ABCA1、LPL、LPA 和 KIF6 中的预测有害变体与家族性高胆固醇血症患者对他汀类药物的反应和不良事件有关，并干扰了蛋白质的结构和稳定性。

IF 1.7 3区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Pharmacogenetics and genomics Pub Date : 2024-02-07 DOI:10.1097/fpc.0000000000000524

Carolina Dagli-Hernandez, Glaucio Monteiro Ferreira, Renata Caroline Costa de Freitas, Jessica Bassani Borges, Victor Fernandes de Oliveira, Rodrigo Marques Gonçalves, Andre Arpad Faludi, Elisangela da Silva Rodrigues Marçal, Gisele Medeiros Bastos, Raul Hernandes Bortolin, Mario Hiroyuki Hirata, Rosario Dominguez Crespo Hirata

{"title":"ABCA1、LPL、LPA 和 KIF6 中的预测有害变体与家族性高胆固醇血症患者对他汀类药物的反应和不良事件有关，并干扰了蛋白质的结构和稳定性。","authors":"Carolina Dagli-Hernandez, Glaucio Monteiro Ferreira, Renata Caroline Costa de Freitas, Jessica Bassani Borges, Victor Fernandes de Oliveira, Rodrigo Marques Gonçalves, Andre Arpad Faludi, Elisangela da Silva Rodrigues Marçal, Gisele Medeiros Bastos, Raul Hernandes Bortolin, Mario Hiroyuki Hirata, Rosario Dominguez Crespo Hirata","doi":"10.1097/fpc.0000000000000524","DOIUrl":null,"url":null,"abstract":"This study explored the association of deleterious variants in pharmacodynamics (PD) genes with statin response and adverse effects in patients with familial hypercholesterolemia (FH) and analyzed their potential effects on protein structure and stability.","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":"23 1","pages":""},"PeriodicalIF":1.7000,"publicationDate":"2024-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Predicted deleterious variants in ABCA1, LPL, LPA and KIF6 are associated with statin response and adverse events in patients with familial hypercholesterolemia and disturb protein structure and stability.\",\"authors\":\"Carolina Dagli-Hernandez, Glaucio Monteiro Ferreira, Renata Caroline Costa de Freitas, Jessica Bassani Borges, Victor Fernandes de Oliveira, Rodrigo Marques Gonçalves, Andre Arpad Faludi, Elisangela da Silva Rodrigues Marçal, Gisele Medeiros Bastos, Raul Hernandes Bortolin, Mario Hiroyuki Hirata, Rosario Dominguez Crespo Hirata\",\"doi\":\"10.1097/fpc.0000000000000524\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"This study explored the association of deleterious variants in pharmacodynamics (PD) genes with statin response and adverse effects in patients with familial hypercholesterolemia (FH) and analyzed their potential effects on protein structure and stability.\",\"PeriodicalId\":19763,\"journal\":{\"name\":\"Pharmacogenetics and genomics\",\"volume\":\"23 1\",\"pages\":\"\"},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2024-02-07\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pharmacogenetics and genomics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/fpc.0000000000000524\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"BIOTECHNOLOGY & APPLIED MICROBIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pharmacogenetics and genomics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/fpc.0000000000000524","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOTECHNOLOGY & APPLIED MICROBIOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

这项研究探讨了药效学（PD）基因中的有害变异与家族性高胆固醇血症（FH）患者他汀类药物反应和不良反应的关系，并分析了它们对蛋白质结构和稳定性的潜在影响。

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

Predicted deleterious variants in ABCA1, LPL, LPA and KIF6 are associated with statin response and adverse events in patients with familial hypercholesterolemia and disturb protein structure and stability.

This study explored the association of deleterious variants in pharmacodynamics (PD) genes with statin response and adverse effects in patients with familial hypercholesterolemia (FH) and analyzed their potential effects on protein structure and stability.

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

Pharmacogenetics and genomics 医学-生物工程与应用微生物

CiteScore

3.20

自引率

3.80%

发文量

审稿时长

3 months

期刊介绍： Pharmacogenetics and Genomics is devoted to the rapid publication of research papers, brief review articles and short communications on genetic determinants in response to drugs and other chemicals in humans and animals. The Journal brings together papers from the entire spectrum of biomedical research and science, including biochemistry, bioinformatics, clinical pharmacology, clinical pharmacy, epidemiology, genetics, genomics, molecular biology, pharmacology, pharmaceutical sciences, and toxicology. Under a single cover, the Journal provides a forum for all aspects of the genetics and genomics of host response to exogenous chemicals: from the gene to the clinic.