Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women

被引：31

作者：

Adedokun, Babatunde ^{[1
]}

Du, Zhaohui ^{[2
]}

Gao, Guimin ^{[3
]}

Ahearn, Thomas U. ^{[4
]}

Lunetta, Kathryn L. ^{[5
]}

Zirpoli, Gary ^{[6
]}

Figueroa, Jonine ^{[7
,8
]}

John, Esther M. ^{[9
,10
,11
]}

Bernstein, Leslie ^{[12
]}

Zheng, Wei ^{[13
]}

Hu, Jennifer J. ^{[14
]}

Ziegler, Regina G. ^{[4
]}

Nyante, Sarah ^{[15
]}

Bandera, Elisa, V ^{[16
]}

Ingles, Sue A. ^{[2
]}

Press, Michael F. ^{[17
]}

Deming-Halverson, Sandra L. ^{[13
]}

Rodriguez-Gil, Jorge L. ^{[18
]}

Yao, Song ^{[19
]}

Ogundiran, Temidayo O. ^{[20
]}

Ojengbede, Oladosu ^{[21
]}

Blot, William ^{[13
]}

Troester, Melissa A. ^{[22
]}

Nathanson, Katherine L. ^{[23
]}

Hennis, Anselm ^{[24
,25
]}

Nemesure, Barbara ^{[25
]}

Ambs, Stefan ^{[26
]}

Fiorica, Peter N. ^{[3
]}

Sucheston-Campbell, Lara E. ^{[27
]}

Bensen, Jeannette T. ^{[22
]}

Kushi, Lawrence H. ^{[28
]}

Torres-Mejia, Gabriela ^{[29
]}

Hu, Donglei ^{[30
]}

Fejerman, Laura ^{[30
]}

Bolla, Manjeet K. ^{[31
]}

Dennis, Joe ^{[31
]}

Dunning, Alison M. ^{[32
]}

Easton, Douglas F. ^{[31
,32
]}

Michailidou, Kyriaki ^{[33
]}

Pharoah, Paul D. P. ^{[31
,32
]}

Wang, Qin ^{[31
]}

Sandler, Dale P. ^{[34
]}

Taylor, Jack A. ^{[34
]}

O'Brien, Katie M. ^{[34
]}

Kitahara, Cari M. ^{[35
]}

Falusi, Adeyinka G. ^{[36
]}

Babalola, Chinedum ^{[37
]}

Yarney, Joel ^{[38
]}

Awuah, Baffour ^{[39
]}

Addai-Wiafe, Beatrice ^{[40
]}

机构：

[1] Univ Chicago, Dept Med, Ctr Clin Canc Genet & Global Hlth, 5841 S Maryland Ave, Chicago, IL 60637 USA

[2] Univ Southern Calif, Dept Preventat Med, Keck Sch Med, Los Angeles, CA 90007 USA

[3] Univ Chicago, Dept Publ Hlth Sci, Chicago, IL 60637 USA

[4] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA

[5] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA USA

[6] Boston Univ, Slone Epidemiol Ctr, Boston, MA 02215 USA

[7] Univ Edinburgh, Usher Inst, Edinburgh, Midlothian, Scotland

[8] Univ Edinburgh, CRUK Edinburgh Ctr, Edinburgh, Midlothian, Scotland

[9] Stanford Univ, Sch Med, Dept Epidemiol & Populat Hlth, Stanford, CA 94305 USA

[10] Stanford Univ, Sch Med, Dept Med Oncol, Stanford, CA 94305 USA

[11] Stanford Univ, Sch Med, Stanford Canc Inst, Stanford, CA 94305 USA

[12] City Hope Comprehens Canc Ctr, Beckman Res Inst, Dept Populat Sci, Biomarkers Early Detect & Prevent, Duarte, CA USA

[13] Vanderbilt Univ, Dept Med, Vanderbilt Ingram Canc Ctr, Vanderbilt Epidemiol Ctr,Div Epidemiol, Nashville, TN USA

[14] Univ Miami, Dept Publ Hlth Sci, Miami, FL USA

[15] Univ North Carolina, Dept Radiol, Chapel Hill, NC 27515 USA

[16] Rutgers Canc Inst New Jersey, Canc Prevent & Control Program, New Brunswick, NJ USA

[17] Univ Southern Calif, Keck Sch Med, Dept Pathol, Los Angeles, CA USA

[18] NHGRI, Genom Dev & Dis Sect, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

[19] Roswell Park Comprehens Canc Ctr, Dept Canc Prevent & Control, Buffalo, NY USA

