☆ 4.2 Article

Low prevalence of CDKN2A/ARF mutations among early-onset cancers of breast, pancreas and malignant melanoma in Poland

EUROPEAN JOURNAL OF CANCER PREVENTION (2008)

Journal

EUROPEAN JOURNAL OF CANCER PREVENTION

Volume 17, Issue 5, Pages 389-391

Publisher

LIPPINCOTT WILLIAMS & WILKINS

DOI: 10.1097/CEJ.0b013e3282f75eb1

Keywords

breast cancer; CDKN2A/ARF; early onset; malignant melanoma; pancreatic cancer

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Oncology

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Abstract

In this report the contribution of CDKN2A/ARF germline mutations to early-onset cancers of the breast, pancreas and malignant melanoma was examined. We screened 66 women with breast cancer diagnosed at age 30 and below, 72 melanoma patients with the median age at diagnosis <= 40 years and 51 pancreatic cancer patients diagnosed under the age of 50 years. In the total set of 189 patients we found a novel change Pro48Arg (nt 143c > g), a novel intronic change IVS1 + 36 g > c and two common variants A148T and IVS3 + 29 c > g. The results of this study revealed a paucity of mutations in CDKN2A/ARF suggesting that in the Polish population this gene does not contribute significantly to early-onset breast cancer, pancreatic cancer and malignant melanoma.

