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Whole-exome sequencing reveals novel variants associated with abnormal uterine bleeding caused by copper intrauterine device Supplementary Materials

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posted on 2022-11-21, 12:40 authored by Yupei Shen, Xiaoli Liu, Linfen Xu, Weiqiang Zhu, Zhaofeng Zhang, Junwei Liu, Lifang Jiang, Yanyan Mao, Jianhua Xu, Xiaoqin Yan, Junjie Sun, Fang Liu, Xiumei Xiong, Xiujuan Chen, Yan Che, Jing Du

Aim: This study aimed to explore the genetic risk factors and validate variants of abnormal uterine

bleeding after copper intrauterine device insertion. Methods: Whole-exome sequencing was performed

and several variants were validated by Sequenom MassARRAY. Results: Eight variants showed potential

clinical damage according to American College of Medical Genetics and Genomics criteria. By combined

analysis of screening and validation, NFASC RS2802808 C>G p.Ile971Met (Pallele = 0.009 and Pgenotype = 0.027)

and PIGR RS2275531 C>T p.Gly365Ser (Pallele = 0.009 and Pgenotype = 0.013) variants were identified

as significantly associated with abnormal uterine bleeding with a false discovery rate <0.05. NFASC

and PIGR may play a role in abnormal uterine bleeding by regulating coagulation fibrinolysis and

endometrial epithelium inflammation functions. Conclusion: These findings provide a genetic basis for

clinical individualization and precision of intrauterine device implantation.


grants from the Innovation-Oriented Science and Technology Grant from NHC Key Laboratory of Reproduction Regulation, (Grant / Award Number: 'CX2017-03')


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