Darabi, Hatef, Beesley, Jonathan ORCID: 0000-0003-1942-325X, Droit, Arnaud, Kar, Siddhartha, Nord, Silje ORCID: 0000-0002-3271-5356, Marjaneh, Mahdi Moradi, Soucy, Penny, Michailidou, Kyriaki ORCID: 0000-0001-7065-1237, Ghoussaini, Maya, Wahl, Hanna Fues, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Alonso, M. Rosario, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker ORCID: 0000-0001-9320-8684, Beckmann, Matthias W., Benitez, Javier, Bogdanova, Natalia V., Bojesen, Stig E., Brauch, Hiltrud ORCID: 0000-0001-7531-2736, Brenner, Hermann ORCID: 0000-0002-6129-1572, Broeks, Annegien, Bruening, Thomas, Burwinkel, Barbara, Chang-Claude, Jenny, Choi, Ji-Yeob, Conroy, Don M., Couch, Fergus J., Cox, Angela ORCID: 0000-0002-5138-1099, Cross, Simon S., Czene, Kamila, Devilee, Peter ORCID: 0000-0002-8023-2009, Doerk, Thilo, Easton, Douglas F., Fasching, Peter A., Figueroa, Jonine, Fletcher, Olivia ORCID: 0000-0001-9387-7116, Flyger, Henrik, Galle, Eva ORCID: 0000-0001-9276-2552, Garcia-Closas, Montserrat, Giles, Graham G., Goldberg, Mark S., Gonzalez-Neira, Anna ORCID: 0000-0002-5421-2020, Guenel, Pascal ORCID: 0000-0002-8359-518X, Haiman, Christopher A., Hallberg, Emily, Hamann, Ute, Hartman, Mikael ORCID: 0000-0001-5726-9965, Hollestelle, Antoinette, Hopper, John L., Ito, Hidemi, Jakubowska, Anna ORCID: 0000-0002-5650-0501, Johnson, Nichola, Kang, Daehee, Khan, Sofia ORCID: 0000-0003-4185-8882, Kosma, Veli-Matti, Kriege, Mieke, Kristensen, Vessela, Lambrechts, Diether ORCID: 0000-0002-3429-302X, Le Marchand, Loic, Lee, Soo Chin, Lindblom, Annika, Lophatananon, Artitaya, Lubinski, Jan ORCID: 0000-0003-2931-3003, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Matsuo, Keitaro ORCID: 0000-0003-1761-6314, Mayes, Rebecca, Mckay, James, Meindl, Alfons, Milne, Roger L., Muir, Kenneth, Neuhausen, Susan L., Nevanlinna, Heli, Olswold, Curtis, Orr, Nick, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Pita, Guillermo, Pylkaes, Katri, Rudolph, Anja, Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Seynaeve, Caroline, Shah, Mitul, Shen, Chen-Yang, Shu, Xiao-Ou, Southey, Melissa C., Stram, Daniel O., Surowy, Harald ORCID: 0000-0002-3595-9188, Swerdlow, Anthony ORCID: 0000-0001-5550-4159, Teo, Soo H., Tessier, Daniel C., Tomlinson, Ian, Torres, Diana, Truong, Therese, Vachon, Celine M., Vincent, Daniel, Winqvist, Robert, Wu, Anna H., Wu, Pei-Ei, Yip, Cheng Har, Zheng, Wei ORCID: 0000-0003-1226-070X, Pharoah, Paul D. P., Hall, Per, Edwards, Stacey L., Simard, Jacques, French, Juliet D., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587 and Dunning, Alison M. (2016). Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs). Sci Rep, 6. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Full text not available from this repository.