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Shweta Ramdas, Jonathan Judd, Sarah E. Graham, Stavroula Kanoni, Yuxuan Wang, Ida Surakka, Brandon Wenz, Shoa L. Clarke, Alessandra Chesi, Andrew Wells, Konain Fatima Bhatti, Sailaja Vedantam, Thomas W. Winkler, Adam E. Locke, Eirini Marouli, Greg J. M. Zajac, Kuan-Han H. Wu, Ioanna Ntalla, Qin Hui, Derek Klarin, Austin T. Hilliard, Zeyuan Wang, Chao Xue, Gudmar Thorleifsson, Anna Helgadottir, Daniel F. Gudbjartsson, Hilma Holm, Isleifur Olafsson, Mi Yeong Hwang, Sohee Han, Masato Akiyama, Saori Sakaue, Chikashi Terao, Masahiro Kanai, Wei Zhou, Ben M. Brumpton, Humaira Rasheed, Aki S. Havulinna, Yogasudha Veturi, Jennifer Allen Pacheco, Elisabeth A. Rosenthal, Todd Lingren, QiPing Feng, Iftikhar J. Kullo, Akira Narita, Jun Takayama, Hilary C. Martin, Karen A. Hunt, Bhavi Trivedi, Jeffrey Haessler, Franco Giulianini, Yuki Bradford, Jason E. Miller, Archie Campbell, Kuang Lin, Iona Y. Millwood, Asif Rasheed, George Hindy, Jessica D. Faul, Wei Zhao, David R. Weir, Constance Turman, Hongyan Huang, Mariaelisa Graff, Ananyo Choudhury, Dhriti Sengupta, Anubha Mahajan, Michael R. Brown, Weihua Zhang, Ketian Yu, Ellen M. Schmidt, Anita Pandit, Stefan Gustafsson, Xianyong Yin, Jian'an Luan, Jing-Hua Zhao, Fumihiko Matsuda, Hye-Mi Jang, Kyungheon Yoon, Carolina Medina-Gomez, Achilleas Pitsillides, Jouke Jan Hottenga, Andrew R. Wood, Yingji Ji, Zishan Gao, Simon Haworth, Ruth E. Mitchell, Jin Fang Chai, Mette Aadahl, Anne A. Bjerregaard, Jie Yao, Ani Manichaikul, Wen-Jane Lee, Chao Agnes Hsiung, Helen R. Warren, Julia Ramirez, Jette Bork-Jensen, Line L. Karhus, Anuj Goel, Maria Sabater-Lleal, Raymond Noordam, Pala Mauro, Floris Matteo, Aaron F. McDaid, Pedro Marques-Vidal, Matthias Wielscher, Stella Trompet, Naveed Sattar, Line T. Mollehave, Matthias Munz, Lingyao Zeng, Jianfeng Huang, Bin Yang, Alaitz Poveda, Azra Kurbasic, Sebastian Schonherr, Lukas Forer, Markus Scholz, Tessel E. Galesloot, Jonathan P. Bradfield, Sanni E. Ruotsalainen, E. Warwick Daw, Joseph M. Zmuda, Jonathan S. Mitchell, Christian Fuchsberger, Henry Christensen, Jennifer A. Brody, Phuong Le, Mary F. Feitosa, Mary K. Wojczynski, Daiane Hemerich, Michael Preuss, Massimo Mangino, Paraskevi Christofidou, Niek Verweij, Jan W. Benjamins, Jorgen Engmann, Tsao L. Noah, Anurag Verma, Roderick C. Slieker, Ken Sin Lo, Nuno R. Zilhao, Marcus E. Kleber, Graciela E. Delgado, Shaofeng Huo, Daisuke D. Ikeda, Hiroyuki Iha, Jian Yang, Jun Liu, Ayse Demirkan, Hampton L. Leonard, Jonathan Marten, Carina Emmel, Borge Schmidt, Laura J. Smyth, Marisa Canadas-Garre, Chaolong Wang, Masahiro Nakatochi, Andrew Wong, Nina Hutri-Kahonen, Xueling Sim, Rui Xia, Alicia Huerta-Chagoya, Juan Carlos Fernandez-Lopez, Valeriya Lyssenko, Suraj S. Nongmaithem, Alagu Sankareswaran, Marguerite R. Irvin, Christopher Oldmeadow, Han-Na Kim, Seungho Ryu, Paul R. H. J. Timmers, Liubov Arbeeva, Rajkumar Dorajoo, Leslie A. Lange, Gauri Prasad, Laura Lores-Motta, Marc Pauper, Jirong Long, Xiaohui Li, Elizabeth Theusch, Fumihiko Takeuchi, Cassandra N. Spracklen, Anu Loukola, Sailalitha Bollepalli, Sophie C. Warner, Ya Xing Wang, Wen B. Wei, Teresa Nutile, Daniela Ruggiero, Yun Ju Sung, Shufeng Chen, Fangchao Liu, Jingyun Yang, Katherine A. Kentistou, Bernhard Banas, Anna Morgan, Karina Meidtner, Lawrence F. Bielak, Jennifer A. Smith, Prashantha Hebbar, Aliki-Eleni Farmaki, Edith Hofer, Maoxuan Lin, Maria Pina Concas, Simona Vaccargiu, Peter J. van der Most, Niina Pitkanen, Brian E. Cade, Sander W. van der Laan, Kumaraswamy Naidu Chitrala, Stefan Weiss, Amy R. Bentley, Ayo P. Doumatey, Adebowale A. Adeyemo, Jong Young Lee, Eva R. B. Petersen, Aneta A. Nielsen, Hyeok Sun Choi, Maria Nethander, Sandra Freitag-Wolf, Lorraine Southam, Nigel W. Rayner, Carol A. Wang, Shih-Yi Lin, Jun-Sing Wang, Christian Couture, Leo-Pekka Lyytikainen, Kjell Nikus, Gabriel Cuellar-Partida, Henrik Vestergaard, Bertha Hidalgo, Olga Giannakopoulou, Qiuyin Cai, Morgan O. Obura, Jessica van Setten, Karen Y. He, Hua Tang, Natalie Terzikhan, Jae Hun Shin, Rebecca D. Jackson, Alexander P. Reiner, Lisa Warsinger Martin, Zhengming Chen, Liming Li, Takahisa Kawaguchi, Joachim Thiery, Joshua C. Bis, Lenore J. Launer, Huaixing Li, Mike A. Nalls, Olli T. Raitakari, Sahoko Ichihara, Sarah H. Wild, Christopher P. Nelson, Harry Campbell, Susanne Jager, Toru Nabika, Fahd Al-Mulla, Harri Niinikoski, Peter S. Braund, Ivana Kolcic, Peter Kovacs, Tota Giardoglou, Tomohiro Katsuya, Dominique de Kleijn, Gert J. de Borst, Eung Kweon Kim, Hieab H. H. Adams, M. Arfan Ikram, Xiaofeng Zhu, Folkert