Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women-Reference-Cited by-同舟云学术

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

Published:2021-07-07 Issue:1 Volume:12 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

Adedokun Babatunde,Du Zhaohui,Gao Guimin^ORCID,Ahearn Thomas U.^ORCID,Lunetta Kathryn L.^ORCID,Zirpoli Gary,Figueroa Jonine^ORCID,John Esther M.,Bernstein Leslie^ORCID,Zheng Wei^ORCID,Hu Jennifer J.,Ziegler Regina G.^ORCID,Nyante Sarah^ORCID,Bandera Elisa V.,Ingles Sue A.,Press Michael F.^ORCID,Deming-Halverson Sandra L.,Rodriguez-Gil Jorge L.^ORCID,Yao Song^ORCID,Ogundiran Temidayo O.,Ojengbede Oladosu,Blot William,Troester Melissa A.,Nathanson Katherine L.^ORCID,Hennis Anselm,Nemesure Barbara,Ambs Stefan^ORCID,Fiorica Peter N.,Sucheston-Campbell Lara E.,Bensen Jeannette T.,Kushi Lawrence H.^ORCID,Torres-Mejia Gabriela,Hu Donglei^ORCID,Fejerman Laura^ORCID,Bolla Manjeet K.,Dennis Joe^ORCID,Dunning Alison M.^ORCID,Easton Douglas F.^ORCID,Michailidou Kyriaki,Pharoah Paul D. P.^ORCID,Wang Qin,Sandler Dale P.^ORCID,Taylor Jack A.^ORCID,O’Brien Katie M.,Kitahara Cari M.,Falusi Adeyinka G.,Babalola Chinedum^ORCID,Yarney Joel,Awuah Baffour,Addai-Wiafe Beatrice,Chanock Stephen J.^ORCID,Olshan Andrew F.,Ambrosone Christine B.^ORCID,Conti David V.,Ziv Elad,Olopade Olufunmilayo I.^ORCID,Garcia-Closas Montserrat^ORCID,Palmer Julie R.,Haiman Christopher A.^ORCID,Huo Dezheng^ORCID,

Abstract

AbstractOur 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.

Funder

U.S. Department of Health & Human Services | NIH | NCI | Division of Cancer Epidemiology and Genetics, National Cancer Institute

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

Link

http://www.nature.com/articles/s41467-021-24327-x.pdf

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