[20] Univ Ibadan, Coll Med, Dept Surg, Ibadan, Nigeria

[21] Univ Ibadan, Coll Med, Ctr Populat & Reprod Hlth, Ibadan, Nigeria

[22] Univ North Carolina, Gillings Sch Global Publ Hlth, Dept Epidemiol, Chapel Hill, NC USA

[23] Univ Penn, Dept Med, Perelman Sch Med, Philadelphia, PA 19104 USA

[24] Univ West Indies, Bridgetown, Barbados

[25] SUNY Stony Brook, Dept Family Populat & Prevent Med, Stony Brook, NY 11794 USA

[26] NCI, Lab Human Carcinogenesis, Bethesda, MD 20892 USA

[27] Ohio State Univ, Coll Vet Med, Dept Vet Biosci, Columbus, OH 43210 USA

[28] Kaiser Permanente Northern Calif, Div Res, Oakland, CA USA

[29] Inst Nacl Salud Publ, Ctr Populat Hlth Res, Cuernavaca, Morelos, Mexico

[30] Univ Calif San Francisco, Dept Med, San Francisco, CA 94143 USA

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

[32] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Oncol, Cambridge, England

[33] Cyprus Inst Neurol & Genet, Biostat Unit, Nicosia, Cyprus

[34] NIEHS, Epidemiol Branch, NIH, POB 12233, Res Triangle Pk, NC 27709 USA

[35] NCI, Radiat Epidemiol Branch, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA

[36] Univ Ibadan, Coll Med, Inst Adv Med Res & Training, Ibadan, Oyo, Nigeria

[37] Univ Ibadan, Dept Pharmaceut Chem, Ibadan, Oyo, Nigeria

[38] Korle Bu Teaching Hosp, Accra, Ghana

[39] Komfo Anokye Teaching Hosp, Kumasi, Ghana

[40] Peace & Love Hosp, Kumasi, Ghana

来源：

NATURE COMMUNICATIONS | 2021年 / 12卷 / 01期

基金：

美国国家卫生研究院; 欧盟地平线“2020”;

关键词：

GENOME-WIDE ASSOCIATION; GSTM1 NULL GENOTYPE; UPDATED METAANALYSIS; SUSCEPTIBILITY LOCUS; GASTRIC-CANCER; RISK; POLYMORPHISM; EXPRESSION; COMPLEX; POPULATION;

D O I：

10.1038/s41467-021-24327-x

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

GWAS have enhanced our understanding for the genetic basis of breast cancer, but the majority of them were performed for European ancestry populations. Here, the authors use a cross-ancestry approach and report seven new variants associated with breast cancer risk among women of African ancestry. Our study describes breast cancer risk loci using a cross-ancestry GWAS approach. We first identify variants that are associated with breast cancer at P < 0.05 from African ancestry GWAS meta-analysis (9241 cases and 10193 controls), then meta-analyze with European ancestry GWAS data (122977 cases and 105974 controls) from the Breast Cancer Association Consortium. The approach identifies four loci for overall breast cancer risk [1p13.3, 5q31.1, 15q24 (two independent signals), and 15q26.3] and two loci for estrogen receptor-negative disease (1q41 and 7q11.23) at genome-wide significance. Four of the index single nucleotide polymorphisms (SNPs) lie within introns of genes (KCNK2, C5orf56, SCAMP2, and SIN3A) and the other index SNPs are located close to GSTM4, AMPD2, CASTOR2, and RP11-168G16.2. Here we present risk loci with consistent direction of associations in African and European descendants. The study suggests that replication across multiple ancestry populations can help improve the understanding of breast cancer genetics and identify causal variants.

引用

页数：8

共 58 条

[1] The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans [J].

Ardlie, Kristin G. ;

DeLuca, David S. ;

Segre, Ayellet V. ;

Sullivan, Timothy J. ;

Young, Taylor R. ;

Gelfand, Ellen T. ;

Trowbridge, Casandra A. ;

Maller, Julian B. ;

Tukiainen, Taru ;

Lek, Monkol ;

Ward, Lucas D. ;

Kheradpour, Pouya ;

Iriarte, Benjamin ;

Meng, Yan ;

Palmer, Cameron D. ;

Esko, Tonu ;

Winckler, Wendy ;

Hirschhorn, Joel N. ;

Kellis, Manolis ;

MacArthur, Daniel G. ;

Getz, Gad ;

Shabalin, Andrey A. ;

Li, Gen ;

Zhou, Yi-Hui ;

Nobel, Andrew B. ;

Rusyn, Ivan ;

Wright, Fred A. ;

Lappalainen, Tuuli ;

Ferreira, Pedro G. ;