W. Asselbergs, Adriaan O. Kraaijeveld, Joline W. J. Beulens, Xiao-Ou Shu, Loukianos S. Rallidis, Oluf Pedersen, Torben Hansen, Paul Mitchell, Alex W. Hewitt, Mika Kahonen, Louis Perusse, Claude Bouchard, Anke Tonjes, Yii-Der Ida Chen, Craig E. Pennell, Trevor A. Mori, Wolfgang Lieb, Andre Franke, Claes Ohlsson, Dan Mellstrom, Yoon Shin Cho, Hyejin Lee, Jian-Min Yuan, Woon-Puay Koh, Sang Youl Rhee, Jeong-Taek Woo, Iris M. Heid, Klaus J. Stark, Martina E. Zimmermann, Henry Volzke, Georg Homuth, Michele K. Evans, Alan B. Zonderman, Ozren Polasek, Gerard Pasterkamp, Imo E. Hoefer, Susan Redline, Katja Pahkala, Albertine J. Oldehinkel, Harold Snieder, Ginevra Biino, Reinhold Schmidt, Helena Schmidt, Stefania Bandinelli, George Dedoussis, Thangavel Alphonse Thanaraj, Patricia A. Peyser, Norihiro Kato, Matthias B. Schulze, Giorgia Girotto, Carsten A. Boger, Bettina Jung, Peter K. Joshi, David A. Bennett, Philip L. De Jager, Xiangfeng Lu, Vasiliki Mamakou, Morris Brown, Mark J. Caulfield, Patricia B. Munroe, Xiuqing Guo, Marina Ciullo, Jost B. Jonas, Nilesh J. Samani, Jaakko Kaprio, Paivi Pajukanta, Teresa Tusie-Luna, Carlos A. Aguilar-Salinas, Linda S. Adair, Sonny Augustin Bechayda, H. Janaka de Silva, Ananda R. Wickremasinghe, Ronald M. Krauss, Jer-Yuarn Wu, Wei Zheng, Anneke den Hollander, Dwaipayan Bharadwaj, Adolfo Correa, James G. Wilson, Lars Lind, Chew-Kiat Heng, Amanda E. Nelson, Yvonne M. Golightly, James F. Wilson, Brenda Penninx, Hyung-Lae Kim, John Attia, Rodney J. Scott, D. C. Rao, Donna K. Arnett, Mark Walker, Laura J. Scott, Heikki A. Koistinen, Giriraj R. Chandak, Josep M. Mercader, Clicerio Gonzalez Villalpando, Lorena Orozco, Myriam Fornage, E. Shyong Tai, Rob M. van Dam, Terho Lehtimaki, Nish Chaturvedi, Mitsuhiro Yokota, Jianjun Liu, Dermot F. Reilly, Amy Jayne McKnight, Frank Kee, Karl-Heinz Jockel, Mark McCarthy, Colin N. A. Palmer, Veronique Vitart, Caroline Hayward, Eleanor Simonsick, Cornelia M. van Duijn, Zi-Bing Jin, Fan Lu, Haretsugu Hishigaki, Xu Lin, Winfried Marz, Vilmundur Gudnason, Jean-Claude Tardif, Guillaume Lettre, Leen M. T. Hart, Petra J. M. Elders, Daniel J. Rader, Scott M. Damrauer, Meena Kumari, Mika Kivimaki, Pim van der Harst, Tim D. Spector, Ruth J. F. Loos, Michael A. Province, Esteban J. Parra, Miguel Cruz, Bruce M. Psaty, Ivan Brandslund, Peter P. Pramstaller, Charles N. Rotimi, Kaare Christensen, Samuli Ripatti, Elisabeth Widen, Hakon Hakonarson, Struan F. A. Grant, Lambertus Kiemeney, Jacqueline de Graaf, Markus Loeffler, Florian Kronenberg, Dongfeng Gu, Jeanette Erdmann, Heribert Schunkert, Paul W. Franks, Allan Linneberg, J. Wouter Jukema, Amit Khera, Minna Mannikko, Marjo-Riitta Jarvelin, Zoltan Kutalik, Cucca Francesco, Dennis O. Mook-Kanamori, Ko Willems van Dijk, Hugh Watkins, David P. Strachan, Niels Grarup, Peter Sever, Neil Poulter, Wayne Huey-Herng Sheu, Jerome Rotter, Thomas M. Dantoft, Fredrik Karpe, Matt J. Neville, Nicholas J. Timpson, Ching-Yu Cheng, Tien-Yin Wong, Chiea Chuen Khor, Hengtong Li, Charumathi Sabanayagam, Annette Peters, Christian Gieger, Andrew T. Hattersley, Nancy L. Pedersen, Patrik K. E. Magnusson, Dorret Boomsma, Eco J. C. de Geus, L. Adrienne Cupples, Joyce B. J. van Meurs, Arfan Ikram, Mohsen Ghanbari, Penny Gordon-Larsen, Wei Huang, Young Jin Kim, Yasuharu Tabara, Nicholas J. Wareham, Claudia Langenberg, Eleftheria Zeggini, Jaakko Tuomilehto, Johanna Kuusisto, Markku Laakso, Erik Ingelsson, Goncalo Abecasis, John C. Chambers, Jaspal S. Kooner, Paul S. de Vries, Alanna C. Morrison, Scott Hazelhurst, Michele Ramsay, Kari E. North, Martha Daviglus, Peter Kraft, Nicholas G. Martin, John B. Whitfield, Shahid Abbas, Danish Saleheen, Robin G. Walters, Michael Holmes, Corri Black, Blair H. Smith, Aris Baras, Anne E. Justice, Julie E. Buring, Paul M. Ridker, Daniel Chasman, Charles Kooperberg, Gen Tamiya, Masayuki Yamamoto, David A. van Heel, Richard C. Trembath, Wei-Qi Wei, Gail P. Jarvik, Bahram Namjou, M. Geoffrey Hayes, Marylyn D. Ritchie, Pekka Jousilahti, Veikko Salomaa, Kristian Hveem, Bjorn Olav Asvold, Michiaki Kubo, Yoichiro Kamatani, Yukinori Okada, Yoshinori Murakami, Bong-Jo Kim, Unnur Thorsteinsdottir, Kari Stefansson, Jifeng Zhang, Y. Eugene Chen, Yuk-Lam Ho, Julie A. Lynch, Philip S. Tsao, Kyong-Mi Chang, Kelly Cho, Christopher J. O'Donnell, John M. Gaziano, Peter Wilson, Karen L. Mohlke, Timothy M. Frayling, Joel N. Hirschhorn, Sekar Kathiresan, Michael Boehnke, Struan Grant, Pradeep Natarajan, Yan Sun, Andrew P. Morris, Panos Deloukas, Gina Peloso, Themistocles L. Assimes, Cristen J. Willer, Xiang Zhu, Christopher D. Brown

