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Association study confirms two susceptibility loci for breast cancer in Chinese Han women

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

Abstract

To date, many loci associated with breast cancer have been identified through genome-wide association studies; most of these studies were conducted using populations of European descent. Thus, it is not clear whether these susceptibility loci are also risk factors for Chinese populations. We selected and genotyped 32 single nucleotide polymorphisms (SNPs) using the Sequenom iPLEX platform in a female Chinese cohort of 3036 breast cancer cases and 3036 healthy controls. A total of 23 SNPs passed the quality control test. The associations of these SNPs with disease susceptibility were assessed using logistic regression, adjusting for age. The Bonferroni correction was used to conservatively account for multiple testing, and the threshold for statistical significance was P < 2.17 × 10−3 (0.05/23). We confirmed ten risk-associated variants within three reported breast cancer susceptibility loci in a Chinese Han population: 5q11.2 (rs16886181, P = 5.29 × 10−6, OR = 1.19; rs1017226, P = 5.24 × 10−4, OR = 1.22; rs16886034, P = 2.00 × 10−3, OR = 1.21; rs16886113, P = 1.24 × 10−3, OR = 1.20; rs16886364, P = 9.20 × 10−4, OR = 1.21; rs16886397, P = 1.17 × 10−3, OR = 1.20; rs16886448, P = 1.62 × 10−3,OR = 1.20; and rs2229882, P = 5.14 × 10−4, OR = 1.31), 5q14.3 (rs421379, P = 2.83 × 10−13, OR = 1.83), and 10q26.1 (rs35054928, P = 7.73 × 10−6, OR = 1.18). The 10q26.1 locus was found to be a susceptibility locus for breast cancer in Chinese Han women in our previous studies. 5q11.2 and 5q14.3 are confirmed here for the first time as susceptibility loci for breast cancer in Chinese Han women. This study reports three breast cancer susceptibility loci that were previously identified in European populations and are also risk factors for Chinese populations. This study may extend the genetic basis of breast cancer in Chinese Han women and highlight the contribution of multiple variants of modest effect.

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Acknowledgments

We thank the individuals and families who participated in this project. We would also like to thank the participants who helped to collect samples from the Genetic Resources Collection Collaboration, China. We thank the State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology (Hefei, China). This project was supported by the Young Program of the National Natural Science Foundation of China (81301771).

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    1. Department of Oncology, No. 2 Hospital, Anhui Medical University, Hefei, Anhui, China

      Minggui Xu, Yihui Xu, Mengyun Chen, Wei li, Mingjun Zhang, Zhendong Chen & Bo Zhang

    2. School of Life Sciences, Anhui Medical University, Hefei, Anhui, China

      Minggui Xu, Yihui Xu, Mengyun Chen, Jianjun liu & Bo Zhang

    3. Institute of Dermatology and Department of Dermatology the First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China

      Minggui Xu, Mengyun Chen, Yang li, Jun Zhu & Xuejun Zhang

    4. State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Hefei, Anhui, China

      Xuejun Zhang

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    Minggui Xu, Yihui Xu, and Mengyun Chen contributed equally.

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    Xu, M., Xu, Y., Chen, M. et al. Association study confirms two susceptibility loci for breast cancer in Chinese Han women. Breast Cancer Res Treat 159, 433–442 (2016). https://doi.org/10.1007/s10549-016-3952-3

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