Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors.
Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors.
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DOI：
10.1371/journal.pgen.1003284
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发表时间：
2013
期刊：
影响因子：
4.5
通讯作者：
Chang-Claude J
中科院分区：
文献类型：
--
作者：
Nickels S;Truong T;Hein R;Stevens K;Buck K;Behrens S;Eilber U;Schmidt M;Häberle L;Vrieling A;Gaudet M;Figueroa J;Schoof N;Spurdle AB;Rudolph A;Fasching PA;Hopper JL;Makalic E;Schmidt DF;Southey MC;Beckmann MW;Ekici AB;Fletcher O;Gibson L;Silva Idos S;Peto J;Humphreys MK;Wang J;Cordina-Duverger E;Menegaux F;Nordestgaard BG;Bojesen SE;Lanng C;Anton-Culver H;Ziogas A;Bernstein L;Clarke CA;Brenner H;Müller H;Arndt V;Stegmaier C;Brauch H;Brüning T;Harth V;Genica Network;Mannermaa A;Kataja V;Kosma VM;Hartikainen JM;kConFab;AOCS Management Group;Lambrechts D;Smeets D;Neven P;Paridaens R;Flesch-Janys D;Obi N;Wang-Gohrke S;Couch FJ;Olson JE;Vachon CM;Giles GG;Severi G;Baglietto L;Offit K;John EM;Miron A;Andrulis IL;Knight JA;Glendon G;Mulligan AM;Chanock SJ;Lissowska J;Liu J;Cox A;Cramp H;Connley D;Balasubramanian S;Dunning AM;Shah M;Trentham-Dietz A;Newcomb P;Titus L;Egan K;Cahoon EK;Rajaraman P;Sigurdson AJ;Doody MM;Guénel P;Pharoah PD;Schmidt MK;Hall P;Easton DF;Garcia-Closas M;Milne RL;Chang-Claude J
各种常见的遗传易感性位点已被确定为乳腺癌;然而，尚不清楚它们如何与生活方式/环境风险因素联合收割机结合以影响风险。我们进行了一项国际合作研究，以评估乳腺癌风险的基因-环境相互作用。汇总了乳腺癌协会联盟的24项研究的数据。我们使用了34,793例浸润性乳腺癌和41,099例对照，研究了与23个单核苷酸多态性相关的相对风险是否被10个已确定的环境风险因素所改变（初潮年龄、产次、母乳喂养、体重指数、身高、口服避孕药使用、绝经期激素治疗使用、饮酒、吸烟，身体活动）在欧洲血统的妇女。我们使用逻辑回归模型按研究分层，并调整年龄，并进行似然比检验，以评估基因-环境相互作用。所有统计检验均为双侧检验。我们复制了先前报道的LSP 1-rs3817198与产次之间的潜在相互作用（Pinteraction = 2.4×10−6）以及CASP 8-rs 17468277与饮酒之间的潜在相互作用（Pinteraction = 3.1×10−4）。 总体而言，LSP 1-rs3817198的每等位基因比值比（95%置信区间）在未生育女性中为1.08（1.01-1.16），范围为1.03（0.96-1.10）（生育1次的经产女性）至1.26（1.16-1.37）（至少生育4次的女性）。对于CASP 8-rs 17468277，酒精摄入量<20 g/天的人的每等位基因OR为0.91（0.85-0.98），饮酒量≥20 g/天的人的每等位基因OR为1.45（1.14-1.85）。此外，在1p11.2-rs 11249433和曾经生育之间发现了相互作用（P相互作用= 5.3×10−5），在生育妇女中每个等位基因的OR为1.14（1.11-1.17），在未生育妇女中为0.98（0.92-1.05）。 这些数据提供了第一个强有力的证据，表明与一些常见遗传变异相关的乳腺癌风险可能会随环境风险因素而变化。乳腺癌涉及许多遗传，环境和行为风险因素的综合影响，这些因素对每个人来说都是独一无二的。高危基因，如BRCA 1和BRCA 2，只占疾病发生的一小部分。最近的全基因组研究已经确定了20多种常见的遗传变异，这些变异单独地改变乳腺癌风险非常温和。我们进行了一项国际合作研究，以确定这些遗传变异的影响是否随环境因素而变化，例如产次，体重指数（BMI），身高，口服避孕药的使用，绝经激素治疗的使用，饮酒，吸烟和体育活动，这些因素已知会影响患乳腺癌的风险。使用来自乳腺癌协会联盟（BCAC）的24项研究的汇总数据，我们提供了第一个令人信服的证据，表明与LSP 1遗传变异相关的乳腺癌风险随出生次数而不同，与CASP 8变异相关的风险因饮酒量而改变。另一种遗传变异的影响也可能受到生殖因素的影响。这些知识将刺激新的研究，以更好地了解乳腺癌的发展。
