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Genetic variants in ultraconserved elements and risk of breast cancer in Chinese population

  • Epidemiology
  • Published:
Breast Cancer Research and Treatment Aims and scope Submit manuscript

Abstract

Ultraconserved elements (UCEs) are the most extreme representatives of conserved non-coding sequences. Recent studies have indicated that UCEs are not mutation cold regions and likely to be concerned with cancers, including breast cancer (BC). In this study, we first screened common single-nucleotide polymorphisms (SNPs) (minor allele frequency, MAF > 0.05) in Chinese population located in 481 UCEs sequences and selected seven SNPs (rs17049105, rs13020355, rs2682406, rs2056116, rs11190870, rs9572903, and rs8004379) of uc.51, uc.82, uc.133, uc.140, uc.302, uc.353, and uc.368, respectively. A two-stage case–control study of BC with a total of 1,497 cases and 1,497 controls in Chinese population was conducted to test the hypothesis that these SNPs of UCEs are associated with BC risk. Stage I with 735 cases and 735 controls was designed to discover the risk variants, followed by stage II with 762 cases and 762 controls to validate the significant variants. In stage I, although the genotype distributions of all seven SNPs were not significantly different between BC cases and controls, logistic regression analyses revealed that the variant genotypes of rs8004379 were significantly associated with the increased risk of BC (dominant model: adjusted OR = 1.27, 95% CI = 1.01–1.58, P = 0.039). We then selected two SNPs, rs8004379 A/C and rs2056116 A/G, with lowest P values of the associations into the stage II analysis. However, none of above two SNPs were significantly associated with BC risk in both stage II and pooled set (rs8004379 AC/CC vs. AA: adjusted OR = 0.88, 95% CI = 0.68–1.13 for stage II and adjusted OR = 1.09, 95% CI = 0.92–1.29 for the pooled set; rs2056116 AG/GG vs. AA: adjusted OR = 1.12, 95% CI = 0.87–1.45 for stage II and adjusted OR = 1.11, 95% CI = 0.94–1.31 for the pooled set). These findings did not support a significant association between UCEs SNPs and the risk of BC in Chinese population.

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Abbreviations

UCEs:

Ultraconserved elements

ER:

Estrogen receptor

PR:

Progesterone receptor

OR:

Odds-ratio

CI:

Confidence interval

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Authors and Affiliations

  1. Department of Epidemiology and Biostatistics and Ministry of Education Key Lab for Modern Toxicology, School of Public Health, Nanjing Medical University, 140 Hanzhong Rd., Nanjing, 210029, China

    Hao Shen, Yue Jiang, Wei Chen, Hanze Zhang, Qin Zhang, Jianming Wang, Jie Liang, Zhibin Hu & Hongbing Shen

  2. Nanjing Maternity and Child Health Hospital of Nanjing Medical University, Nanjing, 210029, China

    Cheng Lu

  3. Department of General Surgery, Jiangsu Cancer Hospital, Nanjing, China

    Jinhai Tang

  4. Section of Clinical Epidemiology, Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Cancer Center, Nanjing Medical University, Nanjing, China

    Hao Shen, Zhibin Hu & Hongbing Shen

Authors
  1. Hao Shen
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  2. Cheng Lu
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  3. Yue Jiang
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  4. Jinhai Tang
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  5. Wei Chen
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  6. Hanze Zhang
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  7. Qin Zhang
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  8. Jianming Wang
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  9. Jie Liang
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  10. Zhibin Hu
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  11. Hongbing Shen
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Corresponding author

Correspondence to Hongbing Shen.

Additional information

Hao Shen and Cheng Lu contributed equally to this work.

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Shen, H., Lu, C., Jiang, Y. et al. Genetic variants in ultraconserved elements and risk of breast cancer in Chinese population. Breast Cancer Res Treat 128, 855–861 (2011). https://doi.org/10.1007/s10549-011-1395-4

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  • DOI: https://doi.org/10.1007/s10549-011-1395-4

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