Summary: This study integrates large-scale GWAS data and functional genomic data to uncover genes and mechanisms involved in regulating blood lipids. Through enrichment analysis and identification of transcription factor binding sites, important genes and transcription factors related to lipid levels are discovered. Additionally, a framework is proposed to prioritize causal variants and genes at GWAS loci.

AMERICAN JOURNAL OF HUMAN GENETICS (2022)

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Article Geriatrics & Gerontology

High polygenic risk score for exceptional longevity is associated with a healthy metabolic profile

Mary Revelas, Anbupalam Thalamuthu, Anna Zettergren, Christopher Oldmeadow, Jenna Najar, Nazib M. Seidu, Nicola J. Armstrong, Carlos Riveros, John B. Kwok, Peter R. Schofield, Julian N. Trollor, Margda Waern, Margaret J. Wright, Henrik Zetterberg, David Ames, Kaj Belnnow, Henry Brodaty, Rodney J. Scott, Ingmar Skoog, John R. Attia, Perminder S. Sachdev, Karen A. Mather

Summary: This study found that individuals with a high polygenic risk for exceptional longevity have a lower prevalence of metabolic syndrome, suggesting that high-risk individuals have a healthy metabolic profile that promotes longevity.

GEROSCIENCE (2023)

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Article Oncology

Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants

Belle W. X. Lim, Na Li, Sakshi Mahale, Simone M. McInerny, Magnus Zethoven, Simone M. Rowley, Joanne Huynh, Theresa Wang, Jue Er Amanda Lee, Mia Friedman, Lisa Devereux, Rodney J. Scott, Erica K. Sloan, Paul A. James, Ian G. Campbell

Summary: This study found that BARD1 and RAD51D behave as classic BRCA-like predisposition genes with biallelic loss in breast cancer. In contrast to other breast cancer-related genes, CHEK2 gene lacks biallelic loss, but this does not definitively exclude its involvement in breast cancer predisposition.

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2023)

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Article Multidisciplinary Sciences

