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Whole-exome sequencing reveals novel candidate single nucleotide variations for preventing adverse effects of levonorgestrel implantation

    Weiqiang Zhu

    NHC Key Lab of Reproduction Regulation (Shanghai Institute for Biomedical & Pharmaceutical Technologies), Medical School, Fudan University, Shanghai 200032, China

    ,
    Junxian Zhang

    Department of Family Planning, Maternal & Child Health Care Hospital of Xinjiang Uygur Autonomous Region, Xinjiang 830001, China

    ,
    Xuelian Yuan

    Hami Central Hospital, Xinjiang Medical University, Xinjiang 830099, China

    ,
    Xiaoli Liu

    Chongqing Health Center for Women & Children, Chongqing 400010, China

    ,
    Zhaofeng Zhang

    NHC Key Lab of Reproduction Regulation (Shanghai Institute for Biomedical & Pharmaceutical Technologies), Medical School, Fudan University, Shanghai 200032, China

    ,
    Yanyan Mao

    NHC Key Lab of Reproduction Regulation (Shanghai Institute for Biomedical & Pharmaceutical Technologies), Medical School, Fudan University, Shanghai 200032, China

    ,
    Ying Feng

    Department of Family Planning, Maternal & Child Health Care Hospital of Xinjiang Uygur Autonomous Region, Xinjiang 830001, China

    ,
    Ailing Yue

    Hami Central Hospital, Xinjiang Medical University, Xinjiang 830099, China

    ,
    Junjie Sun

    Chongqing Health Center for Women & Children, Chongqing 400010, China

    ,
    Chuan Wen

    Hami Central Hospital, Xinjiang Medical University, Xinjiang 830099, China

    ,
    Jianhua Xu

    NHC Key Lab of Reproduction Regulation (Shanghai Institute for Biomedical & Pharmaceutical Technologies), Medical School, Fudan University, Shanghai 200032, China

    ,
    Yupei Shen

    NHC Key Lab of Reproduction Regulation (Shanghai Institute for Biomedical & Pharmaceutical Technologies), Medical School, Fudan University, Shanghai 200032, China

    ,
    Yan Che

    **Author for correspondence:

    E-mail Address: cheyan2004@163.com

    NHC Key Lab of Reproduction Regulation (Shanghai Institute for Biomedical & Pharmaceutical Technologies), Medical School, Fudan University, Shanghai 200032, China

    &
    Jing Du

    *Author for correspondence:

    E-mail Address: dujing42@126.com

    NHC Key Lab of Reproduction Regulation (Shanghai Institute for Biomedical & Pharmaceutical Technologies), Medical School, Fudan University, Shanghai 200032, China

    Published Online:https://doi.org/10.2217/pgs-2021-0105

    Aim: To identify novel genes associated with adverse effects of levonorgestrel (LNG) implants based on comparative whole-exome sequencing. Materials & methods: A cohort comprising 104 participants, including 52 controls and 52 women with LNG-related adverse effects, was recruited. Seven cases and eight controls were selected for whole-exome sequencing. We verified 13 single nucleotide variations (SNVs) related with integrin-mediated signaling pathway and cell proliferation using the MassARRAY platform. Results: Finally, we screened 49 cases and 52 controls for analyses. Two SNVs (rs7255721 and rs1042522) were located in ADAMTS10 and TP53, respectively, and significantly different between two groups. These two SNVs lead to changes in protein structure and physicochemical parameters. Conclusion: Here, we defined two pathogenic mutations related to adverse LNG effects.

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