Genetic variants at 12p11 and 12q24 are associated with breast cancer risk in a Chinese population

PLoS One. 2013 Jun 12;8(6):e66519. doi: 10.1371/journal.pone.0066519. Print 2013.

Abstract

Background: A recent genome-wide association study (GWAS) has identified three new breast cancer susceptibility loci at 12p11, 12q24 and 21q21 in populations of European descent. However, because of the genetic heterogeneity, it is largely unknown for the role of these loci in the breast cancer susceptibility in the populations of non-European descent.

Methodology/principal findings: Here, we genotyped three variants (rs10771399 at 12p11, rs1292011 at 12q24 and rs2823093 at 21q21) in an independent case-control study with a total of 1792 breast cancer cases and 1867 cancer-free controls in a Chinese population. We found that rs10771399 and rs1292011 were significantly associated with risk of breast cancer with per-allele odds ratios (ORs) of 0.85 (95% confidence interval (CI): 0.76-0.96; P = 0.010) and 0.84 (95% CI: 0.76-0.95; P = 4.50×10(-3)), respectively, which was consistent with those reported in populations of European descent. Similar effects were observed between ER/PR positive and negative breast cancer for both loci. However, we did not found significant association between rs2823093 and breast cancer risk (OR = 0.97, 95%CI = 0.76-1.24; P = 0.795).

Conclusions/significance: Our results indicate that genetic variants at 12p11 and 12q24 may also play an important role in breast cancer development in Chinese women.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics*
  • Breast Neoplasms / epidemiology*
  • Breast Neoplasms / genetics*
  • Case-Control Studies
  • Chromosomes, Human, Pair 12 / genetics*
  • Female
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Odds Ratio
  • Polymorphism, Single Nucleotide / genetics*
  • Risk Factors

Grants and funding

This work was supported in part by National Natural Science Foundation of China (81071715; 81102179); Key Project of the National Natural Science Foundation of China (81230067); The Program for Changjiang Scholars and Innovative Research Team in University (IRT0631), The Young Talents Support Program from the Organization Department of the CPC Central Committee and the Priority Academic Program for the Development of Jiangsu Higher Education Institutions [Public Health and Preventive Medicine]. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.