Various common genetic susceptibility loci have been identified for breast cancer; however, it is unclear how they combine with lifestyle/environmental risk factors to influence risk. We undertook an international collaborative study to assess gene-environment interaction for risk of breast cancer. Data from 24 studies of the Breast Cancer Association Consortium were pooled. Using up to 34,793 invasive breast cancers and 41,099 controls, we examined whether the relative risks associated with 23 single nucleotide polymorphisms were modified by 10 established environmental risk factors (age at menarche, parity, breastfeeding, body mass index, height, oral contraceptive use, menopausal hormone therapy use, alcohol consumption, cigarette smoking, physical activity) in women of European ancestry. We used logistic regression models stratified by study and adjusted for age and performed likelihood ratio tests to assess gene–environment interactions. All statistical tests were two-sided. We replicated previously reported potential interactions between LSP1-rs3817198 and parity (Pinteraction = 2.4×10−6) and between CASP8-rs17468277 and alcohol consumption (Pinteraction = 3.1×10−4). Overall, the per-allele odds ratio (95% confidence interval) for LSP1-rs3817198 was 1.08 (1.01–1.16) in nulliparous women and ranged from 1.03 (0.96–1.10) in parous women with one birth to 1.26 (1.16–1.37) in women with at least four births. For CASP8-rs17468277, the per-allele OR was 0.91 (0.85–0.98) in those with an alcohol intake of <20 g/day and 1.45 (1.14–1.85) in those who drank ≥20 g/day. Additionally, interaction was found between 1p11.2-rs11249433 and ever being parous (Pinteraction = 5.3×10−5), with a per-allele OR of 1.14 (1.11–1.17) in parous women and 0.98 (0.92–1.05) in nulliparous women. These data provide first strong evidence that the risk of breast cancer associated with some common genetic variants may vary with environmental risk factors. Breast cancer involves combined effects of numerous genetic, environmental, and behavioral risk factors that are unique to each individual. High risk genes, such as BRCA1 and BRCA2, account for only a small proportion of disease occurrence. Recent genome-wide research has identified more than 20 common genetic variants, which individually alter breast cancer risk very moderately. We undertook an international collaborative study to determine whether the effect of these genetic variants vary with environmental factors, such as parity, body mass index (BMI), height, oral contraceptive use, menopausal hormone therapy use, alcohol consumption, cigarette smoking, and physical activity, which are known to affect risk of developing breast cancer. Using pooled data from 24 studies of the Breast Cancer Association Consortium (BCAC), we provide first convincing evidence that the breast cancer risk associated with a genetic variant in LSP1 differs with the number of births and that the risk associated with a CASP8 variant is altered by high alcohol consumption. The effect of an additional genetic variant might also be modified by reproductive factors. This knowledge will stimulate new research towards a better understanding of breast cancer development.
