Evidence of Gene-Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors

被引：127

作者：

Nickels, Stefan ^{[1
]}

Truong, Therese ^{[2
]}

Hein, Rebecca ^{[3
]}

Stevens, Kristen ^{[4
]}

Buck, Katharina ^{[5
]}

Behrens, Sabine ^{[1
]}

Eilber, Ursula ^{[1
]}

Schmidt, Martina ^{[6
]}

Haeberle, Lothar ^{[7
]}

Vrieling, Alina ^{[1
,8
]}

Gaudet, Mia ^{[9
]}

Figueroa, Jonine ^{[10
]}

Schoof, Nils ^{[11
]}

Spurdle, Amanda B. ^{[12
]}

Rudolph, Anja ^{[1
]}

Fasching, Peter A. ^{[7
,13
]}

Hopper, John L. ^{[14
]}

Makalic, Enes ^{[14
]}

Schmidt, Daniel F. ^{[14
]}

Southey, Melissa C. ^{[15
]}

Beckmann, Matthias W. ^{[7
]}

Ekici, Arif B. ^{[16
]}

Fletcher, Olivia ^{[17
]}

Gibson, Lorna ^{[18
]}

Silva, Isabel dos Santos ^{[18
]}

Peto, Julian ^{[18
]}

Humphreys, Manjeet K. ^{[19
]}

Wang, Jean ^{[19
]}

Cordina-Duverger, Emilie ^{[2
]}

Menegaux, Florence ^{[2
]}

Nordestgaard, Borge G. ^{[20
,21
]}

Bojesen, Stig E. ^{[20
,21
]}

Lanng, Charlotte ^{[22
]}

Anton-Culver, Hoda ^{[23
]}

Ziogas, Argyrios ^{[23
]}

Bernstein, Leslie ^{[24
]}

Clarke, Christina A. ^{[25
,26
]}

Brenner, Hermann ^{[27
]}

Mueller, Heiko ^{[27
]}

Arndt, Volker ^{[27
]}

Stegmaier, Christa ^{[28
]}

Brauch, Hiltrud ^{[29
,30
]}

Bruening, Thomas ^{[31
]}

Harth, Volker ^{[32
,33
,34
]}

Mannermaa, Arto ^{[36
,37
]}

Kataja, Vesa ^{[37
,38
]}

Kosma, Veli-Matti ^{[36
,37
]}

Hartikainen, Jaana M. ^{[36
,37
]}

Lambrechts, Diether ^{[40
]}

Smeets, Dominiek ^{[40
]}

机构：

[1] German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany

[2] INSERM, CESP Ctr Res Epidemiol & Populat Hlth, Environm Epidemiol Canc U1018, Villejuif, France

[3] Univ Cologne, PMV Res Grp, Dept Child & Adolescent Psychiat & Psychotherapy, D-50931 Cologne, Germany

[4] Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA

[5] Natl Ctr Tumor Dis, Dept Prevent Oncol, Heidelberg, Germany

[6] German Canc Res Ctr, Environm Epidemiol Unit, Heidelberg, Germany

[7] Univ Erlangen Nurnberg, Dept Gynecol & Obstet, Univ Hosp, D-91054 Erlangen, Germany

[8] Radboud Univ Nijmegen Med Ctr, Dept Hlth Evidence, Nijmegen, Netherlands

[9] Amer Canc Soc, Epidemiol Res Program, Div Canc Epidemiol, Atlanta, GA 30329 USA

[10] NCI, Div Canc Epidemiol & Genet, Rockville, MD USA

[11] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden

[12] Queensland Inst Med Res, Herston, Qld 4006, Australia

[13] Univ Calif Los Angeles, David Geffen Sch Med, Dept Med, Los Angeles, CA 90095 USA

[14] Univ Melbourne, Ctr Mol Environm Genet & Analyt Epidemiol, Melbourne, Vic, Australia

[15] Univ Melbourne, Dept Pathol, Melbourne, Vic, Australia

[16] Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany

[17] Inst Canc Res, Breakthrough Breast Canc Res Ctr, London SW3 6JB, England

[18] London Sch Hyg & Trop Med, London WC1, England

[19] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge, England

[20] Univ Copenhagen, Copenhagen Gen Populat Study, Herlev Univ Hosp, Copenhagen, Denmark

