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Whole-exome sequencing reveals novel candidate single nucleotide variations for preventing adverse effects of levonorgestrel implantation.
Zhu, Weiqiang; Zhang, Junxian; Yuan, Xuelian; Liu, Xiaoli; Zhang, Zhaofeng; Mao, Yanyan; Feng, Ying; Yue, Ailing; Sun, Junjie; Wen, Chuan; Xu, Jianhua; Shen, Yupei; Che, Yan; Du, Jing.
Affiliation
  • Zhu W; NHC Key Lab of Reproduction Regulation (Shanghai Institute for Biomedical & Pharmaceutical Technologies), Medical School, Fudan University, Shanghai 200032, China.
  • Zhang J; Department of Family Planning, Maternal & Child Health Care Hospital of Xinjiang Uygur Autonomous Region, Xinjiang 830001, China.
  • Yuan X; Hami Central Hospital, Xinjiang Medical University, Xinjiang 830099, China.
  • Liu X; Chongqing Health Center for Women & Children, Chongqing 400010, China.
  • Zhang Z; NHC Key Lab of Reproduction Regulation (Shanghai Institute for Biomedical & Pharmaceutical Technologies), Medical School, Fudan University, Shanghai 200032, China.
  • Mao Y; NHC Key Lab of Reproduction Regulation (Shanghai Institute for Biomedical & Pharmaceutical Technologies), Medical School, Fudan University, Shanghai 200032, China.
  • Feng Y; Department of Family Planning, Maternal & Child Health Care Hospital of Xinjiang Uygur Autonomous Region, Xinjiang 830001, China.
  • Yue A; Hami Central Hospital, Xinjiang Medical University, Xinjiang 830099, China.
  • Sun J; Chongqing Health Center for Women & Children, Chongqing 400010, China.
  • Wen C; Hami Central Hospital, Xinjiang Medical University, Xinjiang 830099, China.
  • Xu J; NHC Key Lab of Reproduction Regulation (Shanghai Institute for Biomedical & Pharmaceutical Technologies), Medical School, Fudan University, Shanghai 200032, China.
  • Shen Y; NHC Key Lab of Reproduction Regulation (Shanghai Institute for Biomedical & Pharmaceutical Technologies), Medical School, Fudan University, Shanghai 200032, China.
  • Che Y; NHC Key Lab of Reproduction Regulation (Shanghai Institute for Biomedical & Pharmaceutical Technologies), Medical School, Fudan University, Shanghai 200032, China.
  • Du J; NHC Key Lab of Reproduction Regulation (Shanghai Institute for Biomedical & Pharmaceutical Technologies), Medical School, Fudan University, Shanghai 200032, China.
Pharmacogenomics ; 22(18): 1185-1199, 2021 12.
Article in En | MEDLINE | ID: mdl-34783250
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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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Levonorgestrel / Polymorphism, Single Nucleotide / Drug-Related Side Effects and Adverse Reactions Limits: Adult / Female / Humans Language: En Journal: Pharmacogenomics Journal subject: FARMACOLOGIA / GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Levonorgestrel / Polymorphism, Single Nucleotide / Drug-Related Side Effects and Adverse Reactions Limits: Adult / Female / Humans Language: En Journal: Pharmacogenomics Journal subject: FARMACOLOGIA / GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Country of publication: