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The SLC4A7 variant rs4973768 is associated with breast cancer risk: evidence from a case–control study and a meta-analysis

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Abstract

Recent genome-wide association study has identified a genetic variant rs4973768, located in 3′-UTR of solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), was associated with increased risk of breast cancer (BC). However, several following replication studies cannot yield consistent results. We thus conducted a hospital-based case–control study including 485 patients and 514 controls, combined a meta-analysis including 108,632 cases and 135,818 controls to explore the relationship between this variant and BC risk. Our case–control study showed that rs4973768 was significantly associated with increased BC risk with the odds ratio (OR) of 1.29 (95 % confidence interval [CI]: 1.04–1.60) under the allelic model. In addition, the meta-analysis also indicated that the variant slightly increased the risk of BC with the pooled OR of the per-allele effect being 1.08 (95 % CI: 1.04–1.11) although with significant heterogeneity between studies. Stratified analyses showed that ethnicity, sample size, and study design may explain part of the heterogeneity. Moreover, the bioinformatics analysis suggested that this variant may influence the transcriptional capacity of SLC4A7. In summary, our results showed that the SLC4A7 variant, rs4973768, is associated with risk of BC although the underlying biologic mechanism warrants further studies.

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Abbreviations

BC:

Breast cancer

GWASs:

Genome-wide association studies

OR:

Odds ratio

CI:

Confidence interval

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Acknowledgments

We are grateful to all the participations in this study, as well as all the persons who helped us successfully complete the research. This work was supported by the National Natural Science Foundation of China (Grant No. 30972935, 81001171 and 81202094) and Key Technologies R & D Program of Hubei Province (Grant No. 2007AA302B07).

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The authors declare that they have no conflict of interest.

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Correspondence to Xiaoping Miao or Tao Huang.

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Chen, W., Zhong, R., Ming, J. et al. The SLC4A7 variant rs4973768 is associated with breast cancer risk: evidence from a case–control study and a meta-analysis. Breast Cancer Res Treat 136, 847–857 (2012). https://doi.org/10.1007/s10549-012-2309-9

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