milk yield and milk fat were similar for the supplemented treatments. The type of concentrate did not affect body weight, bodyweight gain, or body condition score. Concentrate supplementation increased average milk yield (5.0 and 6.0 kg/d for experiments 1 and 2, respectively) and milk protein concentration (0.12 and 0.15 percent units for experiments 1 and 2, respectively).These results were only significant in experiment 1, when compared to grazing only. In experiment 2 the starchy concentrate produced an increase in plasma glucose concentration and a decrease in plasma BHBA and urea-N concentrations. Under these conditions, the results suggest that carbohydrate source did not affect the productive performance of dairy cows but it did improve the metabolic condition. &nbsp, Efecto del tipo de carbohidratos en el concentrado, sobre la respuesta productiva de vacas lecheras de alta producción en pastoreo primaveral. Dos experimentos se implementaron para evaluar dos fuentes de carbohidratos (almidón y fibra digestible) en el suplemento concentrado, sobre parámetros productivos y metabólicos en vacas lecheras de alta producción en pastoreo primaveral con una generosa oferta de pradera. En el experimento 1, 12 vacas produciendo 33 kg/leche por día fueron asignadas a un cuadrado latino con periodos de 21 días cada uno. En el experimento 2, 27 vacas produciendo 29/kg de leche por día fueron asignadas a un diseño completamente al azar por 45 días. Para ambos experimentos los tratamientos fueron: Tratamiento 1: sólo pastoreo (GO), Tratamiento 2: pastoreo + 6 kg de un concentrado basado en pulpa de remolacha (beet pulp) y Tratamiento 3: pastoreo + 6 kg de un concentrado basado en cereal (barley). Las vacas fueron suplementadas dos veces al día y manejadas en pastoreo rotativo en franjas sobre una pradera consistente principalmente en gramíneas. El porcentaje promedio de proteína cruda en la materia seca del concentrado fue de un 17% y un 11,9%, para el experimento 1 y 2, respectivamente. En el primer experimento, la producción y la composición de leche fueron similares para ambos tipos de concentrado. En el segundo experimento, la producción y la concentración grasa de la leche fueron similares en los tratamientos suplementados. El tipo de concentrado no afectó el peso vivo, la ganancia de peso vivo ni la condición corporal de las vacas. La suplementación con concentrado aumentó la producción de leche (5,0 y 6,0 kg/día en el experimento 1 y 2, respectivamente) y la concentración de la proteína (0,12 y 0,15 unidades de porcentaje en los experimentos 1 y 2, respectivamente), siendo sólo significante en el primer experimento, comparado al tratamiento sólo pradera. En el segundo experimento, el concentrado basado en cereal, produjo un aumento de las concentraciones de glucosa en plasma y una disminución de las concentraciones de BHBA y de nitrógeno ureico en plasma (P more...

Published
2007

35. Association of cytochrome P450 1B1 haplotypes with head and neck cancer risk.

Author

Katiyar, Tridiv, Maurya, Shailendra S., Hasan, Feza, Singh, Arvind P., Khan, Anwar J., Hadi, Rahat, Singh, Sudhir, Bhatt, Madan L.B., Parmar, Devendra, and Berndt, S.

Subjects
HEAD & neck cancer, CYTOCHROME P-450, HAPLOTYPES, SINGLE nucleotide polymorphisms, MESSENGER RNA, SQUAMOUS cell carcinoma, GENETICS
Abstract

Genetic polymorphisms have been reported in several cytochrome P450 (CYP) genes, including CYP1B1 which metabolically activates procarcinogens present in tobacco to carcinogenic intermediates. This study used a case-control approach in North Indian population to determine associations between genetic variants in CYP1B1 and risk of Head and Neck Squamous Cell Carcinoma (HNSCC). We examined the genotype and haplotype frequencies at various single-nucleotide polymorphisms (SNPs), including SNPs previously reported in the promoter region and intron 1 of CYP1B1 in Caucasians. Using cycle sequencing, 9 SNPs were identified in the promoter region, intron 1, and exons 2 and 3. Haplotype analysis revealed that 5 SNPs (those in the promoter region, intron, and Arg48Gly and Ala119Ser in exon 2) were in strong linkage disequilibrium (LD). Cases with the T-A-T-G-T haplotype were significantly associated with increased risk of HNSCC. Interestingly, qRT-PCR studies revealed a significant increase in mRNA expression of CYP1B1 in peripheral blood isolated from cases with the T-A-T-G-T haplotype compared with cases with the C-G-C-C-G haplotype, and in cases compared to controls for both main haplotypes. The data thus provide evidence that CYP1B1 haplotypes could be more effective in predicting HNSCC risk. Environ. Mol. Mutagen. 58:443-450, 2017. © 2017 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR] more...