A saturated map of common genetic variants associated with human height

Loic Yengo, Sailaja Vedantam, Eirini Marouli, Julia Sidorenko, Eric Bartell, Saori Sakaue, Marielisa Graff, Anders U. Eliasen, Yunxuan Jiang, Sridharan Raghavan, Jenkai Miao, Joshua D. Arias, Sarah E. Graham, Ronen E. Mukamel, Cassandra N. Spracklen, Xianyong Yin, Shyh-Huei Chen, Teresa Ferreira, Heather H. Highland, Yingjie Ji, Tugce Karaderi, Kuang Lin, Kreete Lull, Deborah E. Malden, Carolina Medina-Gomez, Moara Machado, Amy Moore, Sina Rueger, Xueling Sim, Scott Vrieze, Tarunveer S. Ahluwalia, Masato Akiyama, Matthew A. Allison, Marcus Alvarez, Mette K. Andersen, Alireza Ani, Vivek Appadurai, Liubov Arbeeva, Seema Bhaskar, Lawrence F. Bielak, Sailalitha Bollepalli, Lori L. Bonnycastle, Jette Bork-Jensen, Jonathan P. Bradfield, Yuki Bradford, Peter S. Braund, Jennifer A. Brody, Kristoffer S. Burgdorf, Brian E. Cade, Hui Cai, Qiuyin Cai, Archie Campbell, Marisa Canadas-Garre, Eulalia Catamo, Jin-Fang Chai, Xiaoran Chai, Li-Ching Chang, Yi-Cheng Chang, Chien-Hsiun Chen, Alessandra Chesi, Seung Hoan Choi, Ren-Hua Chung, Massimiliano Cocca, Maria Pina Concas, Christian Couture, Gabriel Cuellar-Partida, Rebecca Danning, E. Warwick Daw, Frauke Degenhard, Graciela E. Delgado, Alessandro Delitala, Ayse Demirkan, Xuan Deng, Poornima Devineni, Alexander Dietl, Maria Dimitriou, Latchezar Dimitrov, Rajkumar Dorajoo, Arif B. Ekici, Jorgen E. Engmann, Zammy Fairhurst-Hunter, Aliki-Eleni Farmaki, Jessica D. Faul, Juan-Carlos Fernandez-Lopez, Lukas Forer, Margherita Francescatto, Sandra Freitag-Wolf, Christian Fuchsberger, Tessel E. Galesloot, Yan Gao, Zishan Gao, Frank Geller, Olga Giannakopoulou, Franco Giulianini, Anette P. Gjesing, Anuj Goel, Scott D. Gordon, Mathias Gorski, Jakob Grove, Xiuqing Guo, Stefan Gustafsson, Jeffrey Haessler, Thomas F. Hansen, Aki S. Havulinna, Simon J. Haworth, Jing He, Nancy Heard-Costa, Prashantha Hebbar, George Hindy, Yuk-Lam A. Ho, Edith Hofer, Elizabeth Holliday, Katrin Horn, Whitney E. Hornsby, Jouke-Jan Hottenga, Hongyan Huang, Jie Huang, Alicia Huerta-Chagoya, Jennifer E. Huffman, Yi-Jen Hung, Shaofeng Huo, Mi Yeong Hwang, Hiroyuki Iha, Daisuke D. Ikeda, Masato Isono, Anne U. Jackson, Susanne Jager, Iris E. Jansen, Ingegerd Johansson, Jost B. Jonas, Anna Jonsson, Torben Jorgensen, Ioanna-Panagiota Kalafati, Masahiro Kanai, Stavroula Kanoni, Line L. Karhus, Anuradhani Kasturiratne, Tomohiro Katsuya, Takahisa Kawaguchi, Rachel L. Kember, Katherine A. Kentistou, Han-Na Kim, Young Jin Kim, Marcus E. Kleber, Maria J. Knol, Azra Kurbasic, Marie Lauzon, Phuong Le, Rodney Lea, Jong-Young Lee, Hampton L. Leonard, Shengchao A. Li, Xiaohui Li, Xiaoyin Li, Jingjing Liang, Honghuang Lin, Shih-Yi Lin, Jun Liu, Xueping Liu, Ken Sin Lo, Jirong Long, Laura Lores-Motta, Jian'an Luan, Valeriya Lyssenko, Leo-Pekka Lyytikainen, Anubha Mahajan, Vasiliki Mamakou, Massimo Mangino, Ani Manichaikul, Jonathan Marten, Manuel Mattheisen, Laven Mavarani, Aaron F. McDaid, Karina Meidtner, Tori L. Melendez, Josep M. Mercader, Yuri Milaneschi, Jason E. Miller, Iona Y. Millwood, Pashupati P. Mishra, Ruth E. Mitchell, Line T. Mollehave, Anna Morgan, Soeren Mucha, Matthias Munz, Masahiro Nakatochi, Christopher P. Nelson, Maria Nethander, Chu Won Nho, Aneta A. Nielsen, Ilja M. Nolte, Suraj S. Nongmaithem, Raymond Noordam, Ioanna Ntalla, Teresa Nutile, Anita Pandit, Paraskevi Christofidou, Katri Parna, Marc Pauper, Eva R. B. Petersen, Liselotte Petersen, Niina Pitkanen, Ozren Polasek, Alaitz Poveda, Michael H. Preuss, Saiju Pyarajan, Laura M. Raffield, Hiromi Rakugi, Julia