Lin, Wei-Yu ORCID: 0000-0002-9267-7988, Camp, Nicola J., Ghoussaini, Maya, Beesley, Jonathan ORCID: 0000-0003-1942-325X, Michailidou, Kyriaki ORCID: 0000-0001-7065-1237, Hopper, John L., Apicella, Carmel, Southey, Melissa C., Stone, Jennifer ORCID: 0000-0001-5077-0124, Schmidt, Marjanka K., Broeks, Annegien, Van't Veer, Laura J., Rutgers, Emiel J. Th, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Dos-Santos-Silva, Isabel, Fletcher, Olivia ORCID: 0000-0001-9387-7116, Johnson, Nichola, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Sawyer, Elinor J., Cheng, Timothy, Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Marme, Frederik, Surowy, Harald M., Burwinkel, Barbara, Guenel, Pascal ORCID: 0000-0002-8359-518X, Truong, Therese ORCID: 0000-0002-2943-6786, Menegaux, Florence ORCID: 0000-0003-3363-6411, Mulot, Claire, Bojesen, Stig E., Nordestgaard, Borge G., Nielsen, Sune F., Flyger, Henrik, Benitez, Javier, Zamora, M. Pilar, Arias Perez, Jose Ignacio ORCID: 0000-0003-4500-397X, Menendez, Primitiva, Gonzalez-Neira, Anna ORCID: 0000-0002-5421-2020, Pita, Guillermo ORCID: 0000-0003-2393-0510, Rosario Alonso, M., Alvarez, Nuria, Herrera, Daniel, Anton-Culver, Hoda, Brenner, Hermann ORCID: 0000-0002-6129-1572, Dieffenbach, Aida Karina, Arndt, Volker ORCID: 0000-0001-9320-8684, Stegmaier, Christa, Meindl, Alfons, Lichtner, Peter, Schmutzler, Rita K., Mueller-Myhsok, Bertram, Brauch, Hiltrud ORCID: 0000-0001-7531-2736, Bruening, Thomas, Ko, Yon-Dschun, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Nevanlinna, Heli ORCID: 0000-0002-0916-2976, Aittomaeki, Kristiina, Blomqvist, Carl ORCID: 0000-0003-3041-1938, Khan, Sofia ORCID: 0000-0003-4185-8882, Matsuo, Keitaro ORCID: 0000-0003-1761-6314, Ito, Hidemi, Iwata, Hiroji, Horio, Akiyo, Bogdanova, Natalia V., Antonenkova, Natalia N., Doerk, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa ORCID: 0000-0003-4846-4843, Kosma, Veli-Matti, Hartikainen, Jaana M., Wu, Anna H., Tseng, Chiu-Chen, Van den Berg, David, Stram, Daniel O., Neven, Patrick, Wauters, Els ORCID: 0000-0002-0115-0030, Wildiers, Hans, Lambrechts, Diether ORCID: 0000-0002-3429-302X, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Radice, Paolo ORCID: 0000-0001-6298-4111, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Manoukian, Siranoush, Bonanni, Bernardo, Couch, Fergus J., Wang, Xianshu, Vachon, Celine, Purrington, Kristen, Giles, Graham G., Milne, Roger L., Mclean, Catriona, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick ORCID: 0000-0002-3073-7463, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, Hassan, Norhashimah, Vithana, Eranga Nishanthie, Kristensen, Vessela, Zheng, Wei ORCID: 0000-0003-1226-070X, Deming-Halverson, Sandra, Shrubsole, Martha J., Long, Jirong ORCID: 0000-0002-7433-9766, Winqvist, Robert, Pylkaes, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Devilee, Peter ORCID: 0000-0002-8023-2009, Tollenaar, Robert A. E. M., Seynaeve, Caroline, Van Asperen, Christi J., Garcia-Closas, Montserrat ORCID: 0000-0003-1033-2650, Figueroa, Jonine, Lissowska, Jolanta ORCID: 0000-0003-2695-5799, Brinton, Louise, Czene, Kamila ORCID: 0000-0002-3233-5695, Darabi, Hatef, Eriksson, Mikael, Brand, Judith S. ORCID: 0000-0002-3720-1274, Hooning, Maartje J., Hollestelle, Antoinette ORCID: 0000-0003-1166-1966, Van den Ouweland, Ans M. W., Jager, Agnes, Li, Jingmei ORCID: 0000-0001-8587-7511, Liu, Jianjun ORCID: 0000-0002-3255-3019, Humphreys, Keith, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cross, Simon S., Reed, Malcolm W. R., Blot, William, Signorello, Lisa B., Cai, Qiuyin, Pharoah, Paul D. P., Perkins, Barbara, Shah, Mitul, Blows, Fiona M., Kang, Daehee ORCID: 0000-0003-4031-5878, Yoo, Keun-Young, Noh, Dong-Young, Hartman, Mikael ORCID: 0000-0001-5726-9965, Miao, Hui, Chia, Kee Seng, Putti, Thomas Choudary, Hamann, Ute, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., Jakubowska, Anna ORCID: 0000-0002-5650-0501, Lubinski, Jan ORCID: 0000-0003-2931-3003, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, Mckay, James, Slager, Susan, Toland, Amanda E., Yannoukakos, Drakoulis ORCID: 0000-0001-7509-3510, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Ding, Shian-ling, Ashworth, Alan, Jones, Michael ORCID: 0000-0001-7479-3451, Orr, Nick, Swerdlow, Anthony J., Tsimiklis, Helen, Makalic, Enes, Schmidt, Daniel F., Bui, Quang M., Chanock, Stephen J., Hunter, David J., Hein, Rebecca, Dahmen, Norbert, Beckmann, Lars, Aaltonen, Kirsimari, Muranen, Taru A., Heikkinen, Tuomas ORCID: 0000-0003-1154-6204, Irwanto, Astrid, Rahman, Nazneen ORCID: 0000-0003-4376-0440, Turnbull, Clare A., Waisfisz, Quinten, Meijers-Heijboer, Hanne E. J., Adank, Muriel A., Van der Luijt, Rob B., Hall, Per, Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Dunning, Alison, Easton, Douglas F. and Cox, Angela ORCID: 0000-0002-5138-1099