Published
2017
Full Text
View/download PDF

37. Assessment of workers’ knowledge and views of occupational health hazards of gold mining in Obuasi Municipality, Ghana

Author

Michael Atakora and Berndt Stenberg

Subjects
ghana, gold mining, hazards, health problems, occupational health, safety, Public aspects of medicine, RA1-1270
Abstract

Introduction: Small-scale mining in Ghana has been a major community and national concern due to its contribution to the destruction of farmlands and bodies of water, and to the loss of human life. Small-scale mining exposes workers to varying degrees of health hazards and problems. Objectives: The study aimed to assess the knowledge and views of workers about the occupational health hazards and problems related to small-scale gold mining in Obuasi Municipality, Ghana, to help improve workers’ safety at the mining sites. Methods: A cross-sectional study was done between May and December 2011. Simple random sampling was used to select 150 small-scale miners take part in this study. The workers were asked about their knowledge and views of occupational health hazards and problems related to gold mining. Data were entered with EpiData Entry 3.1 and analyzed using Stata 11. Results: Most workers (95, 63.3%) had low knowledge of occupational health and safety regulations. Multivariable logistic regression analysis showed that knowledge about regulations was associated with level of education (OR = 8.5; 95% CI: 7–10.5). The common effects of mining that workers expressed awareness of were land pollution (30%), water pollution (28%), air pollution (18.7%), and noise pollution (16%). The factors influencing exposure to health hazards related to mining were low educational levels (14%), little work experience (30.7%), incorrect handling of equipment or chemicals (26%), poor law enforcement (12.7%), and negligence (16.7%). In general, occupational lung disease (16%), occupational hearing loss (14%), heat illnesses (12%), eye infections (16%), malaria (24%), and skin infections (18%) were the most common health problems study participants mentioned. Conclusion: High levels of occupational health hazards and problems related to gold mining exist among workers in private mines. Safety program should be offered as part of associated public health programs to limit the most significant risks. We further recommend education and training on regulations and the use of personal protective equipment. more...

Published
2020

38. Gene-environment interaction between the MMP9 C-1562T promoter variant and cigarette smoke in the pathogenesis of chronic obstructive pulmonary disease.

Author

Stankovic, Marija, Kojic, Snezana, Djordjevic, Valentina, Tomovic, Andrija, Nagorni‐Obradovic, Ljudmila, Petrovic‐Stanojevic, Natasa, Mitic‐Milikic, Marija, Radojkovic, Dragica, and Berndt, S.

Subjects
GENOTYPE-environment interaction, OBSTRUCTIVE lung diseases, PHYSIOLOGICAL effects of tobacco, SMOKING, HEALTH, ALLELES, DISEASE risk factors
Abstract

The aetiology of chronic obstructive pulmonary disease (COPD) is complex. While cigarette smoking is a well-established cause of COPD, a myriad of assessed genetic factors has given conflicting data. Since gene-environment interactions are thought to be implicated in aetiopathogenesis of COPD, we aimed to examine the matrix metalloproteinase ( MMP) 9 C-1562T (rs3918242) functional variant and cigarette smoke in the pathogenesis of this disease. The distribution of the MMP9 C-1562T variant was analyzed in COPD patients and controls with normal pulmonary function from Serbia. Interaction between the C-1562T genetic variant and cigarette smoking was assessed using a case-control model. The response of the C-1562T promoter variant to cigarette smoke condensate (CSC) exposure was examined using a dual luciferase reporter assay. The frequency of T allele carriers was higher in the COPD group than in smoker controls (38.4% vs. 20%; OR = 2.7, P = 0.027). Interaction between the T allele and cigarette smoking was identified in COPD occurrence (OR = 4.38, P = 0.005) and severity ( P = 0.001). A functional analysis of the C-1562T variant demonstrated a dose-dependent and allele-specific response ( P < 0.01) to CSC. Significantly higher MMP9 promoter activity following CSC exposure was found for the promoter harboring the T allele compared to the promoter harboring the C allele ( P < 0.05). Our study is the first to reveal an interaction between the MMP9-1562T allele and cigarette smoke in COPD, emphasising gene-environment interactions as a possible cause of lung damage in the pathogenesis of COPD. Environ. Mol. Mutagen. 57:447-454, 2016. © 2016 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR] more...