[21] Univ Copenhagen, Dept Clin Biochem, Herlev Univ Hosp, Copenhagen, Denmark

[22] Univ Copenhagen, Dept Breast Surg, Herlev Univ Hosp, Copenhagen, Denmark

[23] Univ Calif Irvine, Dept Epidemiol, Irvine, CA USA

[24] City Hope Natl Med Ctr, Beckman Res Inst, Duarte, CA USA

[25] Canc Prevent Inst Calif, Fremont, CA USA

[26] Stanford Univ, Dept Hlth Res & Policy, Sch Med, Div Epidemiol, Stanford, CA 94305 USA

[27] German Canc Res Ctr, Div Clin Epidemiol & Ageing Res, Heidelberg, Germany

[28] Saarland Canc Registry, Saarbrucken, Germany

[29] Dr Margarete Fischer Bosch Inst Clin Pharmacol, Stuttgart, Germany

[30] Univ Tubingen, Tubingen, Germany

[31] Inst Ruhr Univ Bochum IPA, Inst Prevent & Occupat Med German Social Accid In, Bochum, Germany

[32] Univ Saarland, Med Ctr, Inst & Outpatient Clin Occupat Med, Homburg, Germany

[33] Univ Saarland, Fac Med, Homburg, Germany

[34] Univ Med Ctr Hamburg Eppendorf, Inst Occupat Med & Maritime Med, Hamburg, Germany

[35] German Canc Res Ctr, Heidelberg, Germany

[36] Univ Eastern Finland, Sch Med, Inst Clin Med, Dept Pathol & Forens Med, Kuopio, Finland

[37] Univ Eastern Finland, Bioctr Kuopio, Canc Ctr Eastern Finland, Kuopio, Finland

[38] Univ Eastern Finland, Sch Med, Inst Clin Med, Dept Oncol, Kuopio, Finland

[39] Peter MacCallum Canc Ctr, Kathleen Cuningham Fdn Resesarch Familial Breast, East Melbourne, Australia

[40] Katholieke Univ Leuven VIB, Vesalius Res Ctr, Louvain, Belgium

[41] Univ Hosp Gasthuisberg, Multidisciplinary Breast Ctr, B-3000 Louvain, Belgium

[42] Univ Clin Hamburg Eppendorf, Dept Canc Epidemiol, Clin Canc Registry, Hamburg, Germany

[43] Univ Clin Hamburg Eppendorf, Inst Med Biometr & Epidemiol, Hamburg, Germany

[44] Univ Ulm, Dept Obstet & Gynecol, D-89069 Ulm, Germany

[45] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA

[46] Canc Council Victoria, Canc Epidemiol Ctr, Melbourne, Vic, Australia

[47] Univ Melbourne, Ctr Mol Environm Genet & Analyt Epidemiol, Melbourne, Vic, Australia

[48] Mem Sloan Kettering Canc Ctr, New York, NY 10021 USA

[49] Dana Farber Canc Inst, Boston, MA 02115 USA

[50] Mt Sinai Hosp, Samuel Lunenfeld Res Inst, Ontario Canc Genet Network, Fred A Litwin Ctr Canc Genet, Toronto, ON M5G 1X5, Canada

来源：

PLOS GENETICS | 2013年 / 9卷 / 03期

基金：

美国国家卫生研究院; 澳大利亚国家健康与医学研究理事会; 芬兰科学院; 英国医学研究理事会;

关键词：

GENOME-WIDE ASSOCIATION; MAMMOGRAPHIC DENSITY; 14Q24.1; RAD51L1; HORMONE-THERAPY; POOLED ANALYSIS; TUMOR SUBTYPES; VARIANTS; CONSORTIUM; FGFR2; WOMEN;

D O I：

10.1371/journal.pgen.1003284

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 (P-interaction = 2.4 x 10(-6)) and between CASP8-rs17468277 and alcohol consumption (P-interaction = 3.1 x 10(-4)). Overall, the perallele 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 (P-interaction = 5.3 x 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.

引用

页数：14

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