Abstract

Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90-0.94; P = 8.96 x 10(-15))) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 x 10-09, r(2) = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 x 10(-11), r(2) = 0.83 with lead SNP). Analyses indicate only one causal SNP in the region and several enhancer elements targeting STXBP4 are located within the 53 kb association signal. Expression studies in breast tumor tissues found SNP rs2787486 to be associated with increased STXBP4 expression, suggesting this may be a target gene of this locus.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Darabi, HatefUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beesley, JonathanUNSPECIFIEDorcid.org/0000-0003-1942-325XUNSPECIFIED
Droit, ArnaudUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kar, SiddharthaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nord, SiljeUNSPECIFIEDorcid.org/0000-0002-3271-5356UNSPECIFIED
Marjaneh, Mahdi MoradiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Soucy, PennyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Michailidou, KyriakiUNSPECIFIEDorcid.org/0000-0001-7065-1237UNSPECIFIED
Ghoussaini, MayaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wahl, Hanna FuesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bolla, Manjeet K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wang, QinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dennis, JoeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alonso, M. RosarioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Andrulis, Irene L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Anton-Culver, HodaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arndt, VolkerUNSPECIFIEDorcid.org/0000-0001-9320-8684UNSPECIFIED
Beckmann, Matthias W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Benitez, JavierUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bogdanova, Natalia V.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bojesen, Stig E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brauch, HiltrudUNSPECIFIEDorcid.org/0000-0001-7531-2736UNSPECIFIED
Brenner, HermannUNSPECIFIEDorcid.org/0000-0002-6129-1572UNSPECIFIED
Broeks, AnnegienUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bruening, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Burwinkel, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chang-Claude, JennyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Choi, Ji-YeobUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Conroy, Don M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Couch, Fergus J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cox, AngelaUNSPECIFIEDorcid.org/0000-0002-5138-1099UNSPECIFIED
Cross, Simon S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Czene, KamilaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Devilee, PeterUNSPECIFIEDorcid.org/0000-0002-8023-2009UNSPECIFIED
Doerk, ThiloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Easton, Douglas F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fasching, Peter A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Figueroa, JonineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fletcher, OliviaUNSPECIFIEDorcid.org/0000-0001-9387-7116UNSPECIFIED
Flyger, HenrikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Galle, EvaUNSPECIFIEDorcid.org/0000-0001-9276-2552UNSPECIFIED
Garcia-Closas, MontserratUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giles, Graham G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Goldberg, Mark S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gonzalez-Neira, AnnaUNSPECIFIEDorcid.org/0000-0002-5421-2020UNSPECIFIED
Guenel, PascalUNSPECIFIEDorcid.org/0000-0002-8359-518XUNSPECIFIED
Haiman, Christopher A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hallberg, EmilyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hamann, UteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hartman, MikaelUNSPECIFIEDorcid.org/0000-0001-5726-9965UNSPECIFIED
Hollestelle, AntoinetteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hopper, John L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ito, HidemiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jakubowska, AnnaUNSPECIFIEDorcid.org/0000-0002-5650-0501UNSPECIFIED
Johnson, NicholaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kang, DaeheeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Khan, SofiaUNSPECIFIEDorcid.org/0000-0003-4185-8882UNSPECIFIED
Kosma, Veli-MattiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kriege, MiekeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kristensen, VesselaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lambrechts, DietherUNSPECIFIEDorcid.org/0000-0002-3429-302XUNSPECIFIED
Le Marchand, LoicUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lee, Soo ChinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lindblom, AnnikaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lophatananon, ArtitayaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lubinski, JanUNSPECIFIEDorcid.org/0000-0003-2931-3003UNSPECIFIED
Mannermaa, ArtoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Manoukian, SiranoushUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Margolin, SaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Matsuo, KeitaroUNSPECIFIEDorcid.org/0000-0003-1761-6314UNSPECIFIED
Mayes, RebeccaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mckay, JamesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Meindl, AlfonsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Milne, Roger L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Muir, KennethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neuhausen, Susan L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nevanlinna, HeliUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Olswold, CurtisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Orr, NickUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peterlongo, PaoloUNSPECIFIEDorcid.org/0000-0001-6951-6855UNSPECIFIED
Pita, GuillermoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pylkaes, KatriUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rudolph, AnjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sangrajrang, SuleepornUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sawyer, Elinor J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmidt, Marjanka K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmutzler, Rita K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Seynaeve, CarolineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shah, MitulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shen, Chen-YangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shu, Xiao-OuUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Southey, Melissa C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stram, Daniel O.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Surowy, HaraldUNSPECIFIEDorcid.org/0000-0002-3595-9188UNSPECIFIED
Swerdlow, AnthonyUNSPECIFIEDorcid.org/0000-0001-5550-4159UNSPECIFIED
Teo, Soo H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tessier, Daniel C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tomlinson, IanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Torres, DianaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Truong, ThereseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vachon, Celine M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vincent, DanielUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Winqvist, RobertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wu, Anna H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wu, Pei-EiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yip, Cheng HarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zheng, WeiUNSPECIFIEDorcid.org/0000-0003-1226-070XUNSPECIFIED
Pharoah, Paul D. P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hall, PerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Edwards, Stacey L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Simard, JacquesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
French, Juliet D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chenevix-Trench, GeorgiaUNSPECIFIEDorcid.org/0000-0002-1878-2587UNSPECIFIED
Dunning, Alison M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-262535
DOI: 10.1038/srep32512
Journal or Publication Title: Sci Rep
Volume: 6
Date: 2016
Publisher: NATURE PUBLISHING GROUP
Place of Publication: LONDON
ISSN: 2045-2322
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
SUSCEPTIBILITY LOCI; HUMAN GENOME; RISK LOCUS; ASSOCIATION; EXPRESSION; VARIANTS; REVEALSMultiple languages
Multidisciplinary SciencesMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/26253

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