Published
2016
Full Text
View/download PDF

39. Patch Testing with a New Composition of Mercapto Mix: A Multi­centre Study by the Swedish Contact Dermatitis Research Group

Author

Malin Engfeldt, Marléne Isaksson, Bo Glas, Lina Hagvall, Anna Löfnertz Petersson, Mihály Matura, Berndt Stenberg, Cecilia Svedman, and Magnus Bruze

Subjects
allergic contact dermatitis, contact allergy, 2-mercaptobenzothiazole, mercapto mix, rubber, delayed hypersensitivity, Dermatology, RL1-803
Abstract

This study investigated whether more patients with contact allergies were detected by patch testing with mercapto mix with a higher concentration of 2-mercaptobenzothiazolinone (MBT) than the commonly used mercapto mix. A total of 3,143 dermatitis patients in 5 Swedish dermatology departments were patch- tested with 3 mercapto test preparations: MBT 2.0% petrolatum (pet.); mercapto mix 2.0% pet.; and mercapto mix 3.5% pet. Positive reactions to these mercapto mixes varied between 0–0.50%, 0–0.93%, and 0–1.4%, respectively, in the 5 centres. Numerically, mercapto mix 3.5% pet. detected all positive patients and more patch-test positive patients than did the 2 other substances, but the difference was not statistically significant. The authors recommend replacing mercapto mix 2.0% pet. in the Swedish baseline series with mercapto mix 3.5% pet., since the latter also detected those patients who would have been missed because MBT 2.0% is not included in the Swedish baseline series. more...

Published
2019
Full Text
View/download PDF

40. Interference from slotted walls

Author

Berndt, S. B

Subjects
Aerodynamics
Abstract

Wall interference is made predominant in tunnel models and by wall geometries to facilitate the study of slot flow. The viscous effects in slots are studied by two dimensional measurements of flow. Wall interference is assessed by measuring pressure distributions at two levels near the walls. Interference on lifting delta wings is calculated. Pressure distributions at inner boundaries show basis axisymetries between the pressure side and the suction side, pointing to the necessity of having wider slots on the pressure side. more...

Published
1984

41. SaaS-platform for mobile health applications.

Author

Berndt, R-D., Takenga, M. C., Kuehn, S., Preik, P., Sommer, G., and Berndt, S.

Abstract

Involving information and communication technology in health solutions has shown to raise satisfaction for both health care providers and patients. Several research works have been focusing on this issue, since it appears to be the suited solution for reaching an economically and socially viable solution to the increasing number of chronically ill patients which is currently stressing the healthcare systems. In today's context, Software as a Service (SaaS), a model in which software and its associated data are hosted centrally and are typically accessed by users using client interfaces, has become a common delivery model for several applications. However, security and privacy issues have to be given more attention in most of these implementation environments. This paper introduces an innovative SaaS-Platform suited for the implementation of mobile health solutions. The platform utilizes state-of-the art technologies in information and communication systems. It follows the principles of services oriented architecture and delivers services as a SaaS. The SaaS-Platform has a four-layer architecture model which includes the middle layer, the application layer, the communication layer and the user layer. At the application layer, solutions can be presented as web-interfaces, mobile-interfaces or client software. Basic tasks such as secure data communication, secure data storage, user management and easy-to-use interfaces are offered by the SaaS-Platform. The architecture and basic functions of the platform will be presented. The implementation of a number of telemedical and e-Health solutions on this Platform has been performed successfully. [ABSTRACT FROM PUBLISHER] more...