Ongen, Halit ;

Rivas, Manuel A. ;

Battle, Alexis ;

Mostafavi, Sara ;

Monlong, Jean ;

Sammeth, Michael ;

Mele, Marta ;

Reverter, Ferran ;

Goldmann, Jakob M. ;

Koller, Daphne ;

Guigo, Roderic ;

McCarthy, Mark I. ;

Dermitzakis, Emmanouil T. ;

Gamazon, Eric R. ;

Im, Hae Kyung ;

Konkashbaev, Anuar ;

Nicolae, Dan L. ;

Cox, Nancy J. ;

Flutre, Timothee ;

Wen, Xiaoquan ;

Stephens, Matthew .

SCIENCE, 2015, 348 (6235) :648-660

[2] IRF-1 inhibits NF-B activity, suppresses TRAF2 and cIAP1 and induces breast cancer cell specific growth inhibition [J].

Armstrong, Michaele J. ;

Stang, Michael T. ;

Liu, Ye ;

Yan, Jin ;

Pizzoferrato, Eva ;

Yim, John H. .

CANCER BIOLOGY & THERAPY, 2015, 16 (07) :1029-1041

[3] Emerging Roles of Epigenetic Regulator Sin3 in Cancer [J].

Bansal, N. ;

David, G. ;

Farias, E. ;

Waxman, S. .

ADVANCES IN CANCER RESEARCH, VOL 130, 2016, 130 :113-135

[4] Interferon regulatory factor-1 (IRF-1) exhibits tumor suppressor activities in breast cancer associated with caspase activation and induction of apoptosis [J].

Bouker, KB ;

Skaar, TC ;

Riggins, RB ;

Harburger, DS ;

Fernandez, DR ;

Zwart, A ;

Wang, A ;

Clarke, R .

CARCINOGENESIS, 2005, 26 (09) :1527-1535

[5]

Bray F, 2018, CA-CANCER J CLIN, V68, P394, DOI [10.3322/caac.21492, 10.3322/caac.21609]

[6] Design considerations for identifying breast cancer risk factors in a population-based study in Africa [J].

Brinton, Louise A. ;

Awuah, Baffour ;

Clegg-Lamptey, Joe Nat ;

Wiafe-Addai, Beatrice ;

Ansong, Daniel ;

Nyarko, Kofi M. ;

Wiafe, Seth ;

Yarney, Joel ;

Biritwum, Richard ;

Brotzman, Michelle ;

Adjei, Andrew A. ;

Adjei, Ernest ;

Aitpillah, Francis ;

Edusei, Lawrence ;

Dedey, Florence ;

Nyante, Sarah J. ;

Oppong, Joseph ;

Osei-Bonsu, Ernest ;

Titiloye, Nicholas ;

Vanderpuye, Verna ;

Abaidoo, Emma Brew ;

Arhin, Bernard ;

Boakye, Isaac ;

Frempong, Margaret ;

Oti, Naomi Ohene ;

Okyne, Victoria ;

Figueroa, Jonine D. .

INTERNATIONAL JOURNAL OF CANCER, 2017, 140 (12) :2667-2677

[7] An updated meta-analysis of the association between GSTM1 polymorphism and colorectal cancer in Asians [J].

Cai, Xiang ;

Yang, Lie ;

Chen, Haining ;

Wang, Cun .

TUMOR BIOLOGY, 2014, 35 (02) :949-953

[8] The CASTOR Proteins Are Arginine Sensors for the mTORC1 Pathway [J].

Chantranupong, Lynne ;

Scaria, Sonia M. ;

Saxton, Robert A. ;

Gygi, Melanie P. ;

Shen, Kuang ;

Wyant, Gregory A. ;

Wang, Tim ;

Harper, J. Wade ;

Gygi, Steven P. ;

Sabatini, David M. .

CELL, 2016, 165 (01) :153-164

[9] Genome-wide analysis of chromosomal alterations in patients with esophageal squamous cell carcinoma exposed to tobacco and betel quid from high-risk area in India [J].

Chattopadhyay, Indranil ;

Singh, Avninder ;

Phukan, Rupkumar ;

Purkayastha, Joydeep ;

Kataki, Amal ;

Mahanta, Jagadish ;

Saxena, Sunita ;

Kapur, Sujala .

MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS, 2010, 696 (02) :130-138

[10] Two Decades After BRCA: Setting Paradigms in Personalized Cancer Care and Prevention [J].

Couch, Fergus J. ;

Nathanson, Katherine L. ;

Offit, Kenneth .

SCIENCE, 2014, 343 (6178) :1466-1470

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