(2015).
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.
Hum. Mol. Genet., 24 (1).
S. 285 - 299.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
Full text not available from this repository.
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, Cl)] for the minor allele of 1.05(1.03-1.07), P = 1 x 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 x 10(-6)), yielding a combined OR (95% Cl) of 1.06(1.04-1.08), P = 1 x 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.
Item Type: |
Journal Article
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Creators: |
Creators | Email | ORCID | ORCID Put Code |
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Lin, Wei-Yu | UNSPECIFIED | orcid.org/0000-0002-9267-7988 | UNSPECIFIED | Camp, Nicola J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ghoussaini, Maya | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Beesley, Jonathan | UNSPECIFIED | orcid.org/0000-0003-1942-325X | UNSPECIFIED | Michailidou, Kyriaki | UNSPECIFIED | orcid.org/0000-0001-7065-1237 | UNSPECIFIED | Hopper, John L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Apicella, Carmel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Southey, Melissa C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Stone, Jennifer | UNSPECIFIED | orcid.org/0000-0001-5077-0124 | UNSPECIFIED | Schmidt, Marjanka K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Broeks, Annegien | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Van't Veer, Laura J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rutgers, Emiel J. Th | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Muir, Kenneth | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lophatananon, Artitaya | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Stewart-Brown, Sarah | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Siriwanarangsan, Pornthep | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Fasching, Peter A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Haeberle, Lothar | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ekici, Arif B. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Beckmann, Matthias W. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Peto, Julian | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dos-Santos-Silva, Isabel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Fletcher, Olivia | UNSPECIFIED | orcid.org/0000-0001-9387-7116 | UNSPECIFIED | Johnson, Nichola | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bolla, Manjeet K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wang, Qin | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dennis, Joe | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Sawyer, Elinor J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Cheng, Timothy | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tomlinson, Ian | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kerin, Michael J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Miller, Nicola | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Marme, Frederik | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Surowy, Harald M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Burwinkel, Barbara | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Guenel, Pascal | UNSPECIFIED | orcid.org/0000-0002-8359-518X | UNSPECIFIED | Truong, Therese | UNSPECIFIED | orcid.org/0000-0002-2943-6786 | UNSPECIFIED | Menegaux, Florence | UNSPECIFIED | orcid.org/0000-0003-3363-6411 | UNSPECIFIED | Mulot, Claire | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bojesen, Stig E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Nordestgaard, Borge G. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Nielsen, Sune F. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Flyger, Henrik | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Benitez, Javier | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Zamora, M. Pilar | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Arias Perez, Jose Ignacio | UNSPECIFIED | orcid.org/0000-0003-4500-397X | UNSPECIFIED | Menendez, Primitiva | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Gonzalez-Neira, Anna | UNSPECIFIED | orcid.org/0000-0002-5421-2020 | UNSPECIFIED | Pita, Guillermo | UNSPECIFIED | orcid.org/0000-0003-2393-0510 | UNSPECIFIED | Rosario Alonso, M. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Alvarez, Nuria | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Herrera, Daniel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Anton-Culver, Hoda | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Brenner, Hermann | UNSPECIFIED | orcid.org/0000-0002-6129-1572 | UNSPECIFIED | Dieffenbach, Aida Karina | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Arndt, Volker | UNSPECIFIED | orcid.org/0000-0001-9320-8684 | UNSPECIFIED | Stegmaier, Christa | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Meindl, Alfons | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lichtner, Peter | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schmutzler, Rita K. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mueller-Myhsok, Bertram | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Brauch, Hiltrud | UNSPECIFIED | orcid.org/0000-0001-7531-2736 | UNSPECIFIED | Bruening, Thomas | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Ko, Yon-Dschun | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Tessier, Daniel C. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vincent, Daniel | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bacot, Francois | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Nevanlinna, Heli | UNSPECIFIED | orcid.org/0000-0002-0916-2976 | UNSPECIFIED | Aittomaeki, Kristiina | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Blomqvist, Carl | UNSPECIFIED | orcid.org/0000-0003-3041-1938 | UNSPECIFIED | Khan, Sofia | UNSPECIFIED | orcid.org/0000-0003-4185-8882 | UNSPECIFIED | Matsuo, Keitaro | UNSPECIFIED | orcid.org/0000-0003-1761-6314 | UNSPECIFIED | Ito, Hidemi | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Iwata, Hiroji | UNSPECIFIED | UNSPECIFIED 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orcid.org/0000-0002-0115-0030 | UNSPECIFIED | Wildiers, Hans | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Lambrechts, Diether | UNSPECIFIED | orcid.org/0000-0002-3429-302X | UNSPECIFIED | Chang-Claude, Jenny | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Rudolph, Anja | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Seibold, Petra | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Flesch-Janys, Dieter | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Radice, Paolo | UNSPECIFIED | orcid.org/0000-0001-6298-4111 | UNSPECIFIED | Peterlongo, Paolo | UNSPECIFIED | orcid.org/0000-0001-6951-6855 | UNSPECIFIED | Manoukian, Siranoush | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Bonanni, Bernardo | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Couch, Fergus J. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Wang, Xianshu | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vachon, Celine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Purrington, Kristen | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Giles, Graham G. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Milne, Roger L. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Mclean, Catriona | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Haiman, Christopher A. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Henderson, Brian E. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Schumacher, Fredrick | UNSPECIFIED | orcid.org/0000-0002-3073-7463 | UNSPECIFIED | Le Marchand, Loic | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Simard, Jacques | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Goldberg, Mark S. | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Labreche, France | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Dumont, Martine | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Teo, Soo Hwang | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Yip, Cheng Har | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Hassan, Norhashimah | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Vithana, Eranga Nishanthie | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Kristensen, Vessela | UNSPECIFIED | UNSPECIFIED | UNSPECIFIED | Zheng, Wei | 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|
URN: |
urn:nbn:de:hbz:38-419001 |
DOI: |
10.1093/hmg/ddu431 |
Journal or Publication Title: |
Hum. Mol. Genet. |
Volume: |
24 |
Number: |
1 |
Page Range: |
S. 285 - 299 |
Date: |
2015 |
Publisher: |
OXFORD UNIV PRESS |
Place of Publication: |
OXFORD |
ISSN: |
1460-2083 |
Language: |
English |
Faculty: |
Unspecified |
Divisions: |
Unspecified |
Subjects: |
no entry |
Uncontrolled Keywords: |
Keywords | Language |
---|
GENOME-WIDE ASSOCIATION; CASP8; VARIANTS; LOCI | Multiple languages | Biochemistry & Molecular Biology; Genetics & Heredity | Multiple languages |
|
URI: |
http://kups.ub.uni-koeln.de/id/eprint/41900 |
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