Ramirez, Asif Rasheed, Dennis Raven, Nigel W. Rayner, Carlos Riveros, Rebecca Rohde, Daniela Ruggiero, Sanni E. Ruotsalainen, Kathleen A. Ryan, Maria Sabater-Lleal, Richa Saxena, Markus Scholz, Anoop Sendamarai, Botong Shen, Jingchunzi Shi, Jae Hun Shin, Carlo Sidore, Colleen M. Sitlani, Roderic K. C. Slieker, Roelof A. J. Smit, Albert Smith, Jennifer A. Smith, Laura J. Smyth, Lorrain E. Southam, Valgerdur Steinthorsdottir, Liang Sun, Fumihiko Takeuchi, Divyasripriyanka Tallapragada, Kent D. Taylor, Bamidele O. Tayo, Catherine Tcheandjieu, Natalie Terzikhan, Paola Tesolin, Alexander Teumer, Elizabeth Theusch, Deborah J. Thompson, Gudmar Thorleifsson, Paul R. H. J. Timmers, Stella Trompet, Constance Turman, Simona Vaccargiu, Sander W. van der Laan, Peter J. van der Most, Jan B. van Klinken, Jessica van Setten, Shefali S. Verma, Niek Verweij, Yogasudha Veturi, Carol A. Wang, Chaolong Wang, Lihua Wang, Zhe Wang, Helen R. Warren, Wen Bin Wei, Ananda R. Wickremasinghe, Matthias Wielscher, Kerri L. Wiggins, Bendik S. Winsvold, Andrew Wong, Yang Wu, Matthias Wuttke, Rui Xia, Tian Xie, Ken Yamamoto, Jingyun Yang, Jie Yao, Hannah Young, Noha A. Yousri, Lei Yu, Lingyao Zeng, Weihua Zhang, Xinyuan Zhang, Jing-Hua Zhao, Wei Zhao, Wei Zhou, Martina E. Zimmermann, Magdalena Zoledziewska, Linda S. Adair, Hieab H. H. Adams, Carlos A. Aguilar-Salinas, Fahd Al-Mulla, Donna K. Arnett, Folkert W. Asselbergs, Bjorn Olav Asvold, John Attia, Bernhard Banas, Stefania Bandinelli, David A. Bennett, Tobias Bergler, Dwaipayan Bharadwaj, Ginevra Biino, Hans Bisgaard, Eric Boerwinkle, Carsten A. Boger, Klaus Bonnelykke, Dorret Boomsma, Anders D. Borglum, Judith B. Borja, Claude Bouchard, Donald W. Bowden, Ivan Brandslund, Ben Brumpton, Julie E. Buring, Mark J. Caulfield, John C. Chambers, Giriraj R. Chandak, Stephen J. Chanock, Nish Chaturvedi, Yii-Der Ida Chen, Zhengming Chen, Ching-Yu Cheng, Ingrid E. Christophersen, Marina Ciullo, John W. Cole, Francis S. Collins, Richard S. Cooper, Miguel Cruz, Francesco Cucca, L. Adrienne Cupples, Michael J. Cutler, Scott M. Damrauer, Thomas M. Dantoft, Gert J. de Borst, Lisette C. P. G. M. de Groot, Philip L. De Jager, Dominique P. de Kleijn, H. Janaka de Silva, George Dedoussis, Anneke den Hollander, Shufa Du, Douglas F. Easton, Petra J. M. Elders, A. Heather Eliassen, Patrick T. Ellinor, Solve Elmstahl, Jeanette Erdmann, Michele K. Evans, Diane Fatkin, Bjarke Feenstra, Mary F. Feitosa, Luigi Ferrucci, Ian Ford, Myriam Fornage, Andre Franke, Paul W. Franks, Barry Freedman, Paolo Gasparini, Christian Gieger, Giorgia Girotto, Michael E. Goddard, Yvonne M. Golightly, Clicerio Gonzalez-Villalpando, Penny Gordon-Larsen, Harald Grallert, Struan F. A. Grant, Niels Grarup, Lyn Griffiths, Vilmundur Gudnason, Christopher Haiman, Hakon Hakonarson, Torben Hansen, Catharina A. Hartman, Andrew T. Hattersley, Caroline Hayward, Susan R. Heckbert, Chew-Kiat Heng, Christian Hengstenberg, Alex W. Hewitt, Haretsugu Hishigaki, Carel B. Hoyng, Paul L. Huang, Wei Huang, Steven C. Hunt, Kristian Hveem, Elina Hypponen, William G. Iacono, Sahoko Ichihara, M. Arfan Ikram, Carmen R. Isasi, Rebecca D. Jackson, Marjo-Riitta Jarvelin, Zi-Bing Jin, Karl-Heinz Jockel, Peter K. Joshi, Pekka Jousilahti, J. Wouter Jukema, Mika Kahonen, Yoichiro Kamatani, Kui Dong Kang, Jaakko Kaprio, Sharon L. R. Kardia, Fredrik Karpe, Norihiro Kato, Frank Kee, Thorsten Kessler, Amit Khera, Chiea Chuen Khor, Lambertus A. L. M. Kiemeney, Bong-Jo Kim, Eung Kweon Kim, Hyung-Lae Kim, Paulus Kirchhof, Mika Kivimaki, Woon-Puay Koh, Heikki A. Koistinen, Genovefa D. Kolovou, Jaspal S. Kooner, Charles Kooperberg, Anna Kottgen, Peter Kovacs, Adriaan Kraaijeveld, Peter Kraft, Ronald M. Krauss, Meena Kumari, Zoltan Kutalik, Markku Laakso, Leslie A. Lange, Claudia Langenberg, Lenore J. Launer, Loic Le Marchand, Hyejin Lee, Nanette R. Lee, Terho Lehtimaki, Huaixing Li, Liming Li, Wolfgang Lieb, Xu Lin, Lars Lind, Allan Linneberg, Ching-Ti Liu, Jianjun Liu, Markus Loeffler, Barry London, Steven A. Lubitz, Stephen J. Lye, David A. Mackey, Reedik Magi, Patrik K. E. Magnusson, Gregory M. Marcus, Pedro Marques Vidal, Nicholas G. Martin, Winfried Marz, Fumihiko Matsuda, Robert W. McGarrah, Matt McGue, Amy Jayne McKnight, Sarah E. Medland, Dan Mellstrom, Andres Metspalu, Braxton D. Mitchell, Paul Mitchell, Dennis O. Mook-Kanamori, Andrew D. Morris, Lorelei A. Mucci, Patricia B. Munroe, Mike A. Nalls, Saman Nazarian, Amanda E. Nelson, Matt J. Neville, Christopher Newton-Cheh, Christopher S. Nielsen, Markus M. Nothen, Claes Ohlsson, Albertine J. Oldehinkel, Lorena Orozco, Katja Pahkala, Paivi Pajukanta, Colin N. A. Palmer, Esteban J. Parra, Cristian Pattaro, Oluf Pedersen, Craig E. Pennell, Brenda W. J. H. Penninx, Louis Perusse, Annette Peters, Patricia A. Peyser, David J. Porteous, Danielle Posthuma, Chris Power, Peter P. Pramstaller, Michael A. Province, Qibin Qi, Jia Qu, Daniel J. Rader, Olli T. Raitakari, Sarju Ralhan, Loukianos S. Rallidis, Dabeeru C. Rao, Susan Redline, Dermot F. Reilly, Alexander P. Reiner, Sang Youl Rhee, Paul M. Ridker, Michiel Rienstra, Samuli Ripatti, Marylyn D. Ritchie, Dan M. Roden, Frits R. Rosendaal, Jerome Rotter, Igor Rudan, Femke Rutters, Charumathi Sabanayagam, Danish Saleheen, Veikko Salomaa, Nilesh J. Samani, Dharambir K. Sanghera, Naveed Sattar, Borge Schmidt, Helena Schmidt, Reinhold Schmidt, Matthias B. Schulze, Heribert Schunkert, Laura J. Scott, Rodney J. Scott, Peter Sever, Eric J. Shiroma, M. Benjamin Shoemaker, Xiao-Ou Shu, Eleanor M. Simonsick, Mario Sims, Jai Rup Singh, Andrew B. Singleton, Moritz F. Sinner, J. Gustav Smith, Harold Snieder, Tim D. Spector, Meir J. Stampfer, Klaus J. Stark, David P. Strachan, Leen M. t' Hart, Yasuharu Tabara, Hua Tang, Jean-Claude Tardif, Thangavel A. Thanaraj, Nicholas J. Timpson, Anke Tonjes, Angelo Tremblay, Tiinamaija Tuomi, Jaakko Tuomilehto, Maria-Teresa Tusie-Luna, Andre G. Uitterlinden, Rob M. van Dam, Pim van der Harst, Nathalie Van der Velde, Cornelia M. van Duijn, Natasja M. van Schoor, Veronique Vitart, Uwe Volker, Peter Vollenweider, Henry Volzke, Niels H. Wacher-Rodarte, Mark Walker, Ya Xing Wang, Nicholas J. Wareham, Richard M. Watanabe, Hugh Watkins, David R. Weir, Thomas M. Werge, Elisabeth Widen, Lynne R. Wilkens, Gonneke Willemsen, Walter C. Willett, James F. Wilson, Tien-Yin Wong, Jeong-Taek Woo, Alan F. Wright, Jer-Yuarn Wu, Huichun Xu, Chittaranjan S. Yajnik, Mitsuhiro Yokota, Jian-Min Yuan, Eleftheria Zeggini, Babette S. Zemel, Wei Zheng, Xiaofeng Zhu, Joseph M. Zmuda, Alan B. Zonderman, John-Anker Zwart, Daniel Chasman, Yoon Shin Cho, Iris M. Heid, Mark McCarthy, Maggie C. Y. Ng, Christopher J. O'Donnell, Fernando Rivadeneira, Unnur Thorsteinsdottir, Yan Sun, E. Shyong Tai, Michael Boehnke, Panos Deloukas, Anne E. Justice, Cecilia M. Lindgren, Ruth J. F. Loos, Karen L. Mohlke, Kari E. North, Kari Stefansson, Robin G. Walters, Thomas W. Winkler, Kristin L. Young, Po-Ru Loh, Jian Yang, Tonu Esko, Themistocles L. Assimes, Adam Auton, Goncalo R. Abecasis, Cristen J. Willer, Adam E. Locke, Sonja Berndt, Guillaume Lettre, Timothy M. Frayling, Yukinori Okada, Andrew R. Wood, Peter M. Visscher, Joel N. Hirschhorn