Published
2012
Full Text
View/download PDF

42. Factors associated with oxidative stress and cancer risk in the Breast and Prostate Cancer Cohort Consortium.

Author

Blein, S., Berndt, S., Joshi, A. D., Campa, D., Ziegler, R. G., Riboli, E., Cox, D. G., Gaudet, M. M., Stevens, V. L., Diver, W. R., Gapstur, S. M., Chanock, S. J., Hoover, R. N., Yeager, M., Albanes, D., Virtamo, J., Crawford, E. D., Isaacs, C., Berg, C., and Trichopoulos, D. more...

Subjects
*OXIDATIVE stress, *BREAST cancer risk factors, *PROSTATE cancer risk factors, *HUMAN genetic variation, *REACTIVE oxygen species, *SUPEROXIDE dismutase, *GLUTATHIONE peroxidase
Abstract

Both endogenous factors (genomic variations) and exogenous factors (environmental exposures, lifestyle) impact the balance of reactive oxygen species (ROS). Variants of the ND3 (rs2853826; G10398A) gene of the mitochondrial genome, manganese superoxide dismutase ( MnSOD; rs4880 Val16Ala) and glutathione peroxidase ( GPX-1; rs1050450 Pro198Leu), are purported to have functional effects on regulation of ROS balance. In this study, we examined associations of breast and prostate cancer risks and survival with these variants, and interactions between rs4880-rs1050450, and alcohol consumption-rs2853826. Nested case-control studies were conducted in the Breast and Prostate Cancer Cohort Consortium (BPC3), consisting of nine cohorts. The analyses included over 10726 post-menopausal breast and 7532 prostate cancer cases with matched controls. Logistic regression models were used to evaluate associations with risk, and proportional hazard models were used for survival outcomes. We did not observe significant interactions between polymorphisms in MnSOD and GPX-1, or between mitochondrial polymorphisms and alcohol intake and risk of either breast (p-interaction of 0.34 and 0.98, respectively) or prostate cancer (p-interaction of 0.49 and 0.50, respectively). We observed a weak inverse association between prostate cancer risk and GPX-1 Leu198Leu carriers (OR 0.87, 95% CI 0.79-0.97, p = 0.01). Overall survival among women with breast cancer was inversely associated with G10398 carriers who consumed alcohol (HR 0.66 95% CI 0.49-0.88). Given the high power in our study, it is unlikely that interactions tested have more than moderate effects on breast or prostate cancer risk. Observed associations need both further epidemiological and biological confirmation. [ABSTRACT FROM AUTHOR] more...

Published
2014
Full Text
View/download PDF

43. Common genetic variants in the 9p21 region and their associations with multiple tumours.

Author

Gu, F, Pfeiffer, R M, Bhattacharjee, S, Han, S S, Taylor, P R, Berndt, S, Yang, H, Sigurdson, A J, Toro, J, Mirabello, L, Greene, M H, Freedman, N D, Abnet, C C, Dawsey, S M, Hu, N, Qiao, Y-L, Ding, T, Brenner, A V, Garcia-Closas, M, and Hayes, R more...

Subjects
HUMAN genetic variation, CARCINOGENESIS, THYROID cancer, ENDOMETRIAL cancer, RENAL cell carcinoma
Abstract