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DOI：
10.1186/bcr2797
发表时间：
2010
期刊：
Breast cancer research : BCR
影响因子：
--
作者：
Milne RL;Gaudet MM;Spurdle AB;Fasching PA;Couch FJ;Benítez J;Arias Pérez JI;Zamora MP;Malats N;Dos Santos Silva I;Gibson LJ;Fletcher O;Johnson N;Anton-Culver H;Ziogas A;Figueroa J;Brinton L;Sherman ME;Lissowska J;Hopper JL;Dite GS;Apicella C;Southey MC;Sigurdson AJ;Linet MS;Schonfeld SJ;Freedman DM;Mannermaa A;Kosma VM;Kataja V;Auvinen P;Andrulis IL;Glendon G;Knight JA;Weerasooriya N;Cox A;Reed MW;Cross SS;Dunning AM;Ahmed S;Shah M;Brauch H;Ko YD;Brüning T;GENICA Network;Lambrechts D;Reumers J;Smeets A;Wang-Gohrke S;Hall P;Czene K;Liu J;Irwanto AK;Chenevix-Trench G;Holland H;kConFab;AOCS;Giles GG;Baglietto L;Severi G;Bojensen SE;Nordestgaard BG;Flyger H;John EM;West DW;Whittemore AS;Vachon C;Olson JE;Fredericksen Z;Kosel M;Hein R;Vrieling A;Flesch-Janys D;Heinz J;Beckmann MW;Heusinger K;Ekici AB;Haeberle L;Humphreys MK;Morrison J;Easton DF;Pharoah PD;García-Closas M;Goode EL;Chang-Claude J
通讯作者：
Chang-Claude J
影响因子：
30.8
作者：
Ghoussaini, Maya;Fletcher, Olivia;Michailidou, Kyriaki;Turnbull, Clare;Schmidt, Marjanka K.;Dicks, Ed;Dennis, Joe;Wang, Qin;Humphreys, Manjeet K.;Luccarini, Craig;Baynes, Caroline;Conroy, Don;Maranian, Melanie;Ahmed, Shahana;Driver, Kristy;Johnson, Nichola;Orr, Nicholas;Silva, Isabel dos Santos;Waisfisz, Quinten;Meijers-Heijboer, Hanne;Uitterlinden, Andre G.;Rivadeneira, Fernando;Hall, Per;Czene, Kamila;Irwanto, Astrid;Liu, Jianjun;Nevanlinna, Heli;Aittomaki, Kristiina;Blomqvist, Carl;Meindl, Alfons;Schmutzler, Rita K.;Mueller-Myhsok, Bertram;Lichtner, Peter;Chang-Claude, Jenny;Hein, Rebecca;Nickels, Stefan;Flesch-Janys, Dieter;Tsimiklis, Helen;Makalic, Enes;Schmidt, Daniel;Bui, Minh;Hopper, John L.;Apicella, Carmel;Park, Daniel J.;Southey, Melissa;Hunter, David J.;Chanock, Stephen J.;Broeks, Annegien;Verhoef, Senno;Hogervorst, Frans B. L.;Fasching, Peter A.;Lux, Michael P.;Beckmann, Matthias W.;Ekici, Arif B.;Sawyer, Elinor;Tomlinson, Ian;Kerin, Michael;Marme, Frederik;Schneeweiss, Andreas;Sohn, Christof;Burwinkel, Barbara;Guenel, Pascal;Truong, Therese;Cordina-Duverger, Emilie;Menegaux, Florence;Bojesen, Stig E.;Nordestgaard, Borge G.;Nielsen, Sune F.;Flyger, Henrik;Milne, Roger L.;Rosario Alonso, M.;Gonzalez-Neira, Anna;Benitez, Javier;Anton-Culver, Hoda;Ziogas, Argyrios;Bernstein, Leslie;Dur, Christina