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PD-1 polymorphisms are associated with sporadic breast cancer in Chinese Han population of Northeast China

  • Epidemiology
  • Published:
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Abstract

The programmed death-1 (PD-1) is a potent immunoregulatory molecule which is responsible for the negative regulation of T-cell activation and peripheral tolerance. In order to investigate the association between polymorphisms of PD-1 and breast cancer, a case–control study was conducted in Chinese female population consisting of 490 cases with breast cancer and 512 age-matched healthy individuals from Heilongjiang Province of China. Four polymorphisms of the PD-1 gene, including rs36084323 (PD-1.1), rs7421861, rs2227982 (PD-1.9), and rs2227981 (PD-1.5), were selected and genotypes were determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The frequencies of PD-1.1 GG genotype and PD-1.5 CT genotype were significantly lower in cases compared with controls (P = 0.020 and 0.004, respectively), and PD-1.5 CC genotype and C allele had higher frequencies in cases (P = 0.003 and 0.010). In haplotype analysis, we observed that the frequencies of ATTC and GTCT haplotypes were lower in cases than those of in controls (P = 0.0055 and 0.0012, respectively), whereas the GTCC and ATCC haplotypes had higher frequencies in cases (P = 0.0040 and 0.00008037, respectively). Additionally, strong association was showed between PD-1.1 and P53, and haplotype CCTA was associated with ER status. These results primarily suggest that PD-1 gene polymorphisms may affect the breast cancer risk and prognosis in Chinese Han females of Heilongjiang Province in Northeast China.

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Abbreviations

PD-1:

Programmed death 1

OR:

Odds ratio

CI:

Confidence interval

ER:

Estrogen receptor

PR:

Progesterone receptor

LN:

Lymph node

TZ:

Tumor size

PCR-RFLP:

Polymerase chain reaction-restriction fragment length polymorphism

HWE:

Hardy–Weinberg equilibrium

SLE:

Systemic lupus erythematosus

T1D:

Type 1 diabetes

AS:

Ankylosing spondylitis

RA:

Rheumatoid arthritis

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Acknowledgments

Zhang Hua performed the primer design and wrote the drafts. Li Dalin and Guan Jie collected the patient and control blood samples. Gao Xiang, Fu Zhenkun and Xu Fengyan and Zhang Jie performed the PCR-RFLP experiments. Pang Da and Li Dianjun conceived the study, and participated in its design and coordination and helped to draft the manuscript. All authors read and approved the final manuscript. This study was supported by a grant from the National Natural Science Foundation of China (31070780), the Natural Science Foundation of Heilongjiang Province (QC2009C16C0809), the Innovative Fund of Harbin Medical University Graduate Student (HCXB2010007). We thank all patients and healthy volunteers for providing blood samples. We are grateful for the collaboration received from the participating hospitals and their staff.

Conflict of interest

The authors declare that they have no competing interests.

Author information

Authors and Affiliations

  1. Department of Immunology, Harbin Medical University, Harbin, 150081, China

    Zhang Hua, Gao Xiang, Fengyan Xu, Zhenkun Fu, Zhang Jie & Dianjun Li

  2. Institute of Cancer Prevention and Treatment, Harbin Medical University, Harbin, 150081, China

    Zhang Hua, Pang Da & Dianjun Li

  3. Department of Surgery, The Third Affiliated Hospital of Harbin Medical University, Harbin, 150081, China

    Dalin Li & Pang Da

  4. Department of Immunology, Qiqihaer Medical College, Qiqihaer, 161041, China

    Guan Jie

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  1. Zhang Hua
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Corresponding authors

Correspondence to Pang Da or Dianjun Li.

Additional information

Zhang Hua and Li Dalin these authors contributed equally to this work.

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Hua, Z., Li, D., Xiang, G. et al. PD-1 polymorphisms are associated with sporadic breast cancer in Chinese Han population of Northeast China. Breast Cancer Res Treat 129, 195–201 (2011). https://doi.org/10.1007/s10549-011-1440-3

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  • DOI: https://doi.org/10.1007/s10549-011-1440-3

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