Background:The chromosome 9p21.3 region has been implicated in the pathogenesis of multiple cancers.Methods:We systematically examined up to 203 tagging SNPs of 22 genes on 9p21.3 (19.9-32.8 Mb) in eight case-control studies: thyroid cancer, endometrial cancer (EC), renal cell carcinoma, colorectal cancer (CRC), colorectal adenoma (CA), oesophageal squamous cell carcinoma (ESCC), gastric cardia adenocarcinoma and osteosarcoma (OS). We used logistic regression to perform single SNP analyses for each study separately, adjusting for study-specific covariates. We combined SNP results across studies by fixed-effect meta-analyses and a newly developed subset-based statistical approach (ASSET). Gene-based P-values were obtained by the minP method using the Adaptive Rank Truncated Product program. We adjusted for multiple comparisons by Bonferroni correction.Results:Rs3731239 in cyclin-dependent kinase inhibitors 2A (CDKN2A) was significantly associated with ESCC (P=7 × 10−6). The CDKN2A-ESCC association was further supported by gene-based analyses (Pgene=0.0001). In the meta-analyses by ASSET, four SNPs (rs3731239 in CDKN2A, rs615552 and rs573687 in CDKN2B and rs564398 in CDKN2BAS) showed significant associations with ESCC and EC (P<2.46 × 10−4). One SNP in MTAP (methylthioadenosine phosphorylase) (rs7023329) that was previously associated with melanoma and nevi in multiple genome-wide association studies was associated with CRC, CA and OS by ASSET (P=0.007).Conclusion:Our data indicate that genetic variants in CDKN2A, and possibly nearby genes, may be associated with ESCC and several other tumours, further highlighting the importance of 9p21.3 genetic variants in carcinogenesis. [ABSTRACT FROM AUTHOR] more...

Published
2013
Full Text
View/download PDF

44. Comparative expression of hCG β-genes in human trophoblast from early and late first-trimester placentas.

Author

Cocquebert, M., Berndt, S., Segond, N., Guibourdenche, J., Murthi, P., Aldaz-Carroll, L., Evain-Brion, D., and Fournier, T.

Abstract

Human chorionic gonadotropin (hCG) displays a major role in pregnancy initiation and progression and is involved in trophoblast differentiation and fusion. However, the site and the type of dimeric hCG production during the first trimester of pregnancy is poorly known. At that time, trophoblastic plugs present in the uterine arteries disappear, allowing unrestricted flow of maternal blood to the intervillous space. The consequence is an important modification of the trophoblast environment, including a rise of oxygen levels from about 2.5% before 10 wk of amenorrhea (WA) to ∼8% after 12 WA. Two specific β-hCG proteins that differ from three amino acids have been described: type 1 (CGB7) and type 2 (CGB3, -5, and -8). Here, we demonstrated in situ and ex vivo on placental villi and in vitro in primary cultures of human cytotrophoblasts that type 1 and 2 β-hCG RNAs and proteins were expressed by trophoblasts and that these expressions were higher before blood enters in the intervillous space (8-9 vs. 12-14 WA). hCG was immunodetected in villous mononucleated cytotrophoblasts (VCT) and syncytiotrophoblast (ST) at 8-9 WA but only in ST at 12-14 WA. Furthermore, hCG secretion was fourfold higher in VCT cultures from 8-9 WA compared with 12-14 WA. Interestingly, VCT from 8-9 WA placentas were found to exhibit more fusion features. Taken together, we showed that type 1 and type 2 β-hCG are highly expressed by VCT in the early first trimester, contributing to the high levels of hCG found in maternal serum at this term [ABSTRACT FROM AUTHOR] more...

Published
2012
Full Text
View/download PDF

45. Meat consumption and the risk of incident distal colon and rectal adenoma.

Author

Ferrucci, L M, Sinha, R, Huang, W-Y, Berndt, S I, Katki, H A, Schoen, R E, Hayes, R B, and Cross, A J

Subjects
COLON cancer risk factors, MEAT industry, RECTAL cancer, SIGMOIDOSCOPY, ADENOMA, LOGISTIC regression analysis, DIET, PHYSIOLOGY, PATIENTS, CANCER risk factors
Abstract