Clarke;Brenner, Hermann;Mueller, Heiko;Arndt, Volker;Stegmaier, Christa;Justenhoven, Christina;Brauch, Hiltrud;Bruening, Thomas;Wang-Gohrke, Shan;Eilber, Ursula;Doerk, Thilo;Schuermann, Peter;Bremer, Michael;Hillemanns, Peter;Bogdanova, Natalia V.;Antonenkova, Natalia N.;Rogov, Yuri I.;Karstens, Johann H.;Bermisheva, Marina;Prokofieva, Darya;Khusnutdinova, Elza;Lindblom, Annika;Margolin, Sara;Mannermaa, Arto;Kataja, Vesa;Kosma, Veli-Matti;Hartikainen, Jaana M.;Lambrechts, Diether;Yesilyurt, Betul T.;Floris, Giuseppe;Leunen, Karin;Manoukian, Siranoush;Bonanni, Bernardo;Fortuzzi, Stefano;Peterlongo, Paolo;Couch, Fergus J.;Wang, Xianshu;Stevens, Kristen;Lee, Adam;Giles, Graham G.;Baglietto, Laura;Severi, Gianluca;McLean, Catriona;Alnaes, Grethe Grenaker;Kristensen, Vessela;Borrensen-Dale, Anne-Lise;John, Esther M.;Miron, Alexander;Winqvist, Robert;Pylkas, Katri;Jukkola-Vuorinen, Arja;Kauppila, Saila;Andrulis, Irene L.;Glendon, Gord;Mulligan, Anna Marie;Devilee, Peter;van Asperen, Christie J.;Tollenaar, Rob A. E. M.;Seynaeve, Caroline;Figueroa, Jonine D.;Garcia-Closas, Montserrat;Brinton, Louise;Lissowska, Jolanta;Hooning, Maartje J.;Hollestelle, Antoinette;Oldenburg, Rogier A.;van den Ouweland, Ans M. W.;Cox, Angela;Reed, Malcolm W. R.;Shah, Mitul;Jakubowska, Ania;Lubinski, Jan;Jaworska, Katarzyna;Durda, Katarzyna;Jones, Michael;Schoemaker, Minouk;Ashworth, Alan;Swerdlow, Anthony;Beesley, Jonathan;Chen, Xiaoqing;Muir, Kenneth R.;Lophatananon, Artitaya;Rattanamongkongul, Suthee;Chaiwerawattana, Arkom;Kang, Daehee;Yoo, Keun-Young;Noh, Dong-Young;Shen, Chen-Yang;Yu, Jyh-Cherng;Wu, Pei-Ei;Hsiung, Chia-Ni;Perkins, Annie;Swann, Ruth;Velentzis, Louiza;Eccles, Diana M.;Tapper, Will J.;Gerty, Susan M.;Graham, Nikki J.;Ponder, Bruce A. J.;Chenevix-Trench, Georgia;Pharoah, Paul D. P.;Lathrop, Mark;Dunning, Alison M.;Rahman, Nazneen;Peto, Julian;Easton, Douglas F.
通讯作者：
Easton, Douglas F.
影响因子：
2.1
作者：
Hein, Rebecca;Beckmann, Lars;Chang-Claude, Jenny
通讯作者：
Chang-Claude, Jenny
影响因子：
6.4
作者：
Fiesch-Janys, Dieter;Slanger, Tracy;Chang-Claude, Jenny
通讯作者：
Chang-Claude, Jenny
乳腺癌中的 NOTCH2：SNP rs11249433 与无 TP53 突变的 ER 阳性乳腺肿瘤中基因表达的关联。
影响因子：
37.3
作者：
Fu, Yi-Ping;Edvardsen, Hege;Kaushiva, Alpana;Arhancet, Juan P.;Howe, Tiffany M.;Kohaar, Indu;Porter-Gill, Patricia;Shah, Anushi;Landmark-Hoyvik, Hege;Fossa, Sophie D.;Ambs, Stefan;Naume, Bjorn;Borresen-Dale, Anne-Lise;Kristensen, Vessela N.;Prokunina-Olsson, Ludmila
通讯作者：
Prokunina-Olsson, Ludmila