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Association between the MTHFR A1298C polymorphism and risk of cancer: evidence from 265 case–control studies

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Abstract

Many molecular, epidemiological studies have been performed to explore the association between MTHFR A1298C polymorphism and cancer risk. However, the results were inconsistent or even contradictory. Hence, we performed a meta-analysis to investigate the association between cancer risk and MTHFR A1298C (81,040 cases and 114,975 controls from 265 studies) polymorphism. Overall, significant association was observed between MTHFR A1298C polymorphism and cancer risk when all eligible studies were pooled into the meta-analysis. In further stratified and sensitivity analyses, significantly increased cervical cancer (dominant model: OR 1.46, 95 % CI 1.13–1.90; AC vs. AA: OR 1.48, 95 % CI 1.13–1.92) and lymphoma (dominant model: OR 1.22, 95 % CI 1.04–1.44; recessive model: OR 1.66, 95 % CI 1.15–2.39; CC vs. AA: OR 1.75, 95 % CI 1.21–2.53) risk were observed in Asians, and significantly decreased colorectal cancer risk was found in Asians (recessive model: OR 0.75, 95 % CI 0.59–0.96; CC vs. AA: OR 0.77, 95 % CI 0.60–1.00). In summary, this meta-analysis suggests that MTHFR A1298C polymorphism is associated with increased cervical cancer and lymphoma risk in Asians, and MTHFR A1298C polymorphism is associated with decreased colorectal cancer risk in Asians. Moreover, this meta-analysis also points out the importance of new studies, such as oral cancer and chronic myeloid leukemia, because they had high heterogeneity in this meta-analysis (I 2 > 75 %).

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Acknowledgments

This study could be left out in case no funding was received.

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All authors have no conflicts of interest.

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This article does not contain any studies with human participants or animals performed by any of the authors.

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    Authors and Affiliations

    1. Department of Radiotherapy, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310006, China

      Xin-Li Zhu, Sen-Xiang Yan & Rui-Xia Chang

    2. Department of Gastroenterology, The Second People’s Hospital of Zhuhai, Zhuhai, 519000, China

      Zhi-Zhong Liu & Wei Wang

    3. Department of Obstetric, Peace Hospital of Changzhi Medical College, Changzhi, 046000, China

      Chun-Yan Zhang & Yan Guo

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    1. Xin-Li Zhu
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    2. Zhi-Zhong Liu
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    Correspondence to Sen-Xiang Yan or Rui-Xia Chang.

    Additional information

    Communicated by S. Hohmann.

    X.-L. Zhu and Z.-Z. Liu contributed equally to this study and should be considered as co-first authors.

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    Zhu, XL., Liu, ZZ., Yan, SX. et al. Association between the MTHFR A1298C polymorphism and risk of cancer: evidence from 265 case–control studies. Mol Genet Genomics 291, 51–63 (2016). https://doi.org/10.1007/s00438-015-1082-y

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    • DOI: https://doi.org/10.1007/s00438-015-1082-y

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