Background:Most studies of meat and colorectal adenoma have investigated prevalent events from a single screening, thus limiting our understanding of the role of meat and meat-related exposures in early colorectal carcinogenesis.Methods:Among participants in the screening arm of the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial who underwent baseline and follow-up sigmoidoscopy (n=17 072), we identified 1008 individuals with incident distal colorectal adenoma. We calculated odds ratios (ORs) and 95% confidence intervals (95% CIs) for associations between meat and meat-related components and incident distal colorectal adenoma using multivariate logistic regression.Results:We observed suggestive positive associations for red meat, processed meat, haeme iron, and nitrate/nitrite with distal colorectal adenoma. Grilled meat (OR=1.56, 95% CI=1.04-2.36), well or very well-done meat (OR=1.59, 95% CI=1.05-2.43), 2-amino-1-methyl-6-phenyl-imidazo[4,5-b]pyridine (PhIP) (OR=1.75, 95% CI=1.17-2.64), benzo[a]pyrene (OR=1.53, 95% CI=1.06-2.20), and total mutagenic activity (OR=1.57, 95% CI=1.03-2.40) were positively associated with rectal adenoma. Total iron (diet and supplements) (OR=0.69, 95% CI=0.56-0.86) and iron from supplements (OR=0.65, 95% CI=0.44-0.97) were inversely associated with any distal colorectal adenoma.Conclusion:Our findings indicate that several meat-related components may be most relevant to early neoplasia in the rectum. In contrast, total iron and iron from supplements were inversely associated with any distal colorectal adenoma. [ABSTRACT FROM AUTHOR] more...

Published
2012
Full Text
View/download PDF

46. Risks of myeloid malignancies in patients with autoimmune conditions.

Author

Anderson, L. A., Pfeiffer, R. M., Landgren, O., Gadalla, S., Berndt, S. I., and Engels, E. A.

Subjects
AUTOIMMUNE diseases, LYMPHOPROLIFERATIVE disorders, ACUTE myeloid leukemia, MYELODYSPLASTIC syndromes, BONE marrow diseases, THERAPEUTICS, DISEASE risk factors, COMPARATIVE studies, RESEARCH methodology, MEDICAL cooperation, MYELOPROLIFERATIVE neoplasms, RESEARCH, RESEARCH funding, TIME, EVALUATION research, ODDS ratio, DISEASE complications
Abstract

Autoimmune conditions are associated with an elevated risk of lymphoproliferative malignancies, but few studies have investigated the risk of myeloid malignancies. From the US Surveillance Epidemiology and End Results (SEER)-Medicare database, 13 486 myeloid malignancy patients (aged 67+ years) and 160 086 population-based controls were selected. Logistic regression models adjusted for gender, age, race, calendar year and number of physician claims were used to estimate odds ratios (ORs) for myeloid malignancies in relation to autoimmune conditions. Multiple comparisons were controlled for using the Bonferroni correction (P<0.0005). Autoimmune conditions, overall, were associated with an increased risk of acute myeloid leukaemia (AML) (OR 1.29) and myelodysplastic syndrome (MDS, OR 1.50). Specifically, AML was associated with rheumatoid arthritis (OR 1.28), systemic lupus erythematosus (OR 1.92), polymyalgia rheumatica (OR 1.73), autoimmune haemolytic anaemia (OR 3.74), systemic vasculitis (OR 6.23), ulcerative colitis (OR 1.72) and pernicious anaemia (OR 1.57). Myelodysplastic syndrome was associated with rheumatoid arthritis (OR1.52) and pernicious anaemia (OR 2.38). Overall, autoimmune conditions were not associated with chronic myeloid leukaemia (OR 1.09) or chronic myeloproliferative disorders (OR 1.15). Medications used to treat autoimmune conditions, shared genetic predisposition and/or direct infiltration of bone marrow by autoimmune conditions, could explain these excess risks of myeloid malignancies. [ABSTRACT FROM AUTHOR] more...

Published
2009
Full Text
View/download PDF

47. Dialogue between Blastocyst hCG and Endometrial LH/hCG Receptor: Which Role in Implantation?

Author

D'Hauterive, S. Perrier, Berndt, S., Tsampalas, M., Charlet-Renard, C., Dubois, M., Bourgain, C., Hazout, A., Foidart, J.-M., and Geenen, V.

Subjects
*BLASTOCYST, *GONADOTROPIN, *EMBRYO transfer, *EMBRYOS, *EPITHELIUM, *BIOMARKERS
Abstract

The specific interaction of blastocyst-derived human chorionic gonadotropin (hCG) and endometrial LH/hCG-R constitutes a fundamental component of the molecular dialogue at the materno-fetal interface. From our observations and studies from other groups, hCG was indeed shown to play a significant role in implantation and tolerance of the embryo, decidual differentiation and remodeling, as well as in placentation. The profile pattern of LH/hCG-R expression by endometrial epithelium correlates with the theoretical timing of the implantation window. Studies are currently being conducted in assisted medical procreation and in an animal model of implantation to establish the index of LH/hCG-R expression as a new biomarker of uterine receptivity for embryo implantation. Copyright © 2007 S. Karger AG, Basel [ABSTRACT FROM AUTHOR] more...

