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

• Published in: Pharmacogenomics 2021-12, Vol.22 (18), p.1185-1199
• Main Authors: 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
• Format: Article
• Language: English
• Subjects: Adult; Cell Proliferation - genetics; drug adverse effects; Drug-Related Side Effects and Adverse Reactions - genetics; Drug-Related Side Effects and Adverse Reactions - prevention & control; Female; Humans; levonorgestrel; Levonorgestrel - adverse effects; MassARRAY; Mutation - genetics; Polymorphism, Single Nucleotide - genetics; Signal Transduction - genetics; SNV; Whole Exome Sequencing - methods; whole-exome sequencing; Young Adult
• ISSN: 1462-2416; 1744-8042
• DOI: 10.2217/pgs-2021-0105

To identify novel genes associated with adverse effects of levonorgestrel (LNG) implants based on comparative whole-exome sequencing. 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. Finally, we screened 49 cases and 52 controls for analyses. Two SNVs (rs7255721 and rs1042522) were located in and , respectively, and significantly different between two groups. These two SNVs lead to changes in protein structure and physicochemical parameters. Here, we defined two pathogenic mutations related to adverse LNG effects.