Summary: A large genome-wide association study of more than 5 million individuals reveals that 12,111 independent SNPs account for nearly all the heritability of height attributable to common genetic variants. These SNPs are clustered within non-overlapping genomic segments and the phenotypic variance explained varies across populations.

NATURE (2022)

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Article Biochemistry & Molecular Biology

Brain ageing in schizophrenia: evidence from 26 international cohorts via the ENIGMA Schizophrenia consortium

Constantinos Constantinides, Laura K. M. Han, Clara Alloza, Linda Antonella Antonucci, Celso Arango, Rosa Ayesa-Arriola, Nerisa Banaj, Alessandro Bertolino, Stefan Borgwardt, Jason Bruggemann, Juan Bustillo, Oleg Bykhovski, Vince Calhoun, Vaughan Carr, Stanley Catts, Young-Chul Chung, Benedicto Crespo-Facorro, Covadonga M. Diaz-Caneja, Gary Donohoe, Stefan Du Plessis, Jesse Edmond, Stefan Ehrlich, Robin Emsley, Lisa T. Eyler, Paola Fuentes-Claramonte, Foivos Georgiadis, Melissa Green, Amalia Guerrero-Pedraza, Minji Ha, Tim Hahn, Frans A. Henskens, Laurena Holleran, Stephanie Homan, Philipp Homan, Neda Jahanshad, Joost Janssen, Ellen Ji, Stefan Kaiser, Vasily Kaleda, Minah Kim, Woo-Sung Kim, Matthias Kirschner, Peter Kochunov, Yoo Bin Kwak, Jun Soo Kwon, Irina Lebedeva, Jingyu Liu, Patricia Mitchie, Stijn Michielse, David Mothersill, Bryan Mowry, Victor Ortiz-Garcia de la Foz, Christos Pantelis, Giulio Pergola, Fabrizio Piras, Edith Pomarol-Clotet, Adrian Preda, Yann Quide, Paul E. Rasser, Kelly Rootes-Murdy, Raymond Salvador, Marina Sangiuliano, Salvador Sarro, Ulrich Schall, Andre Schmidt, Rodney J. Scott, Pierluigi Selvaggi, Kang Sim, Antonin Skoch, Gianfranco Spalletta, Filip Spaniel, Sophia Thomopoulos, David Tomecek, Alexander S. Tomyshev, Diana Tordesillas-Gutierrez, Therese van Amelsvoort, Javier Vazquez-Bourgon, Daniela Vecchio, Aristotle Voineskos, Cynthia S. Weickert, Thomas Weickert, Paul M. Thompson, Lianne Schmaal, Theo G. M. van Erp, Jessica Turner, James H. Cole, Danai Dima, Esther Walton

Summary: Schizophrenia patients show evidence of advanced brain ageing, which is not associated with clinical characteristics.

MOLECULAR PSYCHIATRY (2023)

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Article Clinical Neurology

Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity

Mark K. Bakker, Jos P. Kanning, Gad Abraham, Amy E. Martinsen, Bendik S. Winsvold, John-Anker Zwart, Romain Bourcier, Tomonobu Sawada, Masaru Koido, Yoichiro Kamatani, Sandrine Morel, Philippe Amouyel, Stephanie Debette, Philippe Bijlenga, Takiy Berrandou, Santhi K. Ganesh, Nabila Bouatia-Naji, Gregory Jones, Matthew Bown, Gabriel J. E. HUNT All In Stroke, Jan H. CADISP Grp, Ynte M. Int Consortium Blood Pressure, Int Headache Genetics Consortium, ISGC, Intracranial Aneurysm Working Grp, Gabriel J. E. Rinkel, Jan Veldink, Ynte Ruigrok

Summary: Recently, common genetic risk factors for intracranial aneurysm (IA) and aneurysmal subarachnoid hemorrhage (ASAH) were found to have potential for genetic risk prediction. However, a genetic risk score incorporating these factors only showed limited predictive value for IA presence and ASAH incidence, suggesting that it may not be suitable for daily clinical use.

STROKE (2023)

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Article Multidisciplinary Sciences

Association studies between chromosomal regions 1q21.3, 5q21.3, 14q21.2 and 17q21.31 and numbers of children in Poland

Jeremy S. C. Clark, Thierry van de Wetering, Blazej Marciniak, Elzbieta Zadzinska, Andrzej Ciechanowicz, Mariusz Kaczmarczyk, Agnieszka Boron, Kamila Rydzewska, Konrad Posiadlo, Dominik Strapagiel

Summary: This study confirmed the association between the H1/H2 inversion and the number of children using a large sample of Polish subjects, although a different statistical model was employed for analysis.

SCIENTIFIC REPORTS (2022)

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Article Nutrition & Dietetics

Serum Essential Elements and Survival after Cancer Diagnosis

Jan Lubinski, Marcin R. Lener, Wojciech Marciniak, Sandra Pietrzak, Roza Derkacz, Cezary Cybulski, Jacek Gronwald, Tadeusz Debniak, Anna Jakubowska, Tomasz Huzarski, Milena Matuszczak, Katherine Pullella, Ping Sun, Steven A. Narod

Summary: In this prospective study, the associations between three serum elements (Se, Zn, and Cu) and the prognosis of four different types of cancer were measured. Higher levels of selenium and zinc were associated with reduced mortality, while higher levels of copper were associated with increased mortality. These findings suggest that these serum elements may have implications for the prognosis of cancer.

NUTRIENTS (2023)

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Article Biochemistry & Molecular Biology

DNA Methylation Signatures of Multiple Sclerosis Occur Independently of Known Genetic Risk and Are Primarily Attributed to B Cells and Monocytes

Alexandre Xavier, Vicki E. Maltby, Ewoud Ewing, Maria Pia Campagna, Sean M. Burnard, Jesper N. Tegner, Mark Slee, Helmut Butzkueven, Ingrid Kockum, Lara Kular, Vilija G. Jokubaitis, Trevor Kilpatrick, Lars Alfredsson, Maja Jagodic, Anne-Louise Ponsonby, Bruce V. Taylor, Rodney J. Scott, Rodney A. Lea, Jeannette Lechner-Scott

Summary: This study reveals that DNA methylation differences in multiple sclerosis (MS) occur independently of known genetic risk loci. It shows that these differences more effectively differentiate the disease compared to known genetic risk loci. The study also indicates that the methylation differences in MS predominantly occur in B cells and monocytes, involving cell-specific biological pathways.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)

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