Published
2007
Full Text
View/download PDF

49. Parental Stress Experience and Age of Mothers and Fathers After Preterm Birth and Admission of Their Neonate to Neonatal Intensive Care Unit; A Prospective Observational Pilot Study

Author

Elisabeth Pichler-Stachl, Pia Urlesberger, Christian Mattersberger, Nariae Baik-Schneditz, Berndt Schwaberger, Berndt Urlesberger, and Gerhard Pichler

Subjects
parental stress, preterm birth, mother, father, age, Pediatrics, RJ1-570
Abstract

Background: Preterm birth is associated with increased stress of parents that might influence the parental-child interaction, thus potentially having influence on the neurobehavioral development of the preterm infants. However, little is known concerning the age dependency of parental stress after preterm birth.Objective: The aim of the present study was to examine the age dependency of stress in mothers and fathers after preterm birth and neonatal intensive care unit (NICU) admission of their infant.Methods: In a prospective observational pilot study 47 mothers and 47 fathers completed the parental stress scale:NICU (PSS:NICU) questionnaire within 72 h after delivery. This questionnaire measures parental stress after preterm birth with three subscales: “Looks and Behave” of the child, “Parental Role Alteration,” and “Sights and Sounds.” Stress levels of mothers and fathers were compared and correlated to the age of mothers and fathers, respectively.Results: Parental stress experience after preterm birth tended to be higher in mothers compared to fathers. Mothers showed a significant positive correlation of the “Sights and Sounds” scale and age, whereas fathers did not show any significant age dependency of stress.Conclusion: In mothers stress level increases with increasing maternal age after preterm birth and admission of their infant to NICU, whereas fathers did not show any significant age dependency of stress. more...

