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BioMed Research International
Volume 2016 (2016), Article ID 3065493, 9 pages
Research Article

Associations of Genetic Variants at Nongenic Susceptibility Loci with Breast Cancer Risk and Heterogeneity by Tumor Subtype in Southern Han Chinese Women

1Institute of Pediatrics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Jinsui Road 9, Tianhe District, Guangzhou, Guangdong 510623, China
2School of Biotechnology, Southern Medical University, Shatai Southern Road 1023, Baiyun District, Guangzhou, Guangdong 510515, China
3Breast Center Nanfang Hospital, Southern Medical University, Shatai Southern Road 1023, Baiyun District, Guangzhou, Guangdong 510515, China
4Department of Primary Public Health, Guangzhou Center for Disease Control and Prevention, Qide Road 1, Baiyun District, Guangzhou, Guangdong 510440, China

Received 17 September 2015; Revised 6 January 2016; Accepted 4 February 2016

Academic Editor: Zhaoming Wang

Copyright © 2016 Huiying Liang et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Current understanding of cancer genomes is mainly “gene centric.” However, GWAS have identified some nongenic breast cancer susceptibility loci. Validation studies showed inconsistent results among different populations. To further explore this inconsistency and to investigate associations by intrinsic subtype (Luminal-A, Luminal-B, ER−&PR−&HER2+, and triple negative) among Southern Han Chinese women, we genotyped five nongenic polymorphisms (2q35: rs13387042, 5p12: rs981782 and rs4415084, and 8q24: rs1562430 and rs13281615) using MassARRAY IPLEX platform in 609 patients and 882 controls. Significant associations with breast cancer were observed for rs13387042 and rs4415084 with OR (95% CI) per-allele 1.29 (1.00–1.66) and 0.83 (0.71–0.97), respectively. In subtype specific analysis, rs13387042 (per-allele adjusted OR = 1.36, 95% CI = 1.00–1.87) and rs4415084 (per-allele adjusted OR = 0.82, 95% CI = 0.66–1.00) showed slightly significant association with Luminal-A subtype; however, only rs13387042 was associated with ER−&PR−&HER2+ tumors (per-allele adjusted OR = 1.55, 95% CI = 1.00–2.40), and none of them were linked to Luminal-B and triple negative subtype. Collectively, nongenic SNPs were heterogeneous according to the intrinsic subtype. Further studies with larger datasets along with intrinsic subtype categorization should explore and confirm the role of these variants in increasing breast cancer risk.