Breast Cancer Research and Treatment

, Volume 171, Issue 1, pp 161–171 | Cite as

SNP rs2071095 in LincRNA H19 is associated with breast cancer risk

  • Ping Cui
  • Yanrui Zhao
  • Xinlei Chu
  • Na He
  • Hong Zheng
  • Jiali Han
  • Fengju SongEmail author
  • Kexin ChenEmail author



An increasing number of long intergenic non-coding RNAs (lincRNAs) appear to play critical roles in cancer development and progression. To assess the association between SNPs that reside in regions of lincRNAs and breast cancer risk, we performed a large case-control study in China.


We carried out a two-stage case-control study including 2881 breast cancer cases and 3220 controls. In stage I, we genotyped 17 independent (r2 < 0.5) SNPs located in 6 tumor-related lincRNAs by using the TaqMan platform. In stage II, SNPs potentially associated with breast cancer risk were replicated in an independent population. Quantitative real-time PCR was used to measure H19 levels in tissues from 228 breast cancer patients with different genotypes.


We identified 2 SNPs significantly associated with breast cancer risk in stage I (P < 0.05), but not significantly replicated in stage II. We combined the data from stage I and stage II, and found that, compared with the rs2071095 CC genotype, AA and CA + AA genotypes were associated with significantly decreased risk of breast cancer (adjusted OR 0.83, 95% CI 0.69–0.99; adjusted OR 0.88, 95% CI 0.80–0.98, respectively). Stratified analyses showed that rs2071095 was associated with breast cancer risk in estrogen receptor (ER)-positive patients (P = 0.002), but not in ER-negative ones (P = 0.332). Expression levels of H19 in breast cancer cases with AA genotype were significantly lower than those with CC genotype.


We identified that rs2071095 may contribute to the susceptibility of breast cancer in Chinese women via affecting H19 expression. The mechanisms underlying the association remain to be investigated.


Breast cancer H19 LincRNA Genetic susceptibility SNP 



This study was supported by the National Natural Science Foundation of China (No.81473039), and the Science & Technology Development Fund of Tianjin Education Commission for Higher Education (No.20140141).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

We declare that all experiments that we have performed comply with the current laws of our country. All procedures performed in our study involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.


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© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Epidemiology and Biostatistics, National Clinical Research Center for Cancer, Key Laboratory of Breast Cancer Prevention and Therapy in Ministry of EducationTianjin Medical University Cancer Institute and HospitalTianjinPeople’s Republic of China
  2. 2.Department of Cancer Biobank, Key Laboratory of Cancer Prevention and Therapy of Tianjin, Tianjin’s Clinical Research Center for Cancer, National Clinical Research Centre of CancerTianjin Medical University Cancer Institute and HospitalTianjinPeople’s Republic of China
  3. 3.Department of Epidemiology, Fairbanks School of Public Health, Indiana University Melvin and Bren Simon Cancer CenterIndiana UniversityIndianapolisUSA

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