Published
2019
Full Text
View/download PDF

50. Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

Author

Kar, S. P., Beesley, J., Amin Al Olama, A., Michailidou, K., Tyrer, J., Kote-Jarai, Z., Lawrenson, K., Lindstrom, S., Ramus, S. J., Thompson, D. J., Kibel, Adam, Dansonka-Mieszkowska, A., Michael, A., Dieffenbach, A. K., Gentry-Maharaj, A., Whittemore, A. S., Wolk, A., Monteiro, A., Peixoto, A., Kierzek, A., Cox, A., Rudolph, A., Gonzalez-Neira, A., Wu, A. H., Lindblom, A., Swerdlow, A., Ziogas, A., Ekici, A. B., Burwinkel, B., Karlan, B. Y., Nordestgaard, B. G., Blomqvist, C., Phelan, C., McLean, C., Pearce, C. L., Vachon, C., Cybulski, C., Slavov, C., Stegmaier, C., Maier, C., Ambrosone, C. B., Hogdall, C. K., Teerlink, C. C., Kang, D., Tessier, D. C., Schaid, D. J., Stram, D. O., Cramer, Daniel, Neal, D. E., Eccles, D., Flesch-Janys, D., Edwards, D. R. V., Wokozorczyk, D., Levine, D. A., Yannoukakos, D., Sawyer, E. J., Bandera, E. V., Poole, Elizabeth M., Goode, E. L., Khusnutdinova, E., Hogdall, E., Song, F, Bruinsma, F., Heitz, F., Modugno, F., Hamdy, F. C., Wiklund, F., Giles, G. G., Olsson, H., Wildiers, H., Ulmer, H.-U., Pandha, H., Risch, H. A., Darabi, H., Salvesen, H. B., Nevanlinna, H., Gronberg, H., Brenner, H., Brauch, H., Anton-Culver, H., Song, H., Lim, H.-Y., McNeish, I., Campbell, I., Vergote, I., Gronwald, J., Lubinski, J., Stanford, J. L., Benitez, J., Doherty, J. A., Permuth, J. B., Chang-Claude, J., Donovan, J. L., Dennis, J., Schildkraut, J. M., Schleutker, J., Hopper, J. L., Kupryjanczyk, J., Park, J. Y., Figueroa, J., Clements, J. A., Knight, J. A., Peto, J., Cunningham, J. M., Pow-Sang, J., Batra, J., Czene, K., Lu, K. H., Herkommer, K., Khaw, K.-T., Matsuo, K., Muir, K., Offitt, K., Chen, K., Moysich, K. B., Aittoma ki, K., Odunsi, K., Kiemeney, L. A., Massuger, L. F. A. G., Fitzgerald, L. M., Cook, L. S., Cannon-Albright, L., Hooning, M. J., Pike, M. C., Bolla, M. K., Luedeke, M., Teixeira, M. R., Goodman, M. T., Schmidt, M. K., Riggan, M., Aly, M., Rossing, M. A., Beckmann, M. W., Moisse, M., Sanderson, M., Southey, M. C., Jones, M., Lush, M., Hildebrandt, M. A. T., Hou, M.-F., Schoemaker, M. J., Garcia-Closas, M., Bogdanova, N., Rahman, N., Le, N. D., Orr, N., Wentzensen, N., Pashayan, N., Peterlongo, P., Guenel, P., Brennan, P., Paulo, P., Webb, P. M., Broberg, P., Fasching, P. A., Devilee, P., Wang, Q., Cai, Q., Li, Q., Kaneva, R., Butzow, R., Kopperud, R. K., Schmutzler, R. K., Stephenson, R. A., MacInnis, R. J., Hoover, R. N., Winqvist, R., Ness, R., Milne, R. L., Travis, R. C., Benlloch, S., Olson, S. H., McDonnell, S. K., Tworoger, Shelley, Maia, S., Berndt, S., Lee, S. C., Teo, S.-H., Thibodeau, S. N., Bojesen, S. E., Gapstur, S. M., Kjaer, S. K., Pejovic, T., Tammela, T. L. J., Do rk, T., Bru ning, T., Wahlfors, T., Key, T. J., Edwards, T. L., Menon, U., Hamann, U., Mitev, V., Kosma, V.-M., Setiawan, V. W., Kristensen, V., Arndt, V., Vogel, W., Zheng, W., Sieh, W., Blot, W. J., Kluzniak, W., Shu, X.-O., Gao, Y.-T., Schumacher, F., Freedman, M. L., Berchuck, A., Dunning, A. M., Simard, J., Haiman, C. A., Spurdle, A., Sellers, T. A., Hunter, David, Henderson, B. E., Kraft, Peter, Chanock, S. J., Couch, F. J., Hall, P., Gayther, S. A., Easton, D. F., Chenevix-Trench, G., Eeles, R., Pharoah, P. D. P., Lambrechts, D., and undefined, undefined more...

Subjects
breast cancer, ovarian cancer, prostate cancer, genome-wide association studies, pleiotropy
Abstract

Breast, ovarian, and prostate cancers are hormone-related and may have a shared genetic basis, but this has not been investigated systematically by genome-wide association (GWA) studies. Meta-analyses combining the largest GWA meta-analysis data sets for these cancers totaling 112,349 cases and 116,421 controls of European ancestry, all together and in pairs, identified at P < 10(-8) seven new cross-cancer loci: three associated with susceptibility to all three cancers (rs17041869/2q13/BCL2L11; rs7937840/11q12/INCENP; rs1469713/19p13/GATAD2A), two breast and ovarian cancer risk loci (rs200182588/9q31/SMC2; rs8037137/15q26/RCCD1), and two breast and prostate cancer risk loci (rs5013329/1p34/NSUN4; rs9375701/6q23/L3MBTL3). Index variants in five additional regions previously associated with only one cancer also showed clear association with a second cancer type. Cell-type-specific expression quantitative trait locus and enhancer-gene interaction annotations suggested target genes with potential cross-cancer roles at the new loci. Pathway analysis revealed significant enrichment of death receptor signaling genes near loci with P < 10(-5) in the three-cancer meta-analysis., Other Research Unit, Accepted Manuscript more...

Published
2016
Full Text
View/download PDF