全外显子组测序揭示了与铜质宫内节育器引起的异常子宫出血相关的新变异。

IF 1.7 4区医学 Q3 PHARMACOLOGY & PHARMACY

Personalized medicine Pub Date : 2022-11-01 Epub Date: 2022-10-17 DOI:10.2217/pme-2022-0060

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

{"title":"全外显子组测序揭示了与铜质宫内节育器引起的异常子宫出血相关的新变异。","authors":"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","doi":"10.2217/pme-2022-0060","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":" ","pages":"523-534"},"PeriodicalIF":1.7000,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Whole-exome sequencing reveals novel variants associated with abnormal uterine bleeding caused by copper intrauterine device.\",\"authors\":\"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\",\"doi\":\"10.2217/pme-2022-0060\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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.\",\"PeriodicalId\":19753,\"journal\":{\"name\":\"Personalized medicine\",\"volume\":\" \",\"pages\":\"523-534\"},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2022-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Personalized medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2217/pme-2022-0060\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/10/17 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"PHARMACOLOGY & PHARMACY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Personalized medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2217/pme-2022-0060","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/10/17 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"PHARMACOLOGY & PHARMACY","Score":null,"Total":0}

引用次数: 0

摘要

目的:探讨铜质宫内节育器置入后子宫异常出血的遗传危险因素，并验证其变异。方法:进行全外显子组测序，并用Sequenom MassARRAY对多个变异进行验证。结果:根据美国医学遗传学和基因组学学院的标准，8个变异表现出潜在的临床损害。综合筛选和验证分析，发现NFASC RS2802808 C>G . ile971met(等位基因= 0.009,Pgenotype = 0.027)和PIGR RS2275531 C>T . gly365ser(等位基因= 0.009,Pgenotype = 0.013)变异与子宫异常出血有显著相关性，但存在错误发现率。NFASC和PIGR可能通过调节凝血纤维蛋白溶解和子宫内膜上皮炎症功能在子宫异常出血中发挥作用。结论:本研究结果为临床个体化、精准化宫内节育器植入提供了遗传学依据。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

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

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 (P_allele = 0.009 and P_genotype = 0.027) and PIGR RS2275531 C>T p.Gly365Ser (P_allele = 0.009 and P_genotype = 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.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Personalized medicine 医学-药学

CiteScore

3.30

自引率

4.30%

发文量

审稿时长

6-12 weeks

期刊介绍： Personalized Medicine (ISSN 1741-0541) translates recent genomic, genetic and proteomic advances into the clinical context. The journal provides an integrated forum for all players involved - academic and clinical researchers, pharmaceutical companies, regulatory authorities, healthcare management organizations, patient organizations and others in the healthcare community. Personalized Medicine assists these parties to shape thefuture of medicine by providing a platform for expert commentary and analysis. The journal addresses scientific, commercial and policy issues in the field of precision medicine and includes news and views, current awareness regarding new biomarkers, concise commentary and analysis, reports from the conference circuit and full review articles.