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MicroRNAs related polymorphisms and genetic susceptibility to esophageal squamous cell carcinoma

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Abstract

Esophageal cancer (EC) is the sixth leading cause of cancer-associated death worldwide and the incidence and mortality in China are the highest. The single nucleotide polymorphisms (SNPs) related to microRNAs could lead to alteration in microRNA expression and contribute to the susceptibility of cancer. To evaluate the association between microRNA-related SNPs and EC, a case–control study including 381 patients with esophageal squamous cell carcinoma (ESCC) and 426 gender, age-matched controls was carried out to investigate the genetic susceptibility of five microRNA-related SNPs (rs2910164 in microRNA-146a, rs11614913 in microRNA-196a-2, rs7813 in GEMIN4, rs1595066 and rs16845990 in ErbB4) as well as the interactions of gene–gene and gene–environment in the development of ESCC. Variant homozygote genotype of rs11614913 in microRNA-196a-2 and rs1595066 in ErbB4 were significantly associated with reduced ESCC risk (ORadjusted: 0.62, 95 % CI: 0.39–0.99 and ORadjusted: 0.38, 95 % CI: 0.24–0.61). The analysis of haplotypes in ErbB4 gene showed significant increased ESCC risk in Grs1595066Crs16845990 and Grs1595066Trs16845990 haplotypes (ORadjusted: 1.46, 95 % CI: 1.08–1.99 and ORadjusted: 1.33, 95 % CI: 1.10–1.62), and inversely reduced ESCC risk in Ars1595066Crs16845990 and Ars1595066Trs16845990 haplotypes with OR (95 % CI) of 0.75 (0.60–0.94) and 0.65 (0.49–0.86), respectively. These findings suggest that the polymorphisms in the microRNA-related genes may affect susceptibility of ESCC in Chinese Han population and the gene–gene interactions play vital roles in the progression on esophageal cancer. Future studies with larger sample and different ethnic populations are required to support and validate our findings.

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Acknowledgments

This research was supported by People’s Republic of China (National Natural Science Foundation of China, No. 81072360), and Program for Science and Technology Innovation Talents in Universities of Henan Province (No.2010HASTIT027), and Excellent Youth Foundation of He’nan Scientific Committee (No.124100510007). We acknowledge the blood samples of cases given by the First Affiliated Hospital of Zhengzhou University. We also wish to acknowledge the residents in Xin’an County of Henan Province support our epidemiological study on the scene.

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Authors and Affiliations

  1. Department of Epidemiology and Biostatistics, College of Public Health, Zhengzhou University, 100 Science Avenue, 450001, Zhengzhou, China

    Yanhong Qu, Peng Wang, Chunhua Song, Kaijuan Wang, Jianying Zhang & Liping Dai

  2. Key Laboratory of Tumor Epidemiology, Zhengzhou, 450052, China

    Yanhong Qu, Peng Wang, Chunhua Song, Kaijuan Wang, Jianying Zhang & Liping Dai

  3. Information Center of Shenzhen Longgang District Maternity and Child Healthcare Hospital, Shenzhen, 518172, China

    Honghong Qu

  4. Department of Interventional Radiology, The First Affiliate Hospital in Zhengzhou University, Zhengzhou, 450052, China

    Manli Luo

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  1. Yanhong Qu
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Correspondence to Liping Dai.

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Communicated by S. Hohmann.

Y. Qu and H. Qu have the same contribution to this work.

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Qu, Y., Qu, H., Luo, M. et al. MicroRNAs related polymorphisms and genetic susceptibility to esophageal squamous cell carcinoma. Mol Genet Genomics 289, 1123–1130 (2014). https://doi.org/10.1007/s00438-014-0873-x

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