| Literature DB >> 25168388 |
Wei-Yu Lin1, Nicola J Camp2, Maya Ghoussaini3, Jonathan Beesley4, Kyriaki Michailidou3, John L Hopper5, Carmel Apicella5, Melissa C Southey6, Jennifer Stone7, Marjanka K Schmidt8, Annegien Broeks8, Laura J Van't Veer8, Emiel J Th Rutgers8, Kenneth Muir9, Artitaya Lophatananon10, Sarah Stewart-Brown10, Pornthep Siriwanarangsan11, Peter A Fasching12, Lothar Haeberle13, Arif B Ekici14, Matthias W Beckmann13, Julian Peto15, Isabel Dos-Santos-Silva15, Olivia Fletcher16, Nichola Johnson16, Manjeet K Bolla3, Qin Wang3, Joe Dennis3, Elinor J Sawyer17, Timothy Cheng18, Ian Tomlinson18, Michael J Kerin19, Nicola Miller19, Frederik Marmé20, Harald M Surowy21, Barbara Burwinkel21, Pascal Guénel22, Thérèse Truong22, Florence Menegaux22, Claire Mulot23, Stig E Bojesen24, Børge G Nordestgaard24, Sune F Nielsen25, Henrik Flyger26, Javier Benitez27, M Pilar Zamora28, Jose Ignacio Arias Perez29, Primitiva Menéndez30, Anna González-Neira31, Guillermo Pita31, M Rosario Alonso31, Nuria Alvarez31, Daniel Herrero31, Hoda Anton-Culver32, Hermann Brenner33, Aida Karina Dieffenbach33, Volker Arndt34, Christa Stegmaier35, Alfons Meindl36, Peter Lichtner37, Rita K Schmutzler38, Bertram Müller-Myhsok39, Hiltrud Brauch40, Thomas Brüning41, Yon-Dschun Ko42, Daniel C Tessier43, Daniel Vincent43, Francois Bacot43, Heli Nevanlinna44, Kristiina Aittomäki45, Carl Blomqvist46, Sofia Khan44, Keitaro Matsuo47, Hidemi Ito48, Hiroji Iwata49, Akiyo Horio49, Natalia V Bogdanova50, Natalia N Antonenkova51, Thilo Dörk52, Annika Lindblom53, Sara Margolin54, Arto Mannermaa55, Vesa Kataja56, Veli-Matti Kosma55, Jaana M Hartikainen55, Anna H Wu57, Chiu-Chen Tseng57, David Van Den Berg57, Daniel O Stram57, Patrick Neven58, Els Wauters59, Hans Wildiers60, Diether Lambrechts61, Jenny Chang-Claude62, Anja Rudolph62, Petra Seibold62, Dieter Flesch-Janys63, Paolo Radice64, Paolo Peterlongo65, Siranoush Manoukian66, Bernardo Bonanni67, Fergus J Couch68, Xianshu Wang68, Celine Vachon69, Kristen Purrington70, Graham G Giles71, Roger L Milne71, Catriona Mclean72, Christopher A Haiman57, Brian E Henderson57, Fredrick Schumacher57, Loic Le Marchand73, Jacques Simard74, Mark S Goldberg75, France Labrèche76, Martine Dumont74, Soo Hwang Teo77, Cheng Har Yip78, Norhashimah Hassan77, Eranga Nishanthie Vithana79, Vessela Kristensen80, Wei Zheng81, Sandra Deming-Halverson81, Martha J Shrubsole81, Jirong Long81, Robert Winqvist82, Katri Pylkäs82, Arja Jukkola-Vuorinen83, Saila Kauppila84, Irene L Andrulis85, Julia A Knight86, Gord Glendon87, Sandrine Tchatchou88, Peter Devilee89, Robert A E M Tollenaar90, Caroline Seynaeve91, Christi J Van Asperen92, Montserrat García-Closas93, Jonine Figueroa94, Jolanta Lissowska95, Louise Brinton94, Kamila Czene96, Hatef Darabi96, Mikael Eriksson96, Judith S Brand96, Maartje J Hooning91, Antoinette Hollestelle91, Ans M W Van Den Ouweland97, Agnes Jager91, Jingmei Li98, Jianjun Liu99, Keith Humphreys96, Xiao-Ou Shu81, Wei Lu98, Yu-Tang Gao100, Hui Cai81, Simon S Cross101, Malcolm W R Reed102, William Blot103, Lisa B Signorello103, Qiuyin Cai81, Paul D P Pharoah104, Barbara Perkins105, Mitul Shah105, Fiona M Blows105, Daehee Kang106, Keun-Young Yoo107, Dong-Young Noh108, Mikael Hartman109, Hui Miao110, Kee Seng Chia110, Thomas Choudary Putti111, Ute Hamann112, Craig Luccarini105, Caroline Baynes105, Shahana Ahmed105, Mel Maranian105, Catherine S Healey105, Anna Jakubowska113, Jan Lubinski113, Katarzyna Jaworska-Bieniek113, Katarzyna Durda113, Suleeporn Sangrajrang114, Valerie Gaborieau115, Paul Brennan115, James Mckay115, Susan Slager69, Amanda E Toland116, Drakoulis Yannoukakos117, Chen-Yang Shen118, Chia-Ni Hsiung119, Pei-Ei Wu120, Shian-Ling Ding121, Alan Ashworth122, Michael Jones123, Nick Orr124, Anthony J Swerdlow125, Helen Tsimiklis126, Enes Makalic127, Daniel F Schmidt127, Quang M Bui127, Stephen J Chanock94, David J Hunter128, Rebecca Hein129, Norbert Dahmen130, Lars Beckmann131, Kirsimari Aaltonen44, Taru A Muranen44, Tuomas Heikkinen44, Astrid Irwanto99, Nazneen Rahman123, Clare A Turnbull123, Quinten Waisfisz132, Hanne E J Meijers-Heijboer132, Muriel A Adank132, Rob B Van Der Luijt133, Per Hall96, Georgia Chenevix-Trench4, Alison Dunning105, Douglas F Easton104, Angela Cox134.
Abstract
Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regression models adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% confidence interval, CI)] for the minor allele of 1.05 (1.03-1.07), P = 1 × 10(-5). Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), ALS2CR11 (rs59278883) and CFLAR (rs7558475). The association with rs1830298 was replicated in the imputed results from the combined GWAS (P = 3 × 10(-6)), yielding a combined OR (95% CI) of 1.06 (1.04-1.08), P = 1 × 10(-9). Analyses of gene expression associations in peripheral blood and normal breast tissue indicate that CASP8 might be the target gene, suggesting a mechanism involving apoptosis.Entities:
Mesh：
Substances：
Year: 2014 PMID： 25168388 PMCID： PMC4334820 DOI： 10.1093/hmg/ddu431
Source DB: PubMed Journal: Hum Mol Genet ISSN： 0964-6906 Impact factor: 6.150